Mrs. D., I totally get the seriousness of that topic. I had reactive hypoglycemia for years due to undiagnosed achlorhydria that lead to a "dumping" syndrome. Not fun. I'm not dismissing your information at all! Neither should Geode.

What I was referring to was that the entirety of her symptoms screams something else. And keep in mind, Geode, that it may be more than one thing going on here. The very nature of fatigable weakness points to an acetylcholine issue, whether that is too much or not enough.

Geode, Botox basically paralyzes the muscle. It gets rid of the acetylcholine in the area so that the muscles are flaccid. No muscle expression = reduction of wrinkles! That's why I was wondering about the fact that you got worse off of botox.

I wish I could upload a PDF I have of CMS's. The Slow Channel mutation G153S has a familial variability and does indeed have myotonic type spasming. The variability within a family can be from mild to severe. There is something called R-CMAP or Repetitive compound muscle action potential which some sodium channel cases have on EMG. It's an extra little discharge that may not even be noticed by untrained eyes. In fact it might be dismissed by the person doing the test as a "mistake" that happened due to operator error!

I hope you read all of this info and really think about what is going on. I would HIGHLY suggest reading Stellatum's post about journaling and keeping a journal yourself. It's amazing how revealing that can be.

Annie

Google "congenital myasthenic syndrome Hantai" and you will find a variety of articles and PDF's.

Annie and Mrs. D, thank you very much for your input. Forgive me if this post is a repeat, but for several days I keep trying to reply and nothing shows up.

Mrs. D., my GTT was 4-hour, but sounds like I should get a copy of the results for my own review, and also ask about the fasting insulin test.

Annie, I am carefully and thoroughly exploring and digesting all the suggestions you gave. So many questions! Most of what you asked hasn't been done yet, will discuss with doc. Prescription quinine didn't help. B12 def. and celiac were ruled out. No trouble with swallowing or losing voice, but do get weakness in diaphragm. But O2 sats are ok regardless of how I feel. I no longer get Botox.

BP is usually 120/70, often have mild tachycardia. My PCP asked nurse do orthostatic BP test. Nurse freaked out a little, said I was orthostatic and HR jumping all over the place, but then doc just dismissed it as dehydration. (I could hear them arguing in the hall.) Been trying to drink lots of water, but no improvements.

Family: My mom's mother may have had similar issues; severe weakness episodes in her late 70's, which resolved with Zoloft and potassium. Age 89 she died in hospital, unable to move except to make a faint grunting noise and wiggle her big toe. She couldn't breathe on her own. We were told she had ARDS and wouldn't recover, but now I wonder if she was in a periodic paralysis attack or a myasthenic crisis. My mom is basically very healthy, but has little hints that could be suggestive, or could be coincidence. She also has Hashimoto's thyroiditis.

Geode, Yes, definitely get a copy of the GTT results! You should always get copies of test results.

Get the copy of the celiac and B12 test results too. Did they do the reticulin antibody (celiac)? I doubt it.

If they think you are dehydrated, they can test your urine and serum osmolality. That will give a very clear picture of your hydration status. No need to argue!

Do you have a BP cuff at home? If not, ask your primary doc to do this. Lie down for a couple minutes. Take your BP in both arms. If they are relatively the same, then take your BP in whichever arm after standing for 30 seconds. If one arm is higher (systolic/upper number), then take it in that arm. If the systolic number goes up 20 or more, chances are you are overhydrated. If it goes down 20 or more, you're probably dehydrated. It can happen for other reasons too though. And then look at what your pulse did upon rising. Did it go up 30 or more?

I'm sorry you have not had doctors roll up their sleeves to really figure this out. It's so obvious from your video that you have problems. Why they won't even consider one of the CMS's is beyond me. They can do some simple blood tests.

What is your ancestry? What countries were your ancestors from? There are some CMS's that are more common in particular countries.

It might be worthwhile to admit you. If you can find an open-minded doctor. They should run some basic tests before you eat and then right after and then an hour later, etc. It appears that something having to do with either nutrients or autonomic system is at work here.

I'm sorry about your Mom. It's so sad that older patients get dismissed like that. I'm sorry she can't be there to support you.

Do some more digging into your family's history too. See if there's anyone else with autoimmune or other issues.

I hope you can get some help. Mayo sucks to go to. Maybe there is a university somewhere close to you that could help. Don't give up hope!!!

Annie