Can I ask how did you get diagnosed with MTHFR. I recently had a M/C and I will never know why but I want to talk to my OB about progesterone and I want to understand a little more about MTHFR after I read in another post by you that you have this.
I got diagnosed after seeing a Genetic Counselor. Typically, genetic testing is performed when you've had RPL (recurrent pregnancy loss which is 3 or more m/c in a row) or any m/c or loss in the 2nd or 3rd trimesters. I had 2 m/c in a row and the 2nd one was in the 2nd trimester to a genetically 'normal' male. Insurance would be unlikely to cover this testing after just 1 m/c in the 1st trimester, but you could always ask about the costs if you're really interested.
I pushed my Dr for a referral to a Genetic Counselor and they tested me for a whole slew of things (literally, it was something like 13 vials of blood!) What came back was that I'm Compound Hetereozygous MTHFR, meaning that both copies of my genes are affected. I inherited this from both my father and my mother. Retrospectively, my mother's side of the family has a history of both recurrent pregnancy loss and cardiovascular disease so we fit the profile to a 'T':
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
There 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.
ps: Yes, I did conceive another girl on Neevo, but that certainly wasn't my goal. I'm also on baby aspirin, but I didn't use that while TTC, just after ovulation.