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Annie....I hope you don't mind my "hijacking" your post. I saw a post you made earlier this year, and wanted to get in touch with you. We are in the process of diagnosing my son (15). It has been long and very very slow. In a prior post this year, someone was discussing limb-girdle, and you mentioned CMS and testing for it.
My son has had a positive EMG during RNS. Acetylcholine was negative. We're waiting for MuSK results, and they are also checking Carnitine and Acetylcarnitine. In the meantime, Neuro (who does not communicate much or well) referred us to UC Davis. The other option we're looking at is trying to get him to into Mayo. Both of these were the options you mentioned in your earlier post in reference to CMS. You seem to be very knowledgeable/experienced and I am grasping at straws trying to help my son. Any advice?
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I thought I'd start a new post for you because it may get lost in another post. There are people here who can probably help you.
First of all, welcome to the forum. Do you want to be called sdmama or something else?
Getting diagnosed with an "odd" illness can take awhile. If your son has a CMS, it can take longer. Has he had symptoms since he was younger? What are his symptoms? Is he really weak? Have they even tried Mestinon?
I have no experience with UC Davis, at least not directly. If you live closer to the Mayo Clinic, that might be a better option (the Rochester, MN location). I'll be blunt . . . they probably treat children better there than they do us adults.
You have to prepare well before going there, like what hotels to stay at, which ones have a shuttle to Mayo, etc. Rochester is an easy city to get around in, so that helps.
Does your son have shortness of breath? Have you taken him to a pulmonologist for breathing tests if he does?
So please tell us what else we can help with, okay? I know it's hard to watch a child go through something like this but you do want to get the diagnosis right. An EMG in this case is not "proof" enough. They may also want to do a muscle biopsy, so prepare for that thought! I'm sorry your son and you are going through this. It's not fun but these diseases can be manageable.
Annie