15-17 June 2017.
Walking with McArdle's course,
2-9 August 2017.
AGSD-UK Annual Conference,
28-29 October 2017.
People with McArdle Disease have to cope with an average delay of approx. 25 years from onset of symptoms to diagnosis. During this time they outwardly look normal and they can't explain why their exercise tolerance is so different to that of their peers. The psychological turmoil is considerable. Some people struggle with this whilst others seem to find their way quite well, supported by empathetic family and friends.
The aim of this page is to provide an understanding of the issues involved, drawn from interviews with many people with McArdle Disease. By recognising these issues - parents, families, schools and health care providers will be better equipped to support people with the condition.
The AGSD-UK is working towards a lower age of diagnosis and the provision of good information and support to help people avoid many of these issues, or at least cope with the pressures.
With the right guidance, most people with McArdle Disease can learn to cope with their condition, learn to focus on what they CAN do rather than what they can't do and overcome these psychological issues.
From early childhood you know there is something wrong, but you don't understand exactly what or why. It usually starts with realising that your legs quickly get heavy and seem to seize up. Having only one body, there is nothing to compare to and you assume this is what everyone experiences. But you find you can’t keep up with friends and siblings. Why are you so useless that you just can’t keep running when everyone else does. You wonder what is wrong with you. You begin to think that you are pathetic and inferior. Maybe you talk to your parents, but it probably isn't taken seriously at that age.
As you start to play games in the school playground you realise that you are no good at games like tag. You don't at first understand why and are confused. When you start team games you find that you are not picked from the line by team captains and are soon labeled as useless and unwanted. You are embarrassed at being left last to be picked or not picked at all, even by your best friends, and have to stand on the sidelines. (Quote “I’d be over the moon on the rare occasions that I was picked second to last.”) Yet you know in yourself that you try as hard as everyone else.
Maybe by age about 7 to 10 your parents take you to the doctor to find out what is wrong with your legs. The doctor says there is nothing wrong with you. That any pain is “growing pains” and can be ignored. Having been told this is what everyone experiences you know it is just you being pathetic, so you try harder. You try running against the pain and collapse in the playground. Everyone gathers around and jeers. You are labeled with a nick name like “Spazzer”. You are totally frustrated with such poor performance despite all your efforts.
Your mates are playing football, rugby, cricket, etc. Cricket is good because there are lots of pauses, but you have to learn to avoid runs too close together. After a two-run your next shot has to be a defensive one no matter the ball. If your partner hits a good one and you have to do more than two runs you conk out on the third run and stagger to the crease as you are got out. You can hardly move to get off the field. Any team games become a nightmare that you want to avoid, but you want to be with your friends. What is wrong with you? Why can’t you do what they do?
You can’t discuss these problems with anyone because nobody understands. They think you are useless or lazy. You know you are not. The doctor examines you again and says there is nothing wrong with you. People say it is all in your mind. Maybe it is?
You decide it must just be that you need to get fitter. You push yourself as hard as you can. It doesn’t seem to get any better. Several times you collapse with your muscles seized up solid. Your parents realise this really is not normal and take you back to the doctor. He reluctantly refers you to the hospital. They examine you and confirm that there is nothing wrong with you. Maybe you just sprained a muscle? You need to get fit.
All you know is that there is something different about you. You know you are physically inferior to your friends. You can’t do what they do, you can’t keep up with them. You start to realise that they are better than you, even though you look perfectly OK physically. But you are a weakling, the runt of the litter.
If you have managed to play sport, it gets harder as you get into senior leagues. You have several bad episodes, maybe even visits to hospital. You have to drop out of the sports you love. You start to drift apart from your friends as they go off on matches and training sessions. You realise it is probably better that way, they don’t want you around. They are going off to the gym and building their physiques. The last time you tried some weight lifting in the gym you ended up in hospital for a week. Best to leave it to them.
You get used to having to make excuses. It is embarrassing to have to stop when walking with others – perhaps school or work colleagues who know nothing of your problems. You rely on all sorts of excuses, tying shoelaces, taking a sudden interest in shop windows, sending an “urgent” text. Anything to avoid having to admit that your heart is racing and your legs feel like lead weights. It is too embarrassing to cope with and you start avoiding situations which might show you up. You say "I'll meet you there", rather than risk walking with people. You set out that extra bit early, just to be on the safe side.
It is 20 years since you first went to your GP over these symptoms, and finally one of your emergency trips to hospital attracts the interest of a doctor. He is sure there must be something at the root of this, he orders a CK test and you get referred on to a specialist. After a batch more tests you get diagnosed with McArdle Disease. Wow, there really is something wrong. What a relief. You a not going crazy, you are not lazy, you are not unfit. Finally you can tell everyone that you really do have a medical condition. But the doctors say they can’t do anything about it.
You try asking for advice from your GP – he knows nothing about McArdle Disease. He says you just have to take it easy. You have never heard of anyone else with McArdle Disease, and nor has he. There is nobody to talk to about it. You still can’t share what it feels like. You can’t talk about it to anyone who understands. The relief of diagnosis suddenly turns to a life sentence with no prospect of parole. This is a genetic condition and you are lumbered with it for life.
You are left wondering what this diagnosis means. How bad is it? What does the future hold? Will you be seriously disabled? What if you have children? Whereas you had almost come to accept whatever it was that was wrong, now all you have are questions and worries – and nobody has the answers. You start perceiving yourself as disabled. You start to define yourself by the things that you can’t do, but the things that you will never do.
You try explaining McArdle Disease to a few friends. They have never heard of it. They look dumbfounded and don’t understand. After all, they can see there is nothing wrong with you. You aren’t in a wheelchair, you don’t use a walking stick, you don’t even have a limp. And you look really healthy. They think you are just using it as an excuse. You decide the best thing is not to tell people about your McArdle Disease, just keep it to yourself.
Now you know there really is something wrong, that it is physical not just all in your mind, you realise that you better be careful. You don’t want to end up back in hospital. You need to avoid certain activities. You ask your partner to take over various household tasks. After all, you are DISABLED.
Having a chronic condition is known to be a source of depression and depression can worsen the course of disease. Depression makes you lethargic and you can't face exercise. A lack of regular exercise lowers your aerobic capacity, so almost everything you do causes cramping and pain. Your endorphins are low, so you feel more depressed. You become trapped in this cycle.
At last you find a patient support group. For the first time in your life you meet other people with McArdle Disease - people who know what you deal with every day, who understand. You find your stories are remarkably similar. Then you learn about a doctor who specialises in McArdle Disease, who has in-depth experience with helping people with the condition, who can advise and guide you. It is such a change from all the previous doctors who passed on snippets of incorrect, fourth-hand information quickly gleaned from an out-of-date textbook. Suddenly you start to know how to handle this disease. You learn how to avoid hospital stays, reduce pain, have more energy, exercise safely and regularly. The more exercise you do the more you feel like doing. You feel so much better. Life is not so bad after all.
As this condition is inherited in an autosomal recessive pattern, it means that both parents are carriers (without symptoms) and the condition has unwittingly been passed on from both of them. The parents are bound to feel a sense of responsibility for their offspring’s condition. This is perhaps especially strong when the diagnosis is achieved at a young age. Consideration should be given to helping parents understand that there is no blame attaching to them and explaining how they can help their child achieve a good quality of life.
Last reviewed: 11 May 2012
Association for Glycogen Storage Disease (UK) LimitedRegistered Charity No 1132271