2 November 2005

My father and were diagnosed with Centronuclear Myopathy in January 1999 - this is our story.

At the time I had been struggling for 10 years to get a diagnosis and had seen three doctors. I recognised at 18, that I had poor posture and saw my first specialist in the belief that I had problems with my back, which I now know to be Lordosis. The specialist wanted to cut both my ankles open and lengthen the heel cords, a procedure that I believe is called Tendo Achilles surgery. The thought of having both legs in plaster for at least six weeks scared me immensely and I decided to get a second opinion.


Toni Abrams and her father Mike Around 1993 I had electrical tests at the Walton Centre in Liverpool, I was told I had a mild muscle abnormality. Shortly after this time, dad began to experience his own problems and around 1998 he had a muscle biopsy which proved inconclusive. Recognising that Dad and I had similar symptoms I too pushed for a muscle biopsy. I was told it was unlikely to provide any information, however as a result of my biopsy, dad and I were subsequently both diagnosed with Autosomnal Dominant Centronuclear Myopathy.

According to the Muscular Dystrophy Campaign there have only been twelve families reported which show this pattern of inheritance. In November 2005 the gene that causes this form of the condition was identified and Dad and I have learnt that we were part of study that led to the discovery of the gene along with others from Europe and America. The gene is known as DNM2 and its discovery will allow for the improved diagnosis of individuals with Autosomal Dominant CNM, as well as allowing for prenatal diagnosis. In addition, the understanding of DNM2’s role in muscle permits an increased understanding of muscle function, bringing scientists closer to developing treatments and cures for all congenital myopathies.

Dad and I share symptoms in that we do not walk comfortably and stairs can be hard going for us. My grip is very bad, 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 a sitting position to standing without support and we need to use the handrail when using stairs; dad actually has a handrail on either side of his stairs at home. I am unable to stand straight with my heels flat on the floor without bending right over 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 31 December 1999 when he retired because of ill health. He didn't begin to show symptoms until maybe 10 years ago, so had a normal life up until that point. Now he occasionally uses a walking stick and has a tendency to fall.

Although I wasn’t diagnosed until I was 28, I did seem to show a lot of symptoms, that in retrospect were probably signs - it is just that no one was looking for them. As a child I had very bad asthma which put me in hospital a lot. I was somewhere between 18 months and two years old before I learnt to walk, my mum says I used to go everywhere on my bottom! The doctors thought I had one leg longer than the other and there was talk of me having a calliper but that never happened. 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 Autosomnal 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.

Seven years on and 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 new job with flexible working hours, I have now started to attend also, although less frequently; the aim to try and maintain what movement I have and to prevent or at least 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 people's 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, while doing what little we can to raise awareness and help with research and living each day to the best of our abilities.

Visit Toni's website at: www.tonilouise.tripod.com