Pompe Disease is also known as Acid Maltase Deficiency which is a Glycogen Storage Disease – confused yet? It is caused by a defective gene that results in a deficiency of an enzyme. Ok – my body can’t break down glycogen so it gets stored in the muscles which weakens them and causes all sorts of problems with mobility, breathing, the liver, and heart. Basically, as my doctor put it, “This is case where your DNA let you down.”
The disease is progressive and very rare. They estimate that only 5,000 – 10,000 people worldwide have Pompe Disease. I guess I am one of the luckier ones as it is much more aggressive in children than adults, but I am far from lucky. Pompe Disease is not curable. It is only treatable and currently it is only treatable if you can get into a clinical trial as the FDA has not approved the Enzyme Replacement Therapy for commercial use in adults. I am currently trying to get into a clinical trial and will keep you posted.