What is Pompe Disease?

Now that I have been diagnosed with Pompe Disease a lot people have been asking what it is. Sure you can surf the internet and try to figure it out, but there really is not a whole lot of information out there and what is out there can be confusing or contradictory. I’m still trying to figure it out myself. Pompe Disease falls under the large umbrella of Muscular Dystrophy meaning that, well in the most broadest terms it weakens the muscles.

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.

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One comment

  1. It sounds like you are finally getting some answers you needed. Good for you! We have been thinking of you a lot and wish you all the best in your journey. We will continue to check in and read about your progress.

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