As you train for your chosen event and eat well, storing fuel in your body as glycogen, give a little thought to those children and adults who have considerable fuel stores in their liver and muscle, and yet such exercise would be painful, damaging or even life-threatening.
Each of the known glycogen storage diseases (GSDs) gives rise to symptoms ranging from mild exercise intolerance through to premature heart, liver or kidney failure. The diseases are mostly controlled through strict diet or careful exercise – a young girl with GSD must eat twice her weight in cornflour each year. Only one GSD, Pompe Disease, has an approved medicine to slow the disease progression; without it infants die before their first birthday and older children deteriorate until their muscles cease to support their bodies and they become too weak even to breathe.
Often, but not always, GSDs will be diagnosed in childhood; early diagnosis is essential to allow symptoms to be treated and to protect the body from further destructive effects of the disorder. For example, taking slow-release starch to control blood-sugar levels and protect the brain from severe hypoglycaemic seizures and possible brain damage.
So you can see that there is a real need for charities like the AGSD-UK to support people living with these ultra-rare conditions, to raise awareness and to fight for early diagnosis and improved treatments. The work of the AGSD-UK is funded through the generous donations of our members and supporters. We can assure you that any donation you are able to make will help us provide support to families in the future.
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