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 our biopsies were compared 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 the thing that makes it crystal clear to others that we have a problem. 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 look like I should be able to manage stairs, so this can result in me feeling uncomfortable around others when using stairs or having people tell me I am lazy because I am taking the lift when they know nothing about my condition.
For the most part the things we find difficult are things that most people take for granted - carrying heavy items, opening bottles, turning a key in a lock and although this may not sound like much, nobody likes to ask for help or admit they can't do something and not being able to do simple things, means you can either find yourself asking for help a lot or avoiding situations because you don't want to ask for help or be a burden or make a fool of yourself.
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, 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 because our balance is poor - dad has a hand rail on either side of his stairs at home but at present I am resisting doing this as I don't want to get so I rely on something I know I can't have away from my 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. 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. When I was told by a tutor that my writing had a strong academic voice, I was overjoyed.
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. I experience some pain in my lower back and my left leg, which is brought on when standing for any length of time or from generally over doing things and I often feel like I am permanently tired, which I am told is muscle fatigue and can make going out and socialising difficult. 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 December 1999 when he retired because of ill health. Now he has uses a walking stick when out and about and has a tendency to fall also.
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 because my muscles are simply not strong enough and therefore totally resisted this traditionally prescribed type of physio treatment.
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. We are fortunate in that we live a half hour drive from the centre, which is currently the only 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 a number of '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, we each understand what the others are going through, as we share similar physical problems.
Today, I do not feel so much different than before my diagnosis but dad and I both know our condition is progressing. The rate at which this is occuring is hard to gauge and although we share similar symptoms, the age at which we developed these and the way in which we are progressing is different.
Strangely though getting a diagnosis did have a positive aspect because I learned there was a reason behind why I had struggled with so much throughout my life and so was able to give myself permission to stop beating myself up so badly.
Although I have concentrated on the symptoms of our condition and the things we can't do, we actually lead very normal lives. Dad has now started to use a stick to get around but 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.
