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 two years old before I learnt to walk. I think everyone just thought I was lazy – 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 caliper.
Aged 18 I saw a doctor believing I had problems with my back, which turned out to be lordosis. He wanted to cut both my ankles open and lengthen the heel cords, a procedure that I now 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, that wasn’t a cause for concern but shortly afterwards, dad began to experience his own problems. He underwent a muscle biopsy, with a muscle sample being 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 requested a muscle biopsy also. I was told it was unlikely to provide any information but it was agreed to carry one out all the same. A muscle sample was taken from my upper left arm and the biopsy result showed all the classical features of centronuclear myopathy. When my biopsy was compared with my dads it could be seen they showed similar features. Today a keloid scar still marks the spot from where the muscle was taken.
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 proven by the 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, 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*, which I found devastating, as I always thought I would have children.
Dad and I share symptoms in that while we are both ambulatory, we do not walk comfortably. Stairs can be particularly hard work and neither of us are able to use stairs without a handrail. Dad has a handrail on either side of the stairs at his house and when I visit, I find using the stairs there much easier but I have always resisted getting a second handrail at my home as I don’t want to get so I rely on something I know I can’t have in the outside world. 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 as if I should be able to manage stairs, so this can cause me problems with people who don’t know about my condition.
A stair rail is essential for me when going both up and down stairs – I use it to drag myself up stairs and for support on my way down, as my joints have a tendency to give way on me. Going upstairs I am okay providing I don’t I lose momentum but if I do, I can find myself stranded midway, unable to get the momentum back and when this happens I end up going up a step at a time and dragging myself up the final steps. Should I need to carry something upstairs, I have developed a technique, where I put the item a few steps in front of me and move it upstairs, a few steps at a time.
My voice is weak and people struggle to hear what I say – I find it incredibly frustrating as I do not feel it represents who I am. When I was once told by a tutor that my writing had a strong academic voice I was overjoyed. And constantly I am buying things, then realising, they are ‘Toni proof’. I find tiny movements like turning a key in a lock or opening a jar or bottle tricky. My grip is poor, particularly in my right hand due to muscle wasting and shrinkage of the tendons in my hands and wrists and 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 easily without support, which can be embarrassing if for example we fall outside, where there is nothing to pull ourselves up with.
I have been 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 both of my heels flat on the floor without bending in two at my waist. I compensate for this by standing with one foot flat and one foot slightly bent to get my balance and then it appears as if I am standing upright but this is getting more difficult and painful to do and I find myself bouncing all over the place unless I have something to hold onto or lean into. It is also incredibly tiring and I can literally feel the energy draining out of my body whenever I have to stand unsupported for any length of time. I have found that wearing a shoe with a block heel helps immensely with standing but I find them difficult to walk in. I have also developed techniques to manage and disguise things, such as navigating my way around a room using chairs, tables, filing cabinets, walls and work surfaces. However, I have found that disguising my condition has a downside too and being able to manage as I do, has caused problems with people who don’t understand just how much work goes into and making it appear like everything is fine.
I have always had problems with walking long distances and 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 now have a walking stick – it folds up, 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 if I don’t need it. I don’t use it a lot but it is a step towards finally admitting I have a problem and trying to be more open with the world about this, which I have always found difficult.
Muscle fatigue is a huge problem and I feel like I am permanently tired, a symptom that the outside world is unable to see but of which I am constantly aware. I find the best way of dealing with this is planning and organisation, knowing what I need to do ahead of time and pacing myself. Also not beating myself up if I am having a bad day and allowing myself time to recover if I have been busy (or if I am just feeling shocking). I don’t think that having this diagnosis is supposed to be a walk in the park and my life is so much better than it might have been with another form of the condition or another type of muscular dystrophy but it still comes with many challenges, so I constantly have to remind myself, that however it may look to others, I have a progressive muscle disease and it is okay if there are days when I don’t feel so great or times when I need help. In January 2015 I took the decision to reduce my hours at work – I had worked full time since the age of 16 but it had begun to feel that I was existing rather than living, so I dropped down to four days a week. Then in 2018, I took a decision to leave the job I had been in for 13 years, due to be incredibly happy and feeling that I needed a change. Shortly afterwards I took a job working two days a week.
Despite dad and I having the same condition, our stories are not following the same path. Dad really didn’t begin to show symptoms until in his early 50’s and he worked full time until 1999, when he retired on ill health. Dad has used a walking stick for many years now and now has a scooter and a wheelchair for when he is out and about. He prefers to try and walk but it is clearly difficult for him. He suffers from muscle fatigue 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 regularly prescribed type of physio treatment.
Dad and I both now attend for physio at the Neuromuscular Centre (NMC) in Winsford. Attending for physio at the NMC is a different matter entirely. Our treatment is designed for us and rather than trying to make our bodies work normally or trying to cure us, the focus is on maintaining the movement and flexibility that we currently have for as long as possible. Dad attends for physiotherapy and for a long time attended for hydrotherapy treatment in their heated pool once a week too. The use of the pool meant he was able to exercise more strenuously than he would otherwise. Currently he has physiotheraphy, has acupuncture treatment when experiencing pain and uses the NMC gym. 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. Occasionally I go in the NMC gym too.
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, 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 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 the patients have different conditions and these are many and varied, we share similar issues and understand what each other are going through – I can for example talk about how I am struggling with my balance in bad weather conditions, such as ice, snow or high wind, knowing that people will understand the difficulties and not think I am being a drama queen. In 2016 we took part in a a fundraising event for the centre – you can read more about the centre and the challenge below.
Dad and I both know our condition is progressive, however, the rate at which this is occurring 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 we can to raise awareness, help with research and living each day to the best of our abilities.
* 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 diagnosis, 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.
Toni is the founder of The Information Point for Centronuclear Myopathy established in 2001 and The Big Sunflower Project which has raised awareness of centronuclear and myotubular myopathy since 2011 by growing sunflowers.
To learn more visit The Information Point and The Big Sunflower Project websites.