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Toni and Mike
Dad and I were diagnosed with Centronuclear Myopathy (CNM) in January 1999. Getting there for me was a long process - I saw my first doctor, aged 18, believing that I had problems with my back and poor posture, which I now know to be Lordosis. He wanted to cut both my ankles open and lengthen the heel cords, a procedure that I understand is called Tendo Achilles surgery. The thought of having both legs in plaster for at least six weeks scared me immensely and I decided not to go down that route before getting a second opinion.
Around 1993, electrical tests revealed I had a mild muscle abnormality and shortly after this time, dad began to experience his own problems. He subsequently underwent a muscle biopsy; the muscle was taken from his lower leg and he appeared to suffer no ill effects - he has no scar but his muscle biopsy did not provide a definite diagnosis, he was told only that he had some form of Muscular Dystrophy. Recognising that Dad and I had similar symptoms, I too requested a muscle biopsy. I was told it was unlikely to provide any information but it was agreed to carry one out all the same. Muscle was taken from my upper arm and I experienced quite a bit of discomfort / pain after the anesthetic wore off and in the days afterwards, until the stitches were taken out. My doctor told me I would be back in work in the afternoon but I took the day as leave and was glad I did. Afterwards, my arm healed badly and I developed a Keloid scar - this has faded a lot over time but is still visible. However, my biopsy showed all the classical features of CNM and when our biopsies were compared it could be seen that they showed similar features, although dads was said to appear more dystrophic. In light of my biopsy, both dad and I were diagnosed with Centronuclear Myopathy. At this point, I had seen 3 doctors over a period of 10 years and my medical records show that Nemaline Rod Myopathy and Facioscapulohumeral Muscular Dystrophy (FSHMD had both been considered over the years - so in our case, a muscle biopsy appears to have been very important, in obtaining the correct diagnosis.
Dad and I have the Autosomal Dominant form of CNM which means that only one copy of the genetic error is needed to cause the condition and one good copy cannot compensate. This form of the condition affects both males and females and according to the Muscular Dystrophy Campaign there have only been twelve families reported which show this pattern of inheritance. Dad and I later got our Dynamin 2 (DNM2) mutation diagnosis as a result of being enrolled in the Beggs Laboratory research project, when, in November 2005 the gene that causes this form of the condition was identified.
Dad and I share symptoms in that we do not walk comfortably and stairs can be hard going for us. My grip is poor, particularly in my right hand and I am right handed too. I am constantly buying things in the supermarket and then realising when I get them home they are 'Toni proof'. Neither dad or I can get up from sitting on the floor to standing without support and we need to use the hand rail when using stairs; dad has a hand rail on either side of his stairs at home. I am unable to stand straight with my heels flat on the floor without flexing dramatically from my hips but it seems I have compensated for this without even knowing it, as I always stand with one foot flat and one foot slightly bent and then I look quite ordinary; I have been told that I disguise my condition very well. I saw a physiotherapist and an occupational therapist at the hospital for a short while. The occupational therapist advised me I have muscle wasting in my hands. She gave me a splint for my right hand which I was advised to wear over night because of shrinkage in my tendons and wrist. I found it uncomfortable and later it was decided that as the problem did not appear to be getting any worse, it was no longer necessary for me to wear it. Dad worked throughout his life up until 31st December 1999 when he retired because of ill health. He didn't begin to show symptoms until in his early 50's - now he has begun to use a walking stick and has a tendency to fall.
I have always had problems with walking long distances, I am quite flat footed and tend to fall over my own feet if I am not careful. I never enjoyed sport, doing everything I could to get out of it. In addition, I have a very weak voice which others often find difficult to hear and which I find very frustrating as I do not feel it truly represents who I am. I was recently told by a tutor that my writing had a strong academic voice - I was overjoyed.
Finally getting a diagnosis was a strange experience; after seeing three doctors over ten years, I had a diagnosis but very little else. I have since learned that the condition is progressive but the rate at which this occurs is highly variable between individuals (although there are many similarities between dad and I, there are also many differences). Generally individuals with X-Linked CNM / MTM progress rapidly but the Autosomal Dominant form my father and I have is less severe and progression is much slower. The one certain thing amongst all the vagueness is that were I to have children, there is a 50% chance that my children would have this illness also.
Today, I do not feel that much different than before my diagnosis. I am fortunate in that I am not in constant pain, although certain things cause me momentary pain or frustration and I do experience a lot of tiredness. I tend to tell people about the condition on a need to know basis. Truth be told very little is known about the condition and neither dad or I really knows what our future holds; I worry about how people will react if I tell them, so for the most part I say nothing. On a more positive note, getting a diagnosis has actually been really good for me because now I know there is a reason behind why I have struggled with so much throughout my life and so have been able to give myself permission to stop beating myself up so badly. I have been able to make changes to my lifestyle and plans for my future and putting together this website has been enlightening and therapeutic.
Dad and I attend the Walton Centre in Liverpool once a year for a check up, DNA testing was done on our whole family shortly after our diagnosis and dad and I have taken part in the Harvard Neuromuscular Disease Project. Dad attends the Neuromuscular Centre at Winsford almost every week, where he has physiotherapy and hydrotherapy treatment in their heated pool. The use of the pool means he is able to exercise more strenuously than he would otherwise. Since finding a job with flexible working hours, I now attend for physiotherapy also; the aim to try and maintain what movement I have and to prevent or atleast postpone any possible progression.
Although I have concentrated on the symptoms of our condition and the things we can't do, we actually lead very normal lives. Although dad has now started to use a stick to get around, I do not and neither of us use a wheelchair. For all the things we can't do, maybe lifting a heavy box or opening a jar or bottle for instance, there is usually an alternative way to do something. This may mean that it takes us longer to do something but not that we are incapable of doing it all together. We are both aware that maybe our futures are not as rosy as some but at this moment in time our present is much rosier than many. In short we are trying not to let the condition define us, whilst doing what little we can to raise awareness and help with research and living each day to the best of our abilities.
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By Toni Abram
