Hi JC! We don't know yet if we have genetic BeriBeri. I was diagnosed three weeks ago with BeriBeri and my daughter was diagnosed today. The doctors are trying to figure out how to get us a prescription for the shots and appear to be a bit befuddled by the whole thing.

As of now, my mother is highly suspect as is my son. If they also have the disorder I think we may be looking at a genetic factor.

One thing that complicates the situation is that we're all gluten sensitive. Right now the assumption is that the trauma to the gut made it difficult for us to absorb B-1.

I suppose it'll all work out in the wash. Another month or two and we should have some answers.

I wanted to answer the question about getting a dx for your metabolic myopathy. I have not met the other two doctors you mentioned, but I got my Dx from Dr Shoffner in Atlanta (Mitochondrial Cytopathy, defects in Complexes I, III, and IV). Dr Shoffner was very thorough and is pretty well-known in the mito world as being the guy to go to for your dx. I am not sure who is the best for looking at the other metabolic myopathies, but I do know that Dr Shoffner knew a lot about them b/c we sent my biospy for the fatty acid oxidation defects, repeated my testing for the glycogen disorders, and sent it for some structural protein defects that I had never even heard of (in addition to the OX PHOS testing for mito. I do know that you need a fresh (not frozen) biopsy to diagnose mito, but many of the other metabolic myopathies can be diagnosed from a frozen biopsy. My frozen biopsy was inconclusive but my fresh biopsy was positive for mito on two different tests and also showed some indirect signs of it on two more tests.

Dr Shoffner is very busy, so it takes a few months to get in to see him. They will want ALL of your medical records, imaging, etc (he reviews it all before you come). You go to Atlanta for three nights and two days... get there the night before and then see him in clinic the first day, get your biopsy the second day, and go home the morning after your biopsy. He takes a lot of time with you in clinic at that first appointment. The biopsy is done at a hospital in Atlanta (Scottish Rite for kids and Northside for adults) by a surgeon. They give you sedation and local anesthesia for it, stitch it up, and it is no big deal. It took several weeks to hear back from him about the results. I was able to get my insurance company (an HMO) to cover it by getting a few of my local, in-network doctors to write letters saying that they don't have the facilities to do the fresh biopsy, which I needed based on a strong suspicion of mito. I have been hospitalized with rhabdomyolysis and metabolic "crashes" many, many times in the past few years, though, so my insurance company probably was able to see how a dx would save them money in the long run. It took a lot of pestering to get insurance to cover it, but they did cover it eventually. Dr Shoffner's office will help you with the insurance stuff if you want them to. I think it was well worth it.

I'm happy to find this forum. I'm still playing "Name That Disorder," myself, but hoping to find some answers soon. The best guess at the moment, after ruling various other things out, is that I have some sort of metabolic myopathy. I'm going in for a referral at a specialist institute but not until December.

Until then, I'm trying to cope with how to deal with my fatigue, which is my main symptom. I find it hard to explain to people, when I can do just about anything, but I can really only do about one thing per day (a choice between a few errands, a little work, or the gym for some absolutely crucial weight-training). And of course I look fine. In fact, I look great, because I've been lifting weights!

The hardest for other people to understand, though, and the one that makes me feel the loneliest, is that I get really tired smiling at people or even looking interested in what people are saying. My facial muscles just can't keep up. Though, I also can't completely blank out my face when I get tired; the social instinct to express things in my face is just too strong. Anyone else have this one?