Ain't this a...

Motherfucker....yup...I have the MTHFR A1268C mutation.  Not really sure how to feel about this. Meaning I guess its better than having unexplained (in)fertility or it being caused my something else that would be more difficult to control. I must say that, out of all the tests that the OB had me take, this was not the test I expected to come up positive. I thought this was a white person's disease, after all black people only get sickle cell.... right???.

 The good news is that I have only one copy of it, and it's the least serious kind.  The soso news is that the mutation is fairly common, and the research is inconclusive as to its effects on m/c but the indication is that if it does cause m/c, its due to the inability of the body to metabolize folate into its useable form which can cause spina bifida etc, but in early pregnany, more with clotting issues.  The better news is that if this is the cause, then its easily fixable with increased folate, B6, B12, and a baby ASA (or lovenox/heparin). 

SO....one possible cause identified...still have the rest of my rpl w/u next month when AF comes..so we'll see..

SOME FACTS per http://www.pregnancy-info.net/mthfr.html

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.