Copyright @ Linda Crabtree. All rights reserved.

Scroll down to find articles on the Nervous system, Pregnancy, a CMT Q&A, Referrals, Resources, Sex, Special skills dogs, Stress, Surgery, Testing and telling, Tips for living with CMT, Travel, Types, Vocal cords, Speaking and swallowing, Wellness, Women with CMT, and Work. 


Nervous Systems

CMT - A Disease of the Peripheral Nervous System 

Linda here - We talk so much about the peripheral nervous system that I thought it might be good to know more about these often discussed but vastly misunderstood pathways of Schwann cells and myelin that keep our body vital. I asked occupational therapist, Susan Salzberg, OTR/L in North Carolina to answer some questions for us and thank her for the many hours she put into her beautifully written replies. Also, thanks to physiatrist, Dr. Greg Carter of Washington, for reviewing this. 

Linda: Would you briefly explain the various nervous systems of the body and what they do. 
Susan: When I think of CMT as a PERIPHERAL NEUROPATHY, I like to think of the nervous system as being divided into two parts: the Central Nervous System (CNS) and the Peripheral Nervous System (PNS). In its simplest form, this division is based on anatomy: the CNS is what is inside the brain and spinal cord. The PNS is everything else. Thus, the nerves that give us movement and feeling in our limbs are all in the PNS. In reality, it is not this simple, but this is a basis to start with.

From your high school biology class, you may remember that the nervous system has several other parts. These are not mutually exclusive. The Autonomic Nervous System (ANS) helps keep the body going on an even keel. It is the regulator of body functions, including digestion, body temperature and blood pressure. The fight or flight response, a reaction to stress, is controlled by the Autonomic Nervous System. Blushing, heart palpitations, clammy hands and dry mouth are possible emotional reactions related to this system. The Central Nervous System controls parts of the ANS and the Peripheral Nervous System controls parts. 

Neurology books will often talk about Sensory Systems. These include the "five senses" plus balance: visual, olfactory (smell), gustatory (taste), auditory (hearing), tactile (sense of touch) and vestibular (balance). Again, parts of these systems are controlled centrally and parts are controlled peripherally. Nerves may also be referred to as sensory nerves or motor nerves. Sensory nerves are peripheral nerves that carry information from the outside world into your brain. Motor nerves activate muscles. For example, if we touch something hot, a sensory nerve will run up our arm to our brain. The brain will say "ouch, get me out of here" and will send a message down a motor nerve to the muscle that bends the arm... all in a matter of milliseconds!

There are other ways of dividing up the nervous system based on development and physiology, but I think these are the most familiar and most helpful in thinking about CMT.

Linda: Most of us know that CMT first affects the peripheral nervous system. Can you tell us exactly what the PNS covers. 
Susan: The simplest way to think of the Peripheral Nervous System (PNS) is that it is whatever is outside the brain and spinal cord. The "best known" and most common symptoms of CMT are probably loss of sensation and weakness in the legs. If you think of the spine as the geographic center of the body, the first and worst symptoms are in the feet... the most peripheral (distant) part of the body if measured from the spine. In my experience this is true for all types of CMT. If our only symptoms were weak hands and legs with perhaps some resulting deformities, CMT would be very straight forward and much easier to manage.

But the nervous system and the body are not simple and straight forward. As an example, the cranial nerves can be called the peripheral nerves of the brain. They are numbered by Roman Numerals I-XII and have very specialized functions which I will list briefly: 
I. Olfactory - smell. This is an unmyelinated nerve.
II. Optic - vision. The retina is the peripheral portion of this nerve. 
III. Occulomotor - raises the eyelid, controls 4 of 6 muscles that move the eyeball, constricts the pupil, focuses the lens.
IV. Trochlear - moves eyeball down and out.
V. Trigemina - sensation to face, nose, mouth, forehead and top of head - chewing muscles.
VI. Abducens - moves eyeball to side.
VII. Facial - taste (front 2/3 of tongue), tears, facial muscles of expression.
VIII. Auditory/Vestibular - hearing and equilibrium.
IX. Glossopharyngeal - taste(back 1/3 of tongue), throat sensations, swallowing, salivation and carotid sinus (monitors blood pressure and pH of the blood and connects with cardiovascular and respiratory center in the brain stem).
X. Vagus - sensations from throat, larynx, heart, trachea, lungs and stomach, vocal cord muscles, some swallowing muscles. 
XI. Spinal Accessory Nerve - a motor nerve with some fibers that join the Vagus - Jaw muscles and trapezius muscle.
XII. Hypoglossal Nerve - a motor nerve to the tongue muscles.

Linda: Is there any evidence that the central nervous system can be affected?
Susan: My response to this would be "No" although there is so much more we need to learn about CMT and the workings of our nervous systems.

CMT I is caused by deterioration of the myelin sheath. This is the coating or "insulation" on the peripheral nerves and is formed by Schwann cells. The nerves in the central nervous system also have a myelin coating on them, but it is formed by oligodendrocytes. Multiple sclerosis (a completely different problem from CMT) is caused by demyelination in the central nervous system. The myelin sheath on the cranial nerves is made by Schwann cells. Therefore, even though the cranial nerves are in the brain, they are really peripheral nerves. How sneaky!

But life isn't simple. In the axonal form of CMT the myelin is OK, there are just fewer nerve fibers. I don't think we know why there are fewer fibers. Could there also be fewer nerve fibers in the CNS? The other possibility is that a person with CMT may also have a separate central nervous system problem. It is an equal opportunity world for stroke, brain tumor or brain injury! 

Linda: Some of our readers experience hearing and eyesight problems. What system is that?
Susan: These both may be cranial nerve problems.

Hearing loss is well documented in CMT. This is due to involvement of the auditory division of cranial nerve VIII. The nerve impulse is impaired when going from the hair cells of the inner ear to the portion of the brain that interprets sound, thus reducing our ability to hear. Not everyone with CMT has this problem.

In my experience, problems involving the visual system are not as well documented in CMT, but I have no doubt they exist. Cranial nerves II, III, IV and VI have to do with vision and eye muscles. During pregnancy, when my CMT got worse, I experienced cross-eyes. This cleared up after my baby was born. I think that cranial nerve VI was involved. 

Linda: What about facial atrophy and facial tics. What's happening there?
Susan: This may also be a cranial nerve problem. The likely culprits would be nerves VII or V. With VII, there may also be loss of taste in the anterior 2/3s of the tongue (sweet, salt). Nerve V also provides sensation to the face, sinuses and jaw area. 

I am not an expert on tics but would assume with CMT that they are really fasciculations caused by muscle weakness.

Linda: What are fasciculations and what causes them?
Susan: Muscles that work well, and work as they should, have a good strong contraction when we use them.

If the muscle doesn't get a steady message from the nerve that supplies it, the muscle will not contract normally.

If the nerves which supply a specific muscle fire at different times rather than together, the muscle will give a weak, rhythmic twitch rather than a strong contraction. This is thought of as a sign of irritation or fatigue and can occasionally happens in healthy people. 

So a fasciculation is an involuntary muscle twitch which can actually be seen under the skin. When I think of fasciculations, I think of a defective electrical wire sputtering and causing a lamp to flicker rather than glow with a steady light. 

Linda: Some of us have burning feet and other parts of our body burn. What causes that? 
Susan: In my experience, people with neuronal CMT are more likely to have uncomfortable sensations and people with damaged myelin are more likely to have numbness. Both problems interfere with our body's "warning system." 

If we were walking on hot sand, we would expect our feet to burn. Irritation and discomfort are our body's warning system to make an avoidance reaction. Discomfort from false sensations can range from annoying to impossible to live with. These are called "paresthesias" or
"hyperesthesias" by the medical folks and are a very hot topic for people who deal with pain management. I am not sure what causes them. Controlling the pain seems to be a matter of trial and error. 

Linda: We've heard of fainting spells and even little seizures. Can that be our CMT? 
Susan: We all know that passing out cold or just feeling faint is caused by the brain not getting enough blood, usually because of insufficient blood pressure. What factors in people with CMT could contribute to this? Weak muscles in the limbs may not push blood back to the brain quickly enough in some instances. If cranial nerve IX is affected, the mechanisms that regulate blood pressure may not work well. People who experience episodes of faintness need to see their physician to make sure that there are no pressing medical problems that need to be addressed. If the fainting spells are related to CMT issues, there may be ways of managing them.

Seizures are more complicated. They last longer, are not relieved by lying down and usually involve incontinence. Seizures are thought of as short-circuits within the central nervous system.

Linda: Some of us also have problems swallowing, choking on food and water, even our own saliva. 
Susan: Eating and drinking involve several cranial nerves (V, VII, IX & XII) - both sensory and motor components. It is obvious that we need our muscles to chew, move food around in our mouth with our tongue and swallow. We also need excellent sensation in our mouth and throat to make sure we swallow safely. Swallowing is a complex process that directs food from our mouth to our stomach while avoiding our lungs. If we have a subtle impairment and "swallow down the wrong tube," we will choke and gag. This protects our airway. Our lungs do not want to receive the food! If our impairment is more severe, we may aspirate food into our lungs. If this happens enough, we may develop aspiration pneumonia. In aspiration, pneumonia it is common for the lower lobes to be involved because the food sinks to the bottom of the lungs.

"Silent aspiration" can occur if sensation is impaired to the point that the trachea does not feel the food passing through. This is an important concept because the body's defense system (irritation) isn't working. There is no choking or coughing, but the food or liquid is sliding right down into the lungs.

Speech and Language Pathologists can often teach "safe swallow techniques" to people who are at risk for aspiration.

CMT and PREGNANCY 
Having children without CMT

Preimplantation genetic diagnosis (PGD)
Can a woman who has CMT make sure she has children without CMT?
A woman writes to the Genetics Department at Baylor College of Medicine in Texas via e-mail:
"I am currently trying to get as much information on the subject of prenatal gene testing (and am not even sure if that is the correct term) as I possibly can. Perhaps there is some information that you may have that will prove helpful. I am a 28-year-old female with Charcot-Marie-Tooth disease. I have not been formally tested for a specific "type." As far as I know, my grandmother has CMT. She had four children (all boys); three of them have CMT. One of them is my father. He has three children. Two of us have CMT, both girls. My brother is not affected.

Question: Can I have children without CMT? Is there such a thing as testing for the CMT, by way of in-vitro, before I am actually pregnant, and only being inseminated with "children" without CMT? Or is this just science fiction?
"I understand that there is a 50% chance if I just "wing it." Unfortunately, I don't like the odds of a coin toss."
Answer: I am one of the genetic counsellors here at Baylor. In response to your questions: Yes, it is possible in some cases to have a pregnancy without CMT other than the 50/50 chance if you just "wing it." This is not science fiction. We refer to this testing as preimplantation genetic diagnosis (PGD) and we have doctors here at Baylor who will do this type of testing. We are just one of several centers in this country that perform PGD.

PGD is performed by going through in-vitro fertilization (IVF), and when the embryo is at the 6-8 cell stage, a single cell is removed for genetic testing. How the genetic testing is performed depends on what we are testing for. Based on the family history information you provided, the CMT in your family could be either autosomal dominant or X-linked. Have you been seen by a geneticist or had genetic testing? There are several different genetic forms of CMT. I recommend that you see a geneticist to clarify the type of CMT in your family.

Our preimplantation genetic diagnostic team currently offers PGD for couples where the man has X-linked dominant CMT by determining the sex of the embryos and only implanting male embryos because male offspring will not have X-linked CMT. If you have the X-linked form, this means that all of your children (sons and daughters) would have a 50% chance of inheriting your X chromosome with the CMT gene and thus would also have CMT. It may be possible for genetic testing to determine which X chromosome was passed to an embryo, but I would have to do some further investigating.

In summary, PGD may be a possible option for you, but we would first need to know what type of CMT you have. If you are interested in more information on preimplantation genetic diagnosis (PGD) to ensure that your child will not have CMT1A or HNPP contact: Noelle R. Agan, M.S., Genetic Counsellor; Tel: (713) 798-4363.

If you are already pregnant and want to know if the child will have CMT
by Lisa G. Shaffer, Ph.D., Associate Professor, Department of Molecular and Human Genetics; Director, Kleberg Cytogenetics Laboratory, Baylor College of Medicine, Houston, Texas, U.S.A.

"We have been performing CMT diagnosis in amniocentesis samples since the spring of 1996. Since January 1998, we have been performing CMT testing in CVS specimens. The test is reliable and fast. We can have both the cytogenetic (chromosome) results and fluorescence in situ hybridization (FISH) CMT results to the genetic counsellor or physician within 10 days.

"We require one of the following before we will do a prenatal test for CMT1A or the 1.5 Mb deletion associated with HNPP: 1) the molecular results from Athena (Athena Diagnostics, Four Biotech Park, 377 Plantation St., Worcester, MA 01605, U.S.A.; tel: 1-800-394-4493) will be sent to us for review on the affected parent; 2) FISH was performed on the affected parent in our laboratory; 3) FISH is being sent on the affected parent for screening in our laboratory, prior to or concurrent with submitting the prenatal specimen.

"We prefer to discuss individual cases with genetic counsellors and physicians and not the patient. I do not feel that genetic counselling is effective communication over the telephone and prefer that the patient is in contact with a specialist in the field."

Note: Remember this only works on CMT1A or HNPP right now. For more information on prenatal testing to see if your unborn child has CMT1A or HNPP, please get in touch with Baylor College of Medicine, Kleberg Cytogenetics Laboratory, One Baylor Plaza, Room 15E, Houston, Texas 77030, U.S.A.; Tel: 800-411-GENE in the U.S.A. or (713) 798-4984; Fax: (713) 798-3147; e-mail: kcl@bcm.tmc.edu and website: http://www.bcm.edu/genetics (2017 - Linda here –  A great deal has changed regarding preimplantation genetic diagnosis since this article is written. Please check with the CMTAssoc. at cmtausa.org and the Hereditary Neuropathy Foundation at hnf-cure.org and ask on the CMTUS Facebook page to people who have gone this route.)


CMT and Pregnancy - The rewards are worth it!
By Penny R. Smith, North Carolina

My daughter, Rachel, is now two years old but my pregnancy is still very vivid.

I became pregnant when I was 25. I was working full-time as a secretary for a printing company. At first, it was just the usual morning sickness, except mine was in the evening when I was more tired. Gradually, morning sickness became "all day long sickness." I tired so much easier and so much quicker than before. I passed out (both from being tired plus smelling paint fumes.)

It was the warmest 7½ months of my life. I have always been cold but while I was pregnant I was HOT! I decided then I liked being cold. You could always put on more clothes to warm up but you could not take off clothes to cool you down. [Penny R. Smith]

I went into premature labour 10 weeks early and was sent to bed. In a way, this was heaven. I no longer pushed myself to do my job, because I was sent to bed for the health of my baby. My baby meant the world to me, because before I became pregnant, I was diagnosed with cancer of the cervix and wasn't given much hope of being able to have children.

After five weeks in bed, my water broke. We went into the hospital at 1:10 p.m. and everything went fine. I was not the least bit tired and, for me, knowing we were almost there, finally, I had no trouble. At 6:02 p.m., my 5 lb. 7 oz., 19 inch long beautiful daughter was born. I could not hold her long after delivery because all at once I was exhausted! My hands shook twice as much as normal, my arm weighed 1,000 lbs. and my legs shook uncontrollably. The doctor said this was normal and took our baby to be cleaned up, etc.

I was afraid to carry her; what if I dropped her? What if my hands went numb? What if I tripped with her? What if I shake so bad I put my finger in her eye? How will I ever get all those snaps done up? Well, with God watching over my every move and having an extremely patient daughter, so far I have managed.

I now have a part-time job working with kids and the rest of the time I am with my daughter. It all is tiring work but I truly love every minute. So, until I can go no longer, I will keep running after kids. We do plan on having another child soon because I am getting too old and tired to wait for long.

Let me stress how important it is to have children if you really want them. I knew there was a 50/50 chance of my child having CMT and I struggled with this for a long time. I had to take this chance, and if it came to be that my child had CMT, I would do anything possible to help her/him understand and cope. There are few pleasures in this old world now but watching your child grow can make any pain or mishap go away.
(In a more recent letter from Penny)

I have wonderful news! I was offered a job as School Age Child Care Coordinator (I am also a Lead Teacher for this program). Accepting this position enabled me to receive full benefits! Finally, after 10 years, I have insurance! I was so excited filling out the papers that I wanted a copy of the application. They thought I was crazy but I told them if they had as much trouble getting insurance as I have they would understand.
Taking this new job, I also get to work at home (to stay with Rachel and also set my own pace). I can't believe all this is happening to me. It's great!
Also, after you published my last article, I have met (through the mail and pictures) many nice people. Thank you. Keep up the wonderful work you are doing!


Being pregnant balanced me out! I never felt better!
by Wendy Sarafinchan, ON, Canada

Here I am again writing to you about the only thing I'm really sure about, being a disabled mom.

Five years ago this January, I gave birth to a healthy beautiful baby girl. The way I remember it, I had one heck of a time. It took my husband, Steven, and me one year to become pregnant, and when we finally got the good news, we were in heaven. That was around the time one of my main fears kicked in. Would our child have CMT worse than I.

I had the usual morning sickness that lasted day and night for three months. I even lost five pounds In my fourth month our troubles began; I started to spot. I was beside myself with fear and anger. I figured I went through all the sickness and joy for nothing, especially when my doctor told me most women miscarry their first baby. I decided from that moment on I was going to fight to carry this baby to full term. I did everything by the book. We ended up the winners in the end. I carried to full term and then some. [Wendy Sarafinchan]

My delivery was a little out of the ordinary, though. Normally you are put in the stirrup bed to deliver, but not me. After the doctor broke my water and realized how big a baby we were dealing with, he decided to let nature take its course in my hospital bed. The doctor figured with all the hard pushing I had been doing I could very well break my ankles. The doctor made his first good call. After I'd pushed for two hours in vain, the doctor suggested suction. Steven and I were horrified. The doctor put this cup on the baby's head and with all his might pulled out a 9 lb. 11 oz. baby girl. Steven and I named her Aleigha Lynn. The first thing I did was check to see if she could feel my touch on her feet. She screamed and that was all I needed to hear.

I had decided to breast feed Aleigha but we ran into problems. My milk was fine but this kid was always hungry. Aleigha cried for 16 hours out of 24. Steven and I were taking shifts to get some sleep. Everyone had an opinion -- she has colic, she's wet -- but I knew she was mad and wanted food. After three weeks of this, we put her on the bottle and a miracle happened. Aleigha went from the devil child to a nice happy baby. Steven and I finally got the normal amount of sleep most new parents get, about five hours. We could now take Aleigha places without her clearing the room.

I have the perfect husband. For the first month or so, I never changed a diaper or walked the baby around. That was another fear. My hands were too slow for diaper tabs and I didn't want to fall with Aleigha in my arms. Aleigha took all this in stride. She learned patience with me and we made it through without any serious injuries.

Aleigha is now almost five and I think because of my disability and the way Steven and I are with her she treats people who are different with respect and kindness. I still have my ups and downs but in Aleigha's words, "That's mom." Aleigha is fine, and now that she is older and caring for her is a lot easier, I have other things to worry about, normal things, not CMT things.

Being pregnant balanced me out. I never felt better!

Linda here: Aleigha shows no signs of CMT at age five. Some testing has been done, and so far everything looks good. (2017- Aleigha is married and is a carrier of CMT type 4C.) 


Q and A

BREATHING: Why is being tested laying down so important?
Linda asks of Dr. Carter - When I was seeing Dr. Charlie Chan he told me that when I get my breathing checked for MIP (maximum inspiratory pressure) and MEP (maximum expiratory pressure) I should have it done sitting and lying down. He stressed the horizontal position and told me that because I didn't have the benefit of gravity when lying down I'd breathe more shallowly and it was good for the docs to know that when lying down I took in and especially pushed out quite a bit less air (one litre less). I've told folks to be tested lying down as well as sitting up but their doctors just poopoo that mainly because it comes from me and I'm not a doctor. Could you please answer the question (Why be tested lying down as well as sitting?) or suggest that people with CMT have their breathing tested both sitting and lying down and tell us WHY so I can print it in the CMT Newsletter with your name on it and then, maybe, pulmonary specialists will listen. Mine did and it made a big difference in how he saw my breathing and sleep problems.
Dr. Carter answers: You and Dr. Chan are absolutely right. People with CMT and NMD (neuromuscular disease) in general should have MIP and MEP done sitting and lying down. The horizontal position puts your diaphragm at a disadvantage by removing the effects of gravity. When you are upright, gravity helps lower the diaphragm and fill your lungs with air. This is why people often have breathing problems at night, which can be helped by sleeping sitting up or propped up with pillows. The heart also has a harder time pumping when you are lying flat, which further compounds the problem.
By checking your MIP and MEP lying down, your physician gets a better idea of how you might be breathing at night. A more extensive, expensive way of doing this is with a formal sleep study where they can observe you sleeping and check the amount of O2 in your blood, etc. Any physician who doesn't agree with this has forgotten basic physiology!


CMT and ?

This topic looks at the all the questions you have wondering if your symptoms can be part of CMT. CMT can be a frightening disease, especially if your doctor knows little about it and you have an active imagination. The questions below should help you relax and understand that every ache and pain you have isn't CMT. However, it is always wise to have a new ache or pain checked out. Just because you have CMT doesn't mean you can't have something else as well.

CMT and Autism?
My brother's son is four years old and has worn braces since he could walk. He has never spoken a word. Only now is he starting to grunt. He was diagnosed as being autistic at Hershey Medical Center in Hershey, PA. Another doctor examined him later and said he is not; his problem is poor muscle tone. He was examined by a pediatric orthopedic doctor, but was not told about my son having CMT. Could this be a form of CMT also? 
Dr. Charlotte Thompson answers: It would be important to have the child's hearing checked in a pediatric hearing center. Then I would want a good neuropsychologist to do testing if this has not been done. School testing is usually not adequate. I have had a CMT patient who is also autistic, so this could be a real possibility. I would not think about the vocal cords as long as he is grunting. Vocal cord paralysis to my knowledge has not been described in children and I've just seen it only in older CMT patients. 
CMT and Diabetes 
Question from Jennifer Mouritz: I was wondering if there is an association between CMT and diabetes. There seem to be many people with CMT who are type 2 diabetics. Or, is it that we often are not able to exercise easily that puts us more at risk of acquiring diabetes. Any thoughts or information would be greatly appreciated. 
Dr. Parry answers: There is no recognized relationship between CMT and diabetes. I think that it is just that diabetes is a very common disease. An estimated 12-15 million Americans have diabetes and there are perhaps as many as 200,000 people with CMT. That means that there are going to be a lot of coincidental associations. 
CMT and Endometriosis
Question: I would be interested in finding out how many females with CMT have had endometriosis. I was surprised to see it mentioned by someone in one of the newsletters. That was why I had a hysterectomy last summer. My neurologist got this ball rolling by stating that any muscle system could be affected with CMT; the uterus is a muscle. 
Dr. Lowell Williams answers: Although, as you point out, the uterus is a muscle, the illness of the muscle in endometriosis is different from CMT muscle disease. In endometriosis, there are multiple areas of marked inflammation in and on the uterus and in the lower abdominal cavity around the uterus that cause severe pain. In CMT, there is atrophy or loss of certain muscle groups with hypertrophy or overgrowth of other muscle groups thought to be due to nerve damage. Inflammation is not usually present, and muscle pain in CMT is secondary to the nerve problem and cramping. Clearly these conditions are different in appearance and cause and may just happen together sometimes.
CMT and Mitral valve prolapse 
Question from F. Kay Watson in Texas: I am currently faced with a new situation and would like to know if you have any information about this new problem. I was rushed to the hospital a little over a week ago with chest pains. I thought I was having a heart attack, I wasn't, but I do have some minor blockage (50% in the left artery and 60% in one of the branch arteries) but another problem was found. I have a mitral valve prolapse. Both my cardiologist and cardiac surgeon mentioned that due to my neuromuscular disease they were more concerned as the heart is also a muscle. I don't recall ever reading about people with CMT having any heart difficulties. I don't believe they were saying this is due to the CMT but I believe they are wondering if that is a possibility. I was wondering if you might have some information for me. I am now taking a cholesterol lowering medication and will have to return to the doctor frequently for blood work. I look forward to hearing from you. 
Dr. Parry answers:I am not aware of any relationship between CMT and mitral valve prolapse or, in fact, between CMT and any cardiac disease. CMT can affect autonomic function (cold, sweaty and purple feet are common!) and may possibly affect the autonomic fibers that go to the heart but it must be very rare. I have never seen a patient with clinically significant heart irregularities as a result of CMT.
CMT and rosacea
Q: A reader asks if there is anyone with CMT and rosacea. We know there are people who have CMT and rosacea but the incidence is likely no more than in the non-CMT population. 

A: Evelyn Reeve answers. I have rosacea and have been treating it with Metrogel. Mine would be considered a mild case – worse in winter when the weather is extra cold.
CMT and Seizures 
Q: Can seizures be part of CMT? 
Dr. Thomas Bird, Chief of Neurology at the VA Medical Centre in Seattle, Washington answers: CMT and seizures don't usually go together. If someone has CMT and seizures it is either an unrelated coincidence (seizures are not rare) or some very unusual disease and not typical CMT. Also, petit mal is a very specific neurologic diagnosis that requires EEG confirmation and does not refer to people who simply feel queasy with flashing lights.
Linda here: Every other doctor I have asked seems to feel the same. Seizures are not something you can self-diagnose. They can also be so light that you hardly know you've had one or they can really frighten you with their strength. In any case, if you think you are having seizures, please see your doctor.

Exercise - Are muscle toners safe?

Question: I used to be a member of your association a few years ago and you featured me in one of your newsletters. I have had two babies since I last wrote to you, so I have been quite busy. I have been really interested in purchasing a muscle toner, in which electrical signals stimulate the muscles. Are they safe to use for someone with CMT? Annette Lee
Answer from Dr. Greg Carter: I think these machines are garbage and may actually be detrimental for folks with CMT.


How to talk with medical professionals to get what you need
by Susan Salzberg, O.T. 
Question: How can I get what I need from medical professionals?
Answer: As an occupational therapist and a person with CMT, I have seen the patient-professional relationship from both sides. The relationship works well if both the patient and the professional are competent. It works moderately well if only one of the couple is competent. But all too often, I have seen situations where the patient does not know what to ask for and the professional is unaware of the patient's needs. You cannot "put yourself in your doctor's hands" and assume you will be taken care of. This also goes for OTs, PTs (physiotherapists), nurses, genetic counsellors and/or social workers. If we demand the best medicine has to offer, we must demand a lot of ourselves.

There is not a textbook treatment for CMT. Professionals cannot go to a book and say, "Um-hm, this is what to do on the first visit and this is what to do on the second visit." Our condition is not something acute which can be cured by a prescription (like a strep throat) or surgery (like appendicitis). CMT is chronic and highly variable with symptoms we adjust to over the years. Sometimes we adjust so well that we don't realize there might be a better, more efficient, less painful way of doing something. Sometimes we don't even realize that we should be asking for something.

It is possible that your medical professional has never had a patient with CMT, although, if you go to an MDA sponsored clinic, I hope this is not the case. "Medical treatment," including therapies and appliances, alleviates symptoms but doesn't cure anything. Some medical professionals will find this frustrating (they want to "fix you" but can't) and will therefore engage in pleasant denial with you. "You're looking good, Mr. Jones. How are you feeling?" sounds so much nicer than, "I see you're still having major problems." There is nothing wrong with exchanging pleasantries, and we are all socially conditioned to reply, "Just fine," to any question about our health. But don't forget, you are there to discuss your problems. If your medical professional is unsure of how to assist you, you must be prepared to ask questions which are to the point and will elicit the help you want and need.

