Geode- I don't know much about mitochondrial diseases, but I have had a few people mention that to me.. that it can involve drooping eyelids too.. what is the treatment for it, if there is one? prognosis etc? hope you find answers soon!

I am still in the early learning phases myself. I've come across it from time to time, but doctors have been more reluctant to consider that possibility than even MG and HKPP. I've been told by doctors: "You have to get it as a child" (false) "It doesn't fluctuate so much like yours does" (false) and "This just doesn't look like mito, it can't be" (based on what???) Because there's not really a good treatment and diagnosis often involves a muscle biopsy, I guess I've buried my head in the sand on this diagnosis. The subject just came up on the HKPP forum again, with a link shared to a site I'd never seen, so have been revisiting this possibility.

From what I've seen so far, it is mostly "managed" with vitamin and cofactor therapy, symptomatic treatment, and lifestyle modifications. Although, based on the video that Alice shared (thanks Alice!), I think there is potential for more than that. If you want to read up on it, check out mitoaction.org and umdf.org


Some key points I've learned in the last week or so:

They used to think mito affected about 1 in 50,000 to 100,000 people, but now they say the incidence is 1 in every 2-4,000. One source says that 1 in every 200 people carries a genetic mutation that has the potential to develop into mito disease.

All cells except red blood cells have mitochondria, and mito disease can affect many different body systems. One source says, "Think mito disease when 3 or more organ systems are involved." I have tachycardia which the cardiologist believes is POTS but we're doing a 30-day Holter monitor just to be sure, GI symptoms, muscle weakness, and brain issues with motor control/spasms.

As I've been reading through this MG forum, there's been a couple of people with POTS. One person said she has POTS instead of MG; one response to that was that POTS wouldn't cause ptosis. Maybe not, but Mito can cause both POTS and ptosis (as well as other weakness resembling MG). Additionally, at least one form of catecholamine imbalance can cause both dysautonomia and ptosis. How many things can go wrong in a human body? It's mind boggling that anyone's healthy.

Tatia, Have you done research on the mitochondria themselves? Look up the Krebs Cycle. If there is a "kink" in this cycle, it does not work well.

Since you get worse after you eat (is that correct?), I was wondering if your glucose does not get broken down properly at that cellular level. I did a bunch of research ions ago and it showed that some MGers do have mito issues. Search PubMed for that.

This is a great video of what happens in the mitochondrion.

http://highered.mcgraw-hill.com/site...__quiz_1_.html

So if the Krebs Cycle doesn't work well, energy is not produced. That energy is necessary for every single part of the body.

Has anyone done the lactate and pyruvate blood tests for you?

A lot of doctors don't know about this in detail. You would probably have to go to Mayo for a muscle biopsy. They're one of the few places who can look for it well.

Have you had your vitamin D checked? That can cause muscle pain too.

Have you tried seeing how you do on a liquid diet? Have you tried protein shakes, like rice protein, to see if it makes any difference?

If you do have any kind of metabolic issue, you should try to stay away from "fake" sugars or sugars in general. Also, additives tend to mess with the Krebs Cycle too (i.e., MSG). If your body is having a hard time breaking food down, for whatever reason, try not to eat foods like beef, which is very hard to digest. You may need to rethink your entire diet!

Keep asking questions. Sometimes the harder to figure out diseases are when doctors give up.


Annie

http://www.uic.edu/classes/bios/bios.../krebsfull.htm

Thank you so much, Annie, for the links and ideas. I am still in the process of looking up all this information you presented and trying to master it and make sense of it. Sometimes you don't know what it is that you don't know; so you don't know how to look for it. Therefore, I always love it when you introduce new concepts to me so I can keep learning.

The one thing I do know about what you said is regarding the sugar. Terrible confession, you'll cringe, but I used to eat a Sausage McGriddle every morning for breakfast. After learning about periodic paralysis, I started eating breakfasts much lower in carbs, and it made a big improvement in reducing my morning attacks. Although, I often follow a low-carb diet for weight loss and it doesn't really make a difference in the overall scheme of my symptoms.

Tatia

oops P.S. I tried a rice protein powder drink from the health food store once, and went into one of my more severe attacks. I was a little afraid to try it again after that.

"Health food" is not healthy for everybody, just like exercise is not beneficial (and can even be detrimental) for some.

It does sound like you have a complex (possibly not yet recognized) metabolic abnormality.

Possibly a properly done cardiorespiratory stress test, could give at least a clue to the nature of the problem.