Geode,

Well, you've been through the doctor mill.

This is what came to mind right away.

http://www.agsdus.org/html/whatisgly...gedisease.html

My second thought was this:

http://www.mattasons.com/congenital-...report/336077/

Or one of these:

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

Look at the Congenital Myasthenic Syndromes like Familial Limb-Girdle with Tubular Aggregates.

I have questions! Have you had an overnight oximetry done? I know you've had the sleep study but has anyone had standing orders for when you feel bad? What about a muscle biopsy? A Single Fiber EMG?

Besides a video, have you taken photos of your face? It might be a good idea to check for any changes such as ptosis.

Have you seen a neuro-ophthalmologist? You need to because your eyelids are drooping when you say you are "normal."

Have you seen a pulmonologist?

Does anyone else in your family have similar issues?

Two things that were a little revealing from your video are that you get worse after botox wears off and after coffee. Caffeine is a cholinesterase inhibitor (like Mestinon) and may make a sodium channel disorder worse. It's complicated but it makes me wonder more about the CMS's. Yes, you get worse after eating which may be the biggest clue. That's why I was wondering about either glycogen storage or a CMS that may affect glucose metabolism.

Mrs. D., this looks far more metabolic than "simple" diabetes, in my opinion.

PLEASE be careful about botox. Botulism toxin creates a temporary MG.

Have you tried drinking a LITTLE bit of tonic water? Why? It has quinine in it and may relieve symptoms if you have too much acetylcholine, which those with a slow channel syndrome do. Again, I'm not recommending this! I don't want you to get worse.

What is your blood pressure? Have you taken it lying down and then sitting up after a minute? Pulse too?

Did they check for any autonomic issues at Mayo?

Have they done a metabolic panel while you are in a spasm?

Have they done a serum acetylcholine level?!!!!

Do you ever lose your voice? Have trouble swallowing? Breathing?

Well, obviously the doctors are missing something.

On a side note, have you ever been tested for celiac disease? Have you had your B12 tested? Mayo often does that routinely. Do you have ALL of your medical records? If not, get them. You'd be surprised at what patients are not told.

We're here if you need us. You obviously have a serious issue. I'm not a doctor so I'm just guessing. I really hope you can get this figured out soon so that you can live a better life!!!

Annie

In case you guys want to see Geode's symptoms.

http://www.youtube.com/user/PocketOo.../2/R2tuj4ahzzw