The "little thing" that turned up in my bloodwork sounds scary, but it's really not too bad. I'm a mutant! I have two copies the mutation C677T on the MTHFR gene.
From what I can glean from reliable Internet sites, this is not uncommon. 5-10% of Caucasians may be homozygous for this mutant gene (have 2 copies of it).
The effect is that my body can not metabolize folate properly. Folic acid! Vitamin B9! The one and only supplement that is prescribed for all pregnant women, because a lack of folic acid is one of the very few things for which they've found a real correlation with miscarriage, stillbirth, and birth defects. A lack of folic acid is associated with neural tube defects, especially spina bifida. Of all the garbage you hear about what to do to maintain a healthy pregnancy, taking folic acid is one of the few that has a basis in science, and isn't just fear-mongering or a fad of the moment.
It is entirely possible that all of my failed pregnancies were caused by this problem, or it could have nothing to do with it. The doctor didn't order a test of my folic acid levels, but I see there is such a thing, so I'll ask for it the next time I see her. My body can metabolize some folic acid, so taking large supplements is the way to fix the problem. (I've already started a supplement called NeevoDHA.) This also means that if I've been getting enough of this vitamin in my diet plus the prenatal vitamins that I've been taking for years, I may have had plenty in my system all along.
So, as far as pregnancy goes, this is not any kind of conclusion - just one negative factor to eliminate with the easy fix of taking a different vitamin.
As for my own health, this condition means that I am at higher risk for heart attack, stroke, or anything else that involves blood clotting. However, I am not clear (and I'm not sure doctors are either) on the causality chain here. I think that the inability to turn folic acid into MTHFR properly causes hyperhomocysteinemia (elevated levels of homocystein in the blood), and that hyperhomocysteinemia causes the clotting problems as well as the problems in pregnancy. My bloodwork included a homocystein test, and my levels were normal. This may mean that I've been managing to get enough folate to overcome my body's substandard production of the MTHFR enzyme, in which case, there would be no ill effects (unless I got the causality chain wrong). But other things I've read indicate that it is not entirely clear whether homocystein levels are a reliable test in assessing these risks.
This web site has a brief but clear explanation of some of the issues, if you're interested.
(I really wish I could find a link between hyperhomocysteinemia or low folate levels in the blood, and any kind of pain. If this could explain my mystery pain, and if taking a vitamin could fix it, how happy I would be! I did see one, less reliable web site that mentioned pain and fatigue as symptoms of hyperhomocysteinemia, but since I don't actually have elevated homocystein levels, I think this would be grasping at straws. Still, I'll bring this up with my new doctor when I see him.)
Hopefully I can clarify these questions at my next appointment with the fertility doc. In the meantime, she wants Adam and me to get genetic counseling. We did this after our first pregnancy loss, and they didn't find enough in our family histories to even order any tests. Unfortunately, I can't seem to get my hands on those medical records, and my new doctor doesn't trust my memory. She recommended a genetic counselor in Bethesda, which means that we'd both have to spend an entire day on that project and hire a babysitter. Also, this geneticist does not take insurance, so we'd be paying out of pocket. We've decided to put that off for the time being.
And that's all for now, folks.