13 June 2006

I'm a "Mutie".

It's true. I want to laugh because it's so ridiculous but...meh.

To bring (anyone) up to speed, I've got some bleeding problems. What everyone needs to understand is:
~A bleeding disorder is when someone bleeds too much, and cannot clot properly;
~A clotting disorder is someone who clots too much, and cannot bleed properly.
There. Read on.
My homocysteine and plasma levels are elevated due to two heterozygous mutations of the MTHFR gene: C677T and A1298C; also, due to a homozygous mutation of the PAI-1 4G/4G...allele? Or gene. I can never remember. So today I went to get my lab results from Dr. Iriye. It turns out I'm also doubly-positive for the ACE D/D mutation. Which not only makes the other mutations worse, but heavily increases my risk of stroke, heart disease, and myocardial infarction, all by several hundred percent. (And, oddly, it can cause diabetic nephropathy.)

So, I have to update my medic alert bracelet, I have to seriously cut down on sugar, and I have to take a pregnancy test once a month. Period. I have to be on heparin within days of any conception.

Oh, yeah, and I have to see a hematologist to have my Factor VIII retested. There's a pretty big possibility that it's low. I tested low once but because of the polymorphisms present in my blood for clotting, it was largely overlooked. So they want to isolate the test. And, in a selfish way, what makes this worse is that I'm female. Clotting and bleeding disorders in females are mostly reactive to hormones. So one day, I'm normal. The next, I could become dizzy from the dilution of my blood or become lethargic with the increased coagulation of it. What joy.

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