Thrombophilia Test Results

Well, as it turns out, I tested negative for Factor V Leiden (one of the two clotting disorders that Ariana has) but positive for both components of (homozygous) MTHFR mutation (Methylenetetrahydrofolate reductase). This has several implications for our family. First of all, it tells us that Jake has the Factor V Leiden clotting disorder, and that he probably does not have MTHFR. It also puts me at a high risk of developing clots during this and subsequent pregnancies. My doctor is sending me back for a follow-up with the "high risk doctors" at Fetal Women's Center, during which they will evaluate whether or not they feel that I need injectable blood thinners for the remaining duration of my pregnancy & any subsequent pregnancies. I am really hoping that this is not the case, but it most likely will be and I'm preparing myself for that potential reality.
MTHFR is the name of a gene that produces an enzyme, also called methylenetetrahydrofolate reductase. If a person carries the genetic mutation that inhibits production of this enzyme (like my children & I do), it can result in hyperhomocytenemia, which is an elevated level of an enzyme called homocysteine found in blood plasma (what puts a person at an increased risk of clots). However, some individuals with MTHFR gene have normal homocysteine levels, meaning that these individuals are not at an increased risk of clots. Me, along with Gabe & Ari, will be checked with regular blood tests to make sure that our homocysteine levels are within normal limits.
When the body is deficient in methylenetetrahydrofolate reductase, its ability to absorb folate (also known as vitamin B9), such as folic acid, is inhibited. Folic acid and B9 are both essential to the development and health of the fetus. Because of a mother with MTHFR's inability to efficiently metabolize folic acid and vitamin B9, the disorder has been linked to a variety of pregnancy complications such as chromosomal abnormalities, such as Down syndrome, and congenital malformations (such as Isabella's Transverse Limb Reduction Defect). Aside from pregnancy complications, MTHFR has three main symptoms: 1)blot clots or early cardiovascular disease 2)anxiety 3)depression. Sounds lovely, doesn't it? One general treatment (which is just maintenence, not a cure) is taking a daily folic acid & vitamin B supplement. Gabe & Ariana already do this. In the future, I have to abstain from any form of hormonal birth control (including the pill, IUDs, etc.) and prolonged periods of immobility. So that's the low down.