What can you do to make to your clinic visit a success? Here are a few suggestions:
1. Write down complaints and questions prior to your visit and make sure they are addressed before you leave. Are you experiencing any new problems or feel there should be solutions to some of your old problems? It doesn't look stupid to refer to a list, it looks prepared.
2. Make sure you understand what you are being told. Some professionals are not good communicators and need to be reminded to state things in everyday terms. Take notes and repeat them for clarification.
3. Ask for it in writing. You won't remember an exercise program, the name of a pain reliever or other details tomorrow. If the information is routine, it may already be written down on a "patient education" form. If it is specific to you, make sure you get it in writing.
4. Educate yourself about CMT. Do you know what type of CMT you have? Do you know the reason for your physical problems? If you are planning a family, do you know your chances of passing on CMT? Read all you can. Join a support group if you feel like it.
5. Educate yourself about what each profession can offer you. Even if you are their only case with CMT, they have treated other folks with similar symptoms: poor standing, balance, decreased stamina, weak grasp and diminished muscle power. If you know what PTs and OTs do, you are in a better position to make sure you are getting the best each professional can offer. If you are unlucky and get a professional who feels that "nothing can be done because your case is progressive" (and if he can't be educated - see No. 6 below), get a new professional.. We shop around for the model of car we want - we can do the same for the medical professional who fits our needs.
6. Do not be afraid to educate your professionals about CMT. If you feel it is "not my job to teach them what they should have learned in school," no one will benefit. Be charitable and realize that, aside from CMT being highly variable, your medical professional has to keep up with hundreds of diagnoses and may not be "on top" of your particular case of CMT. Xerox reprints of articles for them. Explain your symptoms to them. They want to help you, but sometimes need to be told how.
7. If at all possible, try out equipment before purchasing it. There is nothing worse than getting an expensive piece of equipment home and finding it is not for you. Your OT and/or PT should know the right questions to ask you to make sure than any equipment fits your needs and your environment.
8. Become familiar with the many gadgets which are available to make your life easier. Your OT should have catalogues of "health care" equipment. Browse through them and ask questions about any you feel might benefit you. Of particular interest to many folks with CMT are jar openers, easy-grip door knobs and handles which make grasping easier.
9. Last, have a positive attitude about your life and your health. People have enjoyed life with afflictions far worse than CMT. We adapt our environment as much as we can and then we adapt ourselves to function in that environment.

Remember...living well is the best revenge! Your health professional is your partner in helping you learn to live well.

How can I get what I need from my doctor? - Zocor side-effect causes noncompliance 

Linda asks Dr. Parry: I was talking to a woman recently who has CMT. Her doctor has her on Zocor for cholesterol and she hurts all over. Her shoulders and hips are feeling as if they are loose, she says, and they are very painful. She let him read what you said about statins and he said, "That may well be but you are staying on statins." She is just not going to take them, she hurts so much. So, this doctor, by not working with us, simply forces us into noncompliance. Any thoughts on how we can get our GPs to work with us when we know things can harm us? I agree that the statins may be important for her but if she is in so much pain and nothing has been changed but the type (she took another statin before this and also had bad complications) how can she get her GP to search out other solutions to her high cholesterol levels that may not be so problematic for her? 
Dr. Parry replies: I am afraid that there is not much that can be done to improve the practice of doctors who don't want to be interested. I guess one can always seek out another doctor but that is easier said than done. The other end of the spectrum is when doctors won't treat anything in case it hurts the CMT. I have had patients refused dental treatment because the dentist was afraid that something bad might happen. I have no simple answers other than continuing the efforts to educate patients and, through them, their physical.


Surgery - Help for fusions not fusing
Question from Charlene Phillips: I have recently had my ankle totally fused by an orthopedic surgeon and the fusion is not fusing. The doctor is keeping me in a cast for another six weeks hoping it takes, but he thinks I only have a 20% chance. I was wondering if you are aware of any herbs or vitamins that may possibly help the fusion. 
Answer from Dr. Robert Sampson, an orthopedic surgeon who has CMT: There are no herbs or vitamins that seem to hasten or force a fusion. Since protein synthesis is what takes place in the fusion, some folks advocate vitamin C as helpful. In people who have terrible diets, I have truly seen miracles when they start taking something as simple as multi-vitamins. Smoking is a definite deterrent to a fusion, so if Charlene smokes she should stop until the fusion heals. One non-invasive way to force the fusion is to have her doctor get her an ultrasonic or pulsed electric bone growth stimulator. Either system requires a doctor's prescription, and both have about an 80% success rate which is about as good as a repeat surgery. Failure to fuse is about 10-20% of the cases nationwide. A fusion can usually be achieved through repeat surgery, a graft, use of a bone growth stimulator or a combination of all three. (Magnets do not seem to work.)


Symptoms - CMT or something else?

Bowels see also gastrointestinal
Symptom - Bowels 
Q: We would like to know more about CMT and bowel problems. My husband has just had another barium enema today for diagnostic purposes.
Dr. Lowell Williams answers: bowel problems are common in CMT. Sometimes it is frequent diarrhea and sometimes chronic constipation. Both of these can result from the abnormal function of sympathetic nerve to the bowel wall muscles. However, if you have a change in bowel function, be sure to check with your doctor: it could be something else that should be treated.


Symptoms - Dislocations - Dislocating kneecap
Q: from Gail Tschanz of WI. My left knee cap had been dislocating for 35 years and got to the point that it would dislocate when I turned over in bed. I recently had surgery to stabilize the patella. I am making very slow progress as far as bending the knee. I have been in physical therapy for two months and still can only bend it to 65 degrees with aggressive manipulation. The doctor is talking about putting me under anesthesia and making it bend if I do not make 90 degrees. This doctor is not familiar with CMT. Is it possible to run this by one of the doctors who is more familiar with CMT? The therapy is gruelling and I am going three times a week at this time. I just do not want to undo the progress that I have made so far.
A - Dr. Greg Carter
First of all you may benefit from an evaluation by Dr. Benjamin Brooks at the UW-Madison. He is a neurologist specializing in neuromuscular disease or Dr. Jim Agre, a physiatrist who is now at a clinic in northern Wisconsin and also specializes in NMD. 
That is a tough situation, one on which it is difficult to give advice. I am perplexed as to why the knee froze up so fast in the first place. Manipulation under anesthesia is a fairly brutal but occasionally necessary procedure. However, this technique doesn't always work and there is a lot of post manipulation pain. You need a second opinion.

Symptoms - Feet - Cold and numb feet
Q: My feet are very numb but still feel the cold. I don't understand this; my feet are so numb you can stick pins in them and I don't feel it so why do my feet feel cold?
Dr. Parry answers: The numbness we speak of in CMT and other neuropathies is loss of sensation mediated through nerve fibers in the skin and is only one part of the ability to perceive the temperature of the environment and to be able to react to it by reducing blood flow to the extremities (causing the feet and hands to go white), shivering, having the skin hairs stand up and forming goose bumps etc. The temperature receptors in the skin certainly form one part of that reaction but other factors, unrelated to these skin nerve endings, also play important roles.

Symptoms - Feet - Red and purple feet and swelling
Q - from Angie Deets in Texas: I have been in hospital twice with my feet and ankles swelling really bad. they get red and purple then I start having sharp, shooting pains in addition to the normal foot pain I have learned to live with. 
Tests say everything is okay but when they put me on intravenous antibiotics they clear up. Then it happens again. What's going on? 
A - Dr. Gareth Parry: The blood vessels have a nerve supply just like everything else. We call these vasomotor nerves and their main function is to control the calibre of the vessels and therefore the way blood flows to the limbs. As these nerves degenerate in CMT it is very common for the legs to become red or purple because of the diminished control of the blood vessels in the skin. Swelling intends to occur later. It is almost invariable that these features will develop eventually and occasionally they develop early.

Symptoms - Head & neck night sweats
Q: I tend to sweat a lot around the neck and head especially at night. These sweats do not seem to correspond with any disease process other than CMT. Can you shed any light on this? 
Dr. Parry answers: CMT does affect, to some extent, the nerves that control sweating. As the disease progresses, there is reduced ability to disperse body heat through sweating in the distal parts of the limbs (hands and feet). The commonest thing people then notice is that they sweat more on their bodies and head since it is the only place left where they can sweat. This is a common complaint but one that is hard to treat. Usually people learn to live with it but it can be embarrassing in social situations.

Symptoms - Muscle weakness 
Q: Is there any muscle in our bodies which cannot be affected by CMT? I ask this because my gluteals (buttocks) are weak even after regular exercise and I must get off the floor now with my rear in the air. (I think that it's called Gower's Sign.) I have had such trouble since my teens, but of course, it has progressed since then. A physical education teacher with whom I am acquainted thought that probably any muscle might be affected. My CMT sister has no trouble with her gluteals, and of course, I realize that members in the same family can exhibit different symptoms.
Dr. Lowell Williams answers: Any of the muscles of the body can be affected by CMT. The long action (motor) and feeling (sensory) nerves of arms and legs are most often impaired, but the sympathetic nerves that control intestines and other body functions also may have poor function. What is still not explained by the "gene defect" of CMT is the difference you describe between your weak gluteal muscles, causing you to rise as you describe, and those of your sister. CMT does have different "expression" in members of the same family, but we don't know why.

Symptoms - Osteoporosis and CMT
Question: The doctor says I have osteoporosis. Is it common among people with CMT? Does it have anything to do with the fact that some of us can't move or walk much? Does muscle atrophy play a part in it?
Answer from Dr. Gareth Parry - Yes! On all three accounts. You should take calcium supplements, and vit D and be on hormone replacement therapy if you are post menopausal. You should maintain some weight bearing exercise and quit smoking if you are a smoker. Additional medications, including fosamax, may help your bones take up calcium as you age. Also note that men can also get osteoporosis, particularly men with CMT and other neuromuscular disorders.

Symptoms - Pain 
Q: My main worry is my back, which my GP says is arthritis, and the fact that it hurts to sit on my behind. Have you ever come across any other person with CMT who has this problem? Is there anything you can tell me that might cause this?
Dr. Lowell Williams answers: Arthritis can occur in CMT especially when muscles holding the bones in proper alignment are weak. This puts stress on the joints of the knee, hip and back which allows arthritis to develop. Preventing this type of arthritis is the real goal of corrective surgery in CMT; this means bearing your weight properly on your joints! Sitting can be painful if you have arthritis in your hip joints or if you have lost your gluteal muscles and are sitting directly on the bones. Try sitting on a hollowed cushion


Q: We would like to know a little more about chest pain and CMT. My husband has had chest pains for years. Each time he has an ECG, it comes out fine, no heart problems. Our doctor just shrugs his shoulders when we mention CMT. Do you have any comments on either of these?
Answer: See the answer to question 3. Chest pain can result from weakened chest muscles and also from retention of small amounts of fluid in the lung from shallow breathing. It is important for CMT people to breathe deeply for several breaths at least once a day (be sure you are sitting down; it may make you dizzy since you aren't used to so much oxygen!

Symptoms - plateau or stopping of 
Q: For the last year, I seemed to have arrived at a state where my CMT had stopped. I use the word "stopped" loosely, and now have found it with me again. What I would like to know is which kind of arthritis goes hand in glove with CMT. Is it possible for me to have had a remission? I do not think the medics over here think so.
Dr. Lowell Williams answers: CMT does seem to go into remission for most people, usually during the period after adolescence and before aging changes that develop after 55. One study showed that CMT slows after the first five years from onset. We need more studies to understand this process.

Symptoms - Vision difficulties 
Q: I would like to know what vision difficulties individuals with CMT experience. I have experienced double vision when tired the last few years. More recently I have had difficulty with one eye, either left or right, not focusing. I will have perfect vision in one eye but the other one will be blurry and out of focus. Sometimes this will last up to four or five hours.
Dr. Lowell Williams answers: Weak eye muscles causing the blurred vision you describe may be due to a demyelination (myelin loss) of the cranial nerves that control these muscles. If this is the case, CMT can cause this type of vision problem. Although feet and hands are the major sites of nerves involved with CMT, the nerves of the neck and head may also be affected causing a weak swallowing reflex and a weak high-pitched voice. The retina (seeing tissue in the back of the eye) is affected also in one form of CMT with retinitis pigmentosa (Type VII as described by Dr. Peter Dyck in 1974.)


Referrals
It is easier now than ever to find a doctor or specialist working with people who have CMT. Go to the various CMT organizations on line and ask if there is one near you. CMT Associaton - CMTAUSA.org and the Hereditary Neuropathy Foundation hnf-cure.org. And, a CMT chatline such as CMTUS can be a way to ask thousands of people with CMT who they go to and if they like the way they are treated. Your chances of finding someone near you grow with the numbers you ask.  Your doctor maybe able to refer you to specialist but if not try calling the nearest teaching hospital and ask for the neurology department. They can likely refer you to a neurologist in your area who knows CMT. 


Resources you can access on CMT

Because this is an archive and websites and contacts change, I'll suggest you Google CMT and you'll find all kinds of information plus organizations all over the world working with people who have CMT. CMT Association cmtausa.org and the Hereditary Neuropathy  Foundation at hnf-cure.org. Use the words CMT, Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy, HMSN, peroneal muscular atrophy, peripheral neuropathy, muscular atrophy and hereditary neuropathy to search. It is also listed under the Muscular Dystrophy Association umbrella although it is a muscular atrophy. 


Sex

​Charcot-Marie-Tooth Disease
Sex, Sexuality and Self-esteem

by Linda Crabtree, CM, O.Ont., O.M.C., B.A., LL.D. former Executive Director, CMT International (Canada)
with a section on childhood by Patricia Levy, MSW, ACSW Medical Social Worker and Family Therapist (Israel)

I've been going to write something on Charcot Marie-Tooth and how it can affect our sexuality, our sex lives and our self-esteem for a long time but it wasn't until now that members of CMT International showed much interest. Perhaps the reason why I'm hearing from you more often on this topic is because we are all getting bolder and asking our physicians about the problems we're having with our sex lives. Not too long ago most people would never even mention the topic...even to their physicians. 

Now, when we ask, the majority of doctors will tell us that problems concerning our sex life couldn't possibly be part and parcel of CMT. Thankfully, we don't always believe everything we hear from physicians who might only know what they learned in med school many years ago and haven't kept up to date on CMT. We are beginning to learn from research done by physicians interested in CMT that there can be problems related to CMT that could possibly affect our sex lives and we have medical journal articles to prove it. 

Also, we know that as we develop our sense of self and figure out who we are, our self-worth or self-esteem develops. Without a healthy sense of self-esteem it is difficult to feel good about yourself. People who have CMT could, if their symptoms are prevalent from a young age, have difficulty feeling good about themselves all their lives. It is difficult to make friends, to form lasting attachments and to love yourself if you feel you aren't as good as everyone else or are different when being the same means so much. We'll look at self-esteem as well. 

A CHILD'S PERCEPTION by Patricia Levy 
First we'll talk about sexuality in children, and then we'll speak further about the adjustment of a CMT child to his/her sexuality.
A lot depends on how parents feel about sexuality themselves. For instance, when I was growing up I spent my whole childhood dressing and undressing behind closet doors. The body was not to be seen, always clothed, except in a bathing suit which was the nearest thing to nudity that I ever came to. The word sex was unmentionable in our home and because "nice girls" were always covered, as a child, I felt guilty even about looking at myself - especially "down there." I had a brain but not a body and being on the "fat" side didn't help especially in a house where you didn't eat between meals and sweets were counted. 

If someone had asked me as a small child, "Do you enjoy your body?," I probably wouldn't have had the slightest idea what they were talking about, much less the ability to express it. 

As a child, I became a "klutz" for life because of all the falling down I did (it was only as an adult that I found out that I had CMT). I obviously wasn't going to be one of those dainty and pretty little graceful girls to be dressed up in beautiful feminine dresses. A princess I was not.

I know that, as a child, I never consciously knew or thought of my body as a natural thing. It wasn't until I grew up, moved away from home and married a man who adored my body (we won't talk about my mind), even today with middle-aged atrophied muscles and skinny fingers, that I could begin to enjoy and accept my own sexuality.

Child Development and Parental Attitudes and Interaction
Sexuality is the most natural thing in the world. It's in all of us from the time we are born. From birth to toddlerhood, a child is all feeling. He/she is completely involved with his/her body. For instance, when a baby cries, it signals us that is is uncomfortable due to hunger, pain, or a wet diaper. When a toddler stubs his toe, he folds up feeling his pain all through his entire body and he cries. The next minute, he may be laughing from tickling.

There is a lot of natural bodily touching from birth in children. They naturally touch themselves all over with curiosity and pleasure including the genitals and the anus. They learn responsive touching with Mommy and Daddy through love and affection and hugging. Their bodies and their emotions are all tied together into one interactive package of spontaneousness. If you've ever watched small children at play, they often talk with crude humour about bodily functions and sometimes touch themselves in intimate parts. It is social and cultural conditioning that gives them a message of whether bodily self-acceptance and comfortableness are permitted or not about their "wee-wee," "no-no," "private parts" or the "unmentionables."

For instance, if toilet training is forced too early on a small child by an ambitious parent or harshly enacted with such verbal punishments as being "bad" or "not a big boy/girl" or "on purpose," this can cause feelings of guilt, shame and self-doubt for the child and in his ability for self-control. For a CMT child, it might be just plain embarrassing and physically difficult to get clothes off in order to go to the bathroom. A child naturally wants to feel pride in himself and his body, not shame, and he/she often wants to communicate his/her natural curiosity through questions about sex. If the parents are really listening, they may even enjoy the questions in answering the challenge of their child's world of inquiries.

In general, of course, this situation becomes much more difficult for the CMT child. If the child has CMT from birth, his body may become a source of pain and discomfort for him, making him crankier and crying more than other babies. Parents also often experience grieving and disillusionment and guilt that their "little bundle of joy" wasn't born perfect and that perhaps they themselves are responsible for this genetic result that's become very real. 


In toddlerhood, the CMT child discovers that he can't move his body like other children, and that his limbs might not look the same. By age three, as his understanding grows, he too may start to grieve over what he lacks.


It is said that a child knows who he is not by what you try to teach him but by what he thinks you are through his experiencing of you as a parent. For example, does he know you love him...all of him, including his entire body, even those awkwardly encased parts in bracing? If you're a parent with CMT, do you understand, accept, love and respect yourself including your body? These elements are important to CMT children with parents with or without CMT themselves. With positive self-acceptance and self-love, CMT children are much more apt to learn positive emotional coping skills that will work for them the rest of their lives. Once they can accept their bodies and themselves as they are, they will be much more comfortable with feelings of sexuality. If Mommy and Daddy hug and kiss, and show love and affection for each other and for their child too, then the child will have a stronger ability to cope with the outside world of curious and often unintentionally cruel classmates. The CMT child who views himself as attractive and acceptable will be much more capable of radiating this to the outside world.


CMT children don't all have to grow up to be little princes or princesses in terms of masculine or feminine appeal to the world. It's good to remember that sometimes it's difficult for parents to separate their own attitudes about sexuality from their child's.


My mother used to tell the story that on her wedding day she asked my grandmother, "Isn't there something I should know before I get married?" My grandmother turned all red and ran out of the room. It's no wonder that I grew up looking at closet doors.


Sexual attitudes and sexual taboos can be passed down from generation to generation right along with CMT and our adjustment to that. If parents can succeed in overcoming their own personal obstacles in a positive way, then their CMT children will be far, far ahead. The CMT child needs us to provide him with support, a positive attitude, acceptance and an environment that permits free and open discussion about both their CMT and their sexuality.


CMT AND ADOLESCENCE - Linda Crabtree


If your child has grown up knowing he has CMT he'll likely do pretty well as he goes into adolescence; he'll have adjusted to the fact that he has it. However, a great many people develop the signs of CMT as they become teens. This is a double whammy. It is hard enough going through all the changes of puberty without suddenly finding yourself having to struggle to accept a neuromuscular disease. 


This is when love and understanding from your family is all important, especially if someone else in your family has CMT. That person knows what it is like to have CMT and to cope with it on a daily basis. To not talk about it or to find someone else in the family who has CMT is in denial can be really tough for an adolescent who has developed signs and symptoms of CMT. Talking about it can really ease the anxiety a teen or anyone can feel and let them know they aren't alone with their fears and questions.

 

Adolescence is also the time when young people go from being disgusted with the opposite sex to being terribly curious. They gather in same sex groups and "check out" opposite sex groups. They parade in front of each other to show off what they have. If what they have is thin legs, a drop-foot walk and clawed hands, it is going to be difficult to take up this type of adolescent activity. You may not be wanted as this is the time when young people value the most looking just like their peers. Being different doesn't wash and isn't fun. The heathy slim physique, great looking hair, minimal zits and a great smile go a long way at this time of life. An adolescent with CMT can do their very best with everything but the healthy physique. Drop foot can be corrected with ankle/foot orthoses. The young male with drop foot may not have a bad time hiding his AFOs but a young girl simply cannot wear skirts without them showing. Prom night can be traumatic. However, a level head, the acceptance of family and peers and a good pair of black flats fitted with AFOs can see the night through in style. A long dress, if not out of keeping for the occasion, will certainly do the trick. Also, more and more girls are wearing lovely satin pants with lacy tops to dances and prom dress isn't as rigid as it used to be. 


Looking at members of the opposite sex soon escalates to touching. It can be difficult to "reach out and touch someone" literally if you have CMT affected hands. They are not the beautiful hands in the TV commercials or the masculine hands of an athlete but are different. Not wanting to touch someone for fear of a put down or rejection but dying to touch someone can be terribly difficult and frustrating for a teen or indeed for anyone with CMT, young or old. What you learn as you grow intellectually is that those hands, no matter how different, can still caress, nurture, prepare a meal and make a living. They are wonderful hands, they are just different. 


Also, there are certain signs that an adolescent sends to the opposite sex and these can be difficult to send if your hands are affected with CMT. Flipping or twisting your hair with a stare and a quick look away is a sign from a girl to a boy that she might be interested. If the hands take the interest away from the eyes the message will not be sent. And, the girl may not want to show her hands which could be thought of as odd behaviour for a teen. A boy who has never given his hands a second thought may run them through his hair or flip it aside out of his eyes or even comb it. He may adjust his collar or jacket with his hands in a hunching masculine way or hike up his baggy pants with his hands, fingers on his belt. This is his way of saying, "Look at me, I'm a guy and I'm gorgeous." The CMT teen may not feel that way because they don't feel gorgeous. 


These seemingly simple things can be barriers to meeting members of the opposite sex and forming lasting relationships. Let's hope the teen is comfortable with his or her CMT, a secure peer group that accepts his or her CMT and understands the disability. Let's also hope that teen also has a winning personality, as a huge smile and a little wit will go a long way to winning friends and attracting a boy or girlfriend. 


I know a young homosexual male who has CMT. He has gone through tremendous torment and anguish over shaking hands with his peers when he is introduced, such is the importance placed on a good body and a firm handshake in the homosexual society. He has now finally met someone who loves him for his intellect and warm, caring personality, not the strength of his handshake. Wonderful!


One note here: The adolescent who has an interest in school work and has a variety of interests seems to have a leg up, so to speak, on mixing well and meeting someone of the opposite sex. These intelligent adolescents, who often seek each other out, will sometimes be able to overlook the obvious and see the personality and talents shining through, while those limited in intellectual ability might tend to be attracted only by physical attributes and prowess.


Truly mastering the computer throughout the teen years can open opportunities to all manner of employment, friendships and knowledge and you don't have to stand on your feet all day or be a touch typist to operate one. 


CMT, SEX AND TEENS 

​While it would be wonderful if all teens waited to have sex until they found the right partner, we have to be realistic. The teen years seem to BE about sex! Above all, the adolescent wants to be seen as healthy and that translates as fertile. We can't kid ourselves that thoughts of having sex aren't there. They certainly are, and the urge begins very early in the older child or young adolescent. 


Something to consider is if your child has always been defined as a disabled child, rather than a child who happens to be disabled, he or she may not feel comfortable about discussing sex with you. After all sex and disability aren't on the same playing field for most people. If you have sex you can't be disabled, if you are disabled why would you want to have sex, you're so wrapped up in your disability. It is you, isn't it? You aren't a sexual being, you are a disabled being. 


This, of course, is bull! You are a person with all the hormones, urges, desires and needs of anyone else. Your maturing sexuality should be acknowledged just as your curiosity and need to express yourself should be met with acceptance that this is normal human development. You are a normal human being who happens to have a disability. That's it, period.


This stage of tremendous change is also one in which the young man or woman may have difficulty taking care of their hygienic needs. Please see more on this under the heading of personal hygiene.


Masturbation begins in childhood and most people, disabled or not, find their own way to masturbate. Weak hands, a lack of feeling in the extremities and the inability to open and stretch or even move fingers to reach the genitals may pose a problem. There are many aids for sexual pleasure on the market that can be ordered by mail or bought in adults only shops that can help a person who is finding it difficult because of various forms of weakness or loss of sensation to masturbate. Masturbating someone else can be difficult with weak CMT hands but there are many aids for masturbation and, depending on your comfort level, there are other body parts that can be used to masturbate your partner if your hands are too weak. 


As young people begin to pair off, touching becomes everything. How many times have you seen a young couple literally engulfed in each other kissing, caressing, so close you wonder how they can do it in public. This is a time for intimacy...not necessarily in private. However, the girl wants to be seen with a fellow who is fit and healthy just as the boy wants to be seen with a female that complements his outward appearance. Young people who have CMT sometimes have difficulty finding a mate because of their differences. Much depends on their level of disability and, I dare say, also on their attitude towards themselves and their peers. 


CMT AND MARRIAGE

I don't know how many grown people I've cried with on the telephone because they were just coming to grips with their advancing CMT in their 30s or 40s. It was ignored in their childhood and teen years because it "wasn't that bad." Now, in adulthood, they are having to face reality for the first time and it hurts! Dreams can be shattered and sometimes relationships built on physical attraction and athletic ability fail miserably.

 

I've had both men and women experiencing great distress call me to talk out problems because, as their CMT has progressed, what they thought was a "beautiful" marriage has fallen apart. After much talk and discussion, it usually is acknowledged that the marriage was built on physical and sexual attraction, and when the CMT affected spouse could no longer perform or attract as before, the partner's ardour and fidelity waned. Something as seemingly mundane as the inability of a woman who has CMT to wear high heels has been the cause of a broken marriage. Thin legs and unattractive feet and hands have been known to cool a spouse's romantic notions, male or female. High levels of fatigue and not wanting spontaneous sex by the CMT spouse can also turn off the well partner in some cases. We, as people with CMT, can't change, we can't help what is happening to us. In some cases this is heartbreaking because the marriage wasn't built on deep feelings and concern for the other person from the beginning but on superficial looks and passion, which we all know can fade. 


As CMT progresses, our bodies change, and if people can't talk about their concerns, then relationships, be they parent/child or spousal, can be adversely affected. It has been my experience over the years that more men leave their CMT affected wives than the other way around...most often leaving them with the children to raise, no way to make a living and a progressively debilitating neuromuscular disease that some of the children may have as well. 


Deserted or divorced women who have CMT are beginning to hire lawyers and sue their spouses for support. Sometimes the lack of information on CMT and how truly debilitating it can be can skew the judgements but precedent-setting cases are being won. 

These cases are giving women who have CMT a weapon to fight back with when their spouse leaves them for someone who is deemed "still attractive or sexy" in his eyes. 


This type of thing happens mainly to women but I've also spoken to men whose wives have just walked away from their marriage when the going got rough and the fellow couldn't live up to her expectations. Neither sex has the monopoly on this type of treatment and neither does CMT. This type of thing happens when all manner of chronic disease processes are involved, it is unfortunately not uncommon.


BUT, and this is a huge but, there are plenty of strong, secure marriages among people whose family includes a spouse and children who have CMT. There are even some families who can trace their CMT back five or six generations. And, there are many, many wonderful spouses who love and cherish their mates, CMT and all, sticking with them through thick and thin. 


Open communications, accepting and working with the CMT, learning to live well and cope on a daily basis with the rigors of CMT can make all the difference between a good and a bad relationship, a good and a bad marriage, and a functional and dysfunctional family when CMT is part of the factor. 


