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!

In any case, during our visit to Michigan at the end of January, we were able to have our other two children tested and found out that our seven year old is unaffected and our three year old does have CMT. I thought that was the case but it helps to know for sure. My father-in-law and brother-in-law who also have CMT are also a part of the study with my husband and daughter.

From Barbara Bishop, FL, U.S.A. I was diagnosed as having CMT at three years of age. I am 40 and use orthotics in my shoes and only need to wear my AFOs for hikes and walks. I have two boys, 16 and 13. My husband and I discussed having them tested and decided against it.

Our oldest son appears to be fine except for extremely flat feet, but then so does his father and his brother. Our youngest, however, complains of ankle weakness, foot pain and a generalized feeling of weakness in his legs after getting over a cold or flu. He is followed by the same podiatrist who treats me and last year received his orthotics which have helped him immensely. He is very active, enjoying in-line hockey and just puts his orthotics in his skates.
The point of telling you all this is to say that it doesn't matter if our children have CMT or not, we would not treat them any different than we do now. I am aware of the signs and symptoms and limitations of CMT. I have discussed this with my children as well as the possibility that they may also have it. I encourage them to do whatever they feel comfortable in doing.

One thing I learned from my youngest is that when you're tired, you stop. I used to, sometimes still do, push myself to the point of fatigue then pay for it the next day. I feel strongly that we need to trust our kids. Kids listen to their bodies better than we do. As a nurse, I have witnessed many children stop playing to lay down on their own accord.

To test them for CMT causes unnecessary stress for both the parent and child. If we provide them with age appropriate information about CMT and that they may also have it, then that should prove enough to make decisions concerning health care, safety, etc.

I also question if the purpose of the test is more for the child or the parent. Actually, the child couldn't care less. I asked my 12 year old if he wanted to know for sure if he had CMT. His first response was, "Why?" Then he wanted to know if the test would hurt and if he would have to stop playing hockey if the test was positive. Needless to say, he has not been tested. If one day his complaints of pain drastically increase or he has an increase in weakness, then I will have him tested, but not to confirm a diagnosis of CMT but to rule out the possibility of something else.

From Cathleen Fuhrmann, MO, U.S.A.
How can knowledge ever be a bad thing? Twenty years ago my brother was diagnosed with CMT, and my parents were told that although the rest of us didn't show any clinical symptoms there was still a possibility that especially the female children could have inherited it and therefore passed it along.

Twenty years ago there was no simple blood test, only the nerve conduction study which can be painful; however, it still could be diagnosed. This was valuable information I did not choose to use.

My son who is six and my only child was showing what I thought to be signs of CMT. I would never have put him through a painful procedure at his young age, but since CMT can now be detected through a simple blood test, I went ahead and had him tested. He tested positive for CMT!

Quite frankly, there has been pain associated with this new knowledge; more pain now than I would have experienced 20 years ago had I been diagnosed then and not passed this on to my son. It is for this reason that I strongly urge females with CMT in their families to be tested.

Regarding children being tested, a better question might be, "When should children who've been tested and test positive be told that they have CMT?"

I have not disclosed this information to my son and I'm not sure at what point I will. I want him to experience as normal a childhood as possible, and this is where knowledge can be helpful. With the knowledge I have about CMT, as an adult and as his parent, I can now direct, encourage and support him in ways that I would not have been able to had I not known, ways that can only benefit him as a person with CMT.

Simply put, it's all how you use your knowledge. Knowledge does not have to be negative; knowledge can be used to do good, positive things. After all, where would all CMT people be right now if nobody ever wanted to know anything about this disease? We have progressed with this only because we have persisted in knowing.

Although nothing can be done yet to significantly alter the disease, I feel that I have more power to make choices for my son. Later, as we learn more about this disease, he will have many more choices he can make himself.

We have choices in this life…knowledge gives us the power to make proper and positive choices. Knowledge gives us more knowledge and more choices. Not knowing gives us nothing.

No problems, no tests
Ed Lewton, IN, U.S.A. writes: Things are going well for me and my family. There was a question in the last newsletter on whether or not children should be tested for CMT. My wife and myself feel that our kids (two boys and a girl) will not be tested until a problem develops.
Our three kids understand that it is possible for them to have some of the same problems that I have, but right now they are alright.

I developed problems after I was 35 years old. I was very active in high school athletics, and still consider myself very active. I still play golf, like to take walks, bowl, fish, even play a little basketball, all of this is done with the use of AFOs. I may not be as good as I once was but I still enjoy the activities.

My three children are also very active in the following activities: basketball, golf, tennis, swimming, marching band, etc. As long as Matt, Marcus and Andrea have no problems they will not be tested.

To test or not
From Julia Coupe, U.K.: "I am getting genetic counselling, my time to face reality, and what of my younger son. The doctor seems to think I should wait to have him tested when he is older, he is nearly five, but I disagree. I think we should know. I went through torture at school because I was useless at sports. I hated it but could not understand why, although I tried, I was no good. I also think that with the risk from some anesthetics we have the right to do what is best for him.

I am still left with this question of WHY? Why was my condition never explained properly to me. I visited the hospital for checkups every year from age 7 to 16. Is this the response most of your members got from the medical profession? Is CMT really why when I had my second son a routine lumbar spinal block froze me solid from neck to feet for 20 hours when it was supposed to freeze my waist to my knees for about one hour? Is CMT why my stomach muscles collapsed after both pregnancies? Is CMT why I sometimes have trouble turning on the household taps, opening the petrol cap and always dropping things? My own doctor says not. He says peroneal muscular atrophy only attacks the lower leg!"

From Gwen A. Thrower, ON, Canada: In regards to testing children, I would not have them tested unless they were having some difficulties or showing signs of CMT. I feel it would have a significant impact on them and they may not try many things thinking that they just can't do it because of CMT. If there was anything we could do to stop the disease from progressing if it was diagnosed early, it would be beneficial to test children.

Barbara Young of Louisiana writes: "I don't know from whom I inherited this disease. No one in my family seems to be affected. I have one child, her name is Tara, and she is 13 years old. I have had her checked for scoliosis a couple of times. My neurologist gave her a basic exam, checking her reflexes and strength. He said she has no symptoms or characteristics of CMT but still I am so afraid of what will happen to her in the years to come. This is why I want to learn all I can about CMT. I want to be able to educate my child on what could affect her or her children."