Undiagnosed -A recipe for humiliation and feelings of inadequacy

For as long as I can remember, and even before, I have lived with muscle pain that has sporadically led to a feeling of humiliation and inadequacy,with that humiliation sometimes painfully public. While with the disease more widely recognised several hospital visits and numerous tests, some invasive and potentially dangerous could have been avoided. But more of that later......

My research on the internet, and membership of a great on-line community, has quickly revealed the condition to be rarely diagnosed, but whether it is in fact rare is unclear.

Accordingly my blog is designed to draw attention to the condition in the hope that other sufferers may be more speedily diagnosed in future and saved the humiliation I have often felt, while I will try and keep up to date with my progress on the regime I have been given by it Dr Alf Slonim, a great and devoted doctor who has helped many with this and other diseases.

My parents have often told me how even at an early age I hated walking and after a short distance would complain my legs ached. As an adult I used to find any excuse to avoid walking with colleagues even a short distance, while I have an aversion to hills bordering on pathological.
I could not begin to count the number of times I have stopped to needlessly retie a shoe lace or in recent times to get cash I didn't need from the ATM at the top of the Bank tube station walkway.

All because my body lacks an enzyme to enable the breakdown of glycogen stored in my muscles. A short rest and I can walk on as the energy supply from my blood kicks in and allows the muscles to function without cramping up, but by then friends and colleagues are yards away looking back thinking who knows quite what.

At school I remember swimming to have been a particular challenge, while I could swim quite well underwater on top I would quickly have to give up as muscles cramped up and I ground to a halt. A junior school house lengths is my first recollection of humiliation in public. I managed to complete my length but not before those on life guard duty came to the side of the pool to pay particular attention to the poor weakling who seemed in peril and who was delaying proceedings with what must have been one of the slowest lengths in school history.

My parents tried, as good parents would, to build my strength, cod liver oil and malt, the smell of which to this day makes me nauseous was the first and most oft used remedy. Their worst attempt though was the present of a Charles Atlas Bullworker one Christmas, which simply served to emphasise my inadequacy. A few attempts to use it resulted in rapid failure, while friends were all too adept. It very quickly was consigned to the very back of the toy cupboard. I don't recall what I really wanted that year but I do know Charles Atlas was not it!!

At school my attempts at most sports were not good, despite my love of most ball games and a degree of aptitude. Running has quite simply always been a problem and hence though I love football the first five minutes would always be agony, and anyone watching would quickly deduce I was hopeless.Rugby and hockey presented similar problems. The days that followed games over many years, and to this day, would also see me wander around with a degree of stiffness most people would associate with far more demanding excercise. Athletics was simply a search for the least worst option, the400 metres was to be avoided by any means, and so the shot putt or the javelin became my pursuit of choice, very short, and in my case very minimal exertion followed by plenty of sitting and waiting for the next pitiful attempt.

My house master at Bristol Grammar school noted in one report that the onset of the cricket season had brought with it a huge increase in self confidence and an increased respect from peers. Cricket has always been my sport and I was able to represent Bristol Grammar school and The City University and played to a reasonable standard. A reflex catch at short leg takes little exertion, and I took a number. Running between the wickets can with skill be controlled by appropriate calling, except of course in very tight situations. In one such, as a junior player at Flax Bourton CC I recall attempting a third run and coming to a grinding, inexplicable halt mid pitch. Dismissed run out I walked back to the pavilion close to tears unable to explain what had happened or why. Now 30 years on I finally have the answer. I have continued to love the game passionately and have achieved some success, though disaster has it seems been only several consecutive two's or god forbid an all run four away.

In the last two seasons I have taken to eating a banana before each innings and my general play seems to have improved, but I know I have got out on many occasions over the years through worrying about how I would be able to run the next single, rather than focussing totally on the ball.

Sufferers of the disease get a second wind after the energy supplied by the blood kicks in and personal examples of this are many. Some 20 years ago close friends who love mountain biking had organised a weekend away for a group of university friends, on the South Downs, while anxious prior to the weekend I did not want to miss a close friends birthday celebration and so made the drive down and stood early one Saturday morning bike at the ready to face the day ahead. As fate would have it we quickly faced a long uphill stretch and within minutes the familiar cramping of leg, arm and chest muscles began. Mercifully just as I was about to stop and head home the chain came off another participants bike and we all stopped, much to my relief. The short rest enabled me to carry on barely troubled for the rest of the day.

Hills in truth have always been an issue even a relatively modest incline. The walk to my father's car after our regular visits to Ashton Gate (home of Bristol City F C), became something I dreaded as a child. We used to park a short walk from the ground but critically for me this was at the end of a long incline. Each visit I left the ground hoping this time I would make it back to the car without stopping, but each time I failed as leg and then arm and chest muscles would cramp up at roughly the same spot . My father never lost patience although he encouraged me to try and walk on. In truth this is something a McArdle's sufferers should never do as it can cause muscle damage. But how were we to know. Mum had taken me to see doctors but in the 70's the disease was unheard of .

I recall a visit to the football club with my father for circuit training. By chance the then manager was in the changing room and dad asked for his analysis, which was broadly work harder and weakness brought on by laziness will be overcome. So I embarked on an effort to strengthen my body convinced I was simply too lazy, but as with many attempts since success did not follow.

At the age of 23 I moved courtesy of Midland Bank to Hong Kong and enjoyed a fantastic 18 month spell there, where I experienced my first McArdle's enduced hospital stay. A friend suggested I join a local gym and so I headed for Tom Turk's convinced maybe this time I could get fit. The trainer put me through a series of exercises, including some sit ups and a number of some back exercises. A pre-arranged game of squash followed and by the time I got home I was already in some pain. I was shocked on visiting the bathroom to see my urine stained red by what I presumed to be blood and when I could not move the next morning I was taken to hospital, where I spent several days. In 1986 there were only very few cases of McArdle's worldwide and hence it is no surprise my doctor looked elsewhere for a diagnosis. A cystoscopy and a renal biopsy( a procedure I only learnt later in life to be dangerous) were ordered and undertaken but revealed nothing. Needless to say I did not return to Tom Turk's and until my diagnosis always thought that they had simply pushed me too hard and that I was too weak.

On several occasions since I have experienced a particular muscle tightness, which I have learnt can precede dark red/brown urine, and twice I have been hospitalised, both after cricket and an injudicious (for me) attempt at an extra run. On each occasion my blood has been tested and my kidneys examined but on neither was the possibility of McArdle's considered. Though I remember being convinced this was somehow a muscular problem - but how could it have been?

Over the years I have often wondered whether my weakness could have a cause other than laziness, while bouts of fatigue have been explained by post viral syndrome.