What form of CNM/MTM do you have?
When did you get diagnosed?
1985 / 1986.
What symptoms prompted your diagnosis?
General muscle weakness. I had just won a golf competition and could not carry my golf clubs, golf bag and a large rotisserie that I had won up the flight of stairs to get to my flat. I also had trouble running more than five kilometres.
How long did it take to get you diagnosis?
It only took a week or two to get the biopsy results back. This was after two visits to the physician in preparation for the biopsy.
How were you diagnosed?
Muscle biopsy – a muscle sample was taken from the calf and the thigh of my left leg.
What impact did the diagnosis have on you?
At first it was met with denial. I then realised that this condition was what was bothering my father, who was at this time still undiagnosed. I then arranged for him to be diagnosed and my suspicions were confirmed. At this stage my father, who was some 24 years older than I was, was still working and reasonably mobile, so the ultimate effect of the condition seemed to me, obviously still in denial, to be not too horrendous.
My wife and I went for genetic counselling and the counsellor, possibly never having come across this particular condition, seemed to confirm that our future was not too dark. I was still quite active with work and sport and we settled into, what on reflection can only be called, an uneasy ‘wait and see’ attitude.
Have you explained CNM/MTM to family members and what was their reaction?
Yes, we have explained the condition and the implications / ramifications of it – we have always been very open about the condition with both of our four children. I have also at various times been active on the local committee of the Muscular Dystrophy Foundation so the children were always well aware of the condition. My son and daughter’s initial reaction was also a wait and see attitude. They are both fairly healthy and active and resolved to be tested if and when any symptoms presented.
What implications do you think it has it had on your family?
The true implications are of course very difficult to pin down. I do not feel at liberty to speak for the rest of the family, but I, personally regret many lost opportunities for the family to enjoy the normal active life of a well balanced family. We have had to do without the simple and bonding, pleasures of running on the beach, walking the dog, camping, fishing in the sea etc. I do not know what effect this will ultimately have on the family unit.
Has it affected you as a parent e.g. telling your children, starting a family, genetic counseling?
Not that I know of. Being a parent to me means that one must always be open and honest with your family.
Do you have advice for people who are looking for a diagnosis?
Yes, do it immediately. It is always best to know the truth, even if the truth seems awful now. Armed with knowledge, one can plan ahead and confidently build a life around the new reality.
What are your current symptoms?
Current symptoms experienced are severe muscle weakness and water retention in both legs below the knee. The muscle weakness makes getting around rather difficult. I also need help getting my wheelchair in and out of the car, but I still, I try to be as active as possible.
Cold seems to affect me quite severely, reducing my mobility. I need to keep as warm as possible at all times, which is not always easy, even in our mild winters here in Durban.
What treatment are you having and have you had?
I have never had any prescribed treatment for CNM. There is no treatment available as far as I know. I have been for physio on occasion. This helps to correct any imbalance in muscle strength and helps to keep the feet in line with the rest of the leg. I do take water tablets about twice a week, in an attempt to reduce the swelling in my legs. Their effect is limited though. Lying on my back with my legs propped up against the wall is more effective, if a lot slower. I find sport to be the best exercise though. I play lawn bowls from my wheelchair once or twice a week. The tough competition and exercise is beneficial.
How did you find a doctor?
My general practitioner referred me to a physician who specialised in neuromuscular conditions.
What has been your experience of the healthcare system and healthcare professionals?
At the time of my diagnosis the health care system in South Africa was very well managed and staffed with true professionals. Even today, I know a number of doctors and researchers involved in muscular dystrophy research and find them to be very professional in their approach.
Has your diagnosis had any health insurance implications for you?
No, none at all. There is no treatment for my condition and I have only very rarely made claims on my health insurance.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
I can only speak for someone diagnosed with autosomal dominant CNM. My advice to them would simply be; ‘Don’t ever give up’. Walk whenever it is possible and safe to do so. Use your wheelchair on every other occasion but get up and walk as soon as you can thereafter. Keep as active as you possibly can, keep your interests up and get involved wherever possible.
What is your favourite book or film or music?
I prefer more active hobbies – I read extensively on any matter of interest at the time, mostly books on how to improve my skills in my favourite hobbies.
I took up sketching and painting some years ago. Sketching is a fantastic exercise for the brain. Anything can be sketched on paper with a soft pencil, your mother, the cat, the couch, the lamp shade, the park outside, the clouds, etc, and your sketch is never complete or perfect, it can always be improved or made more attractive; then when you have finished it, paint it with water colours, acrylics or whatever. Again it will never be perfect, but after a few tries it may be good enough to sell, then you will have some pocket money.
There are 1001 other hobbies that one can try, master or discard. Lovely things that can be made. It’s wonderful! I am also a member of the local writers’ circle and poetry society. I am not good at either but I enjoy both and who knows? I may get there one day. I go to the movies when a film catches my interest; Avatar in 3D was the latest. Wheelchair seating must be available though. Background music is good and therapeutic. Hobbies help to keep your mind and body active. Never sit in front of the TV all day, rather do something constructive and fulfilling.
What did you want to be when you were younger?
The plastic industry was in its infancy when I graduated from school, but was vibrant and full of promise, so I studied Chemical Technology, majoring in plastics and spent my full working life in various sectors of the industry: sales, manufacture and research.
What is a favourite/memorable event from your childhood?
Exploring and climbing the flat topped mountain behind the mine where I grew up – I was still strong then.
Who do you think has most influenced you in your life and why?
My father and grandfather. They were both true gentlemen. My grandfather was a farmer in his younger days and was always busy growing something. My father also suffered from CNM and although he could not get around very much, he was always there for me and taught me a lot about life.
What is the best advice you’ve been given?
My grandfather always used to say ‘First understand yourself, your failings, limitations and capabilities. Then view others in that light and you will better understand their hopes, fears and ambitions’. In this way it is much easier to get along with those around you.
My advice to fellow sufferers would be to maintain a lively interest in everything. The world is full of wonder.