CMT - TESTING AND DRUGS
Charcot Marie Tooth Disease

by Lindsay McKirgan

I am a mother of three children - Michael 9, Christopher 7, and Elizabeth 9 months. I only recently became aware of the CMT support group. Since then I have been informed so much about CMT, and have attended a meeting where I met a neighbour and his sister also with the condition. I cannot praise the organisation enough for the help I have received from individuals and the group as a whole.

I believe that my experience will be helpful to anyone trying to get their children tested, or considering whether or not to have them tested. Recently my husband and myself took our children to the genetics clinic at Taunton's Musgrove Hospital, where we have been receiving genetics counselling after the birth of our daughter. Until then I did not even know there were different types of CMT. I had the blood test to see what type I was and was found to be Type 1A. The blood test was then offered to us for our children. We had all the facts put to us about having the three children tested. We were asked to go away and really think about how we would treat them if one or all were found to have CMT.

We returned two months later with a clear mind that to have the children tested would be in their interest, especially as Christopher was showing signs that he could have CMT. We decided we would have the two boys tested. I did not think it would be beneficial to put an eight-month old baby through a blood test when she shows no signs at all. Today I feel differently. The blood test takes six to eight weeks. We are still waiting for the results.

I recently a meeting where Dr. Banerji answered questions put to him by an audience of CMT sufferers and their relatives. It was a real insight into the condition. I had been diagnosed at 21 (by electrical conductive tests), already three months pregnant with my first child. Up until this year I had no idea that there was a blood test to diagnose CMT. As I sat and listened to parents and grandparents stating that they cannot get their children and grandchildren tested, I realised that I had been lucky to find a genetics clinic offering the blood test.

Margaret Read spoke briefly, mentioning the list of drugs to avoid because they could exacerbate CMT. I mentioned to Margaret that three years ago Christopher had been operated on for glue ear, and had severe problems during the procedure with the anaesthetic suxamethonium. A parent will understand that signing the papers giving permission for an operation to be carried out on your child is a great responsibility, but to then find that a simple procedure could have been life threatening is hard to come to terms with. I received the drug list. On the list of anaesthetics to avoid was suxamethonium. My son was sensitive to the anaesthetic.

Surely this problem with the hazard of drugs is a good enough reason for all children of CMT sufferers to be tested, even if they show no signs of actually having the disease. My son at the time showed no signs of having CMT, even though he does now. Suxamethonium is not an essential anaesthetic. There are others that are as good, and not all CMT suffererers will have a problem with it, but for safety's sake it should be avoided. I am not certain if CMT was the reason for his problems with the anaesthetic or not, but at the time he was tested further and I was told that he should avoid it. I hope that if nothing else, my experience will help someone to make the right decision for them concerning CMT testing.