positive.

Many in my life know that I have MTHFR Homozygus Mutation (I know, it's a horrible name). This is a blood clotting disorder that I tested positive for after having Noah. I would never have been tested if he had not been born early. I now take the appropriate B6, B12 and Folic Acid to keep my homocysteine levels in check (It's monitored via blood tests yearly). Noah's pediatrician wanted to test him and he too tested positive--he has one copy of each of the two mutations (compound heterozygous). He has been put on a concentrate of Folic Acid to start and will be on this the rest of his life. In the grand scheme of things, not a big deal-- this disease does not typically show itself until adulthood. But it can take your life in a single swoop. That's why it is so important for everyone to get tested. There are no symptoms and it's very common. Here's some info:

What is MTHFR?

MTHFR - (Methylene-tetra-hydro-folate-reductase) is an enzyme found in the cells of our body. It is needed to metabolize (break down) homocysteine, an amino acid found in the proteins you eat. Elevated homocysteine levels have been associated with fetal neural tube defects (i.e., spinal Bifida) and miscarriage. An elevated homocysteine level can also indicate a increased risk factor for blood clots, arteriosclerosis (hardening of arteries) and strokes in both men and women.

The metabolism of homocysteine depends on several enzymes, one of which is MTHFR, along with B vitamins and folic acid. In other words, B vitamins, folic acid and MTHFR are necessary to keep homocysteine levels within normal limits.Sometimes your MTHFR has a genetic defect. These defects are fairly common and its estimated by some studies that up to 60% of the population have one MTHFR mutation or another.There are two common genetic MTHFR mutations. If you have one mutation only, you are heterozygous. It is reported that nearly half the population is MTHFR heterozygous. - it is nothing abnormal. If you have two copies of the same mutation, you are homozygous. Homozygotes can have elevated homocysteine levels in maternal blood and amniotic fluid. If you have one copy each of the two different mutations, you are compound heterozygotes. Compound heterozygotes have the same treatment and risk level as homozygotes. If you have neither mutation, you are negative and don't need to worry about MTHFR.

is NO CURE for MTHFR mutation. If you have the mutation, that's the way your body is made. You can, however, lessen any risk factors you have by taking B vitamins, Folic acid and baby aspirin in doses prescribed by your doctor. By taking these agents, you can lower your homocysteine levels and therefor your risk for the conditions above.

MTHFR mutations are hereditary. Families with significant early cardiovascular disease or recurrent pregnancy loss might benefit from clinical investigation.


Noah probably saved my life by being born early. I would have never been tested otherwise. But the poor kid got it himself. :( You can only have MTHFR if both of your parents are carriers of the gene (doesn't mean they necessarily have it-- but they could). Because Noah has it, Joe is getting tested (he is definitely a carrier and may actually have it). Next time Reese has a blood test she will be tested as well.

Because I have it, both of my parents are carriers. My dad tested negative (he is only a carrier) and my mom refuses to be tested (shocker). If you read this and you see her, please do harass her.

I cannot say it enough. If you are getting a blood test for any reason ask your doctor to include testing for MTHFR. It can be a deadly disorder, but is so easily managed if you know you have it.

MTHFR, Joe's Results -to follow.