TO HAVE OR HAVE NOT 

​Once a mate is chosen there is the fear of pregnancy. It is my feeling that young people in a family that has CMT in it should be tested to know if in fact they have CMT, whether they show it or not. Anyone who has reached puberty can either father a child or get pregnant. Any young person who has CMT should be aware of that fact and know that they can pass it on to a child born in or out of wedlock. 


A child born to a teen with CMT can be of great concern to the entire family as the parents, especially the mother, may not be able to take care of the child properly and, indeed, may not fully understand herself at this age. And, a child with a disability is going to take even more care and concern to raise than a normal child. A mature, secure, loving environment is the least we can begin with when bringing a child into the world, and it can be planned. 


In the U.K. some doctors have said that young people should not be tested to know if they have CMT or not. The ramifications from this are tremendous as young people are going to be sexually active whether parents like it or not. Knowing they may carry a genetically transferred neuromuscular disease might just make them think twice before having unprotected sex or sex at all before they are in a stable relationship. It also might spark their interest in birth control when birth control isn't uppermost in their minds. 


A young couple also has to grapple with the fear and anxiety that they could have a CMT affected child. To be comfortable with who you are and what you have is one thing but being ready to take care of a child with the same disease is another. And, this may affect a young man's or woman's desire to marry. 


I've had young women and men talk to me about this and some have told me that they never intend to marry. The reason is just what I've mentioned, they simply can't fathom the thought of bringing a child into the world with CMT. 


With birth control available no one has to have a child. You can remain childless by choice. It is never a disgrace to not have children but it is unfortunate that some religions, some societies and cultures have made it seem as such. There are millions of unwanted children on this earth. Maternal and paternal instincts can easily be salved through fostering and adoption. 


As I've said, birth control can help you put off the decision as to whether or not you want to have a child, and preimplantation genetic diagnosis (PGD) can test for CMT before the fetus develops. (Google PGD). This is of prime importance to some people, especially those in cultures where a healthy child is everything and a disabled child reflects back on the parents, especially the mother, and the entire extended family. 


The chances of having a child with CMT depend on what type of CMT the parent has and are all decided upon conception. (Please see Genetics and Testing)


SEX AND CMT 

Feeling sexy and having recreational sex is just as possible for people who have CMT as it is for anyone else. It is very important though that the person who has CMT be comfortable with their CMT affected body and their partner also be comfortable with his or her own body as well as their partner's CMT. It could be difficult for a person who is not comfortable with their own body to accept someone who has CMT. Acceptance and love begin at home. If you don't love yourself and your own body, how are you going to love someone else and their body, especially if there is a lot to accept that is different.

 

One woman told me that she had not been touched by her husband for years or by anyone but herself. She felt starved for touch and for affection. Her husband was apparently turned off by her developing CMT. She eventually divorced him and has found an old love, someone who accepts her for who and how she is, CMT and all, and she is in love. How wonderful!


Another woman told me that her husband told her outright that he didn't want sex because her body simply no longer turned him on. He found sex elsewhere while she carried on in the marriage for the sake of the children. How sad when developing a deeper ability to communicate in the beginning might have seen a more profound love and understanding grow between these two. 


Both men and women have told me that they are often lonely within and outside of marriage because they are not often touched affectionately by people who don't understand their CMT. Touch is an important part of life, it connects us with other humans and makes us feel part of the human race. To never be touched can be devastating to the human psyche and many of us who feel a lack of touch often fill the need for affectionate touching by keeping a pet whose unconditional love can be everything. 


Acceptance and understanding can mean the difference between a truly good marriage and an awkward, stilted one. But, and again it's a big BUT, how many marriages are perfect, and many, many of us find ways to fill the gaps between what we have and what we need within a less than perfect marriage. I say more power to us, we do what we have to, to survive and thrive and we hopefully do it without hurting anyone.


CMT, IMPOTENCE AND OUR LOVE LIVES 

​Fortunately most people who have CMT have normal sex lives but there are some of us who find that our CMT has affected our ability to feel sensation in our genital or pudendal areas (surrounding our genitals), reach orgasm or in males to attain and maintain an erection. (see journal article on male impotence as well as one on pudendal nerve involvement as it can affect the feeling in our genital areas). 


Men who experience problems with attaining and maintaining an erection can often be helped through self-injection of a substance that helps engorge the penis with blood and thus, attain and maintain. I recently had occasion to speak with a gentleman in his 60s who has CMT and was thinking of remarrying after being a widower for many years. He was having difficulty getting an erection physically although he very much felt passion towards his lady who was very understanding. After discussing options he had a penile implant and has now married and is able to do everything he feels he wants to do to please his lady love.


A variety of drugs can also cause impotence in men. Talk to your doctor about the drugs he has you on before you look elsewhere. 

No real research has been done on women and their ability to reach orgasm but I know from talking to many women who have CMT that the ability to feel sensation in their genital area can be reduced or absent and the ability to reach orgasm can be missing or very difficult. I say can be – in most women it is normal but in some it is not (see attached journal article on pudendal nerve involvement).


Sometimes orgasm cannot be reached manually but a vibrator will do it. Sometimes it takes a very long time to bring a woman with CMT to orgasm because the ability to feel is reduced or so deep that it takes a partner with special perseverance to bring her to orgasm. Some women have their own way of bringing themselves to orgasm during masturbation or during intercourse. 


In some people with reduced nerve sensation, the opening of the anus can be extremely sensitive and touching that can bring the woman to orgasm. The nipples, inner thighs, inner arms, ears and neck can also be erogenous zones and lightly stroking of these areas can sometimes bring a man or woman who has lost sensation in the genitals to be interested in intercourse.

 

Above all, the brain is the most powerful sex organ we have. Most people know that they can be instantly turned on by an odour, a certain picture in their mind or fantasy. Some people can bring themselves to orgasm without any touch at all. It takes training and self discipline for most of us who can rarely concentrate on one thing very long, but it can be done. If you are having trouble enjoying sex with your partner or even pleasuring yourself, there are all kinds of tapes and books that can help you find out more about yourself and how to find what you want. 


CMT WEAKNESS AND SEX

​"Pucker up and give me a big kiss," can start it all. One kiss is fine, but believe it or not, just puckering the lips to kiss can become tiring as facial muscles can be weakened on one or both sides. Tongue muscles can also be weak. I'm not exaggerating when I say that really intense foreplay can see a person with CMT pooped out before sexual intercourse has even begun. 


Some people with CMT may have physical problems actually having intercourse. There are many ways and many positions in which to have intercourse but CMT can leave us with weak fingers, hands, wrists, and sometimes arms and shoulders, meaning some positions simply may not be for us. Knees can be weak or damaged from years of falling, even hips can be weak. A man who has CMT and is supposed to be on top during intercourse, in the missionary position, may find having sex quite tiring over time but change the position to the woman on top or to the spoon position where the man lies behind the woman and enters her lying down from the back and he may find renewed vigour and interest. 


The same thing goes for a woman who is always on her back, legs up and open. Knowing several comfortable positions could mean the difference between good sex and making it a chore. 


Many of us, male and female, develop what we call a charley horse or massive muscle cramps and these aren't uncommon during sex. Nothing can pour water on the fires of love more than a massive muscle spasm in your thigh, calf or back during intercourse. It simply hurts too much to carry on. 


Warming up for sex with a warm shower and some good stretches is smart. Think of it as an athletic activity because, for you, it very well could be the most vigorous physical activity you have at any time. Avoiding positions that stress weak wrists, painful knees or any other part of the human anatomy that is CMT affected and can affect your ability to perform is smart. Work with what you have that is still strong and good. Accentuate the positive. Sometimes pillows and even a bean bag chair can be very helpful in holding a position and/or bracing a body part that wants to slip or fall. 


Sex is good for us. All that breathing gets our blood going and the physical activity is relaxing and restorative. Sex also connects us with our other half when the pressures of life and our CMT may mean we sometimes neglect our emotional well-being.


Some of our readers have written to mourn the loss of spontaneity in their love lives. They are too tired to make love whenever their spouses want it or they would rather prepare slowly for something that gives both people a lot of pleasure while taking more out of them than anyone realizes. There is nothing wrong with explaining to your partner that you need to make love when you feel good, when you aren't dog tired and when you can put yourself into it without hurting at every move. Since fatigue is one of the primary symptoms of CMT, it isn't a bad thing to plan ahead when you are thinking of being very physically active. Most partners are understanding and want you to feel just as good about what both of you are doing as they do. After all, sex is about pleasing each other, isn't it?


While I realize that to make a date for sex is not what you'd call spontaneous, spontaneity in sex may be overrated. Knowing that you will be in your lover's arms by 11 p.m. that night can have you thinking about making love all day and planning how you would like it to be. Making the room, the bed and the time special, and just for the two of you can be far more romantic than a quickie before turning out the lights. And speaking of quickies, they may not be possible if you have trouble with your hands and can't get undressed quickly, don't respond like you used to and hurt all over from a day at work or with the kids and shopping. There are some things in life that common sense can make pleasurable and one is prolonging your sexual activity. We advocate pacing and moderation for all things when it comes to CMT and that may not be such a bad thing when it comes to sex either. Hey, holding hands in a nice warm bed, the dog between you and the TV on to a favourite movie, is really nice, too. Intercourse isn't everything, there is also a lot to be said for communicating and connecting any way that suits you.

 

If you are having trouble with your sex life or are experiencing a problem that you don't feel you can discuss with your partner because it is CMT related, try talking it out with a sex counsellor or someone who knows neuromuscular diseases. Most physicians are not trained in sex therapy but every now and then you'll find one who has the heart and empathy to be able to open up and help you sort things out. But, the person you should really have a heart to heart with first is yourself. Ask yourself if you are demanding too much of yourself in bed. Are you 50 and still trying to be 20. Are you taking into consideration the fact that things simply don't move as well as they used to and that you hurt in places you didn't know you had 10 years before. I think we all have a tendency to see ourselves as something we aren't in bed. Be that negative or positive, it helps to take a good inventory of what works and what doesn't and be honest with yourself. Then, talk it out with your spouse and see if you can work out a way that will be mutually pleasant for both of you and leave you both with a glow instead of one of you with cramps and so tired they can't see straight and the other raring to go for another round. 


Also, I think too many of us try to keep up with the national average for sexual intercourse, whatever that is. If we read somewhere that the average couple in North America has sex 3.5 times a week, we feel we have to have sex the same number of times or there is something wrong with us. This is nonsense of course and we must stop and remember we have a progressive neuromuscular disease...there is something wrong with us! How many people in North America with a progressive neuromuscular disease have sex 3.5 times a week. How many indeed. Numbers are ridiculous. Enjoying yourself and pleasuring your partner is what counts here not the numbers. 


Be realistic and your sex life will last longer. 


There are some really good books being written, mainly by women, talking about sex with their spouses who have a chronic disease.  Some of these could be very helpful to you and help you and your spouse develop a better sex life taking CMT into consideration.


CMT AND INCONTINENCE

Being incontinent can be a hindrance to a full sex life or even stop a person from wanting to have sexual intercourse. Some of us have bladder incontinence because the muscles that help us hold it in are weak. Dribbling and stress incontinence can be a worry to a lover who can't discuss this problem with their partner. Open discussion is necessary as many a good laugh can be had when something as simple as a dribble occurs. 


Some men and women with CMT wear a catheter but this is rare. Intercourse can be achieved by a male wearing a catheter by simply bending the tube back along the erect penis. Some men prefer to make sure their bladder is totally empty before engaging in intercourse and then take out the catheter to have intercourse normally. Some prefer to take out the catheter and use a condom in case of small leaks. 


Women who are incontinent and use a catheter can still have intercourse wearing their catheter or, again, some may prefer to empty their bladder fully and remove the catheter during sex. 


Faecal incontinence can be difficult but not impossible to work with during sex and again open communication can work wonders. Very few people who have CMT actually experience faecal incontinence. Those who do most likely experience leaking through pressure or stress. Some of us have bouts of diarrhea and constipation, and if we aren't having diarrhea, we are cramped with constipation. While constipation doesn't usually stop intercourse it can make it uncomfortable but diarrhea can mean that any exertion can see watery faeces on us or the bed. This can be embarrassing but it doesn't have to be if you can talk about it openly with your partner. A loving cleanup with a warm, wet washcloth can solve the problem and a change of position can sometimes alleviate the problem altogether.


Those who have faecal incontinence sometimes use suppositories so they can get their bowel program over at a certain time of the day and not have to worry about leakage during sexual activity. 


Flatulence during sexual intercourse is also not uncommon, but because of our bowel problems and what could be a loose sphincter muscle in the anus, flatulence could be more common for us. Simply ignoring it or getting a good laugh from it is the only way to go here. Every normal human being passes gases made in the intestines hundreds of times a day, it is not something we can stop during sexual activity; in fact, it may happen more often during sex because of position or exertion. 


To incontinence and flatulence I say don't sweat the small stuff when the act of pleasing each other is so wonderful!

HYGIENE

Both men and women can have problems keeping themselves clean because we have weak hands and wrists and may not be able to reach the places we need to keep clean.

 

As our hands and wrists weaken, we may have trouble wiping our anal area after a bowel movement. There is no disgrace in this, it is a fact of life, and it happens with people who have any kind of hand and wrist weakness. There are toilets on the market that can help you in this area by washing the areas gently with warm water and blow drying the area. There are also toilet bars that are quite inexpensive which can help you lean forward to access that area more easily and there are hand-held devices that hold toilet paper that might suit your individual needs.


As discussed previously, some of us have bouts of diarrhea and/or constipation. Diarrhea can mean we never know if we've gotten ourselves totally clean or not. There are some lovely little wipes available at drug stores that can assure you that you smell fine...if you can reach the area to use them.


Constantly being constipated can affect your breath, the way your skin smells and your comfort level for sexual foreplay and intercourse. Often, stool softeners can help constipation and drinking a lot of water also helps. See your doctor if you have constant diarrhea as you may not be absorbing nutrients from your food, because everything is passing through so quickly, and he can help with drugs.

 

Soft, small, long-handled brushes that curve to clean the anal or vaginal areas should be available to us, but I've never seen any on the market. To improvise, you can melt the stem of a super soft toothbrush and bend it to reach places you can't because your fingers won't extend. 


For a woman with CMT, tampons can be difficult to insert if your wrists and fingers are extremely weak. The pads that have sticky strips on the underside of them and stick to underwear can be wonderful because there are no longer belts with fasteners that come undone to worry about. However, these pads can stick so well that they can be difficult to pull off. A small pair of needle-nosed pliers used just for this procedure can solve the problem as they give the hand a pinching movement when the ability to oppose forefinger and thumb is lost.


Inserting medications for vaginal infections may also be impossible (please keep in mind that some medications for yeast infections and bladder and urinary tract infections can be harmful to us) as well as feminine douching. There are many varied treatments for vaginal problems. If you tell your doctor that you cannot insert something into your vagina because your hands are too weak, he can prescribe something that doesn't need inserting or has an inserter that you can use. 


Douching is usually done for feminine cleanliness after a menstrual period or intercourse and is not totally necessary as the natural discharges from these areas keep them lubricated and moist. Douching can alter the delicate pH balance in that area, which is not always desirable and can also be very difficult if a woman cannot squeeze a bottle or a bulb to get the liquid into the vagina. 


Cleaning ears and other small body cavities can be difficult if your fingers won't stay stiff and strong and/or won't open. Fortunately, there are products like Q-tips for your navel but these cotton covered sticks can do more harm than good by forcing ear wax back into the ear canal. One tip here is to put a little mineral oil into your ear using a small hypodermic syringe with no needle and that loosens the ear wax and it comes out naturally. 


There are many bathing aids on the market from handles to help you get into the tub to special bathtubs that have a special door sealed against water that allows you to simply step in and sit down without climbing over an edge. Fortunately, most of us seem to be able to keep ourselves clean and fresh with only a little searching out of the products that work best for us. 


Just a note: smelling fresh and nice can be a turn on. Covering body odour with perfume or after shave doesn't do it and many people who have CMT are very sensitive to perfumes; we simply cannot tolerate them.


IN CLOSING

We've talked about some pretty intimate things here but that's what it is all about isn't it... getting our concerns about sexuality, sex, self-esteem and intimacy out in the open. I'm no expert and I'm not a doctor but I have CMT and since 1984 when I founded CMT International, I've talked to thousands of you who also have CMT so I am aware of the problems and situations we face. Also, I've been married twice, lectured on sexuality, sex, self-esteem and disability, written several papers on it and actually started a small magazine on the topic. It is no stranger to me and I'm quite comfortable discussing these topics. - Linda.

Definitions:
Pudendum - (pu-den-dum) the external genitalia of humans, especially of the female; female pudendum: that portion of the female genitalia comprising the mons pubis, labia majora, labia minora, vestibule of the vagina, bulb of the vestibule, greater and lesser vestibular glands, and vaginal orifice. Commonly used to denote the entire external female genitalia. Called also p. muliebre and vulva.

Sphincter - (sfingk-ter) (that which binds tight) a ringlike band of muscle fibers that constricts a passage or closes a natural orifice

Micturition - (mik-tu-rish-un) passage of urine; urination


MEDICAL JOURNAL ARTICLE
Impotence Associated with Charcot-Marie-Tooth Syndrome

by T.D. Bird and H.P. Lipe, Department of Medicine (Neurology and Medical Genetics), University of Washington VA Medical Center, Seattle, Wash., USA, and L.D. Crabtree, CMT International, St. Catharines, Ont., Canada published in Euro Neurol 1994;34:155-157
Key Words
Charcot-Marie-Tooth syndrome; Impotence; Papaverine; Penile implants
Abstract
We report 7 men (ages 45-61 years) with impotence associated with the Charcot-Marie-Tooth syndrome (CMT). The range of onset of erectile dysfunction varied from 38 to 55 years of age. One patient had classic CMT 1A with autosomal dominant inheritance, slow motor nerve conduction velocities and the 17pDNA duplication. One had probable type-II hereditary motor and sensory neuropathy. None of the patients had diabetes. There was some benefit from papaverine injection therapy or penile implants. The association of impotence with CMT is likely to be more common than previously recognized.
Introduction
Impotence is a fairly common complication of numerous polyneuropathies. The best example is diabetes mellitus. Surprisingly, there has not been a formal report of impotence associated with the Charcot-Marie-Tooth syndrome (CMT; hereditary motor and sensory neuropathy, HMSN), even in extensive reviews of the disorder [1]. We report here 7 instances of this association and suggest that it is more common than previously recognized.
Patient Report
Case 1 is a 45-year-old man with classic CMT 1A. He is a member of a 4-generation autosomal dominant pedigree (No. 1549) that is part of a larger genetic study of CMT [2]. The neuropathy in this family has been documented to be associated with the 17p DNA duplication. Motor nerve conduction velocities in family members have ranged from 10 to 35 m/s with a mean of 20 m/s. This particular individual had served in the Navy and was married with 2 children. At age 36, following an injury to his elbow, a physical examination revealed signs of long-standing neuropathy and motor nerve conduction velocities were slow (median motor nerve conduction - 20 m/s). He had bilateral pes cavus foot deformity with moderate foot-drop. There was atrophy of the interossei muscles of both hands. Tendon reflexes were entirely absent and plantar reflexes were down. Sensation was decreased to vibration and pinprick in both feet. Ulnar and posterior auricular nerves were palpably enlarged. He had no tremor, no nystagmus and normal bulk and strength of proximal limb muscles. At approximately age 38, he noted the onset of impotence. This was evaluated by an internist, a neurologist and a urologist. No cause for the erectile dysfunction could be found other than his inherited neuropathy. Fasting blood sugar and glucose tolerance tests were normal. Prostate evaluation was unremarkable. At age 41, detailed electrophysiologic studies revealed a prolonged bulbocavernosus reflex latency ranging from 64 to 94 ms (normal < 42 ms). Pudendal somatosensory evoked potential primary cortical components were well formed but significantly delayed: P1 = 52.4 ms (normal < 48 ms), and N1 62.8 ms (normal < 60.4 ms). Testosterone injections provided no benefits. 0.2 cm3 of locally injected papaverine sometimes produced an erection. The patient noted that his impotence significantly impaired his self-confidence and self-esteem.


Journal Article
Pudendal nerve involvement in patients with hereditary motor and sensory neuropathy
by D.B. Vodusek and J. Zidar, Institute of Clinical Neurophysiology, University Medical Centre, Ljubljana, Yugoslavia 
published Acta Neurol Scand., 1987:76:457-460 
Key words
peroneal muscular atrophy; hereditary motor and sensory neuropathy; pudendal nerve; urinary incontinence.
Abstract
Pudendal nerve involvement was demonstrated by electromyography of perineal muscles and by recordings of their direct and reflex responses on perineal electrical stimulation in 10 patients with hereditary motor and sensory neuropathy. Patients reported no defecation disturbances and the 6 men had good erections. Urinary stress incontinence was seen in those 2 (of 4) female patients who had delivered.

The so-called sphincter disturbances are described in very few patients with hereditary neuropathy (1,2). In our experience (with ca.140 patients with hereditary motor and sensory neuropathy – HMSN) we have encountered micturition problems in patients only rarely. In fact they had never been actively sought until now and no data about their true incidence exist. On the other hand there is growing awareness of possible neurogenic causation of "idiopathic" urinary and faecal incontinence. Incontinent patients (without other neurological symptoms) are increasingly referred for electrophysiological investigations for assessment of a possible neurogenic sphincter lesion. As neuropathic changes in HMSN patients are expected to be more or less generalized it was felt that electrophysiological investigations of incontinent HMSN patients are useless before more is learnt about the sacral neuromuscular system in continent HMSN patients.
Patients and method
Ten consecutive patients with HMSN (14-40 years old) were seen at their annual follow-up visit. The typical clinical picture, a positive family history, the EMG findings, sural nerve biopsy (Patient 9, Table 1), as well as ruling out other causes of neuropathy had been the basis for diagnosis. They were diagnosed as HMSN Type I (6 patients: 4 men, 2 females: all with motor conduction velocity of the median nerve below 33 m/s), HMSN Type II (3 patients, 1 man, 2 females) and HMSN Type III (1 male patient). Patients agreed to an additional EMG examination of the perineal muscles.
Patients were questioned about their micturition, defecation and erection. The female patients were gynecologically examined. The electrophysiological examination of perineal muscles consisted of a concentric needle EMG and the detection of direct [R1] and reflex [R3] responses (3). In short, the muscle responses are recorded by a concentric needle electrode: the direct [R1] response is elicited by electrical stimulation in the perineum posteriorly to the location of the recording electrode: the reflex [R3] response is elicited by electrical stimulation of the dorsal penile (clitoral) nerve. The bulbocavernosus muscle and the external anal sphincter were examined in the male: the periurethral sphincter and the external anal sphincter in the female. Due to the large variability of amplitudes of electrically elicited muscle responses (as recorded by a needle electrode) only the latencies were systematically analysed. The median nerve (motor and sensory fibres) as well as the peroneal nerve were also examined. All stimulations were performed with bi-polar surface disc electrodes (Disa 13L22). M-waves from limb muscles were recorded with bi-polar surface disc electrodes. The sensory action potential of the median nerve was recorded antidromically on the index finger with ring electrodes (Medelec E/DS-K53052).

Micturition disorders and pudendal nerve involvement in 10 patients with hereditary motor and sensory neuropathy
Patient Sex Age HMSN Type Symptoms Perineal Muscles EMG R1 (ms) R3 (ms)
1 J.M. M 32 I none increased No. of polyphasic MUPs" 6.9 80
2 M.M. M 22 I none – 9.8 40
3 S.A. M 37 I none – 6.8 36
4 S.B. M 14 I none – 7.4 62
5 S.M. F 40 I frequency & stress incont. reduction of MUPs 8.6 63
6.D.A. F 29 I none increased No. of polyphasic MUPs 5.2 52
7. B.K. F 40 II stress incont. – 4.8 47
8. S.B. F 21 II none – 5.5 43
9. M.L. M 30 II none pronounced polyphasia 8.0 40
10. V.J. M 19 III none increased No. of polyphasic MUPs 8.0 100
Any micturition or defecation dysfunction
" Motor unit potentials
Direct response in external urethral sphincter muscle
"Bulbocavernosus reflex" response in external urethral sphincter muscle
Results
All patients denied faecal incontinence and soiling of underwear. All 6 men claimed good erections. All men denied any micturition dysfunction. The 4 female patients were gynecologically unremarkable (2 of them had delivered children). Two female patients denied urinary incontinence (these were the 2 female patients who did not deliver children). Two female patients had stress incontinence which was in one of them combined with frequency of micturition (both of them were troubled enough to seek medical help because of incontinence).
Electrophysiological findings in perineal muscles were abnormal in all patients. The needle EMG was abnormal in all of them: it did not detect any abnormal spontaneous activity, there was however an increased incidence of polyphasic motor unit potentials (between 20 and 40% in 8 patients, 75% in one patient). The number of motor units was significantly reduced in only one patient.
The mean latency of the patients' direct responses [R1] was 7.1 ms, which is prolonged compared to the mean latency of this response in the normal population (4.9 plus or minus1.13 ms) (3). Nevertheless, the individual values were abnormal (i.e. longer than 7.7 ms) only in 5 patients.
The latency of the reflex response [R3] was abnormally prolonged in 7 patients (i.e. longer than 42.5 ms - the mean value in normal control being 32.3 plus or minus 3.94 (3)). The diagnosis, the urinary symptoms and the electrophysiological findings are listed in Table 1.
Electrophysiological findings in limb nerves were abnormal (Table 2). Sensory potentials were detected in only of the patients with HMSN Type 1. No M wave of the short toe extensor could be obtained in patients with HMSN Types II and III.
Relative involvement of median, peroneal and pudendal nerves can be seen by comparison of distal motor latencies (Table 2): the values for pudendal nerves are relatively less different from normal values than those for the limb nerves.

