Toni and Mike
My father and I were diagnosed with centronuclear myopathy (CNM) in January 1999. Both diagnosed as adults, dad was 55 and I was 28.
Looking back on my own life, it does seem there may have been early signs of a problem. I was somewhere between 18 months and 2 years before I learnt to walk - my mum says I used to go everywhere on my bottom, including up and down stairs like a little frog. As I grew older, the doctors thought I had one leg longer than the other and at one point there was talk of me having a calliper.
Aged 18 I saw a doctor 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 and then having to learn to walk again, 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 - a muscle sample was taken from his lower leg and the biopsy indicated he had a 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 and a muscle sample was taken from my upper left arm. My biopsy result showed all the classical features of CNM and when my biopsy was compared with my dads it could be seen that they showed similar features.
In light of my biopsy both dad and I were diagnosed with centronuclear myopathy. At the time of diagnosis, I had seen three doctors over a period of ten years and my medical records show that nemaline rod myopathy and facioscapulohumeral muscular dystrophy (FSHMD) had both been considered before centronuclear myopathy was proved by the muscle biopsy.
I remember receiving the diagnosis felt quite overwhelming and lonely - we were told there were very few others in the world with our illness, that there was no treatment, no long term prognosis could be provided and I was advised that if I were to have children, there was a 50% chance they would have the illness also. This is because 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 at the time of writing, the Muscular Dystrophy Campaign reported there were only twelve families worldwide known to have shown 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. Stairs can be particularly hard work for us and these days we will both choose taking a lift over stairs and for dad who is clearly symptomatic this is very acceptable to the world at large but at present I think I look I should be able to manage stairs, so this does me cause me problems at times with people who know nothing about my condition.
I am constantly buying things in the supermarket and then realising when I get them home they are 'Toni proof'. My grip is poor, particularly in my right hand due to muscle wasting and shrinkage of the tendons in my hands and wrists. I have a splint for my right hand which I have been advised to wear over night but I am bad at wearing it because I find it painful. Neither dad or I can get up from sitting on the floor to standing without support easily, which can be embarrassing if for example we fall outside, where there is nothing to pull ourselves up with and we need to use the hand rail when using stairs. Dad has a hand rail on either side of his stairs at home but I have always resisted doing this as I don't want to get so I rely on something I know I can't have in the outside world.
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. When I was once told by a tutor that my writing had a strong academic voice I was overjoyed. I am often told that I disguise my condition very well which has always been something I have felt proud of however due to my lordosis and the shrinkage of my heel cords, I am unable to stand upright with my heels flat on the floor without bending in half. I compensate for this by standing with one foot flat and one foot slightly bent or by holding and leaning on things such as tables or chairs to get the support that I need but take these things away from me and life becomes more difficult. I recently took what felt like a huge step and got myself a walking stick. It folds meaning I can carry it with me when I am out and about and it will be there should I find myself standing around anywhere without support for any length of time but it can be folded away again when I don't need it. It is a small step towards finally admitting I have a problem and trying to be more open with the world about this which up until this point I have found difficult.
I have always had problems with walking long distances and tend to fall over my own feet if I am not careful as I tend to lead with my toes as a ballet dancer would. I never enjoyed sport, doing everything I could to get out of it. I experience some pain in my lower back and my left leg due to the way I stand and I often feel like I am permanently tired, which I am told is muscle fatigue. Such things appear not to have been so much of a problem for dad - he didn't begin to show symptoms until in his early 50's and worked full time until 1999 when he retired because of ill health. Dad has used a walking stick for a number of years and recently got a scooter and a wheelchair as he is unable to walk very far at all these days.
For a while I attended a physiotherapy clinic at my local hospital. The physio who was not trained to understand muscle diseases would spend considerable time twisting and moulding my body and placing my feet and arms in a particular way, only for me to immediately flop the moment she left me to stand alone. Both dad and I now attend for physio at the Neuromuscular Centre (NMC) in Winsford. Dad attends for physiotherapy and hydrotherapy treatment in their heated pool once a week. The use of the pool means he is able to exercise more strenuously than he would otherwise. I attend for physiotherapy once a fortnight where I am given stretches, do ball exercises which help strengthen my core and use a standing frame for around 40 minutes each visit.
We are fortunate in that we live a half hour drive from the centre, which is only one of two specialist centre for adults with muscle disease in the UK. Treatment is designed for the individual and rather than trying to cure bodies and make them work normally, the focus is on maintaining current movement and flexibility for as long as possible. The physios understand muscle disease and always take the time to ask about recurring problems or whether there are any new issues since the last visit and are able to offer many on site solutions for regular or one off aches and pains. Exercise, because it can be difficult and tiring for people with muscle disease, can be neglected, so attending the centre ensures some regular exercise is taken. It has also connected my father and I to others with muscle disease and although we all have different conditions and the severity of the conditions treated by the centre varies, we share similar physical issues, so understand what the others are going through..
Dad and I both know our condition is progressive, however, the rate at which this is occuring is hard to gauge - it's looking back over time that the changes become clear rather than day to day. 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.