labwork updates

Remember the extensive labwork I had done looking for possible miscarriage causes? The 12-vial, $2330 tests were all normal. I was really bummed. It is good that there was nothing serious found, but at the same time it would help to know what the issue is, especially if it is something treatable. I cannot continue having miscarriage after miscarriage. At my followup visit to discuss those lab results, I asked the rheumatologist about one other condition that I had become aware of through a comment made by a friend--- Methylenetetrahydrofolate reductase (MTHFR). He agreed to order the test for that condition.

I got the results from the new test on Friday. It turns out this IS an issue I am dealing with! I feel like saying "Praise the Lord, there's something wrong with me." Is that silly?

Methylenetetrahydrofolate reductase (MTHFR) is a rare genetic defect that can lead to complications in pregnancy. Many people do not know that they have this defective gene until after they have had several unsuccessful pregnancies. Others may carry one pregnancy to term and not discover until afterwards that they carry the defect.

What is MTHFR?
Methylenetetrahydrofolate reductase (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, it can result in hyperhomocytenemia, which is an elevated level of an enzyme called homocysteine found in blood plasma.

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.

MTHFR and Pregnancy
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.

Elevated levels of homocysteine have been associated with placental disease, preeclampsia and recurrent pregnancy loss. 21% of women with high levels of homocysteine experience recurrent pregnancy loss.

Without treatment I am at an increased risk for heart attack, stroke, and deep vein blood clots in addition to increased risk of pregnancy loss. Now that we know about this I am to take high doses of folic acid, vitamin b6, and b12 each day, along with aspirin therapy. If I have any pregnancies in the future the rheumatologist and my OB will together decide if I need additional blood thinners based on labwork at that time.

I am so encouraged by this. It feels good to have some answers and a plan for the future.