Xanadu, What that means is that you have a gene variant that hasn't been documented yet. Duh. A genetic mutation is a genetic mutation. Researchers have not found all of the mutations of CMS yet. There are over 100 so far. There are bound to be a LOT more.

What would be a wise thing to do is to send your little mutation off to UC-Davis (California) or the Mayo Clinic in Rochester, MN for further evaluation. They may know something which the "lab" your blood was sent to does not. And because of your case history, and that of your family, maybe a new "Xanadu" mutation will be discovered!

Seriously, just because it was not definitive does not mean there's nothing wrong. A negative test proves nothing. And you didn't really have a completely negative test. It did show a mutation in the gene. This is new field of study (relatively). Dr. Engel of Mayo (Rochester) was one of the pioneers of these discoveries. He is not seeing new patients but is still doing research.

Every time I hit my arm on a doorway, I get a bruise. Coincidence? Nope. When I got hives after eating peanuts and they went away after taking Benadryl, was that a coincidence? Nope. Cause and effect are often not "proven" with tests but experience. It seems to me that if the Albuterol works, then something is being made better. I'm really sorry no one will take this seriously and give you Mestinon. That's really silly. Can they do the Tensilon test there? And video tape it so there is PROOF?

I think sending a letter and sample off to Dr. Andrew Engel at Mayo is a fabulous idea.

http://mayoresearch.mayo.edu/staff/engel_ag.cfm

Very interesting. I hope you continue to feel okay.

Annie