Frank lives in South Africa and is diagnosed with autosomal dominant centronuclear mypathy.
I recently had occasion to re-read an article that I submitted to the Information Point some six years ago. I was shocked to realise just how much I have deteriorated over that time.
For a start, I was playing bowls on a regular basis and winning medals in 2010 and thoroughly enjoying the competition and companionship. Then one winter about four years ago, I started having trouble reaching the jack. The grass was short and smooth in winter but my muscles and fingers were cold, the ball constantly slipped from my grip and hence the poor delivery. I hoped that things would improve in summer, but alas, the spring rains only helped the grass to grow faster and the greens to get heavier. After much struggle I had to concede defeat and give up the game. My last day at the club was sad indeed; but this was not the first time I had had to stop playing a sport that I loved. The same fate befell my love affair with golf way back in 1995 and squash many years before that.
I try not to fret about these losses, I just get all philosophical about them and simply move on to the next exciting project, or hobby. I have learned that it is important to have a back-up plan.
There have been many losses but I have also received good news during those six years. Both my children, at first adopted a wait and see attitude towards my, and their conditions. Then my son, at the age of 26, who was working in the UK at that time, decided to have himself tested. The good doctors at Guy’s Hospital, London informed him that if they could isolate the offending gene in a known sufferer, then it would be a simple matter to check for that specific abnormality on his DNA.
I quickly got my doctor in South Africa to draw a blood sample from myself, but finding a courier to ship blood to the UK was no easy task. It seems there are numerous laws associated with moving blood around the world. I eventually got to grips with the system and a month or two later got confirmation of my biopsy diagnosis. My problem lay in the DNM2 gene. It is somehow very satisfying to get confirmation of what you already know is wrong with you, even if it is bad news. A short while later we got the good news that my son was not affected. We then had my daughter tested with the same positive result.
There was a 50% chance of passing the affected gene on to one of my children, but that does not mean that every second child must be affected. We were lucky to beat the odds. Very lucky. Being a dominant gene this scourge has now left our family forever. Why it struck us in the first place, we may never know.
I was still walking quite strongly in 2010, although I did need a stick for support. As time passed I was forced to buy a walking frame, which I quickly became dependant on for everyday use. It’s mainly used indoors on flat surfaces now. I find it safer to use the wheelchair if I want to venture out into the garden.
I recently bought a stand-up power chair, which means that I don’t need outside assistance to get myself upright any more. This is a boon for me and my helper and I would recommend it for anyone that can afford it.
My current symptoms are Oedema in the lower legs. Every day I wear elasticized stockings, open toe to just below the knee and also take diuretic tablets every morning. I generally lie on my bed for roughly two hours and read, whilst the de-watering process takes place. Being retired gives me the luxury to do this. Sometimes I am also forced to de-water in the afternoon, especially when it is hot.
I have had stomach problems for a long time now. I cannot really say it is getting worse, the symptoms just seem to change over time. Currently the symptoms are ill defined and the doctors say there is nothing wrong with me, but my stomach does get quite bloated, it also feels tight, almost as though it is preventing me from standing up straight. I think de-watering twice a day helps. I also suffer from reflux and find that I cannot eat much food at one sitting any more. A strong antacid helps for the reflux.
My voice is also getting weaker. I sometimes almost lose it completely, especially when I need to speak loudly in a crowd or when I am stressed. Beer, cider, coke, sports drinks and many other commercial drinks seem to have a lot of acid in them which negatively affects my voice.
I seem to have trouble focusing both eyes for an extended period of time. I still read well, with my glasses on but then one eye gets lazy and drifts out of focus and I end up reading with one eye only. Very strange.
I was diagnosed with type 2 Diabetes, mid 2016. They say lack of exercise is a contributing factor to diabetes and I certainly don’t get a lot of exercise, so maybe the CNM did contribute to this condition. I control it by taking prescribed pills morning and night.
I have also recently started having trouble breathing, which has never happened before. The symptoms only seem to occur on warm nights whilst I am lying down. Mostly when the temperature is above 24 degrees Celsius (75 deg. F) and the humidity is high. It has only happened a few times now but I am sure that, like every other symptom, it will get steadily worse over time. The actual condition is hard to describe. It feels as if my chest tightens up; then I either cannot draw enough oxygen in, or I cannot expel enough carbon dioxide from my lungs. Either way, I find it very disturbing and would appreciate any guidance that I can get on this subject.
Other than the problems noted above, I am still perfectly healthy. By saying this, I mean that I do not feel sickly, my spirits are high and I have enough energy to keep active. I still drive my car, now fitted with full hand controls. I still paint, write and socialise with my friends on a regular basis. In short, life is being good to me at present, for which I am eternally grateful.