MTHFR… an exciting new acronym to add to the mix

Great news! I have a rare genetic disorder.

It’s called MTHFR gene mutation. If you google it, as I did, you will soon find yourself up to your neck in incredibly complicated information, like this helpful piece from Wikipedia:

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that in humans is encoded by the MTHFRgene.^[2] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteineremethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.^[3][4]

See? Aren’t you glad we cleared that up? What’s that you say? Your biochemistry is a little rusty?

I have what they call heterozygous 677 (one bad half of the pair) and homozygous 1298 (both halves are bad). While it’s common to have at least one of these be mutated, having three out of the four is not common at all. The doctor who tested me for it is convinced it caused all my pregnancy problems in the past, including the placental abruption that led to the loss of our preemie Jacob in 2001, and the other five early miscarriages that I went through. The net total of 8 pregnancies for 2 healthy boys is what raised the issue in his mind when we first met. He thought I probably had the MTHFR gene mutation, and tested me for it, and he was right.

My first thought was “Why the F*** didn’t the Clinic find this already? They’ve tested me nine ways to Sunday.” But then it occurred to me, which I later confirmed, that when I was really in the thick of it was way, way back in 2001. Eleven years ago! Which is light years in terms of genetic science. I really think they just didn’t know about it back then.

This guy explains it pretty well:

 http://www.youtube.com/watch?v=tBUCeulUoe0&feature=related

So… what’s it all mean? Well, that remains to be seen. So far, what I understand is that it makes me much more prone to blood clots, which can lead to pregnancy loss, and which also can lead to a higher risk for more serious things like stroke, pulmonary embolism, etc. And because my body cannot utilize folic acid in the normal way, this can create a deficiency effecting many or all body systems. It gets worse with age– hello?

What I find encouraging about this news is that it could be causing more or less everything to go to hell in a hand basket, including POTS, and lots of other crap, and — the best part– it’s treatable. There’s debate about what form of folic acid to take, and how much, and so on. But everyone agrees that your body can’t utilize folic acid the normal way, and that this can cause a lot of problems because that is needed in almost every function top to toe. My gyno said to take 4 mg of folic acid a day, plus baby aspirin to keep my blood thinner and clots at bay. Looking around online I’ve found several people who say that methylated folic acid is the way to go instead, but I’ll figure that out by trial and error if nothing else.

In the meantime, I have to say I’m kind of happy about it. This could be a game-changer.

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