Table 2
Electrophysiological findings in 10 patients with hereditary motor and sensory neuropathy
DL 
MCV Median nerve SCV 

DL Peroneal n. MCV 
R1 Pudendal n. R3
1. J.M. 11.4 16 0 not done 6.9 80
2. M.M. 10.0 18 0 14.2 20 9.8 40
3. S.A. 6.2 32 0 10.5 18 6.8 36
4. S.B. 12.9 22 0 16.8 27 7.4 62
5. S.M. 9.3 18 0 15.5 22 8.6 63
6. D.A. 6.6 33 30 25 10.3 24 5.2 52
7. B.K. 3.8 56 46 10 0 4.8 47
8. S.B. 3.6 54 0 0 5.5 43
9. M.L. 4.4 58 46 30 0 8.0 40
10. V.J. 15.0 1.0 0 0 8.0 100

DL R1 : Distal motor latency (R1: upper limit of normal 7.7 ms)
MCV : Maximal motor conduction velocity
SCV : Maximal sensory conduction velocity
A : Amplitude of the sensory action potential
R3 : Bulbocavernosus reflex latency
0 : No response 
Comment
All patients examined had electrophysiological abnormalities in their sacral neuromuscular system which were, however, less pronounced than the abnormalities detected in their limbs. Differences in electrophysiological findings in the sacral neuromuscular system between the groups HMSN I, II and III cannot be evaluated due to the small number of patients examined. Although evident electrophysiological abnormalities in sphincter muscles had been present in all patients only in 2 female patients micturition problems developed. Clinically and neurophysiologically they did not seem to differ obviously from other patients. The one distinguishing feature was the fact that of the 4 female patients in our group these 2 had had children. Therefore, childbirth can be regarded as an important factor in the development of incompetence of the urethral closure mechanism in these patients. Further, urodynamic evaluation for such patients would seem helpful.
Our study shows the pathologic process in patients with HMSN to be widespread, involving also the pudendal nerves. Abnormal EMG of perineal muscles (increased incidence of polyphasic potentials, reduction of motor unit potentials) was found in all patients examined. In addition, the distal latency for the pudendal nerve was abnormally prolonged in 5 of the bulbocavernosus reflex latency in 7 of the 10 patients examined. However functional disturbances due to the neuropathic process are not mandatory at the observed degree of involvement. In patients who do develop micturition problems other causative factors are probably involved.
We would like to stress this relative lack of correlation between electrophysiologic abnormalities and clinical dysfunction, which however is not a finding typical for the sacral nervous system. Lack of correlation between slowing of conduction in limb nerves and disturbances of function has been reported in patients with HMSN (4). In HMSN families some asymptomatic members have marked electrophysiologic abnormalities (5).
Whether such lack of correlation between an "abnormal sphincter EMG" and disturbance of function can be generalized to other groups of patients remains to be seen. It is claimed that idiopathic faecal incontinence (6,7) as well as idiopathic urinary stress incontinence (8) are neurogenic, as histological and electrophysiological investigations showed (minor) abnormalities in groups of such patients. We feel, however, that the correlation between the neuropathic abnormalities and functional deficiency is rather complex and that in an individual patient no micturition, defecation or erectile disorder should be "dismissed" as "neurogenic" by demonstration of minor electrophysiologic abnormalities alone.
Acknowledgement
This study was supported by the Research Community of SR Slovenia.
References
1. Holmes G. Family spastic paralysis associated with amyotrophy. Rev Neurol Psychia 1905;3;257-263.
2. Roussy G, Levy G.Sept cas d'une maladie familiale paticulière: troubles de la marche, pieds bots et areflexie tendineuse generalisé avec accessment, legère maladresse des mains. Rev Neurol (Paris) 1926:1:427-450.
3. Vodusek DB, Janko M, Lokar J. Direct and reflex resopnses in perineal muscles on electrical stimulation. J Neurol Neurosurg Psychiat 1983:46:67-71.
4. Buchthal F, Behse F. Peroneal muscular atrophy (PMA) and related disorders. 1. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 1977:100:41-66.
5. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy Types I and II. Brain 1980:103:259-280.
6. Parks AG. Anorectal incontinence. Proc R Soc Med 1975:68:681-690.
7. Beersiek F, Parks AG, Swash M. Pathogenesis of anorectal incontinence: a histometric study of the anal sphincter musculature. J Neurol Sci 1979:42:111-127.
8. Snooks SJ, Badenoch D, Tipfat R, Swash M. Perineal nerve damage in genuine stress incontinence of urine: an electrophysiological study. Br J Urol 1985:57:422-426.


Q and A 
Meeting the opposite sex 


Q: I fear going out with women, not because I'm shy (I'm not shy) but because of what they will think of my braces when they see them. I wear leg braces and usually wear long trousers to cover my legs. My hands are functioning pretty good now although they seem to be a bit narrow because of CMT. I pray they remain this way till I die! It seems women are afraid of guys with physical problems, so I don't know how to make contact with a woman (not to mention a love affair). This situation embarrasses me a great deal and I really don't know what to do. I think I should get some counselling for myself and the sooner the better. Can you give me any advice?

Psychiatrist Dr. Simone Blajan-Marcus of France answers this question: Men and women, especially when young, are more interested in their looks than before or later. I could sum up two main attitudes towards oneself. The first one could be defined by the following sentence: "What do I look like?" The other: "How do I feel?" In other terms, some people live their lives, others look at themselves living. They are somewhat exterior to their being. Most of the time, the latter privilege criticism over compliments. They are the ones who will not believe in the sincerity of a friend telling them they are pretty or intelligent and will brood a whole sleepless night over a pique or an insult by a perfect stranger. In fact, these people do not like themselves, and this, in turn, may be an internalization of a feeling of rejection by one parent in the past.

Especially when a person has CMT or any other handicap, at first, his or her parents might reject such a child, even so slightly, and afterwards, overcompensate out of guilt, but the youth knows, within himself, that his parents or siblings are ambivalent. So, the youth (and even an adult) will hear only the inevitable criticism, remark, the rejection gestures, and oversee any movement of tenderness or a sincere appraisal. This gives the subject a sense of insecurity which threatens his feeling of self-value. Also, hating oneself may be a way of "fishing" for a protest of love from others unconsciously. 

Braces are visible, at least in some intimate situations, therefore they betray the disability and can become an obsession to the extent that some people will refuse to wear them at the risk of pain and accidents. The other alternative is to stop meeting the other sex on a flirtatious ground.

How to cope with this problem? The first step, I think, is to accept, even love, oneself, with CMT braces, faults and all. What we feel about ourselves is contagious, others will follow.

But how to learn to love oneself? This is the fundamental problem. There is no such answer to it as "All there is to do is.." Maybe one of the principles is to stop wanting to be perfect, to accept that everybody has flaws. Besides, no progress can be achieved by not accepting failures. Bruises and falls are the way we learn to walk, figuratively speaking, as well. The same way, a disability can teach us to become more human, more humble, therefore more lovable, even more attractive.


Special Skills Dogs

Thinking of applying for a special skills dog? 

Linda here - Wondering exactly what you are getting into when you begin thinking about applying for a special skills dog? From information taken from at least two Web sites, I've gleaned some of the more important items you should maybe consider before you even think of applying. 

• You or your partner must be willing and able to look after a dog's complete physical and emotional wellbeing...nothing to be sneezed at!
• Speaking of sneezing.. are you allergic to dog dander or saliva? Most training centres will work with standard poodles. 
• You will be required to travel (and it could be at your own expense) to a training centre and spend two weeks learning to manage the assist dog's behavior and to direct the dog to respond to commands. 
• If all goes well, you will have the dog for its life. It is not something you can take on easily, it is like a marriage but tighter because as long as the dog is able to work, it will be with you.
• You may be required to take additional training from time to time and be checked on how you and your dog manage in public settings.
• Remember, you and your dog are a team and if it is established that you cannot physically manage your dog, you could be a candidate for an assisted service team whereby someone in your family works with you to care for and direct the dog. 
• Dogs are usually provided free of charge but you pay personal expenses in some cases but not everywhere. 
• Not all places train dogs for children, ask around.
• Dogs can also be trained to detect seizures. 
There are organizations that train special skills or service dogs in many countries. 
If you can't locate a centre near you talk to the people at your local veterinary clinic, services for the blind or independent living centre. If you have access to the Internet look under assist dogs, assistance dogs, service dogs and special skills dogs. All topics have different and overlapping information.

Assistance Dog is an umbrella term encompassing:
Service Dogs (disabilities other than hearing or visual, usually wheelchair users)
Hearing Dogs (Not signal or deaf dogs)
Guide Dogs (Not seeing eye or blind dogs)
Seizure Dogs (respond or predict seizures)
Social Dogs (companion type helpers without public access)
Balance Dogs (help people who walk with difficulty)


Stress

Anxiety and disability
by Michele Green, PhD 

For the past few years, I have been writing articles on disability issues for various newsletters and magazines. One editor mentioned that it had become apparent from discussion in his MS support group, and from discussions with people with various disabilities, that the issue of anxiety related to having a physical disability was a topic that needed to be addressed. I was immediately interested in writing this article because as a visually impaired person who also suffers from an anxiety disorder I had, myself, spent a lot of time talking to others about the relation between my physical disability and my anxiety and panic attacks. Bu it seemed to me that the best way to explore this issue would be not through an article but in a workshop where people could share their experiences and help each other.

A few years ago, I facilitated a workshop in Guelph, Ontario, hosted by the Guelph Services for the Physically Disabled on Learning to recognize and cope with anxiety related to physical disability. About 20 people participated, some with MS, others with various disabilities. The goal of the workshop was to help participants learn to recognize the symptoms of anxiety, express their feelings honestly, learn what triggers their anxiety and how to lessen it. We talked about the symptoms of anxiety and discussed how often we mask the expression of anxiety. Very few of us are brave enough to say forthrightly: "I am afraid because…"; most of us, without realizing it, cover our anxiety and instead say things like: "I don't feel like doing this," or "I'm not in the mood." It is actually a release from anxiety to be able to honestly state that one is afraid. You use a great deal of energy covering up.

We examined how anxiety can also be expressed non-verbally, i.e. by breathing quickly and shallowly, or by tensing our bodies. These non-verbal messages can sometimes worsen the symptoms of our disability or counteract the effects of physiotherapy, so it is quite important to become aware of what our body is telling us.

Talk then turned to the matter of triggers. There are quite specific things which can trigger our anxiety, often related to a particular disability. These include accessibility issues, worries about employment, or how we appear to others. There are also more general triggers, such as dealing with the unpredictable course of a disease or finding a competent yet sympathetic doctor, or relationship issues. What all these triggers have in common, we discovered, was that they were all related to a sense of loss of control, over our bodies and over the course of our lives. This was the one trigger which seemed to underlay most others and which was common to anyone with any kind of disability.

Our feelings of anxiety are related to our thought processes. The way we tend to look at and interpret the world around us influences how we think. We can get into a never ending circle unless we understand our tendencies to think in a particular way which may in fact be a distortion. For example, how many of us get nervous because we have been thinking about a particular event in a negative way? The group discussed various cognitive distortions, such as negative thinking or catastrophizing or getting caught up in the shoulds. So often we raise our anxiety level by believing that we should be able to do this or that, or that we should be able to manage like others. Everyone has their own favorite distortions but you can learn to recognize them and change your thought patterns to more positive ones, ones that support you instead of sending messages that you are just not good enough the way you are.

The workshop ended with a lot of suggestions about how we can lessen our anxiety. Finding a doctor who really knows about your disability but who will also take the time to talk with you topped the list. Other suggestions ranged from relaxation exercises, to pet therapy, to starting self-help support groups. The sense of sharing that grew through the evening, the willingness of these people, mostly strangers, to talk about these issues indicates to me how great the need is to initiate a dialogue about anxiety related to physical disability.

Common symptoms of anxiety: rapid heartbeat; shortness of breath or quick, shallow breathing; sweating; feelings of unsteadiness, i.e. 'rubbery legs'; trembling; choking or smothering sensations; feelings of unreality or being disconnected from your surroundings; feeling confused or overwhelmed; fears of losing control, going crazy or dying.

Common triggers of anxiety for people with disabilities:
Specific Triggers (specific daily life situations): lack of accessibility, logistics of performing daily tasks, i.e. grocery shopping; marital/sexual problems; worries about raising children at various stages of their lives and your disability - financial/employment concerns.
General Triggers (having to do with the physical disability itself, related to fear of losing control over body and over life): the nature of the disease; guilt over disability, feeling responsible; loss of self-esteem or confidence; concern others view you negatively; physical pain; relationship with doctors, care givers, i.e. do they know what they are doing?; why won't they answer my question?
Note: Anxiety and panic attacks or disorders can be treated successfully. If you experience them regularly and they are interfering with daily functioning, please seek professional help. There is no reason to suffer needlessly.

Linda here - I thought this article fit some of us to a T and might help others recognize that they aren't alone and let some see that they are suffering from anxiety and they aren't crazy.

After 56 years with CMT I still get anxious when new things come up. I also find myself agreeing to things that don't suit the new, more disabled me. For instance, a person will ask if I would like to go somewhere with them and, of course, I'll say yes, always looking to get out and about. When I stop and think about it, I have to take into consideration whether our destination is accessible, will their car take my scooter, can I get in and out of the seat in the car, can we find someone to help lift the scooter at our destination, will my sciatica be so painful I can't sit long enough to make the event worthwhile? All of these questions add to the anxiety that floods in after the elation of being asked to go somewhere and knowing I'll likely enjoy it.

Sometimes it all proves just too much to organize and I decline; sometimes I do all the steps that I have to do to take me somewhere and, in the long run, it is usually worth it all. I find that as I age and my CMT gets worse the predictable becomes comfortable but boredom and stagnation can easily set in if you never leave the predictable.
(The article by Michele Green was published in the MS Ontario newsletter Volume 12 Number 2, June 1997.)


Ask the doctor about stress
with Dr. Lowell Williams, Columbus Ohio

Q: I am aware that stress increases the progression of CMT. Have there been any studies done to test how fast stress aggravates the disease or, how much stress is too much for people with CMT? 
A: Stress is SO DIFFICULT to measure accurately that it is impossible to answer your question. Making this harder is the fact that CMT is a slowly progressive disease with times of no change or even improvement. Dr. Janice Kiecolt-Glaser at Ohio State University has shown that immune responses become less effective after the loss of a loved one and in caretakers for Alzheimer's disease patients. So it is likely that severe stress in CMT would also alter immunity, but we do not have a handle on how that affects CMT. – April 1990 
Q: After a minor operation last year, when I was supposed to walk out of the operating room, I developed a tremor in my arms that lasted for about 20 minutes. I shook uncontrollably and it frightened me. It hasn't happened since then except I can feel it coming back when I am very tired and very stressed. Why did this happen to me and how can I avoid it in the future? 
A: As discussed before in this column, the poor "autonomic nervous system" control that people with CMT often have may contribute to your "shakiness" under stress. Unfortunately, people with CMT can have other related autonomic problems such as excess sweating and either constipation or frequent loose bowels. -- Aug. 1990


Stress slows healing
(The Globe and Mail, Nov. 11, 1995)
Psychological stress has been found to hinder the healing of wounds. Professor Janice Kiecolt-Glaser and colleagues from the Ohio State University of Medicine studied 13 women charged with the stressful job of caring for ailing relatives and a control group of 13 similar age and family income. Each of the 26 women had a small wound inflicted on the forearm. The wounds of the control group healed in about 39 days but those of the caregivers took 49 days to heal. Blood tests showed the caregivers produced significantly less of a powerful hormone-like substance called interleukin-1B, a natural chemical that is part of the body's defence mechanism.

​The 14 worst human fears (of 3,000 people surveyed)* 
Rank Percentage: 1. Public speaking 41; 2.Heights 32; 3. Insects and bugs 22; 4. Financial problems 22; 5. Deep water 22; 
6. Sickness 19; 7. Death 19; 8. Flying 18; 9. Loneliness 14; 10. Dogs 11; 11. Driving/riding in a car 10; 12. Darkness 8; 13. Elevators 8; 
14. Escalators 5 
Added note to this American survey: "In general, women are far more fearful than men. Twice as many were afraid of heights, insects, deep water, flying or driving in cars; three times as many were frightened of darkness and four times as many were frightened of elevators. They were also more fearful of dogs, getting sick and dying. But if that makes it seem like a male chauvinist survey, it is worth noting that the only fear that men have more often than women is the fear of financial problems."  *from Dale Carnegie literature


​CMT and STRESS
What we know and don't know
by Linda Crabtree 

I'm often asked if a severe period of stress can either bring on CMT in a person who has not previously experienced symptoms or make CMT worse in a person who has mild symptoms.

Just recently, in a two-day period, I was asked if prolonged extensive forced exercise could bring on CMT; if silicone breast implants or if an industrial accident causing herniated discs could make CMT worse. People involved in automobile accidents often write to ask if the accident could have caused their CMT to worsen and I've also heard from a person who was dumped from a wheelchair while being carried downstairs, someone who fell off a ladder and a woman who tripped on a section of uneven sidewalk. Marital problems, looking after relatives, financial problems, divorce and lost employment also seem to be major stressors that exacerbate CMT.

To my knowledge there is no research being done or that has been done on the effects of major stressors on CMT and this is mainly because you can't measure stress. The people in question weren't in a program to measure how they were physically and mentally before their major life event so no one really knows what their CMT was like then. Only they know. Research is not based on your say, it is based on measurement. Telling a doctor you are much worse now than you were six months ago just doesn't do it.

As Dohrenwend and Dohrenwend (1979) said, if we could "measure the magnitude of life events with something approaching the incisiveness with which we measure the magnitude of electric shock or exposure to combat" the predicted relationship would emerge. But, we have what I call soft anecdotal evidence that a person who has CMT, whether it is evident or not, can see it either become evident or worsen when he/she experiences a major life stressor. It doesn't happen in everyone and, just as not everyone reacts the same way to drugs, not everyone reacts the same way to various stressors.

Holmes-Rahe scale of stress ratings.
Death of a Spouse - 100; divorce - 73; marital separation - 65; jail term - 83; death of a close family member - 63; personal injury or illness - 53; marriage - 50; fired at work - 47; marital reconciliation - 45; health change - family member - 44; change in sleeping habits – 16; change # of family get-togethers - 15; change in eating habits - 15; vacation - 13; Christmas - 12; minor violations of the law - 11.

Those are all Holmes and Rahe wrote. I won't attempt to rate the following as the Holmes and Rahe study is based on research, but I'll venture to say that they are just as important and carry just as much weight as any of the other items on the Holmes and Rahe scale. The H&R scale works with normal people not a population that is born with a chronic syndrome.

These are what I'd add to a scale for people with CMT. Coping with the side effects of a new drug; learning a new shoe; a change in mobility, e.g. from canes to walker or from walker to wheelchair; a change in how you see yourself; loss of independence; pregnancy; looking after a family especially with several young children; looking after sick parents or in-laws; being in pain all the time; a severe illness - pneumonia, shingles, heart, colitis, etc.; a severe personal injury, e.g. car accident or a bad fall; surgery for CMT; surgery of any kind; overwork; anxiety about a job; too much exercise; worry over CMT children; trying to do it all.

When you consider that life=stress, then life+CMT=stress squared. Use the H&R scale listing stresses that have happened in the last 24 months. Add them up and if your total if over 300, according to some of the books I have on stress, you'll have a greater chance of illness at your weakest point in the near future. If you are a healthy individual but are predisposed to CMT it makes sense that major stressors could bring it on, does it not? If you experience CMT, it also makes sense that major stressors could make it worse. I can't prove this, no one can, but it seems like common sense if you think about it. Trying to prove it in a court of law is tough but we'll keep gathering information and case histories and perhaps someone will figure out a way to "measure" stress to satisfy those who want the numbers instead of our reasoning.


Surgery (including four articles on amputation)


I was diagnosed with CMT when I was six years old (1986). I had always been clumsy when I was young but we didn't know anything was wrong. I was having bad pains in my legs and I went to a pediatric orthopedist. He discovered my abnormal hip joint and suspected a neuromuscular disease. Three years ago, the doctors decided that I also have a connective tissue disorder called Ehlers-Danlos.


After I was diagnosed, I had many surgeries on my hips to help correct the tendency for them to dislocate. I spent a few summers in body casts and I never want to do that again. All of these operations were unsuccessful and the doctors at the Shriners Hospital for Crippled Children in Houston, Texas, decided that the best thing to do is hip replacements. They can only do one hip at a time and that's where I am now.


In July I had my first total hip replacement on my right hip. I was unable to stand on this side for two months. I was happy to get back to school again on September 27th. I am a freshman at Sterling High School in Baytown, Texas, and I am involved in the orchestra program there. I have been playing violin for three years. I will have my left side done November 17th.

Because of arthritis in my joints and muscle weakness, I take a wheelchair to school and use it for any kind of long distance I might go. Being in a wheelchair doesn't stop me, though. I like going outside and playing basketball and football in my chair, reading, listening to and playing music, and being with friends and family.

I'm anxious to get my next operation done with so I can be moving around better. My new right hip is a big improvement over the old one and is without pain most of the time. It's been a long haul but I'll make it.

The newsletter helps me, my mother and brother a lot, and I thank you for all the hard work and good information you put into it.

Ben Brown, Texas, U.S.A.


Journey towards an independent life
by Ravneet Narang, India

I was not able to write for quite some time due to my health problems. With the increased severity of my CMT, I was walking on the outer edges of my feet. My feet were crooked and walking became very painful for me. This deformity was putting extra pressure on my nerves, giving me intolerable back pain. I was wearing below the knee calipers and walking with some manual support. At that time I was facing my post graduation's final year exams. I was very depressed and had lost the will to go on, but your letter changed that. 

I consulted one of India's most renowned orthopedic surgeons, Dr. K.H. Sancheti. After studying my problem and talking with various doctors, he decided to perform bilateral triple arthrodesis surgery on my feet, which was done June 24, 2000. 
Although the whole process was very painful and time-consuming, I am extremely satisfied with the results. I got my feet back to normal shape, and have improved balance and stamina. Above all, my feet are no longer caged and I don't need any kind of AFOs any more. 

I've heard of many controversies regarding the surgeries of CMT feet, but mexperience says that if the surgery is performed by a perfectionist, at the right time, it can provide you with something you could have never, ever expected.

It's known that the wounds of CMT cannot be healed completely, but the pain they cause can definitely be minimized.
You will be pleased to know I have now successfully completed my post graduation, and I want to thank you for being with me on the journey towards an independent life. 


Amputation: one smart move!
by Sheila Forthman, CO, U.S.A.

From the time I was very young, I remember suffering with the pain associated with CMT. I would count the steps from one place to another just to make sure that I always travelled the shortest route. We had been told that at some time I had polio and the deformity was a result of the polio. I now know that the greater majority of those suffering with CMT are misdiagnosed. I could never wear dressy shoes like all the other girls because they would not stay on my feet. When we had our eighth grade graduation picture taken of the class, I wore a pair of moderately high heel shoes, which I immediately had to take off and walk home barefoot. I had begged my mother for the shoes, so the pain of walking barefoot was worth it. 

When I was 16 years old, my parents took me to see an orthopedic doctor for the first time. This physician was a lot sharper than the family doctor and he made the diagnosis of CMT. It was at this time that the triple arthrodesis were done, also surgery on the toes to straighten them. Now my feet were straight and I was still in pain. My parents thought this was going to be the magic solution to my difficulty walking.  [Sheila Forthman]

I have decided that pain and fatigue walk hand in hand. Pain just makes fatigue more pronounced. When I was working at a full-time job in my 20s, I would come home from work at 5 p.m. and go directly to bed for a couple hours. Sometimes I was even in bed for the night at this time. 

I married a man in the Air Force in 1970. Military doctors are a whole different breed than civilian doctors I quickly learned. A military doctor has more freedom to be creative and does not have to worry about the insurance aspects of medical care. The orthopedic doctor was intrigued with me because he said he rarely saw anyone with CMT. All the literature on CMT will tell you that it is so common, but all the doctors I have ever seen are amazed to finally see someone with something they have only studied in medical school. I was fortunate to have such a knowledgeable and compassionate physician. Dr. Goldberg suggested I consider an amputation on the left side. The surgery is called a Symes and the amputation is done just slightly above the ankle. The prosthesis goes all the way up to the knee.

The pain of an amputation is horrific. I really questioned my judgment those first couple of weeks. After about six weeks the cast was changed to a walking cast, so at this time I began to bear weight. Walking on crutches when your balance isn't real good is difficult at best. Unfortunately, all the extra stress placed on the right foot while unable to bear weight on the left, makes the right break down worse than it had been.So now, after one year from time of first amputation, the second one was done. It took a couple of years to get both prostheses perfected, but the end result was definitely worth it. I can go to the mall and walk for hours, shopping with my daughters and granddaughters. I can take my two-year-old grandson for long walks. 

I can walk without counting steps or having to take a nap to suffer the fatigue. Another plus to the surgery is that I can actually walk on the stumps without prostheses if I need to make the short walk to the bathroom in the middle of the night. It truly changes your life when you no longer have to arrange your walking schedule according to distance from one place to another.

I hate to think what my life would have been like had I not had the amputations done. After the amputations, I was able to work full time for many years. Certainly amputation is not the solution for everyone with pain and deformity, but it is something to think about. My amputations have been 25 years ago now, and I still have no regrets. 

I began suffering with CMT when I was perhaps five or six years old. And like so many of your readers, I, too had a triple arthrodesis. The pain continued, the burning became unbearable, until in 1974 my orthopedic surgeon suggested bilateral amputation of the feet. Sounds pretty drastic, huh, but what a smart move on his part. I didn't hesitate too long before I said yes. 

The recovery years were not exactly a piece of cake. I had a husband who moved out, and two young daughters to care for. All of my extended family lived 1,000 miles away. But you know the old saying...you do what you gotta do. And I did.
Twenty-seven years later, and I am still coping well. Some things are downright hard to do and others are as easy for me as they are for the ‘normal' population. I have noticed as I approach 60 that I am quite a bit stiffer. I still have pain, but sometimes I can actually block it out, and if I can't, I don't let it stop me from doing what I want to do. I had to quit working full-time four years ago because of osteoporosis. I had fractured my pelvis and the extra pain was just too much. So now I do volunteer work at the school one day a week. I take a quilting class and sew in my free time.
My greatest enjoyment, though, is the three grandchildren. We love having them here at the house overnight. I drive five miles about three times a week to take my two-year-old grandson for a walk down the street. He seems to know that I can't chase him so he never lets go of my hand. 
So much of the information in the newsletter is pertinent to my situation, but then there is always the feeling that "I am better off than you are."


Nonunion and amputation
by Dr. Robert Sampson 
Linda here - I asked Dr. Robert Sampson, one of our long-time CMT International advisors and an orthopedic surgeon who has CMT, to write about union, nonunion and amputation to help us understand exactly what Dr. Anderson had done and how it could impact on our lives if needed. This is what he wrote:

UNION is what is supposed to happen when a fracture occurs. It is the final knitting of the bone. This same term defines the satisfactory healing of a man-made fracture such as a fusion or a reshaping of the bone (osteotomy). In both these cases a surgeon has cut the bone and when it heals in a satisfactory period of time it is united. If the time it takes to heal is too long then it is called a delayed union. If the bone heals on time, but is crooked, then the healing is called a malunion.

So, in general, when a fusion becomes a delayed union three to six months have gone by without a satisfactory healing. After six months it is usually termed a nonunion. Depending on the area of fusion (ankle 20%) or hindfoot (10%) or surgical technique (arthroscopic 99%) or (open 20%) different rates of nonunion may occur.

A nonunion is treated in a variety of ways.
1. A surface coil of electromagnetic fields. This is worn over the cast. There is no perception at all of feeling electricity. These coils are 80% effective at bringing about a succesful union.
2. A surface coil of ultrasonic field. Results about the same.
3. An implanted electromagnetic field. This is a small battery - the generator and coil to that is implanted right into the bone. Results: 80% effective.
4. Repeat the surgery often using a bone graft. The graft brings fresh, living bone cells into the healing area. The graft is usually harvested from the pelvic bone. Often, when redoing the fusion site, an electrical device is used in conjunction with the surgery. Combined results about 90%. 
Notice that once a nonunion has occurred there is always less than 100% chance of getting a good union.

Factors creating a nonunion are: luck or no luck, general nutrition, ability to rest the fused joint, surgical technique especially getting a nice flat surface area and compressing it with screws or other hardware. Tobacco is a no-no as its use increases the rate of nonunion by 500%! Prior infection decreases successful union. Neuropathies such as diabetes or CMT also increase the risk of nonunion. My experience has been that diabetic neuropathy is far more likely to cause nonunion than is the neuropathy of CMT.

Signs of a nonunion are continued pain, swelling, redness and a feeling of heat at the surgical site. Confirmation is by regular and sometimes by special X-ray studies.
Amputation is what orthopaedic surgeons call the ultimate operation. It is the salvage for almost all orthopaedic procedures. It is met with great psychologic resistance by most people. Interestingly enough, once completed it is one of the most successful operations and one of the most appreciated. Probably its acceptance is because all else has failed and the patient is miserable. A world famous orthopaedic surgeon, who had done hundreds of amputations, suffered from a childhood infection and deformity, had his leg amputated at age 70 years. He cried for days, and when I asked him if the pain was causing him to cry he said, "No, it is the lack of pain. I wish I had had this done 50 years ago." His reaction is typical.

Amputations are done when all else fails and repeated surgeries would be fruitless or perhaps wasteful of a person's time and financial resources.

Typically, a good fusion of the foot or leg takes four months to heal and another two months to be useful. Amputations of the foot or leg usually heal in about six weeks and, in the younger person, the patient can even be fitted for the first leg prosthesis in the operating room.

Amputations can take place just about any place on the leg, but certain ones are more common and predictible.

Toes: These usually heal rapidly and, believe it or not, their loss does not usually affect how one walks.

