I get really fed up with the doctors sometimes, too. I finally have a team of doctors that I am mostly comfortable with, though I could probably stand to get a new nephrologist (kidney doc), since my other docs don't agree with what he said and think there are things he should have ordered, etc. I have a whole bunch of doctors, though... and they are pretty much good ones, though they have their quirks. I have a metabolic/genetics doc that I really like, and I also have a neuromuscular doc, a primary care guy, a cardiologist, a pain management doc (she is a PM&R doc), an ophthalmologist, a psychiatrist, an ENT, and an allergist. And the nephrologist guy that I am thinking about replacing. So with all of those doctors involved, it has been really important to make sure that they are all educated about my disorder (it is rare) and that they are accessible when I am sick and that they are smart enough and involved enough to help figure this all out.

I have a diagnosis now... I have a metabolic myopathy that we think is most likely a mitochondrial disorder. We are working on pinning down the mito part of the dx (just got insurance approval to get my fresh muscle biopsy done). They are sure that I have a metabolic disorder that is causing my myopathy, my kidney & acid-base stuff, and maybe my cardiac and neuro stuff.

But 5 years ago, I got sick with some weird neuro symptoms that in retrospect seem to fit with the stroke-like episodes you can get with mito... and I had a terrible "undiagnosed" experience beginning with those symptoms. The neuro people ruled-out MS with an MRI and an LP. I had an EMG and some bloodwork. That was it, though. None of the stuff that was ordered would have showed the mito stuff. After they were done ruling-out MS, I was still having symptoms but they decided it was all in my head since I didn't have any of the disorders they were testing for. It really sucked because I was still getting this numbness, weakness, etc... and terrible fatigue, and also bad nausea... but they were telling me it wasn't real. I alternated between being angry with them for not believing me and doubting my own perceptions of reality. The neuro stuff gradually got better, and I had a little while of healthy time before I got really sick in Jan 2005 and my disorder sort of declared itself. Having symptoms and no diagnosis is a really awful experience, though.

Even now, when we know that I have this metabolic stuff, I have encountered docs while at the ER or inpatient , who are disbelieving of the whole thing. I have had them say stuff like "but that's so rare, what are the chances you actually have that?" (To which I say that the chances are pretty good since I fit the clinical characteristics, have some funky labs and a funky muscle biopsy, and since my specialists who actually know about metabolic disorders think I have it).

There is something the medical people say about rare diagnoses: "If you hear hoofbeats, think horses, not zebras." I have a "zebra" diagnosis. My reply to the "hoofbeats" thing is that when you get close enough to see that hoofed animal, and you notice that it is white with black stripes, and you are on the plains of Africa... you'd be stupid not to call it a zebra.