Mike, What Alice asked would've been my first question too.

You can't tell by looking if someone has cancer or other diseases. You can't do that with CMS either. There are genetic blood tests that they do, which I'm sure are what the many tubes of blood were for. Just like MG, you can have CMS and not test positive for the tests. They haven't discovered all of the mutations and you can see by the site below that there are currently over 100 of them. The other test they do, which I would NOT recommend, is a specialized muscle biopsy. It is basically surgery which has many risks involved due to where they take it from and how much they take.

So, what antibodies did this guy help to "discover?" You do know that CMS is a genetic disease and does not involve antibodies, right?

To me, real jerk = HUGE ego. If a doctor can't take you asking question, there's usually a reason for that and I doubt it's a good reason.

You need to know the truth, whatever that is.

If you have a CMS where you don't have enough acetylcholine, Mestinon is the main drug. 3,4 DAP is sometimes used but isn't always effective. Obviously, IVIG, steroids and any immuno drugs won't work. I know I've posted this a lot before, but it has the most comprehensive info on CMS.

http://neuromuscular.wustl.edu/synmg.html

I still wonder if something else might be making your situation worse. Have you seen an endocrinologist to make sure? So many internists are out of their realm when evaluating endo issues and people with AI's tend to have endo diseases.

Throw all of this your wife's way . . . I'm sure she's already thought of this anyway! Just make sure you get a "real" diagnosis and not a "It is so because I think so" one.


Annie