Middle of the foot (transmetatarsal): Good for infections and ulcers under the ball of the foot. No prosthesis required. Sometimes a toe filler of foam is used, but most people just wear a regular shoe.

Just in front of the ankle, leaving the heel: This is a good amputation in the younger person, but can be tough for the limb maker to fit. It is nice because you can still get up at night and go to the bathroom without looking for your leg.

Syme's amputation: This takes the heel and the ankle bone (talus) out and leaves the end of the shin bone to walk on. One can get around some at night without a leg on but is not capable of long walks without a prosthesis. When successful it is a great amputation. It is a hard one for the prosthetist (leg maker) to fit and sometimes the heel pad migrates and must be realigned.

Below Knee: This is by far the most common major amputation of the lower limb. It tends to heal well and be quite useful, but it leaves a short leg, one that cannot be used without an artificial limb. There are a variety of sockets into which one can fit the leg stump. The type of socket depends on the intended use of the limb, the blood supply, the degree of scarring of the wound and the quality of the re-maining skin. The leg itself can be made to be quite cosmetic and one can even select from a limited number of mechanical ankle selections and springiness of the foot. I have patients with this type of operation working in the logging industry, driving trucks and performing many different types of labor and sports activities. 

Above the knee amputation is disabling. It takes a lot more energy to walk with this type of prosthesis and the knee joints tend to be heavy, mechanical and artificial. 
Phantom pain is one of the greatest fears of anyone about to undergo an amputation. Fortunately, it is quite rare in an elective surgery, where the operation is preplanned, the patient is counselled and the surgical wounds clean and neat. Phantom pain is more common in the traumatic amputation where the wound was made by a tree or auto bumper and the nerve was crushed off rather than cut off. Phantom pain is also more common when the patient has put off the operation for too long and their pain has been ingrained on their memory. Phantom pain is difficult to treat and requires the services of a pain treatment center.


Linda here - I've known of Brian Christie for many years through letters from his parents, Mabel and the late Charlie Christie, but I've never really heard Brian's entire story. I found it fascinating. I think you'll agree Brian is one stubborn, gutsy guy! He spoke to me by telephone from his home. 
He's got his life back! 
Brian Christie, 51, of Nova Scotia, Canada, is a husband to Linda, the father of three children (two girls, Rhonda and Kathie, and a son, Robert) and grandfather of three grandchildren, Chris, Cassandra and Holly. 
When diagnosed with CMT 20 years ago, he was working as a diesel mechanic and had worked until five or six years ago. 
How did his foot problems begin?
I had plantar's warts originally and I couldn't feel them. I had no feeling in my feet and in order to get rid of them they had to be cut out. When they cut them out, thanks to CMT, I didn't heal. Nobody had put a name to what I had, so they didn't realize that I might not heal well at the time. The incisions didn't heal; in fact they got bigger and I developed large open ulcers that I walked on for 18 years.
How could he stand the pain!
I have a pain tolerance that the doctors say is ten times that of the average person and I've lost all feeling in my hands, legs and feet. The treatment was painkillers and antibiotics. The surgeon who did the work on the open ulcers told me that he would have been in a coma if it had been him. The intensity of pain was so great that it likely would have hospitalized me instantly, if I could have felt it.
How did he live with open ulcers on his feet all the time? 
My feet were always bandaged... for 18 years. I'd come home from work, take off my safety boots, cut off the bandages, wring the blood out of my socks, clean up my boots, and rebandage my feet for work the next day. If you can't feel what you are walking on or you can tolerate a lot of pain, this is hard to believe but possible.Quitting wasn't an option. I had a family to look after and I had to do something!
What finally stopped him? 
Finally, I began to feel the pain big time. The painkillers I took weren't doing the trick and I couldn't do my job safely. I was working on huge tractor trailers and you can't take those on the road and not be fully in control. You've got to have all your marbles for that! 
By this time, maybe 15 years ago, I went to apply for Canada and provincial pension. I had been diagnosed as having CMT Type 1 with what my doctor calls a "Wild Card"... my CMT does things it isn't supposed to do. My doctor, Joe Dooley, has researched this disease for many years and is still at it as far as I know. I have extremely limited sensation in my hands, lower arms, lower legs and feet. I'd say, I've lost 90% of the sensation in those areas and 80% of the strength. 
I got into an argument with a table saw three years ago and cut off four fingers. It took six hours for surgeons to sew them back on. I only had one shot of morphine and that was immediately after I did it. I had general anesthetic while they managed to sew three of them back on but I couldn't feel much of anything when I first cut them off. Fortunately, I have about 90% movement in those fingers although my hand is very weak. 
From the beginning, when I first developed open foot ulcers after the plantar wart surgery, I was running back and forth from the hospital three times a day to have the ulcers packed and my dressings changed. Needless to say, there was no time for anything else with the hospital and work. Then the doctors showed me how to change my own dressings but insurance wouldn't pay for the bandages. The cost was about $350 a month. I finally bought them from a medical supply outfit and did them myself.
I tried to make the provincial health people see that going to the hospital three time a day, 31 days a month, cost them far more ($3,000 to $4,000 a month) than it would opposed to just giving me the bandages and letting me do it at home. They said no, they didn't want to set a precedent. Four years ago, the government began paying.
To close these open wounds, they gave me every type of oral and IV antibiotic known to man, along with hyperbaric oxygen treatments which was a big waste of time. The IV antibiotics made my veins collapse so they installed a Portacath, a permanently implanted catheter, in my chest that lets them put a needle into it without interfering with my veins. The drugs didn't work although they damaged my stomach, my liver and kidneys. 
Twice they tried skin grafts and they just fell off. I've tried home remedies, just everything. Anything anyone told me, I tried. I had nothing to lose. 
In September of 1997, I woke up one morning and was walking from the bedroom to the living room and my son asked me, "What's with the blood?" I took off my sock and bandage to see what was happening and apparently I had an infection so bad that it had literally exploded the end of my foot. The skin was all off. 
I went to the hospital and the surgeon looked at it and admitted me to try a course of antibiotics to see if he could control the infection. Five days later he said he couldn't, that amputation was my only option. At that time he didn't know how much he would have to take off. I still had these big ulcers on the sole of my foot. 
He amputated right behind the ulcer on the ball of my left foot. It was called a forefoot amputation. He left the amputation open, put a couple of stitches in each end and the rest was packed with Kaltostat, a seaweed dressing. You could actually see that stuff drawing the infection out of the rest of my foot. Within three months my foot was totally healed over, the first time in 20 years. I can actually sleep without a sock on! 
The right foot was worse. Between Christmas and New Years 1997, the open ulcers got infected. I went to the doctor on Jan. 2, was admitted to hospital the same day. The surgeon took one look at my foot and told me it was gas gangrene and he didn't know what he could do with it. They couldn't amputate because of the gangrene but they did operate on that foot to try to clear the gangrenous tissue. It took three months for it to heal although it still had the open ulcers. All they did was remove the gangrene. Three months later, March 1998, they did the same procedure on the right foot that they'd done on the left. I was walking on it three months later. I was even walking around a campsite, up and down hills. 
After 20 years, they finally described the organism they couldn't identify in the swabs they had taken of my ulcers for so many years. Apparently, it takes four or five organisms combined to create gas gangrene. The one element that was missing was in this right foot. When they had my actual forefoot in their lab, after the amputation, they found the element they needed to confirm the diagnosis of gas gangrene. To look at me today, and if I had on a pair of boots, you'd think I had nothing wrong with me but one finger missing. In reality, I have both feet partially amputated, and I can't feel anything from the knees and elbows down although I can move those areas. The major things that are wrong with me just don't show. 
How does Brian feel about the amputations?
No problem. Best thing that ever happend to me! They have allowed me to get up and move. There is no more bleeding, no swelling and a whole lot less pain. I can sleep in my bare feet (I wore socks and bandages for 20 years) and I can get on with life. The only thing I can't do is swim because of the Portacath in my chest. I could tear it lose. It has been almost a year and everything is fine. 
I was offered prosthetics to replace the parts of my feet that are missing but they wanted $1,400 apiece for them. So, I buy a pair of high-top sneakers, stuff the end of the sneakers with gauze bandage, put 'em on, tie 'em up and walk. I use a cane for balance sometimes. I have a wheelchair and a walker and a ramp on my house that I fought for years to get and a bathroom specially made for me all done through grants I had to fight for but I'm doing okay, I'm stubborn.
I've never used my CMT as an excuse. It is not an excuse. To me and my family it is an inconvenience and that's all it is. We're doing fine.
My wife, Linda, is a personal care workers (PCA) and has worked in nursing homes all her life. She takes all this in stride, but without her, I wouldn't be where I am now. I don't think she realized the marriage vows included what she's been through. I love her so much! 
My family doctor, Dr. Yvonne King, has kept me alive. She is incredible. The two surgeons, Dr. Ralph Burnett and Dr. George Sanson, and Dr. Walter Shlech, head of the infectious disease centre for the Maritime Provinces, and Dr. Joe Dooley, the CMT researcher, are all to be highly commended. If it wasn't for them I wouldn't be here. To me, family is everything, without it nothing else matters. I hung on for me and for them. Failure was not an option and now things are good.


Mind over matter 
by Ian Thomas, Wales, U.K.

My name is Ian and I have CMT type 1A. I am a very happily married, 41-year-old father of three children, two of whom also have CMT. I am also a proud young grandfather of a 15-month-old grandson.

First, a brief history of my CMT. Like many people with CMT, I had symptoms from an early age, four years old in my case, and was thought to have Duchenne muscular dystrophy. Thankfully, this wasn't so and, at 19, I was correctly diagnosed with CMT.

Over the pat 22 years, I have had the following surgeries on both my left and right : triple arthrodesis; wedge tarsectomies; Dwyer osteotomies; Keller procedures; P.I.P. arthrodesis; excision of 3rd and 4th metatarsel head; tenotomies ; Steinler procedure (left); amputation of 2nd and 4th toes (right); excision of cuboid (right); and various other small procedures.

The combination of having so much surgery only compounded the progressive nature of CMT. The result was a breakdown of my ankle joints, so much so that widespread osteoarthritis was causing so much pain. I had worn out the ankle mortice holding the bones of the leg to the feet meaning the tibia was sliding and giving way across both ankles.

Having researched options myself and their long-term prognosis, I decided to discuss the future with my family, friends and my specialist, consultant orthopaedic surgeon, Mr. Malcolm Downes. Keeping mobile and, if possible, pain free was my aim, and if that meant amputation, then I was physically and psychologically ready for it. The alternatives were ankle fusions or ankle replacements. Neither were the real answer, at least that is what I believed and my surgeon agreed.

Fortunately, in the U.K., we have a National Health Service that is free to all citizens, although waiting lists are long, and I waited for 18 months for my amputations, long enough to have changed my mind, but I knew this was the right option for me.

August 1998, my first below knee amputation took place. I have to say it was quite a painful experience, more than I had anticipated, but within seven days I was released from hospital and was walking again five weeks later at the local limb centre. Walking with an artificial limb is like walking on stilts, good balance is needed, and providing you have no tender areas on the stump, then it should be totally pain free as is in my case. Phantom pains lasted some three weeks. I also had cramps in the stump but only in the first three weeks.

November 1998, three months to the day after my first surgery, I had the second amputation. This time I had no pain, not even phantom pain or cramps.

Walking with two limbs began in earnest the beginning of December 1998, and the first week of January 1999 I was back at work, unaided, and indeed I drove myself to work. The only adaptations to my car is that I have larger foot pedals. I have worked as a volunteer advisor for seven years in a local Citizens Advice Bureau. My aim, within the next year or so, is to gain full-time salaried employment.

My walking gait is now so good that an aunt said to me recently, "Ian, I have not seen you walk so naturally since you were a young child." Indeed, whenever I visit the local limb centre, I often get asked by other amputees, "Are you calling to collect someone," not realizing that I walked in as a bilateral, below knee amputee patient and will walk out as such.

May 1999 I collected my new limbs. They are state of the art with a spring mechanism within, so I have a greater bounce when I walk. I now feel like running everywhere. When making up these new limbs, the prosthetist asked what height I was prior to amputation and whether I would like to be shorter or taller. I told him I had stood six feet tall but would like to be even taller...a big mistake! For two days I was walking around with my head in the clouds. Why? Because I was raised to six foot three, and believe me, those extra few inches make a whopper of a difference; my centre of gravity was way out and all my trousers were half mast. So, reluctantly, I had to agree with the prosthetist and he lowered to six foot one, which is quite nice. 

My birth feet grew only to a U.K. size 3 shoe. Now I wear a size 10, and believe me, what a difference and probably why I now have such good balance.

I am under no illusion that amputation is a salvation for everyone but I do say if you are like me and have undergone so much traumatic surgery and can see no end to it all then carry out your own research, talk to medics, better still talk to amputees at your local limb centre. Of course, amputation will throw up its own problems, but think positive...mind over matter.

The limb centre I attend is attached to a major trauma hospital, and I have been asked by the sister in charge if I would give some of my time to speak to trauma patients who find the experience of losing limbs literally ‘the end of their world.' They just don't know it yet but just a few weeks down the road they will be walking again.

My dear wife, Leona, children, Ceri-Ann, Alastair and Leona, have been a tower of strength. Morever, not many 15-month-old children have the capacity to assist their grandfather in taking off his legs! Notwithstanding, my parents and extended family and friends have been fully supportive, and I am eternally grateful for that. Indeed, I cannot thank everyone at Morriston Hospital, Swansea, South Wales, enough.


Testing/Telling


Courage For Our Conviction
for obvious reasons the writer wishes to remain anonymous 

Some will view this as an extreme act of selfishness while others will view this as an extreme act of selflessness. These words on paper are not to justify our actions. They are meant solely to help in our grieving process. We love our baby James Alexander with all our heart and soul. Hence the following...

From the moment of January 13th when our unplanned pregnancy was real, we were elated, surprised somewhat and overcome with bursting energy towards this little being within. A mother for the first time! I am really ready for motherhood, really honored.

For James Alexander's father, I will say he was simply beside himself with joy. He has a wonderful 19-year-old son from a previous marriage and cannot believe, that in his young 50th year of age, having the good fortune of becoming a father once again.

We knew though that it was not as carefree and normal as most pregnancies would be. Myself, at 36, had always denied serious consideration of giving birth, the main reason being a hereditary disease, of which I carry the gene, called Charcot-Marie-Tooth (CMT). This muscular disease affects the nerve to muscle relationship, mainly in the extremities. It may vary from mild loss of muscle control to severe crippling. As well, pain in varying degrees may occur. A base test question a neurologist will likely ask is, "Can you skate?"

Not only do I carry this dominant gene but I remain in my pedigree the only one who could pass it along. One of my three brothers has a severe case of CMT; however, as he is a Roman Catholic priest, the chance of him passing this along is very slim.

So, the search for answers, exploring historical and current updated knowledge regarding CMT, and generally uncovering every rock, nook and cranny began. Along with this search for knowledge came every test we felt necessary. Our two main queries throughout were: the best and worst scenario for our baby and the effect of pregnancy on me as a CMT mother.

So, we wait and we wait for blood tests to give us clues so we may proceed with amniocentesis. What genetics at this point has achieved is to identify if our unborn baby carries this gene or not. Unfortunately, they are yet unable to tell severity. The chances of carrying this gene are 50% no or 50% yes.

Again we wait. We stressfully, anxiously wait. Two weeks turns into three which turns into four. Finally, at 20 weeks, we are given the news that baby James does indeed carry the CMT gene.

Will I ever forget that moment? It was a nightmare. I was standing outside my body looking in on some miserable scene. This was it. We previously knew the results would be 50/50. We therefore worked toward our decision before these facts were shared with us. Once the dilemma became real, it threw us totally into indecision again. Yes, we have uncovered every rock we could dig up. Yes, we requested tests, tests, tests. So much knowledge can be dangerous.

Our bleeding, breaking hearts and souls would hold the key. The easy decision was not to make one. Go to term. The hard decision, the individual decision was to suffer baby James Alexander's possible pain now, out of enormous love for him, so he may never have to feel this himself in his life outside the womb. This decision was ours and ours alone.

For each of us we trust that with the help and support of loved ones around us and with the courage from the very deepest parts in our hearts and souls, we do as parents what we believe is best for our children.

James Alexander rests peacefully with other family members and friends with special prayers and blessings on May 7, 1994. We were able to hold him, caress and kiss him and will forever love our child, our son, James Alexander.

Whatever the decision, make it a happy one. Know you have decided the best for the three of you as a family. The strength in your convictions will move you forward while the doubt in them will disable you.

Excerpt from The Velveteen Rabbit 
"What is real?...Does it mean having things that buzz inside you and a stick-out handle?"
"Real isn't how you are made," said the skin horse. "It's a thing that happens to you. When a child loves you for a long, long time, not just to play with, but really loves you, then you become real."
"Does it hurt?" asked the rabbit.
"Sometimes," said the skin horse... "When you are real you don't mind being hurt...But once you are real you can't become unreal again. It lasts for always."
Thank you baby James for making us real.


How to tell
Question: How would you tell an adult or child you have CMT or would you tell at all?
Judith Monds of Florida writes: "To comment on 'to tell or not'. I feel somewhat embarrassed to tell anyone but I tell what I know about CMT, so they will look at me and not down at the floor. I use a wheelchair so I'm eye to eye with little children and this lady was trying to get her little boy to say hello to me, and as they left, he did say, "Hi ya, bye ya," and laughed back at me."
Peggie Weston in Arizona writes: "Most of my life I have worn short leg braces that are not visible to the public. I have worked many jobs, gone to college, etc. I normally surprise people greatly when they see me try to go up or down steps, as they had no idea I had a problem. I have never told any new acquaintances about my CMT unless they asked, or in a group conversation. I have never tired to hide it but it just worked out that way for many years. Now I must use a cane, along with my braces, so it's much more visible. But I have made a practice of doing all I can for myself and never use my disability to get help. Therefore, I still never mention it to any new acquaintances unless they ask.
"I have found that after people get to know you for yourself and accept you as a person with a brain, sense of humor, etc., then my disability seems to be secondary. This is the way it should be but many times is not. So, if I ignore my disability, they seem to also. I seem to make friends very easily from all walks of life, get along with the public well and am very willing to share information about my disability when asked but I might add, it sure would make it easier for me if I had broken my leg or been in an accident…they would be much easier to explain!" 
Tracy Mankins of Ohio writes: "I want to say that as an adult, who was once a little kid with a scary disease, I can tell you from first-hand knowledge that it is better to know what is coming than not to know. Kids have amazing imaginations, and if they hear their mommies and daddies crying off in another room or whispering about something that is wrong with them, they will imagine all sorts of awful things. The things they will imagine might even (probably will be, actually) worse than the truth of the matter.
"Aren't your kids at the doctor's office with you when their diseases are being discussed? You would be amazed at what a young child can pick up on.
"Kids also know when they are different and it will scare them if they don't know why or what to expect next.
"Please, please, please be honest and open with your children. Don't paint a picture of doom and gloom for them, but tell them the truth about their diseases. Also, make it a point to tell them that the doctors don't know everything. There are many of us adults out here who have outlived many prognoses in our lifetimes. And, stress strongly that they can and will live happy, productive lives, no matter what their disease is or what the docs say.
"And please…don't let your kids watch any telethons. Those 'teary' profiles that are filled with little kids suffering and dying are horrifying to a child. I know, because they used to horrify me. I have lived my whole life fearing that I would die tomorrow…feeling like I had no future. I am just now (at the age of 29) sometimes able to see some light in this area. What caused this? Watching the telethon as a child.
"Sorry to come on so strong, but what I really care about here are the little ones. The adults with neuromuscular diseases know what it is to be in their positions. Please listen when we speak."
From Stella Sauers, PA, U.S.A.
To Tell…a difficult question and one I'd have no answer to, but from my experience with life, I know anyone can handle anything thrown at them if they choose to.
We did not know about CMT until our Tina was diagnosed about 16 years ago. Our other daughter was told she has MS about two years ago – her symptoms were nothing like Tina's.
As they were growing up, we thought with no problems, I always told them…we're all born with a handicap of some kind or other and that I (mom) was going to be their biggest. They still believe that one!


​Having children without CMT 

There is continuing research into this and you should talk to your OB/GYN about it. 

Preimplantation genetic diagnosis (PGD)
Can a woman who has CMT make sure she has children without CMT?
A woman writes to the Genetics Department at Baylor College of Medicine in Texas via e-mail:

"I am currently trying to get as much information on the subject of prenatal gene testing (and am not even sure if that is the correct term) as I possibly can. Perhaps there is some information that you may have that will prove helpful. I am a 28-year-old female with Charcot-Marie-Tooth disease. I have not been formally tested for a specific "type." As far as I know, my grandmother has CMT. She had four children (all boys); three of them have CMT. One of them is my father. He has three children. Two of us have CMT, both girls. My brother is not affected.

Question: Can I have children without CMT? Is there such a thing as testing for the CMT, by way of in-vitro, before I am actually pregnant, and only being inseminated with "children" without CMT? Or is this just science fiction?
"I understand that there is a 50% chance if I just "wing it." Unfortunately, I don't like the odds of a coin toss."
Answer: I am one of the genetic counsellors here at Baylor. In response to your questions: Yes, it is possible in some cases to have a pregnancy without CMT other than the 50/50 chance if you just "wing it." This is not science fiction. We refer to this testing as preimplantation genetic diagnosis (PGD) and we have doctors here at Baylor who will do this type of testing. We are just one of several centers in this country that perform PGD.
PGD is performed by going through in-vitro fertilization (IVF), and when the embryo is at the 6-8 cell stage, a single cell is removed for genetic testing. How the genetic testing is performed depends on what we are testing for. Based on the family history information you provided, the CMT in your family could be either autosomal dominant or X-linked. Have you been seen by a geneticist or had genetic testing? There are several different genetic forms of CMT. I recommend that you see a geneticist to clarify the type of CMT in your family.
Our preimplantation genetic diagnostic team currently offers PGD for couples where the man has X-linked dominant CMT by determining the sex of the embryos and only implanting male embryos because male offspring will not have X-linked CMT. If you have the X-linked form, this means that all of your children (sons and daughters) would have a 50% chance of inheriting your X chromosome with the CMT gene and thus would also have CMT. It may be possible for genetic testing to determine which X chromosome was passed to an embryo, but I would have to do some further investigating.

In summary, PGD may be a possible option for you, but we would first need to know what type of CMT you have. If you are interested in more information on preimplantation genetic diagnosis (PGD) to ensure that your child will not have CMT1A or HNPP contact: Noelle R. Agan, M.S., Genetic Counsellor; Tel: (713) 798-4363.

If you are already pregnant and want to know if the child will have CMT
from Lisa G. Shaffer, Ph.D., Associate Professor, Department of Molecular and Human Genetics; Director, Kleberg Cytogenetics Laboratory, Baylor College of Medicine, Houston, Texas, U.S.A.
"We have been performing CMT diagnosis in amniocentesis samples since the spring of 1996. Since January 1998, we have been performing CMT testing in CVS specimens. The test is reliable and fast. We can have both the cytogenetic (chromosome) results and fluorescence in situ hybridization (FISH) CMT results to the genetic counsellor or physician within 10 days.

"We require one of the following before we will do a prenatal test for CMT1A or the 1.5 Mb deletion associated with HNPP: 1) the molecular results from Athena (Athena Diagnostics, Four Biotech Park, 377 Plantation St., Worcester, MA 01605, U.S.A.; tel: 1-800-394-4493) will be sent to us for review on the affected parent; 2) FISH was performed on the affected parent in our laboratory; 3) FISH is being sent on the affected parent for screening in our laboratory, prior to or concurrent with submitting the prenatal specimen.

"We prefer to discuss individual cases with genetic counsellors and physicians and not the patient. I do not feel that genetic counselling is effective communication over the telephone and prefer that the patient is in contact with a specialist in the field."

Note: Remember this only works on CMT1A or HNPP right now (I'm sure things have changed since this article). For more information on prenatal testing to see if your unborn child has CMT1A or HNPP, please get in touch with Baylor College of Medicine, Kleberg Cytogenetics Laboratory, One Baylor Plaza, Room 15E, Houston, Texas 77030, U.S.A.; Tel: 800-411-GENE in the U.S.A. or (713) 798-4984; Fax: (713) 798-3147; e-mail: kcl@bcm.tmc.edu and website: http://www.bcm.edu/genetics/


​Should you tell a potential partner about your CMT?

The question from A.B.: Now for the first time in a long time a person potentially important to me has entered the picture. If anyone has faced this situation and found a way to deal with it, I would greatly appreciate hearing from you. I don't want (I will not) repeat my past silence. At the same time, I don't know enough to say much without frightening someone. It's sort of one of those damned if you do, damned if you don't scenarios.
I do believe that not being forthcoming is one of the worst things one can do. So, maybe, it's one of those "no pain, no gain" things, as the weightlifters say. If anyone is not ready to accept us for who we are then it's time to keep on looking.
Readers answer:
From Candie Mann in CA, U.S.A.: When I first met my husband, my symptoms were not real obvious. I chose at that time to say nothing. When we decided to get married (six months later), I told him I was "one of Jerry's Kids" and what little I knew 19 years ago (not much at that time). I felt that if he loved me, he would accept whatever possibilities, problems, restrictions and regressions this disease could throw at us. It was the right decision for me. He is my greatest protector!
A.B., in your case, I think you should be up front. If this person is the right one, she will accept you as you are and will be. If not, it would be best to know that now, rather than later. This could save a lot of heartache. 
Hello A.B. - When I first started going out with my wife (Spring '88), I explained my disease to her so she'd know why I had a limp. I showed her a copy of the CMT Newsletter as it made more sense than I could. It contained information about the conference in Toronto in 1988. She asked if I was going and I replied that I didn't know...I wasn't planning to go. A couple of weeks later she asked again if I was going. I said I didn't think so. She informed me that I had better go because she was going. I asked why. Her answer was that she wanted to know all she could if she was going to hang around me. We went and enjoyed ourselves greatly. It was a pleasure meeting Linda and the other fine people there.
By all means tell her. We are all getting to the ages where a partner's persona and character are far more important than mere looks or athletic ability. Good luck...mine was great! We married in March 1990 and it has been great.
Michael Robinson, AK, U.S.A.
Because this was on our e-mail A.B. was able to answer Michael:
Right on. I agree with you 100 per cent. You're lucky that you found a good woman. I've found that a small percentage of ladies that I went out with were bothered by my walk and my hands curling up. But fortunately, the majority of them accepted me for who I am.
Barbara Leuzzi in NYC here - A.B. - I would be honest. Tell her the truth. If she really loves you, it won't matter to her. That is how I feel.
Linda here - I met my husband Ron through a small personal ad I placed in the Personals almost 20 years ago. He read the ad, then cut his mother's ½ acre of lawn but remembered the box number and that night wrote a letter suggesting I call him to arrange a date.
I didn't tell him on the phone that I had CMT but I did say I had a disability and didn't walk very well. He replied that his eyesight wasn't very good and that we all had something.
I was very nervous as I threw myself up the curb of the hotel restaurant and then struggled to get into the lobby. When he stood up to greet me, I couldn't believe how tall and handsome he was. We talked over coffee for hours and I told him about my CMT and what could be in store for me but I had no idea that I'd eventually start CMT International or be unable to take a step without a walker.
We've grown together through the years, coping as best we can with my CMT.

To test children or not
Now to the question we asked about whether or not children should be tested for CMT
Peggie Weston writes: "My daughter was raised with the knowledge that she would very likely have CMT, that it wasn't that difficult to live with, and I tried to show her that a person could have a very good life with CMT. Also, I told her that her children would very likely have CMT - a 50 % chance. When she was 13, I took her to my neurologist and had a nerve conduction study done on her as my doctor said he could tell from the NCS whether she had CMT or not. He found no sign whatsoever in her. However, I was afraid to believe him and told my daughter he could be wrong and to stay prepared just in case.

