Linda here: I have received calls and letters from two mothers regarding their sons who have impacted bowels and who do not seem to be able to pass waste no matter what they do. The first lad in question is 14 years old, and because of all the personal invasive procedures that have to be done on him to help him defecate, is becoming very withdrawn and defensive, and frankly, who can blame him. The second young man is only 7 and I quote his mother's letter:

"I am writing you this letter to ask you if my son's problem with his bowels would have anything to do with CMT. He is 7 years old and his bowels move maybe once a month and when they do move it is extremely large and dry. I took him to see a specialist and he said that some people hold it in for so long that the bowel becomes lazy and won't work properly any more. He suggested stool softeners and enemas. I was giving him triple the normal dose of stool softener (which the doctor suggested) plus enemas, and the stool softeners did absolutely nothing. The only time he goes is after an enema, and his stools are hard as a rock. I phoned the doctor back and he said other than enemas he does not know what to do. I really don't want to keep doing this as I believe he will become too dependent on it. I do give him one a week as I notice his behavior changes so much. He gets so hyper and after he has a bowel movement he is calm. I still give him stool softeners and he eats well (lots of fibre) but nothing seems to work.

Dr. Paul R. Billings, Vice Chairman, Department of Medicine and Chief, Division of Genetic Medicine, San Francisco, CA replies:
"As for the issue of constipation in CMT, as you are aware, many forms of muscular dystrophy involve the bowel, to some degree. There are direct effects, that is the loss of muscle cells from the bowel wall, as well as indirect effects having to do with decreased exercise and other activity. The result can be infrequent bowel movements, severe constipation and impaction leading to the need for surgical intervention.

"Therapy is problematic. I would strongly suggest that any family struggling with bowel problems related to muscular dystrophy seek counseling from a dietician. Low residue foods, copious liquids and stool softeners should be the mainstay of the diet. Vitamins and other caloric supplementation may be necessary. The muscular activity of the bowel can be assessed either by radiographic studies or by direct pressure measurements. If they are abnormal, then there should be no fear about using enemas since they may simulate any residual muscular activity which is not coordinated in the dystrophic bowel.

"This is an exceptionally difficult problem and there are unfortunately no "sure-fire" cures. Close collaboration between physician, the dietician and the family can reduce the number of emergency room and other hospital visits for a poor bowel function in individuals with forms of muscular dystrophy."

Dr. Thomas D. Bird, Chief, Neurology Service (VA Medical Center) Professor, Neurology and Medical Genetics (University of Washington Medical School), Seattle, WA replies:"Apparently, there are two families whose sons have severe constipation sometimes including bowel impaction. This is a most unusual and atypical problem in CMT. The autonomic nervous system regulates intestinal motility, and only a little bit is known about the autonomic nervous system in CMT. However, since it is part of the peripheral nervous system, it may occasionally be affected in some, but not all forms of CMT. I would make several suggestions to those families. First, have a neurologist who is familiar with CMT address the question of what kind of CMT is present in their sons and what part of the nervous system it is affecting. Second, they should see a board-certified specialist in gastroenterology to determine as best as possible the cause of the severe constipation. Third, the gastroenteroloigst and/or a physiatrist (rehabilitation medicine specialist) who specializes in bowel problems should advise them on the best treatment and therapy for their particular problem."

Dr. Lowell L. Williams, Children's Hospital, Columbus, OH replies:
"I do not think that the bowel problems described in the letter and the other boy are directly related to CMT. Such lack of bowel muscular activity is so rare in CMT that it must be another condition. There are two possibilities. It is either a low grade secondary infection possible because of the immune defects of CMT itself (that I have often written about). Or it may be another genetic defect in intestinal motility (nerves or muscles) that happened to be present with CMT. In either case, there are medical centers where nerve conduction and muscle contractility to the bowel can be tested. The transit time of intestinal contents can be measured and general excretory and liver function should be evaluated by blood chemistries. I do not know the costs of these tests but imagine they are not cheap. The kind of treatment would depend on what was learned from these tests about the basic reasons for the bowel dysfunction. I hope that these mothers can arrange to seek further medical attention for their sons."Linda here: We felt we needed someone to answer this question who looked at what all of this could possibly be doing to these kids and how they are developing. We asked psychologist Dr. Alan Goldberg.
"I have been asked to respond to questions concerning treatment of an adolescent with severe bowel impaction associated with CMT. Please note that I am a licensed psychologist and not a medical doctor.

"The importance of involvement of pediatric specialists is vital when dealing with medical problems of children and adolescents. Children are not miniature adults! Developmental phenomena must be recognized in differentiating the treatment of illnesses which have similar causality, diagnosis, and/or course in children vs. adults. Psychosocial aspects may vary markedly between children of different ages, adolescents, and adults. Knowledge of the developmental issues is necessary to ensure that the most appropriate and comprehensive treatment is provided.

"For adolescents in particular, dependency vs. independence are important developmental issues. Peer relationships and support are a part of the normal process of building identity for teenagers. Support groups and/or counseling groups can be useful in treatment of teens with medical disorders. The teen with bowel or bladder dysfunction resulting from CMT may benefit from peer support from others with elimination disorders. Individuals who have had a colostomy or ileostomy, those who suffer from colitis, and those with other digestive problems might be grouped with a teenager such as the 14-year-old teenager challenged by CMT related bowel dysfunction.

"Issues of privacy, modesty, and emerging body awareness must be reckoned with when dealing with teens. The scenario of regular enemas from his mother would likely be stressful for the adolescent male faced with bowel problems. It may be useful to educate the young man concerning signs and symptoms of impaction so that he can self-monitor and learn to request help more independently when needed. Medical personnel could be consulted about the feasibility of teaching the teen to do enemas independently if his dexterity and motor function allow for this. Contracting with a male pediatric nurse from an agency such as the Visiting Nurses Association might be another way of dealing with privacy, modesty, and body image issues.

"Relaxation techniques including hypnotherapy can prove beneficial in work with children and adolescents as well as adults. I have used such techniques to control pain in pediatric intensive care burn units and more recently with an adult client challenged by CMT. It may be appropriate to consult a physician concerning use of such procedures for relaxation of the anal sphincter (the tight band of muscle that holds the anus closed). At the very least, such treatment may decrease stress and pain associated with the problem.

"Please remember that many professionals work with mental health/psychosocial issues. These include psychologists, social workers, MFCCs (marriage, family and child counselors) and psychiatrists. State licensing boards offer licensing or certification to members of these professional groups in most areas of the United States and Canada. The American Psychological Association, with headquarters in Washington, D.C., has brochures containing valuable and relevant information about choosing a therapist."