Give it to me straight, doc

Well, the results are in. And from what it seems...the issue lies solely within me. My husbands results came back perfect! More than perfect actually! I knew his results would. I mean, he's batted home runs 4 times in a row now! He's a champ! Me on the other hand.. well for starters, my HSG results came back great! Uterus showed no abnormalities and fallopian tubes are wide open! No blockages! So that was refreshing to hear! Also my FSH and AMH results came back, which basically gives you an idea of how your ovarian reserve (eggs) are....and my numbers looked great! Lots of little eggs left so definitely not going through menopause anytime soon! Yay! Now for the bigger issues. 

Here are my results: 
 - Heterozygous for 1 copy of the MTHFR C677T Mutation
 - Homozygous for 2 copies of the PAI-1 Serpine 4G/4G Variant 
 - Chromosome 9 inversion. 

 And there ya have it. Here is a brief rundown of what each one is:

What is MTHFR? 

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 about MTHFR.

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.

PAI-1 4G/4G

      PAI-1 4G/4G has to do with the blood clotting system. Everyone has a plasminogen activator inhibitor that is responsible for helping to breakdown blood clots. A person can have PAI-1 5G/5G, PAI-1 4G/5G, or PAI-1 4G/4G mutation (4G/4G being the worst- the one I have). When the PAI is “broken” or “mutated” blood clots that form are not broken down as they should. With pregnant women, this can cause clots in the placenta, cord, or uterine wall, inhibiting effective implantation. MTHFR and PAI 1 4G/4G are a bad combo. MTHFR can be responsible for forming clots - and the PAI 1 4/G/4/G cannot break them down once they are formed. 

Pericentric Chromosome 9 Inversion

Pericentric inversion in heterochromatic region of chromosome 9 (inv[9]) is a common (1–3%) heteromorphism in the general population. Chromosome inversions are a relatively common structural alteration. There are 2 types of inversions. If both breakpoints are on the same side of the centromere, the inversion is paracentric; if they are on both sides of the centromere, then it is pericentric inversion. Pericentric inversion in the heterochromatic region of chromosome 9 has been recognized as a normal variant, generally without phenotypic effect. 




Pretty overwhelming stuff. My doctors and the lab tech, both agreed that they do not think the Chromosome 9 Inversion plays any issue in this. The lab tech stated that they are so common, he see's at least several a day. He also said it's considered a normal variant because the genetic codes are all there and the break point is in the center which leads to no issues. So I am just going to take their word on that and focus more on the blood clotting issues. Man oh man. Now time to figure out a gameplan...