"Our life went on, she has never shown any sign of CMT, has four beautiful children and, so far, they have no sign of it. However, she carries a copy of your drug list and each of the children also has a copy in each doctor's file. I was given bad medication twice and am very leery of them receiving any possible toxins. If they were all tested, and any had CMT, insurance would be very difficult to obtain.

"I am very much against having young children tested unless they, as children of a CMT parent, request that a test be done. I am afraid that knowing they have a physical problem might change their outlook on life. Every person in this world has some type of problem and we have to grow up and learn how to handle any problem that comes our way. It is the inner strength that is much more important to instill in a child, along with information on how to handle any problems.

"My CMT is a fact of my life and a fact in my family's life. We all stay updated with any information that we can find and share and watch the young children for signs and protect each other as much as possible. Since we now know what CMT is, we know what to watch for and they would not have to go through all the misdiagnosis, school problems, etc."

Sue Ormandy, NY, U.S.A. writes: Thanks to you and the CMT International Newsletter, my husband and daughter are now a part of the study headed by Dr. Shy in Michigan. As a result of the article in the October issue, I had them set up an appointment with Dr. Shy. As it turns out, our local neurologist knew Dr. Shy's father (Dr. Milton Shy) and was actually inspired by him to become a neurologist!


​​Tips for Living with CMT
Go online to https://www.facebook.com/groups/cmtus/ or https://www.facebook.com/groups/cmtcanada and ask there if anyone has a solution to what you need. Chances are good someone else has already been there and found one. 
Bathing
If your hands are too weak to hold a full size bar of soap try Baby Dove which is pretty small or cut a regular bar of soap in half
Try the liquid soaps with a nylon pom-pom. The pom-pom can be hooked around you hand and once you get a lather going you can do your entire body without holding any soap. 
You can lay a squeeze bottle of liquid soap down on its side and press it with the side or palm of our hand to get the liquid out.
Shampoo and liquid soap can be diluted if you aren't strong enough to get it out of the squeeze bottle in its concentrated form. 
Boots and shoes
Here's an overshoe that will fit over extra-depth shoes and AFOs. The only catch is you have to have fingers strong enough to squeeze a quick release plastic buckle. You know the kind that they usually put on a fanny pack? This buckle could be quite easily replaced with Velcro by a shoemaker or repair person if your fingers are too weak to squeeze it. 
Neos Overshoe makes a line of waterproof, lightweight overshoes and the Voyager style XS to XXL take sizes 3.5 to 15 for men, 5 - 16.5 for women and 12.5 to 11 for children. With sizes this varied chances are you'll find one that will take both your extra-depth shoe and your AFO and it will still be fairly easy to get on. 
For further information go to www.overshoe.com or call 888-530-6367 and ask for John Siminger. Tell him you'd like a brochure featuring the Voyager. 
You may also write to Neos Overshoe, P.O. Box 540, 823-B Ferry Road, Charlotte, VT 05445, U.S.A. or fax (802)425-5858.
Brushing your teeth
People who have CMT can find that their hands and wrists are not strong enough to hold a toothbrush. Many have found that an electric toothbrush does a quick and excellent job. 
Try moving your head instead of your hand and wrist or move your whole arm to make the brush move on the teeth. 
One man actually used elastic bands to hold his toothbrush or electric razor onto his hand so he wouldn't drop it in mid brush or shave.
Wind elastic bands around your toothbrush to make the handle nonslip or get a roll of foam and glue it to the brush to make the toothbrush handle bigger and easier to hold.
Search the internet for different devices to enable you to brush and floss with weak hands and wrists. There are many devices that will allow you to do this out there.
Clothing 
If seams in your underwear or socks hurt, turn them inside out. No one will ever know.
Velcro can be put at the waist of men's and women's slacks and jeans. Leave a tab so you can grab it with both hands of you have no pinch to grip it to open it. 
Metal rings and fabric loops can be put on fly zippers and if you keep your eyes peeled you can often find really attractive zipper pulls for jackets, etc. 
A reader writes: I have been adapting my son's jeans, dress pants, etc. for years and he, too, refuses to have Velcro of any kind (too noisy). Buy a pair of waxed shoelaces - the dark, thin ones for men's dress shoes. Thread one end through the small hole in the zipper to form a loop large enough to slip one finger through. Knot it, and then because it is waxed, it will lie flat against the zipper itself. It stays in place, nothing shows, and it can be pulled up and down with ease. 
One pair of shoelaces will make enough loops for several pairs of pants since you don't need a very large loop. I change all buttons on his pants to either snaps or slide hooks. I'm sure there are many others out there who have developed, through necessity, their own adaptations to clothes, shoes, and household equipment.
I have CMT and have problems grasping small items, e.g., zipper tabs. The solution I came up with was an ordinary key ring (comes in all sizes) attached to the tab. I put my finger through this ring and pull the zipper up or down. So simple!
Also, if you have trouble grasping a glass bottle or jar, wrap a rubber band or two around the item and your hand won't slip off. - Douglas Duguay, QC, Canada 
Cold Hands and Feet
You can often find a person at a craft show who makes items like pillows filled with dry beans or grain that can be put in a microwave and heated or cooled in the freezer. Ask them if they can make you a muff for the car that you can put in the microwave and heated. If you wrap this in a small blanket or hand knit a case for it, the heat will last for up to four hours. You can also take apart a pillow filled with hulls or rice and remake it into a muff. Or start from scratch and make one yourself. 
For terribly cold feet you have to know first that most people who have CMT cannot get their hands or feet warm without some outside source of heat. Just putting an extra blanket or an extra pair of socks on doesn't work. 
You can work with your feet on a heating pad set at low. 
Wear wool socks to keep the heat in once your feet are warmed up. 
Put a heating pad at the bottom of the couch or near your favorite chair so you can put the soles of your feet on it for a while when you are trying to relax. It is almost impossible to relax when you are fighting the cold and it takes a lot of energy to fight the cold...it wears you out...but first try wool socks. 
Cooking 
Design your kitchen so you can slide things on the counter and don't have to pick them up.
Buy pots with two handles or get a separate handle that clips onto your pots so you can pick them up with two hands. 
Get everything prepared BEFORE you start. That way you don't have to keep calling your husband from the other room or in front of the TV. Makes for harmony in the house. 
Eating

How do you manage at buffet lines when you can't hold the plate for hand tremors and using a crutch and nowhere to set the plate to dip food? Any suggestions?
Roz writes : In one simple word, when at a buffet ...ask. People aren't really sure you need help so just ask. There are usually waiters there to help. They will even take the plate to your table. Just don't be shy. That is better than being clumsy. Even your friends aren't sure what to do and would much rather you told them. No one minds. Even strangers will do it and forget in a second and everybody feels better.
Falling 
Nightlight a must - Often I read about people with CMT falling or having a terrible time trying to walk from the bedroom to the bathroom at night. 
Why not either install little night-lights along the way (they have battery run, cheap, stick-on ones if there are no plugs) or use a urinal in the bedroom and empty it in the morning.
Handling money
Agnes asks - How do you manage at a fast-food drive-through when they slap your change on top of the bills and you can barely hold it? Or when they don't give you time to take the food before they turn it loose?
Becky M. answers: I have used a styrofoam cup for change to be placed in. As for time to get a good hold of your items, I say to them, "Wait till I get a good hold on it, please."
Denise H. answers - I carry a large billfold and it has a large zippered section for coins so I just unzip it and say "my hands don't work can you please just drop the coins in there and give me the bills." Then I lay down the bills and get them put away afterwards.
When in a restaurant my family is usually with me and if not I ask for help.
Linda here - When I go to the bank I ask them to give me my money in bills no bigger than a $20. In Canada we have one and two dollar coins so it means handling a lot more coinage. 
I've sorted this problem out by always giving people a bill and asking them to put the change in the zippered change section of my wallet. A couple of times a month or more I empty the change into a jar. The last time I counted I had over $80! 
Using this method, I don't handle coins and I effortlessly save a nice little piece of money for whatever I want...mainly Christmas presents this time around.
As for drive-throughs - ask them to count the change in front of you and then wrap it in a napkin and put it in the bag with the wrapped food. After you've eaten, you can take your time to put it away. 
Holidays
Coping with Christmas - Leanne Kelly writes:
I think it would be interesting to read about how people deal with going to family and friends' houses that are not accessible.
Patty Watkins-Root answers: I second Leanne's suggestion! It seems that every Christmas my family picks a cabin to congregate at that has about 100 steps or puts me on the second floor when the bathroom is on the first. I think I will just stay home this year and they can come visit me if they want to get their presents!
Kathleen Smith writes in reply: Hold that thought and stick to it! When it got hard for my mom to go out, I had all the family gatherings at her house, but a different member was in charge of each event, including the meal and getting the house ready. Mom used so little of her house that just a few flowers, table decorations, and little dusting was enough to make it presentable. It was a win-win situation for everyone, as no one had to "clean house" and Mom didn't have to go anywhere and get worn out. Mom was able to present her best self, so none of my siblings realized how weak and frail she was. That was how she wanted it, since we didn't know why she was failing so fast and her doctors told her it was her own fault.
Joanne Wiklund answers Kathleen. We did the same thing with Mom! But when I read your post, I wanted to drop kick that doctor who said it was her "fault" she was failing so fast, and I don't even know what was wrong with her! How can they do that? I think hope is something every doctor should take a class in.
I know sometimes you have to be realistic, face the problem like a man, all that stuff, but a little hope is an important commodity when the stuff is hitting the fan!
Lisa Labelle from Quebec here: My parents live in a two storey farm house. The stairs, to me anyway, seem about as steep as Mount Everest! So, when I'm there, I stay away from liquids because I know that I have a terrible time getting up those stairs to the bathroom.
My mother has now applied for disability (her CMT has really come about in the last three years) and the stairs are getting hard for her, too, so eventually they will have to put a bathroom in downstairs.
Betsy Riggs here: At our church we have several kinds of occasions when we meet at other members' houses, and I always have to ask if there is a way I can get in. I don't even think about going to the bathroom. I've gone in through a lot of garages, and at one house I would call ahead and the host would meet me and push me up the stairs that I couldn't make on my own.
It's a shame, because you can't ask your friends to buy houses that are accessible, but you don't want to be cut off from the people you like most.
I've told my kids that if they move they have to find a place that I can get into. Only one has moved out so far, and she has moved into a completely accessible apartment building. 
My best friend's husband wouldn't put a railing to their front door "because it didn't fit the style of the house." She has since divorced him, and I go in through the garage.
Lamar Stephenson here: I fully agree about holidays. Holidays were always spent with just my immediate core family. Now that they are gone, it is not the same. Most people I know are tied up in their own family celebrations on holidays. I usually tried to stay awake all night before one and sleep all day. In the last couple of years I have made some dear friends that I spend some holidays with and that has been great for me.
I loved to decorate everything for Christmas for years, but as my CMT progressed it became harder and harder. Many things such as the lights for a 50 foot outdoor tree and more than a few thousand outdoor lights on the house have been packed for years. Let's face it, my ladder and roof days are history! I am finding a new joy in the holidays, but I have to hunt for it. It is not easy, but gets easier every year.
This is Jennifer Selover: I did want to say to Lamar that I understand his feelings. For the last two years my CMT has been so bad I could not have cared less about Christmas stuff (except for the birth of Christ aspect). My 20-year-old daughter, bless her heart, tries to make Christmas in our house like it used to be. Without her I don't know what I would do. I love decorating for the holidays which depresses me even more knowing I can't do it any more. 
My suggestion to you is to run a small ad for a teenager to help decorate your house, especially your outside lights. You'll be amazed how much better you'll feel just to sit back at night, watch TV, and smile as you gaze on your lighted Christmas tree and house. Many kids need the money for buying gifts. You might also check with your local churches. Ask for the youth pastor, he may have a youth group that would do it for free. 
The other thing I did last year, which I swore I never would, was I bought a lighted fake tree. It takes minutes to put up, is 7' tall and has 500 small twinkling lights. It's beautiful! Even my daughter, who was totally against the idea, has come around and loves the beauty and ease of the tree. As for the aroma, I safely burn wonderful gel Christmas candles and the holiday joy is coming back even with my small family. I know you are alone Lamar, but if you loved to decorate for the holidays, treat yourself to your wonderful memories as you open each box and find all your favorite treasures.
Brad Thomas writes: Because of CMT we may find it easier to overextend ourselves. Don't forget, as we stress ourselves physically we also stress ourselves emotionally, psychologically, and frequently spiritually. For most people, stress behavior is significantly different from normal behaviour. Knowing how you respond, under stress, is very important. For people with CMT, stress management is very important. Sometimes we are stressed without really knowing what is happening. A need to cry may be the first and only sign of stress. As you have indicated, I believe that the best solution is to get away and rest.
When I begin to feel stressed "I take a nap!"
Linda here - Good advice anytime.
Miscellaneous
Handy paper towel roll
One helpful tip that I use, which I don't think I've ever seen published, is having a roll of paper towel on the car floor while a passenger for long distances.
I can roll it about and flex the muscles in my feet and legs. Without that movement I tend to get plantar fasciitis and go lurching out of the car with sore feet and balance problems.
A roll of paper towel wrapped in sturdy plastic will last quite a while, but I actually sewed a hand towel into a cover with a drawstring at one end, which is more comfortable. It also proved handy to have a roll of towels in the car on more than one occasion. - Cherrie Gilliland ON, Canada
Mobility 
Leaving electric scooters out in winter 
A reader asks if it is safe to leave an electric scooter with its batteries in her van all winter. An answer comes from Darlene Weston whose son is a battery expert: "Larry says the scooter may be parked anywhere you want as long as the batteries are kept charged up. He said you should remember that you don't bring your car or van into the house in the winter and it's the same principle with the scooter batteries. And what about dry cell batteries? He laughed ..."if you're worried about them freezing, then they weren't dry cell were they?" Then he assured me they were the same principle. He said he had actually watched them freeze an acid battery in ice totally, leave it and come back and it was fine as long as it was charged. He said not to try that if it wasn't charged though. The secret is keeping them charged up. 
Steno chair - if you want to save yourself tripping and standing a lot you can buy a simple steno chair with good casters that will let you roll around the house and especially the kitchen. If it is adjusted to the perfect height for you, you can use your legs to push yourself especially on tile and linoleum (it usually only takes one leg).

Go to Linda's CMT and Me blog for more tips: lindacrabtree.wordpress.com 

Translations

If you need items on this site translated into French, Spanish, German, Italian, Portugese or Norwegian please go to http://www.freetranslations.com/


Travel

​​There are many travel sites on the internet for people with disabilities. I run AccessibleNiagara.com for people with disabilities who would like to visit Niagara Falls, Ontario, Canada and have links on it to other sites. All you have to do is type in access Portugal or Venice or wherever you want to go and you'll likely find something. There are also umbrella sites that list many accessible destinations and all it takes is a bit of sleuthing to find what you are looking for, if it exist. Travel for people with disabilities is growing and becoming a very real money-maker so we are being accommodated. 

Types

For an extensive list of all of the types of CMT go to http://neuromuscular.wustl.edu/time/hmsn.html (2017)

Vocal Cords, Speaking, Swallowing


Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis
Research with Linda

Thomas D. Bird, M.D., Chief, Neurology (VA Medical Center); Professor, Neurology and Medical Genetics (University of Washington Medical School) and one of our advisors, sent a journal article on to us titled Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis by Peter James Dyck, MD; William H. Litchy, MD; Sharon Mennerath, BS, Thomas D. Bird, MD; Phillip E. Chance, MD; Daniel J. Schaid, PhD and Arnold El Aronson, PhD.
Three of the authors are familiar to us, Dr. Dyck and Dr. Bird, both of whom are on our advisory committee, and Dr. Chance.
I read the paper with much interest because I have a paralyzed vocal cord but in trying to rewrite it for you in layman's terms I fell short, so I asked Dr. Bird if he would give us a short synopsis of it.
Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis by Peter James Dyck, MD et al published Annals of Neurology Vol 35 No 5 May 1994.
"Dr. Peter Dyck and colleagues have recently described two families with a hereditary nerve disease associated with frequent vocal cord paralysis and shortness of breath. These families are different from the usual kindreds with CMT for several reasons. Onset of symptoms was frequently in infancy or childhood and severe episodic breathing problems were common, including wheezing and stridor. Surgery such as tracheotomy was sometimes necessary to improve breathing. Frequent shortness of breath seemed to be caused by weakness of the diaphragm and other chest and laryngeal muscles. Weakness of the hands and legs was also common. Life span was decreased in some family members because of the severe breathing difficulties.
The individuals in these families did not have slow electrical nerve conduction velocities, another difference compared with the more common form of Type 1 CMT. Therefore, these families were regarded as a variant of Type II CMT (or Type II HMSN, hereditary motor and sensory neuropathy). These particular families are considered a specific and uncommon form of hereditary neuropathy (CMT).
Readers will recognize that some individuals with other forms of CMT have also occasionally experienced vocal cord paralysis, diaphragm paralysis, and shortness of breath. It has not been determined why specific nerves seem to be more commonly affected in certain types of CMT. No systematic study has been done to document the frequency of occurrence of these breathing and vocal cord symptoms in all types of CMT."


Vocal Cord Paralysis and CMT
by Linda Crabtree 

While flying home from a trip to Florida I found I not only had blocked ears but I couldn't speak. I'd had blocked ears before and a good yawn or a few swallows would usually equalize the pressure and let me hear. This time it didn't work. Not being able to speak, worried me but what could I do, 30,000 feet up?

On the ground my ears cleared in about an hour but not the voice. I could force a raspy whisper but that was it. I thought a couple of days would help. Not so. My voice was never to be the same again.

A trip to my local ear, nose and throat specialist and a second opinion were no help. Neither could give me an explanation as to why my voice was raspy, why I hd no volume and why I sounded as though I had two voices sometimes and none other times. I thought I had cancer but that was ruled out much to my great relief.

Dr. Chan, our CMT pulmonary and breathing specialist, suggested I see Dr. Lorne Tarshis, an otolaryngologist at the Wellesley Hospital in Toronto. He immediately diagnosed a paralysed vocal cord, the left one. He suggested I give it a year and then, if it hadn't come back, he'd see what was available but he told me about Teflon injections that could be put along the vocal cord to make it thicker. However, this procedure required a general anesthetic which I don't want.

Then I read in The Mayor Clinic Health Letter about thyroplasty, a procedure that tunes your vocal cords and is done under a local anesthetic. I wrote Dr. Tarshis and asked if it were possible for him to do this with me. He asked me to come over and they'd take another look at my vocal cords with a little scope they put down your throat featuring a light on the end that shows them on a screen exactly what I have there. My vocal cords were not always touching but the ends weren't terribly paralysed. This meant they could perhaps put a small wedge of silicone in beside the paralysed vocal cord thereby pushing it over a little further towards the normal one. He also told me he could operate in 10 days or three months time. It was up to me. I decided to get it over with fast and went in hospital June 29/93 to have what is called Ishiki Laryngoplasty Type I done.

I went in hospital the day before so they could run tests and have me ready for the next morning. I clued everyone in about my CMT and what anesthetics and drugs weren't to be used. I think that wait, spent lying on a stretcher outside the operating room, is the most lonely and frightening time in a person's life.

The procedure took about an hour. I actually saw the surgeon cut my throat, a dubious delight, from his left to right, even though there was a small drape in front of my eyes. My throat and neck were anesthetized; I could feel nothing.

Several times I was asked to count. Usually it came out in whispers or hoarse raspy tones. The last time someone actually shouted at me to talk, don't whisper. I told them I knew the difference but all I could do was whisper. The plug was too small. Then the right side went in. As I counted, my light raspy one, two, three turned to a resounding four, five, six that bounced off the operating room walls. They had found the right size for me and there was nothing left but to secure it in place and sew me up.

I was a bit rocky for the next 14 hours or so but I felt pretty good and refused further drugs. I left hospital the next morning before lunch. Then I realized that the site of the operation had swollen up so that I couldn't speak at all. This frightened me because no one had told me that I wouldn't be able to talk. I called the doctor's office and was told it would take several weeks to six months to have the voice I'm going to be left with. Each day after that I regained a little more voice as the swelling went down.

Today, almost three months later, I find that most days I have a fairly presentable voice. When I am really tired my voice is weak to non-existent. If I try to do a workshop or speak for an hour or two I simply run out of voice. I can work with those two scenarios and they are somewhat preventable. The important things are: My voice is understandable and it is much easier for me to speak. I am no longer blowing a lot of air out through the gap between the two vocal cords. Because I'm using less energy to talk, I'm not as tired as I had been.

One of the interns drew me a little picture of my vocal cords that I will try to reproduce here to show you what mine were like and what they are like now. He also said that I should treat my voice with respect and use every amplifying device I could find. Consequently, I now have a little headset speaker with an amplifier that I can use for guest speaking and I use a small amplifying headset instead of a handset for my telephone. This way I can speak softly and still be heard.

What caused this paralysis? I can only guess that two years of using a speaker phone that you tend to force your voice a little to use, long conferences where I was the only one speaking, and a predetermination to weak muscles thanks to my CMT, along with some hefty singing in the car in Florida did the trick. We all know that people who have CMT can lose the use of a muscle group if it is served by CMT-affected nerves and we overuse it. I think I just wore my left vocal cord out. My left diaphragm muscle is paralysed too, so perhaps this is the way CMT shows in me.

As I hear from more people who have paralysed vocal cords I am learning how one should proceed.

First, if you are hoarse for a long period of time, please have your voice and throat checked out. It could be something else; it could be your CMT. Go to a voice specialist who is called an otolaryngologist. Most ear, nose and throat specialists won't know enough to diagnose you.

Carefully figure out if there is a treatment for you and look everywhere. I found what I needed in a health letter. It's up to you to advocate on your own behalf.

Ask questions: Write them down and get answers. Don't say yes to any procedure until you have walked yourself, with your doctor's guidance, through it and asked every question you can think of including what drugs do they give you to keep the swelling down afterwards. I was given Prednisone. Something gave me added strength for about a day after the operation but something also made me feel as though my entire body was going to explode. I almost ripped the IV tubes out of my hand myself I was so anxious to stop the drugs.

You know what you can tolerate. It is up to you to know what drugs do and what the side effects could be. Most doctors will think this is not your business but IT IS YOUR BODY! Ask questions, get answers or go elsewhere to someone who will answer your questions.


Problems in swallowing
by Bonnie Pfeiffer, MA, CCC-Sp. (1992) 

Linda here: Bonnie Pfeiffer is a speech pathologist who has CMT. This item was prompted by the following question: 
"Why is it when I went to have my throat looked at they couldn't find anything wrong with my swallowing? I know there is a problem but how do I prove it to my doctor? Is there a test?"

Bonnie answers: The answers to these questions are complex at best. As most of us are aware, research in the area of degenerative neurologic disease processes has been limited – particularly concerning CMT. There is even less literature available about associated swallowing disorders. Many studies have looked at swallowing in populations of individuals having a variety of neurologic diseases. Others have focused on groups of homogenous patients without regard to the degree of neurologic involvement in individuals. This makes for difficulty in identifying typical swallowing dysfunctions or in predicting progression.

There is, however, a great deal known about the types of swallowing problems symptomatic of degenerative diseases similar to CMT, tests available to diagnose specific impairments, and techniques for remediation or compensation.

Disordered Swallowing
Normal swallowing consists of three phases: oral, pharyngeal, and esophageal. During the oral phase of swallowing, food must be chewed, moved on to the tongue, gathered together, pushed to the back of the mouth, and squeezed into the throat by the tongue muscles. In the pharyngeal phase, the sensation of food entering the throat sets in motion a wave of muscle contractions that propels the food to the opening of the esophagus (food pipe) where a circular muscle, or sphincter, opens to allow passage through the esophagus into the stomach. Food travels through the esophagus in much the same way as it does through the throat – by a series of muscle contractions activated by sensory input.

Degenerative neurologic disease can create problems in the swallowing system similar to those affecting other sensory/motor functions elsewhere in the body: decreased sensory input, muscle weakness or visible atrophy, and incoordination of movement. Symptoms may occur such as difficulty in chewing or moving food around with the tongue, inability to swallow (initiate the "swallowing reflex"), the sensation of food "getting stuck" in the throat or esophagus, choking on liquids, or regurgitation of food into the mouth or nose. Poor vocal cord closure, decreased laryngeal (voice box) elevation, and insufficient or incoordinated breathing patterns can also interfere with swallowing.

Evaluation
A series of tests, involving a number of different medical specialists, can be used to assess swallowing. Because swallowing is a dynamic process, a particularly useful method of evaluation is a videofluoroscopic study – also called a "cookie swallow" or modified barium swallow. A videotaped recording, under radiation, is made while the patient swallows different food consistencies (liquids, pastes, or solids) of radio-opaque material – usually barium. In most facilities this test is performed as a cooperative procedure between a radiologist and a speech pathologist or occupational therapist.

A number of additional medical tests may be recommended based on the results of an initial videofluoroscopic swallowing study.Referral to an ENT (ear, nose and throat doctor) for an indirect laryngoscopy is warranted when there is concern about the ability of the larynx too protect the airway during swallowing. The physician will look in the throat with a special instrument to assess the ability to close the vocal cords, elevate the voice box, and clear the airway of any foreign substance by producing a strong cough.

Fiberoptic bronchoscopy is of similar diagnostic value in looking at the larynx with the increased capabilities provided by the use of sophisticated photographic techniques. The upper airway is also visualized for the presence of infection, bleeding, and tumors or other obstructions that may be causing breathing difficulties or otherwise interfering with swallowing.

Further assessment of the esophagus can be accomplished by endoscopy (insertion, through the mouth, of an instrument capable of allowing the physician to view the food pipe from the inside) or manometry. Esophageal manometry is useful in diagnosing weak or poorly coordinated muscle contraction and dysfunction of the muscle that permits food to pass from the esophagus into the stomach.

CMT individuals can and do have swallowing difficulties; but not all of us show the same degree or combination of symptoms. It is, therefore, important to obtain a thorough evaluation of swallowing and its related systems by medical professionals. And the good news is that many of these problems can be easily compensated for or remediated by therapeutic techniques.

Getting help
Most major medical facilities evaluate swallowing function by videofluoroscopy and selective additional testing. Contacting the Departments of Speech Pathology (Communication Disorders) or Occupational Therapy in area hospitals or rehabilitation centers may be a good place to start for advice. Universities offering training programs for rehabilitation professionals can also be of help.

In the United States, several regional swallowing centers are available for direction and consultation services. The Consumer Division of the American Speech Language and Hearing Association will be able to provide information concerning services available in your area.


Why we may choke
by Erin Chelsea Kelly, speech/language pathologist
BA in Speech Pathology & Audiology, MA in Communication Disorders
Certified in Swallowing Disorders, Cognitive Therapy & Family Counseling 

• Ineffective rotary chewing permits large chunks of food to approach the airway
• Weak tongue muscles fail to move food backward in preparation for swallowing
• Decreased sensation allows residual food or liquids to fall into the airway
• Weak vocal cords fail to close completely to protect the airway
• Delayed swallowing response interrupts the timing sequence
• Swallowing and breathing are not coordinated properly
• Decreased sensation allows saliva to accumulate, spilling into the airway
• Weakness and decreased sensation in the throat may allow food to accumulate in recesses
• Weak or poorly coordinated esophageal muscles allow regurgitation into the airway after swallowing
What We Can Do:
• Use temperature and texture to stimulate sensation
• Develop patterned breathing (breathe in, hold, swallow and breathe out)
• Alternate liquids and solids
• Swallow twice after each sip or bite
• Try using a straw for liquids
• Keep chin tilted down toward chest when ready to swallow
• Stay away from known problem foods (thin liquids, peanut butter, etc.)
• Thicken liquids with unflavored gelatin
• Chew food well and use tongue to check for bits of food left in mouth after swallowing
• Remain upright for at least 45 minutes after a meal
• Limit distractions while eating
• Swallow saliva frequently throughout the day

Wellness


Signs and Symptoms of CMT
by Linda Crabtree 

First, I have to say that the signs and symptoms talked about in this section are ones I have learned about and seen over the last 18 years. Some may be pooh-poohed by doctors but then a lot of research hasn't been done on some of the things that bother us when we have CMT.

