nemsmom

My doctor is now testing me for Pompe Disease.

I'm wondering if any of you have heard of it or maybe have it, obviously this would be the late onset as I am 24.

But I don't think my symptoms match. Everything I have read says that it is progressive not relapsing.

I have spells where I am so weak I can't move or talk and it feels very difficult to breath. I have been tested for Myastenia Gravis along with many other things. They have also suspected Periodic Paralysis along with many other things.

I guess the reason I'm asking is that I'm wondering if the doctors could be right in looking into this, or if they are just taking a shot in the dark now that it has been five years of looking and they still don't know.

Thank you for any input. I am going to do the blood test as soon as my kids get better and I can leave the house without worrying about spreading their sickness to anyone else. But I do appreciate any advice anyone can share.

Thanks again.

Kristie

Allan Muir

Kristie,
Have you contacted the AMDA or the UPF about Pompe disease, they are both charities in the US that support families.

The International Pompe Association has a collection of brochures that you may like to browse through online; the Pompe Connections are found under Publications at:
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Good luck

Allan