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Wednesday, October 29, 2008

MTHFR

No, it's not an abbreviation for motherfucker.

It's the gene mutation they FINALLY diagnosed me with to explain the clotting disorders in my family. Yes, I am no longer a medical mystery to be treated with the utmost care. I actually have a problem. Yay!

I have MTHFR with 2 mutations = compound hetero MTHFR
get smart :
Methylenetetrahydrofolate reductase (MTHFR) is the name of a gene that produces an enzyme, also called methylenetetrahydrofolate reductase. this enzyme is 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. 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.
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.
SymptomsBecause MTHFR is a blood-based disease with many varieties,
symptoms vary depending on the exact mutation of the disease. They can include:
blood clots
depression
anxiety

Taking folic acid can help women with certain mutations of the disease. Folic acid can be found in eggs, dark leafy vegetables, such as spinach and broccoli, oranges and orange juice and legumes, such as peas and dried beans. Vitamin supplements also contain folic acid.
maybe I should plant an orange tree!
as for the 2 mutations that i have--> compound C677T and A1298C MTHFR mutation :
If you have two copies of the same mutation, you are homozygous. Homozygotes can have elevated homocysteine levels in maternal blood and amniotic fluid.
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.

So for now I'm to make an apointment with a High risk OB and my next pg will be considered HIGH RISK regardless.
I'm researching the benefits of possibly going on lovenox for my next BFP but i wonder if it woul
be "overkill" as Dr. F mentioned earlier.
things that make you go hmmmmm



1 comments:

Kristin (kekis) said...

You just had to go and have TWO mutations since I only have one. Bragger. ;)

Cheers to treatment, my friend!