Also, some of the things that we complain of are things that many people complain of, CMT or not. I've tried to talk about the things that are specific to CMT here. 

One thing you must know and please read this over four or five times: some of you may have some of these signs and symptoms, none of you will have all of them and most of you will only have or ever have a few of them.

This item goes under the Wellness category because we are well most of the time. CMT does not mean that we are sick. Sure, we get colds and flu and they make us sick. We sometimes get diabetes, heart disease and cancer and so do many people but WE are born with CMT; it is part of our genetic makeup.

However, we can keep as well as possible and that's what this is about.

I'll begin with the signs of CMT. The signs of CMT are what the doctor's look for when you go for aa diagnosis. If they do an electromyogram (EMG) where they put little needle-like electrodes into your muscles, those reading can help them know that something is wrong but these reading can also be normal and you can have CMT. An EMG is not always a reliable way to tell if a person has CMT. A DNA blood test will tell you if you have one of the types of CMT that a test is available for. There are many that there is no test for but the most common ones can be tested for through a blood test (Athena Labs can give you idea of what types can be tested for.) 

A complete family history should be taken by your doctor as well and it makes sense for you to do some sleuthing into your family's past before you see a doctor for a diagnosis. If one person in the family tests positive for one type of CMT, chances are good the rest with symptoms will have the same type. 

Signs of CMT

  • Loss of muscle in the face
  • Ongoing problems with eyesight and/or hearing that no physician can explain
  • Ongoing problems with breathing that is diagnosed as asthma but not helped by asthma medication and really bad headache before or upon waking. 
  • Scoliosis or kyphosis of the spine
  • From the elbows down: loss of muscle, hand, wrist and arm strength wrist, loss of finger strength especially the thumb; inability to cup the hand to hold things; inability to oppose the thumb to pinch and pick up things, loss of feeling and/or movement in hands, fingers
  • Hip irregularities 
  • Weak or absent reflexes in knees, elbows and ankles
  • From the knees down: loss of muscle in the knees and calf area or mega-calves, big calves that look healthy
  • Loss of ankle and foot strength including toes 
  • Very high arches or a very flat foot
  • Cocked or hammer toes 
  • Loss of feeling and or movement
  • Foot drop - the inability to lift your foot up when you want to take a step. 


Remember, you will not likely have all of these signs but you could have some of them. Doctors trying to diagnose you will usually look at your hands, spine and feet first and then ask you to walk away from them and towards them. They will likely test for reflexes and muscle loss and even for feeling. If a doctor is about to stick you with a pin and you have acute feeling in your extremities, tell him. 

Also, please know that an electromyogram (EMG) can be quite painful for those of us who have extreme muscle loss. If one is suggested and during it, you find yourself in a great deal of pain, simply tell the doctor to stop. No one should be brutalized to diagnose a condition and it can happen when doctors don't realize how profound the pain can be when you have CMT and acute muscle loss and electrical impulses are sent through the little you have remaining of those muscles. Thankfully, the blood tests have done away with most EMGs.

Also, there is a nerve conduction velocity test (NCV) that measures the velocity of the impulses through the nerve that takes no imbedded electrodes. Ask for that if the thought of an EMG or another one to simply know how your CMT has progressed, upsets you. An EMG is not a treatment, it is purely a diagnostic tool and if you really have pain from it, refuse it. 

Symptoms of CMT 
The symptoms of CMT differ from the signs as the signs are the outward things that your doctor looks for to begin to diagnose your CMT. The symptoms are what you feel, what you complain of, what hurts, the things that bother you. CMT is rightly called a syndrome because it has so many varying symptoms. 

I've run across many symptoms in the many years I've worked with people who have CMT and I'll list them here but again, remember, you may have some and will not have all of them or you may only have one or two and wonder how others can be so badly affected and you so lightly. Each of us is a unique individual. There is no set pattern of development except that most of us develop our signs symmetrically. We don't have foot drop in one foot only or only one weak hand.

We'll start at the top 

  • Severe headaches - sleep disorders
  • Eyesight - acute sensitivity to light, nerve degeneration (optic atrophy), droopy eyelid(s)
  • Hearing - acute or deafness 
  • Facial muscle weakness - this can show when the person begins to look gaunt and has huge hollows below their cheekbones, inability to whistle, trouble forming words using tongue and lips, difficulty chewing, biting tongue, lips, mouth while eating. 
  • Weak neck muscles - problems holding up head for any length of time 
  • Throat - Swallowing problems - choke often when eating, aspirate liquids when drinking 
  • Loss of voice - partial or full paralysis of vocal cords (talk to Linda about this)
  • Shoulder, back and chest wall muscle weakness resulting in easily fatigued muscles when trying to play piano or sit at a computer for any great length of time. Stabbing pain between ribs or in chest wall. The muscles of the back can be chronically strained or your hip muscles are weak and you use your back muscles to hold your body upright all of the time.
  • Scoliosis or kyphosis of the spine that makes breathing etc. difficult. This can be corrected. 
  • Loss of upper arm strength which can make bathing and grooming difficult.
  • Breathing problems - phrenic nerve involvement especially laying down so you don't breathe as well in bed and wake up with Co2 retention headaches. Your breathing should be tested both sitting and laying down as you would in bed. Breathing problems in CMT can be helped. There are many ways that breathing and sleep problems can be helped. 
  • Digestive problems could be exacerbated in folks who have CMT by loss of nerve enervation to the digestive tract. This can affect swallowing, digestion and elimination. Diarrhea and constipation associated with CMT can usually be treated. Reflux can also be treated. Swallowing problems are trickier but thickening liquids can help and eating slowly, chewing the food well and saying a silent, Ah, after each bite to get the esophagus ready for the next bite can help.
  • Very cold or very hot hands as well as loss of feeling and/or movement. Surgery can sometimes help with loss of grip if enough muscle is left in the forearm. 
  • Weak wrists, clawed fingers, inability to make a cupped hand, inability to pinch or pick up small items, or do up buttons, etc. 
  • Hip dysplasia - the hips don't fit well into the pelvis bone and this can throw your spine, walking and sitting off. This can be corrected surgically.
  • Sexual problems - impotence, loss of feeling, muscle cramping, inability to reach orgasm or to ejaculate. Some of these are rare but people don't talk openly about these symptoms, even to their doctors, so many problems in this area go unseen and unmentioned. See our section on Sex and CMT.
  • Elimination problems - diarrhea and/or constipation - they can alternate or you can exerpeince one or the other. Stress plays a big part here. 
  • Thigh area - many have reported pain in the thigh areas perhaps because we sit so much and some of us have little feeling and/or movement from the knees down. Muscle loss, intense cramping, shooting and/or burning pain, wringing pain plus other symptoms can all be part of problems in the thigh area. See Pain and CMT section. 
  • Knees - Because our knees take the brunt of our many falls and our foot and walking problems they can become weak, the knee caps can dislocate and we can lose the ability to lift our leg from the knee. It just swings and we can't pull it up because the hamstring and other thigh muscles have atrophied. If knees get too weak the person no longer can stand reliably and falls become so severe that a cane, canes, a walker or an electric wheelchair or scooter is used for safety and mobility. A person can get to the point where they'd rather use a mobility aid than risk more pain and damage from falling. It is then that mobility aids are accepted and used willingly.
  • Calf area - most people with CMT have atrophied calf muscles giving them very thin looking legs from the knees down. This thin calf then makes the knees look huge. There are some who have what is called mega-calves. These are healthy looking, even fat, calves but they are part of the person's CMT. Many complain of massive cramps in their calves especially at night and walking the floor trying to relieve these cramps. The best results have been with quinine. Talk to your doctor about this. It is also in tonic water. Muscle relaxants can be counter productive with us as we can lose our ability to stand using different muscles than able-bodied people.
  • Foot and ankle areas can be painful because the muscles have atrophied and the ankle and foot are trying to carry your body weight and also function as a normal foot would. Sprains, breaks and foot pain walking and/or standing is not uncommon. Very high arches can mean that a person never finds a comfortable or well-fitting shoe. High arches can be easily fixed surgically. An extremely low arch can mean that the person is walking on their ankle bones or experiencing constant sprains. This can also be stabilized through surgery. Foot drop can make a person lift their foot from the thigh thus giving them a high slapping gait. This can be helped through the use of a light-weight ankle foot orthosis (AFO) that holds your foot in a walking position so it will not drop. AFOs help tripping and falling, save energy and allow a person with CMT to walk more normally without so much wear on the knees, hips and spine. See our Surgery and Bracing and Pain sections. 
  • Toes - can curl, the knuckles can rub on your shoes or you can walk on your curled toes actually walking on the toenails. Toes can cross. In any and all of these cases walking can be extremely painful. Toes can be easily fixed surgically and a simple toe operation can lead to immense relief when walking. 
  • Balance is one of the things a person with CMT usually finds is affected. Many of us simply have to just reach out and touch something to enable us to stand still. Some of us have even worse balance problems and must use a cane or staff to feel safe. Our CMT can affect our balance because the muscles in our feet and legs are not normal. But read below. 
  • Proprioception is our ability to tell where our body is in space. When our proprioception is off we can fall for seemingly no reason or we may think we have pulled our foot into the car and it is still outside and can be crushed by the door. If a car pulls away from us we may feel as if we are falling or are very dizzy. Our body isn't able to tell us that the car is moving and we are not. We may be lying on a bed and not sure where our legs or our arms are. This is a problem with proprioception. It can interfere with our balance, our walking, our ability to judge where we put our body and we should be aware that it exists so we don't think were going a little bit nuts.
  • Fatigue can be overwhelming with CMT. You are using trying to make atrophied muscles do the same work that a person who has normal muscles would do. Please see our section on Fatigue. 


Overall the person with CMT may complain of pain, sensitivity to drugs, stimulants, hot and cold, loud sound, bright light and extremes including any prolonged stressor.

Knowledge is power. Ask questions, find yourself a doctor who knows CMT and if he doesn't and is willing to learn, find him everything you can on your symptoms. 

Common sense and learning to pacing yourself is the best way to live well with CMT.


Acupuncture helps
by Nadine Zimmerlund, U.S.A.

I am writing to let you and your readers know about the increased mobility, strength and balance I have experienced through acupuncture.


I am 40 years old and have a moderately mild case of dominant inherited CMT. I was diagnosed at age 28 and had just a few observable symptoms at that time, mainly problems with my knees. By the age of 38, my balance had significantly deteriorated, my ankles were rapidly losing strength, and my knees dislocating. In the past, I had enjoyed walking but it had got to the pont where it was difficult to walk around the block. I was also having allergy problems that were not adequately being helped by medication, so I decided to go to a naturopathic physician and acupuncturist. 

After just two treatments of acupuncture, I walked on the beach for over two hours. I have had acupuncture once every two to three weeks for just over a year. I feel good! I walk on level ground for a mile and half to two miles twice a week. I would like to walk more often but I have a very demanding schedule as an elementary school principal. I do a very modified aerobic program with a friend two to three times a week. My balance has improved but it is still not great. I can't wear any type of heel on my shoes but I can walk comfortably in flats or tennis shoes. Acupuncture has improved the strength in my hands and legs and I find the treatments extremely relaxing. 

My naturopathic physician has encouraged me to eat a low fat diet with an increased intake of flax and canola oils. These oils contain linolenic acid, an essential fatty acid. I have also identified foods I am allergic to, and have virtually eliminated my allergies by watching my diet. 

I believe wholeheartedly in the use of acupuncture, in the use of a low fat diet, and in the use of vitamin and herb supplements as a holistic method of improving my strength and my health. I hope others will check into naturopathic medicine and find the quality of help that I have found!


Women with CMT


A very private problem
by J.K., U.S.A. (1994) 

I have had a form of sexual dysfunction for the past 20 years. I am unable to have intercourse due to vaginal burning, soreness, and tightness; any pressure or friction is painful. I also have generalized burning soreness of the skin and other mucosa (sore tongue and lips, my clothes hurt, etc.) but the vaginal problem has been the most disturbing to me.

I have tried many remedies without relief. I was given an acidic gel by one physician who felt it was a pH problem. Another gave me a topical steroid foam which made it worse. I have tried taking various oral vitamin/mineral supplements which also made it worse. 

A clinical ecologist told me it might be due to allergic toxemia. (I also had depression, mental confusion, muscle aching, etc.) The treatment included prolonged fasting, bottled water, rotation diet of organic foods, and avoidance of chemicals. My symptoms worsened and the program triggered an eating disorder (anorexia) which left me debilitated. 

Recently, I was given estrogen patches on the chance that premenopausal hormone deficiency might be contributing to the problem, but I was not able to tolerate the side effects long enough to see if it would help. I also tried Replens, an over-the-counter cream, which relieved the dryness but did not help the pain. My next plan is to try Vitamin E suppositories. 

I have read of others with CMT who have burning feet and hands and I would be interested to know if anyone else has had my problem with generalized burning skin and mucosa. Since I don't really know what is causing it, I was wondering if it might somehow be related to the CMT. 

Linda here - We've had several letters on J.K.'s problem, some of which follow. 

From Thomas D. Bird, M.D. Chief, Neurology (VA Medical Center); Professor, Neurology and Medical Genetics (University of Washington Medical School)

J.K.'s problems sound fairly complex. First of all, she says she has CMT that has progressed to weakness of her upper extremities, shoulders and apparently neck. Because the other problems she describes later in her letter are not typical CMT, some attention should be paid to discovering exactly what form of CMT she has. Questions that should be asked are: Does she have a family history of CMT? Has she had EMG and nerve conduction studies? Has she had the DNA test for CMT 1A? Could she have some other form of neuromuscular disease? 

She then relates symptoms of burning, soreness and drying of her skin and other mucosa including tongue, lips and vagina. She also mentions depression, mental confusion, and muscle aching. Obviously, these problems cannot be resolved by an exchange of letters. For the vaginal symptoms, she should consult a gynecologist. She might also want to see a dermatologist. Most important, she should consult a board certified internal medicine specialist to be certain that her various symptoms are not the result of a single underlying disease. Several different possibilities come to mind and they should be systematically evaluated by a specialist. 

From Deborah J. Riester, M.D., Framingham, MA, U.S.A. I read the letter from J.K. and am not sure if I can help. I cannot make a diagnosis without more history and physical exam but these are my thoughts. 

Vaginal soreness and burning is most often caused by vaginal infections and that should be checked and treated. 

Another vaginal moisturizer (similar to Replens) is AstroGlide by Biofilm Inc. in Vista, California. Some people find that more useful. 

If she is postmenopausal, estrogen or estrogen suppositories would help. If she is premenopausal, she could have side effects from estrogen. If she is perimenopausal, lower doses of estrogen might help. 

One cause of dry mucous membranes is the SICCA syndrome which is in the "arthritis family." 

Muscle aching can be caused by fibromyalgia which responds to antidepressant medication. 

I think a good internist could sort this out. A gynecologist might be helpful for the vaginal problem. If she is feeling depressed, she would benefit from seeing a good psychologist.

From J.R., U.S.A. I would also like to respond to the "Very Private Problem" letter. I had a dry vagina which had lost its elasticity causing it to be painfully tight even to the pont of tearing during very careful intercourse. My doctor prescribed Premarin Vaginal Cream. It has been extremely effective and has brought back most of the elasticity and natural moisture and allows for pleasure in intercourse again. I am postmenopausal and chose not to take estrogen in any other form because I have had fibrocystic breast disease for many years. I did try estrogen patches for a brief period of time, following the cessation of my menstrual period, but it caused me to be depressed and moody and my skin reacted to the patches. I have not noticed any unpleasantness in association with the use of the Premarin cream. Perhaps J.K. could find relief from her unpleasant problem with the use of this cream. I hope it works for her if she should choose to have her doctor prescribe this medication. 

From S.C., U.S.A. ....A couple of doctors wrote in with their comments [about J.K.'s condition] and I was extremely dismayed and concerned that neither of them mentioned the terms vestibulitis or vulvodynia. 

I belong to an organization called the Interstitial Cystitis Association because, in addition to CMT, I suffer with a disabling inflammatory bladder condition. I am in the bathroom up to 40 times per day. This is a very long story and I won't go into it here but very often people with this bladder condition also develop vaginal, urethral problems with symptoms quite similar to J.K.'s. The Interstitial Cystitis Association is working closely with the Vulvar Pain Foundation and the Vulvar Pain Network to explore this problem. 

J.K. needs to be aware that she should be seen not only by a gynecologist but also by a urologist. She might have an undiagnosed bladder condition underlying her vulvar pain.

The ICA is a nationwide support group and has received media coverage in every area. I, myself, appeared on The Today Show a few years ago with the group. We have gotten the National Institutes of Health (NIH) here in the U.S. to do the first ever bladder studies for women, even though this condition has been around for 100 years in medical literature. 

The addresses for the groups mentioned above are as follows: The Vulvar Pain Foundation, Joanne J. Yount, Executive Director, 433 Ward Street ,Graham, NC 27253, U.S.A. The Interstitial Cystitis Assoc., P.O. Box 1553, Madison Square Station, New York, NY 10159-1553, U.S.A. 

And from G.T., who said she was the woman written up in Good Housekeeping some time ago.

"I know the hell I went through," she said. "They couldn't figure it out. The pain was so bad I'd scream if my husband touched me. I finally found a woman gynecologist and all she had to do was touch a Q-tip to the crucial spots and I'd go through the roof, it hurt so bad. All the male doctors couldn't figure it out. I had vastibular adenitis -- a gland on the outside of the vulva that is for lubrication becomes infected and it can cause severe pain throughout the area." 

Abuse
by B.D.

My daughter has been very angry at me for the past 10 years. She, too, has CMT and three children. My son thinks she is angry at me for giving her the disease and that she is definitely in denial. The home they recently purchased is two storeys with very narrow steps. Her children are all under the age of five and require her to carry them up and down these steps. Linda, it makes me wonder…have you ever run across the blame factor with any other people you correspond with? My medical doctor indicated such to me eight years ago when my daughter would get so angry with me and unreasonable, fly off the handle at the slightest provocation and pick a fight over the minutest detail. 

I have stopped all conversation with her as it leads to her berating me. The last letter was six pages of how I beat her as a child. There is no way I could have physically perpetrated that, let alone having a desire to do so. It is a very frustrating situation.

My husband has not spoken to me for months. He said he can't handle the wheelchair thing anymore and would break it almost every three or four months with rough handling, smashing my hands, running over my feet. Because my son, aged 20, has taken it upon himself to take me to doctors' appointments and church, his dad has refused to talk with him, also. When I spoke with him again about this situation, he indicated that he is embarrassed about my disability. I don't know what he would have to be embarrassed about, unless he feels he married beneath him.

As you can imagine, I'm not having a very pleasant time of it right now. My parents are both dead and I have no living relatives. Our friends just don't understand how he can be so belligerent but are hesitant to get involved. He has been abusive verbally and at times has grabbed, shoved, pushed and slammed me around. Our son told him that he realizes I don't have the courage to call the police on him. I haven't for the past 28 years, but he has served warning that if George (my husband) makes a move towards me physically, he will call the police for me.

There have been times that my son has physically pulled George off me. Last year, Matt (my son) got caught up in an episode where I was shoving pain pills in my mouth, crying, all the time telling George I was afraid to take my own life. He just kept yelling at me, telling me I was a pathetic excuse for a woman.

There is so much anger in my home. We have been to counsellors in the past. The last two told my husband not to come back until he was ready to deal with his anger. He said they didn't know what they were talking about, that I am crazy. He is going to a counsellor now, but only once a month, and of course giving only his version. The counsellor is 120 miles away and I am afraid to travel that far as George will not stop for me to use the restroom when we travel. He is a real tyrant when travelling, and a very self-centred, selfish, belligerent man. 

Divorce is so out of the question for me. I could never keep myself financially and my disability cheque is for $450 a month. My medications alone cost an additional $120 per month, and I don't know how I would survive on that.

I know that I sound weak, but I feel so caught between a rock and a hard place. I used to play the abuse cycle out to get to a calm place for awhile. It never lasts. I always manage to do something to make him angry, or if something outside the home makes him angry, instead of dealing with it there, he brings it home to me.

Keep up the encouraging words – you help so many of us.

Collagen for stress incontinence

From M.E. in the U.K.: Regarding the collagen injection for stress incontinence. I am involved in a trial at a hospital in Bristol…a calcium injection, medical name calcium hydroxylapatite for urethral sphincter augmentation. It is an inert substance that should not dissolve like collagen. It is rather a tricky procedure and did not work the first time, but since the second, nine months ago, I am about 90 per cent better. Just colds still are a small problem. Considering how major the alternative operation is, with no guarantee of success, I am very pleased.


Damaging effects of social attitudes on women

A 1997 study reveals the damaging effects of social attitudes on women with disabilities.

"Previous research indicated that women with disabilities constitute our nation's most severely oppressed minority," said Dr. Margaret Nosek, principal investigator for the study and director of the Center for Research on Women with Disabilities at Baylor College of Medicine in Houston, Texas. "Now we have more information about what factors increase their ability to beat the odds." 

The four-year study involved more than 1,000 women, about half with and half without physical disabilities. 

Among the findings: 

· Women with disabilities had limited opportunities to establish romantic relationships. The large majority (87 per cent) of women had at least one romantic relationship or marriage. However, only 52 per cent were involved in a serious relationship at the time of the study, versus 64 per cent of women without disabilities.

· Self-esteem in women with disabilities was more strongly influenced by social and environmental factors than by the mere fact of having a disability. For women who were not working, or in a serious relationship, or who had experienced physical or sexual abuse, self-esteem was much lower especially among women with disabilities.

· Abuse was a serious problem for women with disabilities. They had even fewer options for escaping or resolving the abuse than women in general. About the same percentage (60) of women with and without disabilities had experienced emotional, physical or sexual abuse, but women with disabilities experienced abuse for longer periods.

· Women with disabilities encountered serious barriers to receiving general and reproductive health care. Thirty-one per cent of the women with disabilities were refused care by private physicians because of their disability. 

According to Nosek, who is a wheelchair user, few of these problems are directly related to disability. They are more a result of society's negative stereotypes about the abilities and potential of women with disabilities.

"Self-esteem seems to be the critical element," she said. "If you believe that you are a woman of value, you gain strength to forge your way through the most stubborn of barriers." 

The Center for Research on Women with Disabilities study was funded by the National Institutes of Health and the Centers for Disease Control and Prevention…July 7/97


Dealing with harassment
by B.W., Canada
June 1994 

Because I look healthy and don't complain about my aches and pains and fatigue, people expect me to do everything they do, as quickly and as well as they do. Some expect me to do more on the job since I don't have any children making demands on my after school hours. I have now taught for 20 years. I wear leg, wrist and neck braces as needed and use a scooter to get me around work.

Up until the middle of last June, I taught full-time. However, after mind-numbing fatigue, pain and harassment on the job last year, I decided to finish out the year teaching just half days. I found this still too much, so as of December this school year, I started working just four afternoons with Wednesday off. This works much better. Pain and fatigue are still there but the job is now manageable.

Pain, fatigue, poor balance and coordination have been a part of my life since childhood. In the last 12 years it has gradually increased. However, I've always been able to hide it fairly well until last year. At this time, two of my colleagues started to harass me at work. The one teacher asked me to do her yard duty and I told her I would have gladly done it if I'd been wearing slacks against the cold. For the last year and a half, she has not spoken to me directly.
Another staff member has also written me a harassing letter.

The comments, gestures and atmosphere got so bad last spring that the person in charge of the Employee Assistance Program for the school board, together with my occupational therapist, gave the staff a presentation about CMT and how if affects my life at home and work and most of the staff were more understanding after that. One lady on staff told me that is she had to go through what I go through every morning just to get to work she'd never get there. She said I was a very courageous person and she certainly had to hand it to me, the way I carried out the duties of my job.

At the beginning of this school year, the harassment started again and I went straight to the principal and told him. He spoke to her and all in all this is a much better school year.

So all of you CMT people, keep your chin up; those who harass you eventually lose their audience and influence and the harassment and discrimination does die down if people come to understand your CMT limitations and respect you as an individual.


Cancer and CMT
Do what you have to and get it over with

By M.F., U.S.A.

This has been a very mixed year, emotionally for me. The biggest joy was discovering CMT International and finding out about my CMT. I have told everyone I know about your wonderful and informative newsletter. The down part of this year is that I found out in September that I have breast cancer, when a lump was removed (which is okay because I have beat everything else that has tried to knock me down). Thank the Lord for my wonderful doctors. In this day and age you only hear complaints about how uncaring doctors are, well let me tell you…

When I first met with Dr. Michael Figueroa, my chemo doctor, the first thing he noticed was my curved finger. He asked it if was arthritis and I said no, CMT. Well, what a door that opened. We spent the next hour discussing CMT and what kind of treatments I could have. I took him all my newsletters; he called doctors, authors and probably you, for more information. He ruled out radiation, period (the radiologist did not seem concerned about CMT when I saw him). This doctor has taken my case to the hospital tumor board for advice and talked to everyone he could for more information. The end result is that I am going to have the breast removed and will just take the cancer medicine with probably no other treatments. I feel so lucky that I did not get a doctor who said, "This is what we have to give you and you will have to just live with the side effects."

Between my surgeon and chemo doctor I feel very secure. I shudder to think of what would have happened if no one took an interest in my CMT.

I have told all the doctors that my oldest son is getting married in a few months' time in Ohio, and I expect to be there looking like the mother of the groom, so do what you have to and get it over with as I have a big date.


I want to be independent
by P.K., Canada Feb. 1996 

My time working nights in the group home will end in a couple of weeks. Due to financial problems, the home will be closed. They offered me work in another house with the same type of kids, but during the day. These are disturbed kids who need constant attention and many times physical restraints. I have said that I cannot do this. Right now the agency has nothing to offer me. I may have to go on disability. This is hard for me to accept. I do so want to be independent. But accepting that I have CMT has always been difficult for me. I think now I know my staying in the job for 15 years was a form of denial.

I am much slower and in much more pain I have found ways to get around my disability on the job but it was getting harder. My hands are saying no, this cannot continue. They are sore now from writing. I have to investigate computers, but typing is also painful.

I noticed Dr. Patterson's article in the newsletter. I found him very helpful at the conventions. Is it possible to see him about my hands? I don't have a specialist as I needed a rest from those who pretended to take an interest and then became antagonistic when they hit a wall. I'm still looking for someone to work with me on my lower limbs but I'll no longer put up with abusive doctors.

Linda here - Why not give yourself a breather, consider yourself on disability but between jobs. If something comes along that feels right and you are well…go for it.


Life sometimes hurts
by A.F., England (1994) 

Linda: Reading through your article on CMT and looking at the drawing of the symptoms, it was like looking at my own body! I was born with club feet and curled up toes. When I was 17 years old, the surgeons decided to cut open the whole length of both legs at the back. They never told me what for (you were not allowed to ask questions in those days). I suppose they severed some tendons, then they opened up both ankles to rearrange the bones, and lastly sliced across the bottom of the toes on both feet in the hope of straightening the toes out. About 15 per cent of my legs were changed, my feet were a bit flatter, but my toes still curl and my ankles are still swollen. I trip an awful lot.

A few years later, they decided to do something about my hands as I had no muscles at all below my thumbs and my fingers were like claws. They broke my fingers but they didn't set properly, and then they took a muscle from the third finger of my right hand, opened up my wrist and inserted the muscle down through the hand into the wrist and onto the non-existent muscles of my right hand. That didn't work either!

When I was in my 20s, I suffered dreadfully with pains in my spine. I underwent an operation where they put me under, removed most of the tissue in the backbone and filled it up with some sort of 'goo.' They still won't tell me what they did. (The surgeon is dead now anyway. I might be able to catch him without his wings one day and de-pluck him if he doesn't tell me what happened!)

