Wednesday, November 21, 2007

It's Official: I'm a Mutant.

More specifically, I found out yesterday that I have compound heterozygous (C667T and A1298C) mutations for the MTHFR gene. These mutations cause a thrombophilia (blood clotting) disorder. So now I've got follow-up appointments with a whole host of doctors, including a hemotologist and an endocrinologist.

There are a couple of reasons why finding out that I have this mutation is actually good news:

  • It explains the significant medical issues that I've had this year, which have caused anxiety, depression, and grief for both me and my husband. So as weird as this may sound, it actually comes as a huge relief to have some sort of definitive diagnosis, because now we have hope that things can be better in the future.

  • The condition is treatable, and the treatment is pretty simple and very effective-- I'll just have to take baby aspirin and extra supplements of folic acid, B6, and B12 for the rest of my life. (I may also need heparin injections, but not all the time.)

  • By finding this out now, I can significantly reduce my risk of having a thrombosis, stroke, or heart attack later on in life.

  • Since it's an inherited condition, my family can be tested for it as well. And if turns out that some of them are "mutants" too, then they can also reduce their risk of having thromboses, strokes, or heart attacks.

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