I’m quite happy every time someone takes interest in Pompe disease. It simply means that more people are aware of it now. The more people that are aware, the more chances that patients can be helped.
Bertalan Meskó is the owner and author of “Science Roll”. A personal blog chronicling his journey as a medical student. He’s focusing on genetics.
He posted “a great article”:http://scienceroll.com/2007/02/06/pompe-disease-a-rare-but-important-genetic-condition/ on Pompe disease that helps explain it in a little more understandable way for us laymen.
Here’s a quote from his post.
bq. Why do we have to talk about Pompe? The reason is diagnostic delay. The diagnosis often poses a dilemma due to the rarity of the disease, the variable rates of progression and the unspecific phenotypic features. What kind of disorders do we have to list as a part of the differential diagnosis?