Oh what fun. SO I went to the dr's office yesterday and met with a CNP instead of my regular neuro (as the neuro was seeing somebody across the breezeway, in the hospital). We discussed my symptoms, etc.. talked about Fabry Disease, and possibly testing me for it. Well, in the end, she wrote me a prescription for Zanaflex, which (on top of the Topamax) should knock me right the f*ck out at night. LOL (She wrote me up for 4mg, 1/2 a pill before bed time. I think it's for the muscle cramping I get, although looking at the website, it says it has a short term effect in the body? So I'm not sure how long I'll be taking this for. I'll go back in 6 weeks for a follow up).

She said their lab could not test me for Fabry Disease (in a minute you'll see why), and that in any case, the test is not as reliable when done on women- I could have it, but still test negative. Sigh.. so unless there was a reason to test Matthew, I'm pretty much on my own in having it done somewhere, at a genetics lab or something. She did have me tested for Celiac Disease, though. I went downstairs to the lab, and waited, as the woman called to ask what the hell each test was (all 6) because she needed to know what color tube to put my blood in. One of them, even the guy she called in to, had no friggin' clue. So she had to call the dr's office. The CNP had left, the doctor was gone.. so she called this guy back and I swear to God, asked him to guess what color he thought it went in. LOL! So I've been waiting for them to call me back in to re-do that one test. I did get a call-back a few minute ago, saying all is well, and I won't need to go back. Whew! Could you imagine them testing for something RARE?! LOL!

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This is what I find very interesting.. (pardon me if I've posted this before, but it just makes it all the more "clear" to me why the doctor at the genetics lab was curious about my various symptoms).

"Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier."

Ok, now there is also this article which states that "The UMDNJ researchers say they have found that children with autism are unable to metabolize key fatty acids that help the body fight inflammation that causes damage to the brain and other organs."

Now, it's probable that I don't have this Fabry Disease, but still. I find it entirely fascinating. Genetics are somethin' else. God knows what the hell I have. Not MS, like my mother. Not whatever half the people on my dad's family supposedly have (although I really doubt they all have Fibro- especially not my 8 yr old cousin. He's too young for that kind of diagnosis, IMO). My sister has issues, and they probably aren't the same as mine, either. But they're all related, to a degree. And here's Matthew, with Autism, which is being studied by many as an autoimmune disorder/disease. Again, related.. somehow. (Of course the environment could have a lot to do with it, too).