Through all this, I managed to have a very unsatisfactory marriage, two beautiful children who unfortunately don't want anything to do with a disabled mother (too embarrassing), but I found a wonderful husband without whom I would have ended my life years ago.

Your diagram (in CMT and Wellness brochure, showing the various areas that can be affected by CMT) helped me wonderfully because what I thought were heart attacks were muscle spasms. My voice is very weak and I suffer eating; food gets stuck in my throat. When I go to bed at night, after an hour or so of sleep, I wake up with a very dry throat and have to take sips of water to lubricate. This happens four or five times a night. It seems (according to the hospital machines) when I do manage to sleep, my breathing gets so shallow. It's a good job my throat gets dry; nature has to wake me up.

The latest thing that is happening to me is I am getting what the doctors call "frozen shoulders," a painful complaint, where it is impossible to lift your arms above your head or pick up anything heavy.

I know this is a dreary letter to be writing to you but perhaps other people have had the same symptoms. When I was a child and growing up, apart from the usual chicken pox, measles, etc., I also had yellow jaundice, scarlet fever, epilepsy, and now that I am grown up a "BAD TEMPER"!

Thank you for your time in reading this letter. If the enclosed poem is any good, it is yours to do with what you want.
Linda here - Ann sounds like she needs some TLC and a good ego boost. Let's hear it for her for having the heart to share her most private thoughts with all CMT women.

LONGING
by A. F., England
This isn't loving, this isn't life,
How can my Hubby say he has a wife
'THO I'M A WOMAN

The nights are the worst, in the darkness of night,
You long to touch him, to hold him so tight,
'COS I'M A WOMAN

When your mind's full of loving, but your body's in pain,
But you know you can't touch him, it will all be in vain.
'COS I'M A WOMAN

Your body cries out to be cuddled and kissed,
To hear sweet whispered nothings of the things that we've missed.
'COS I'M A WOMAN

I'm crying while typing, I'm aching for love
Am I asking too much, I ask the heavens above
'COS I'M A WOMAN

No shame do I feel for making you see
The passionate loving that's being denied me
'COS I'M A WOMAN

Although this disease is sad and inhuman
Remember, oh please, DEAR GOD
THAT I'M A WOMAN


Romance is still there
by S.L., U.S.A.

As a woman I find myself often frustrated by my CMT. I have made many changes in my life to accommodate this illness. Nothing can be spontaneous with a body that doesn't work. I know many of you have experienced some of these changes too. We can't just jump to our feet to answer the doorbell, first we must adjust out braces or grab our cane. When confronted by a building with steps, we wonder if it's really necessary to go in. Even at the grocery store we accommodate our illness with hands that don't want to work as we write our cheque.

So why is it that I have had such a hard time admitting that I need to change my expectations regarding sex? I have put a load of guilt on my shoulders for feeling too tired for romance. Some nights it's all I can do to drag myself into bed, with nothing on my mind but sleep. I realize that it's just another part of my life where physical and mental changes have to be made.

There is hope, however, With my husband's help, with help from Linda at CMT International (and her newsletters), and by planning ahead for romantic evenings, I feel that my sexual life is adjusting to my disability. In all honesty, I guess my expectations needed to change anyway, at 43 it's hard to be spontaneous at anything.


Sex Problems and CMT

S.M. writes: I realize that discussing sex is a touchy subject for many but I would love to hear from others who may be experiencing similar symptoms. I am 27 years old and have lost all interest in sex. I have absolutely no physical urges to be sexual. I feel as though all erogenous zones have quit working (things that used to turn me on no longer even feel good). Though at times my mind might think sex sounds great, the body does not respond.

I blame much of the problem on the chronic fatigue (sleeping sounds much more enjoyable than sex…the urge is to lay down and rest, not to be sexual) but my husband suffers in the process. I do not find sex to be physically enjoyable; it is somewhat painful. I lack adequate lubrication and using artificial lubricants has not solved the problem. I am basically non-orgasmic; yeast infections and urinary tract infections seem to be a continuous concern when I am sexually active, and the legs seems weaker after sex, so anytime before actual bedtime becomes out of the question. I also feel that I can't afford to waste energy on sex because there's always so much I need to accomplish. I think the energy issue (along with the other symptoms) has made sex an emotional issue because there's too much to deal with.

I have questioned doctors concerning my problems. I've been told that I'm too young to have these problems. I've been told that maybe I need a new man even though I'm in a good marriage. I've been told that it has nothing to do with CMT. And, I've been told it's all in my head, so I went to therapy and realized that all the physical symptoms would naturally and normally cause the lack of interest. But this doesn't solve my problems.

I would like to know if others experience the same. Maybe we can make the correlation between the CMT and the sexual dysfunction and later inform our doctors.

Linda here – There is documentation on both nerve involvement in the genital area for women and impotence for men. 

K.L. responds to S.M. I'd like to share an observation that my sister and I made a while back. We are in our mid-thirties and are mildly to moderately affected by CMT. We believe that we have never had an orgasm. Manipulation of the clitoris is more painful than it is enjoyable. Like S.M., our erogenous zones are virtually non-existent. Unlike S.M., we both still enjoy the idea of sex and manage to keep our husbands happy, although my husband complains about the lack of vaginal pressure. I think that muscles may have become weaker there as they have in my arms and legs. I hope this is of some help. I know it helps to hear about the experience of others.

Another response to S.M. from a reader who wishes anonymity: S.M. should know that sexual relations can still be wonderful without being orgasmic. As for the yeast and urinary tract infections, yeast infections can be transmitted back and forth between sexual partners if both are not treated. Men can have a yeast infection without symptoms. Some women's pH balance also is very sensitive and any change can cause an infection My doctor recommended I use a douche after intercourse, a mild as close to natural as possible, which has cut down on my infections. Also all products I use for birth control have to be as natural as possible.

Also, as S.M., my legs are almost useless after sexual relations. I also get severe leg and hip cramps. My partner is very understanding, stops when this occurs and rubs the cramp, which is very nice since it's a form of foreplay. There have been plenty of times that we weren't able to continue, which my partner accepts, plus, after a night of sexual relations, my partner always lets me sleep in. Sex is always a planned activity for us. Yes, it takes the excitement out of it somewhat but it enables us to still show our love and affection for each other. Different positions may also be helpful.

Things no doctor asks 
Linda asks Dr. Gareth Parry, Neurologist, Auckland Hospital, Profesor of Neurology, University of Minnesota: One woman would like to know (and I imagine a lot of others who are afraid to ask) if CMT can affect your ability to have an orgasm. I've heard from a handful of women who cannot reach orgasm. I spoke to my gynecologist and she said it can be part of a neuromuscular disease. Could you think about that one for a minute please.

Dr. Parry answers: It does make a certain amount of sense. Every part of the body receives a nerve supply and orgasm requires an adequate nerve supply to the vaginal region. We have not recognized failure of orgasm as being part of CMT but it is perhaps because we haven't specifically asked. Like male impotence, it is so common in the general community that it would take a specific research project to get an answer.

Linda here - There are a lot of things that no one has questioned in CMT people. Problems like erection difficulties, inability to have an orgasm, constipation, diarrhea, and stomach upsets (reflux). All of these things are so common in the general population that no one really thinks of them as being part of CMT but they could be. Let's hope someday, someone, takes an interest in them and we have medical journal articles written on the topics.


Single and doing okay
by G.L., U.S.A.

I don't know if you recall my calling you but there was a time I was having many problems. I was in a bad marriage. I couldn't understand why my husband couldn't - wouldn't - touch me for eight to 10 years (I lost count). Anyway, thanks for helping me. I am now single and doing okay…better than being hurt every day! Also I would like some pen pals…men of course! Thanks again for helping and being there for me.


Women should know
by C.C. Canada (February 1995)

After taking an antibiotic in May 1994 for bronchitis, I started to experience itchiness and burning sensation around the vulva. I was prescribed seven different creams, over a period of four months, for fungal infection (usual side effects of antibiotics) plus an antifungal pill that is prescribed to AIDS patients (Fluconazole) without any results. After all these treatments that lasted from June to September, I was told by my GP that I had recurrent vaginitis and needed to see a specialist. I finally got an appointment for the beginning of December. This gynecologist cancelled all December appointments and I was rescheduled for the end of January. I couldn't see myself waiting so long and suffering all this time.

In the meantime, I tried everything in the book in terms of "natural medicine" (useful methods in case of a "real yeast infection"); went through the very tough antifungal diet "MEVY" (meat, eggs, green vegetables and plain yogurt) for a month and no wheat products for three months; homeopathy for two months while on MEVY; acupuncture while on homeopathy and MEVY what I call putting all the chances on your side; Golden Seal treatment for two weeks after obtaining no result from anything else; the "caprylic acid-lactobacillus bifidus-psyllium-bentonite: treatment that is so awful to take I will not describe it to you; the "taheebo tea" douches.
As you can see, I'm not the passive type of patient waiting for a medical guru to tell me what to do but, this time, it was way beyond me.

I finally saw a gynecologist for what my GP was unsuccessfully treating me for the last six months, recurrent vaginitis. Well, after more than $500 worth of creams and different treatments, from homeopathy to "the Yeast Syndrome Diet", he told me that I probably never had any yeast infection since all my lab tests were negative. According to him, I'm suffering from vestibulitis (of the vulva).The cause is unknown but it appears that women who react to certain antibiotics (which is my case for penicillin and amitriptyline), pre-menopausal women and others could have vestibulitis. It is the thinning of the vaginal walls at the entrance (vestibule) that is the culprit. The walls being thinner, the veins are ore exposed and break easily. As a result, it burns and itches as if one had an infection. It can go undiagnosed, or diagnosed as a yeast infection, for years, which makes the use of all these expensive creams not only useless but painful. They can also aggravate the situation by keeping the area constantly irritated.

The remedy is simple and quite rapid. Conjugated estrogens (Premarin) are used at night intravaginally to thicken the vaginal walls. The normal dose is 5 grams a day, but after I told him how sensitive to medication I was, he went down to 2 grams. After two days of trying that dose, and suffering from mild migraines and dizziness, I went down to 1 gram a day. It seems to work well for me since the side effects are gone, as well as the pain and burning sensation I've been having for the last six months. He also prescribed a cream Hydrocortisone, to be applied topically three times a day. I do it twice a day.

The doctor said that he could not link vestibulitis to CMT but often sees vein problems arise when there is weakness of the muscles (diverticulosis, hemorrhoids, varicose veins, etc.). Could this be the new illness of the ‘90s!

Following is an October 1996 update from C.C.: 

Finally - the right doctor and a cure
I'm feeling much better than last year. I've meant to inform you of the new development in what I call my ‘vestibulitis saga.' If you remember, I was having problems with my vagina (burning sensation as if I was sitting on acid), my anus (bleeding hemorrhoids) as well as my mouth (I had almost constant mouth ulcers).

Doctor #1 said it was vaginitis and prescribed seven different creams over a period of three months, even if the yeast tests were always negative. She then sent me to se a gynecologist, but since I could only have an appointment six months later, I went to our local university clinic and saw doctor #2 who sent me to a gynecologist. This one thought it could be caused by a different sexually transmitted disease and had a series of tests performed. All of them came back negative (I've been with the same partner for the last 16 years but he did not want to take any chance!). He then said I was suffering from vestibulitis and prescribed estrogen and cortisone. When I questioned the side effects of that deadly cocktail, he reminded me that he was a specialist, and if I did not want to follow his advice, I would have to find another doctor, which I did.

Last January, after 19 months of pain (sometimes excruciating) and frustrations, I finally found Dr. Faraci, a gynecologist here in Ottawa, who is secure/confident enough with herself to listen to her patients and even to accept their suggestions/leads. The fact that I had all the symptoms of menopause at 38 (which is not abnormal but unusual given my mother started hers at 53 and my five older sisters, aged 40 to 51, were still as regular as a clock) made me wonder if CMT could be involved somehow. My theory was related to two hormones and LH (I can't remember exactly what it stands for, and since I lost all my medical related books and notes in the flood of August 8…yes, we had 27" of sewer water in our basement…I cannot be more precise for the time being).

Dr. Faraci performed a series of tests (many of which were done to eliminate other possible causes or other illnesses that could mimic the same symptoms) and came to the conclusion that, given the very low level of these two hormones in my body, my hypothalamus is probably affected by CMT. Since these hormones are sent through nerve conductivity to the ovaries to produce estrogen and progesterone, the ovaries stopped producing these hormones which explained why I was starting my menopause so strongly and so young and why the membranes of my vagina, anus and mouth were so dry, cracking, burning, etc., and why I was always so tired. It is called ‘hypogonadism' and is controlled with HRT (hormone replacement therapy). I take a minimal dose of estrogen for 31 days (a month) and of progesterone 10 days a month. I had a few side effects at first (headaches, nausea, feeling down). Except for four days a month (few side effects like PMS), I now feel like ‘new' (or almost, I'm now 41 after all!).
I'm sure I'm not the first nor the only one who had to go through all this ordeal before finding the right doctor, the right diagnosis and the right solutions.

In February 1997 C.C. wrote: 
Well, my never-ending saga has a new twist. In my last note to you, I was talking about a few side effects (PMS-like symptoms) caused by progesterone. They since have amplified to a point that I had to return to see Dr. Faraci. As usual, she was very pleasant and listened to me and the symptoms I was reporting.

When she first put me on progesterone in January '96, she prescribed them for seven days a month (day 16 to 22) and gave me a repeat for three months. To renew them, and for the follow-up, I had to go back to my GP. My GP told me that they were to be taken for 10 and not seven days (day 16 to 25). I read the Information for the Prometrium Consumer document attached to the pill container and it was written that I had to take them for 14 days. I accepted what the GP said and went on to take them for 10 days. What a mistake! Starting day five of the second month, I started to experience all kinds of symptoms, like breast pain, nausea, dizziness, fatigue, headaches and depressive mood. I looked yellow whenever I was looking at myself in the mirror but did not pay much attention to it.

When I saw her in the summer for a renewal of my prescription I talked to her about these symptoms. She said that these symptoms were related to the fact that I was depressed and referred me instead to a psychiatrist. I had the power to refuse but instead I agreed with her diagnosis since I was crying more often than usual, I was more tired than usual, etc. I'm so glad I did go. I'm also glad that I'm continuing to give myself the gift of psychotherapy. I see my psychiatrist every two weeks. From day one, I made it clear to him that I was not to take any mood altering pills and he's never insisted on pushing one on me since. This therapy allows me to vent my feelings (positive and negative) related to CMT and its numerous grieving steps that we all have to go through since it is an evolving illness. It also gives a break to my very supportive husband, who sometimes has more than his share of the consequences of CMT, and to my friends and family.

When I saw my GP for my annual checkup, my cholesterol tests came back completely out of whack. My LDL (bad cholesterol) has always been on the high side of the normal scale, but this time not only was it much higher but my HDL (good cholesterol,) which is usually very high, came back very low. According to her, I had no choice but to take a medication to lower it. I was in her office to talk about side effects of my progesterone and the only thing she could do was to prescribe me another pill. I was so depressed and annoyed when I heard her talk so nonchalantly about another pill to take for the rest of my life I literally cried in front of her (it was also day six of my Prometrium). I asked her to look at the broad picture instead of her usual way (and most GPs' way) of a symptom, a pill…another symptom, another pill. She said that I had no choice. Useless to say how furious I was when I left her office.

In hindsight, I realize I was crying more out of anger and powerlessness than out of sadness. To top it off, she said that according to the manufacturer, Prometrium should be taken 14 days. She also mentioned that since I had so many side effects with it, I should consider having my uterus and my ovaries removed. If we had to remove every part of our body every time we encounter a problem, I know one head that should come out soon, and it is not mine!
As usual, I allowed myself to have a good cry and two minutes of self-pitying. I then dried my tears and went to do some research on how to lower my cholesterol level naturally. While I was at it, I also checked the side effects of the medication Mevacor, which are nausea, diarrhea, muscle cramps and myalgia, muscle pain and myopathy, dizziness, headaches, blurred vision; there was even a case of peripheral neuropathy that has been reported. I knew I couldn't do much in terms of cutting down of fats, but, for the time being, I have decided to eliminate all red meat, eggs and sea foods from my diet, take homeopathic medicine and some nutritional supplements.

When I saw Dr. Faraci, I mentioned my symptoms. As soon as I said the words "my skin looks yellow," her diagnosis was out and clear…my liver, which is already weak, is supposed to process the progesterone but it is not doing its job. This explains why the symptoms that were minor at first became worse every month. She immediately ordered a lab test for my liver, thyroid gland, etc. I also mentioned to her the result of my research that related high cholesterol level to HRT. She confirmed my doubts…my HDL was lowered and LDL increased as a consequence of taking some progesterone, which is a common side effect of that hormone.
I can't believe that we are so much at the mercy of these GPs and their habit of making all these hard drugs so readily available without looking at the broad picture, the family history, the existing illnesses, etc. Can you imagine the consequences of having taken that Mevacor. One case of peripheral neuropathy is one too many for me, thank you. And what about blurred vision when I'm already suffering from retinitis pigmentosa. It's bad enough that I don't have any lateral vision, what's left could have been blurred. Yes, I know what you will jokingly say to me…another symptom, another pill!

According to Dr. Faraci, progesterone is not for me. I will continue to take the estrogen and she will monitor my uterus and ovaries every six months. Besides the annual pap test, she will perform regular ultrasounds. According to what I read -- and she gave me the same statistics -- one woman in 100 has a chance to have uterus or ovarian cancer by the time she reaches the age of 80. With progesterone and estrogen, this figure remains the same but it jumps to six to eight per 100 when the woman takes estrogen alone. At 41, I prefer to take that risk that I still consider minimal, knowing that I will be closely monitored, rather than worsening my already weak liver. As she said, it is much easier to remove a uterus and ovaries than to replace a liver.
I hope this information will shed some light on this issue and help others in making a decision. When I have results on my cholesterol level that I am trying to reduce naturally, I will let you know and will give you a detailed information on what I take. I have a feeling that I am using an automatic weapon to kill a fly but I still believe in the saying "better be safe than sorry" when it comes to my health.


Women with CMT speak out
With Linda Crabtree (1996)

As women who have a disability, we owe it to ourselves to make sure we have the best medical care we can find. We also have to be assertive when it comes to finding that care. I recently ran across the article below and thought you'd like to read what most of us have known all along:

"A woman's health advocate is urging women to play a bigger role in their health care.

Dr. Carolyn DeMarco, author of Take Charge of Your Body, told a group of 75 women that conventional medicine is not their friend.

"Women's health as a special subsection of health isn't really addressed by conventional medicine."

DeMarco said in more than two decades of practice she has found women being treated as second-class citizens by the male-dominated medical profession.

"What I found is that women weren't listened to. The doctors did not take their complaints seriously.

"Their doctors did not respect them as equals. And when they would have a valid physical complaint, the doctor would say 'It's all in your head.'"

DeMarco, a general practitioner in Nelson, B.C., was in Edmonton to participate in the World Congress on Medical Acupuncture and Natural Medicine."

Linda here – So it's up to you to be assertive and demand that you and your symptoms be taken seriously.

While we're talking about being assertive, I'm happy to say that I've been getting some feedback from women readers who are putting themselves first for the first time in their lives. How many times have we said: I should get more rest; I should quit this job before it kills me; I should get some help around the house; I should get that operation done the doctor said would let me walk better; or asked yourself what your boss would do if you weren't on the job; or your kids would do if you weren't around to pick up their clothes, make the beds, or prepare the food.

Some of you are actually acting on your desires. You are being assertive and doing what you say you want to do. I say congratulations and a hearty pat on the back to all of you who have taken back control of your life. You can control it, you know, you just have to make it a priority and put yourself first. And take it from me, hanging on until the last vestige of strength is gone isn't smart. It may not come back. Remember, if you don't look after yourself, no one else will!


Thoughts on Us…
by Linda Crabtree (1990) 

Working with so many of you every day, I am what you might call instilled in CMT. I read your letters and talk to CMT people every working day of my life and, believe me, you are not far from my thoughts on off hours either.

When things happen often, they tend to become issues that I need to write about. Lately I've had an overwhelming urge to write something about the way we feel we are treated by doctors and the medical profession in general.

I'm not doctor bashing; we have some wonderful doctors with us who understand CMT and work with us beautifully BUT there are some who fall into the category of insensitive, to say the least, and we pay for their lack of humanity.

About once a month I get a call from a woman who starts her telephone conversation just fine but after about two sentences she is reduced to tears. Usually she has just returned from the doctor or the lab where she has had tests done, most likely an electromyogram (EMG). She sobs those long heartbroken sobs that let you know that she feels as though she has been violated. This isn't a sexual thing, mind you, it is a self thing, a soul thing, a feeling of losing control over something that is being done to you that hurts and humiliates and no one cares.

As brutal as it is for some of us, needle EMGs are still ordered by some doctors to diagnose the irritability and function of muscles. These tests are diagnostic, and since there is no treatment or cure for CMT, they aren't instrumental in helping us. Some doctors ask for one every year or every other year. Remember it is your body and it is up to you if you want to put yourself through this or not. Sometimes you have to say no, but if it's your first time out, you won't know if it is going to really bother you or not. We find that the people with less muscle mass (mainly women) are the ones who really feel EMGs. Ask for a motor nerve conduction velocity (MNCV). It is done without needles and could be just what the doctor needs.

How to recover from something like this? Have a good cry if you can. I sat in the parking lot of the local hospital for 15 minutes sobbing almost uncontrollably before I could stop shaking and start the car to drive home. I truly felt violated, there is no other word for it.

To top it all off, when I went to another doctor, out of town, he told me he couldn't read the previously taken test and I had to have it all over again. This time my husband sat at the end of the bed and watched what happened. As the neurologist kept upping the current and I found I could no longer keep smiling I began to wonder why the doctor didn't quit. He didn't and when I was finished I was shaking so badly I could hardly move, had blood all over my new slacks and felt like a limp dishrag. Thank God, Ron was there to help me both physically and morally. I needed the moral support more than anything.

If crying isn't your way of letting it all out, try to make it home without falling apart. Take a nice pampering bath or shower, make yourself a cup of comforting tea or coffee and put some nice music on. Think about yourself, your body and that it really is yours, that you have it back and it is okay and will only get better as the experience wears off. Try to be as calm as you can, take nice deep breaths and comfort yourself, withdraw into yourself just for a little while. It takes time to mend from these experiences and you need that time all by yourself, even if it's only an hour away from the kids, the kitchen, the phone and the office. No one can violate your mind unless you let them and that's what counts. You'll be okay, but you have to know how to be okay, how to help yourself mend. If you have a good friend, talk it out while your hair is still wet from the shower. If you don't have a good friend who would understand, call me.

Another insult to our sensibilities is being made to feel we are alarmists and that our disease is nothing. I've been told many times that some doctors, and technicians, think "CMT is nothing," to put it in their words. Granted, compared with some of the muscular dystrophies and diseases like Friedrich's ataxia and ALS, we got off lightly, but never should anyone be denied their disease concerns because it isn't as bad as that of the next fellow.

We've also been told we have no pain, that we couldn't possibly have pain associated with CMT, until Dr. Hardy surveyed many hundreds of us and found that indeed there can be pain associated with CMT and that it is very real. No one should ever deny anyone their pain. Pain is a personal thing. It cannot be seen but to deny a person their pain is to deny them their very being.

The old pat on the shoulder by a doctor and being told that we have Charcot-Marie-Tooth disease or Peroneal Muscular Atrophy or Hereditary Motor and Sensory Neuropathy, whatever they know it as, it's nothing, just go home and live with it, isn't good enough. We need to know what is going to happen to us. The problem in most cases is that the doctors don't know. We stress that it is our job to teach them and to be our own experts. We say this for a reason. The medical profession can't be expected to know everything. There are thousands of rare diseases, ones that there simply isn't time to study in-depth in med school Ours is very prevalent, but, because it isn't life threatening and because it doesn't put many of us in wheelchairs, it isn't a priority with the medical profession. So, we have to know what's going on or we lose.

If a medical person poo-poos your CMT as being nothing, try not to get too upset. The situation isn't worth it. You have to be strong in yourself and your knowledge that you have to know and will find out. Also you know how you feel about various treatments, you know what drugs do to you, and you know how you feel when you no longer have control. You and I both know the apprehension we have concerning our well-being. It's only natural. We are only given one body and we only go round once. When our body starts to do things it shouldn't, we need to know why. For answers, find another doctor, one who understands CMT and tries to answer your concerns rather than dismiss them. We are developing a referral list just for this type of situation. Also, read your newsletters, keep them. I don't know how many times I'm asked the same questions over and over again when the answers are in the newsletters.

If any of your concerns can be addressed by writing to the heads of the departments at the hospitals or clinics you feel you've received intolerable treatment through, wait until you calm down; this is important as you'll lose your credibility if you sound hysterical, and then, by all means, write. Make sure you write to the head of the department or head of the hospital. No clinic or hospital wants to keep on an employee who is giving the hospital a bad reputation and the more complaints a health care institution receives about an individual, the sooner they will be investigated. Send a copy to the doctor in question and to the doctor who referred you to that person and make sure you note those copies sent on the original letter.

We are trying to ask the questions of the medical experts that we all want answered. Because we represent so many of you, we are attracting some very good doctors who are interested in CMT. Some of them, like most of those on our expanded advisory group, actually volunteer and are eager to do work on CMT. Thank heaven for these dedicated people and here's hoping that we'll find more of them who are willing to lighten our lives.

In the meantime, hang in there, the answers are coming. Be strong, play it smart, and always look out for number one, YOU.


Work


I've tried to keep doing the things that I love
by Jana Ragogna

For several years now I have enjoyed receiving the CMT Newsletter so that I can be more informed about this disease. Six years ago, when I had just turned 33, I was diagnosed with CMT. I felt numb but finally someone had put a name to the problems I was having with my lack of balance and flexibility. My husband, two children and I had just moved into our new two-storey home. It's not always easy on the stairs as I have developed a drop foot and my legs don't always do what I tell them to do (like move) but I don't let it get me down for long. There is too much I want to do. [Jana Ragogna]

I was so pleased to hear that you (Linda) had received the Order of Ontario presented by Lt.-Gov. Jackman. I have a special interest in this because my husband has been an aide-de-camp for the lieutenant-governor since John Black Aird was in office.

Before I started having problems, I would occasionally act as a tea hostess when my husband was on duty. We have met some very interesting people through the different functions. My most memorable event was meeting Prime Minister and Mrs. Mulroney and the Prime Minister of Italy at a small private reception last year. I went out and bought a pair of flat, very comfortable shoes that were not very noticeable and I hugged the railing as much as I could that evening. My husband has been involved in the military reserves besides his full-time job. Because of his involvement, I've been presented to Prince Charles (1979), and last year I watched very proudly as my husband escorted Prince Charles as he inspected the troops when he first landed in Toronto.

I have tried to keep doing the things I love but not all have worked out. I worked in real estate for a few years, but when I started having trouble on the stairs or putting my shoes on after going through a house, I decided that was enough. I then supply taught the elementary grades for several years. Again, CMT was catching up to me. I was finding it more and more frustrating writing on the board and keeping up with the children. During the last years, I have developed a love for decorating flower arranging and crafts. I have rag rolled and stencilled throughout the house with impressive results. I have learned how to paint T-shirts when my hand is feeling strong.

I wanted to start my own business that I could be productive in and not have to depend on others to make an income. I also wanted to be able to stay at home for my children. Drew is in Grade 4 and loves baseball and judo. He is two months into it and he has just received his yellow belt. And Kate is in Grade 2 and has just started gymnastics. Both of them are healthy and active with no signs of CMT. Hopefully, that's the way they will stay!

Anyway, I did start a business that I felt I could continue even with the progressive effects of CMT...and hope to start marketing in the next few months.


Linda here –That's it! If you have further questions about CMT I will suggest you join the Facebook page CMTUS and if you have any questions about what you have seen on this site regarding CMT please use the contact page to get in touch with me. Thanks!