Test Results

After December passed my Dr. did a whole bunch of tests on me. Many of which we have already done and some new ones. All those tests came back perfect and fine. I was talking to Tyler (Amber's husband) who's going to nursing school. They just finished the OBGYN part of the program and had a special speaker come in. The special speaker had many many problems with pregnancy and her children after they came and they found out she had problems with her protein C&S and also was compound heterozygeous for the MTHFR gene mutation. I had my Dr. run these tests on me because they hadn't been done before. The protein C&S came back normal but the MTHFR came back heterozygous.

So with all the hundred's of tests we've done (not to mention the thousands of dollar's spent) the only thing that has come back abnormal are: my testosterone levles are on the high side of normal and now we have found out that i'm heterozygous for the MTHFR gene mutation. So what do these things mean? ABSOLUTELY NOTHING!! Lots of women (especially in Itally) have high testosterone levels it doesn't mean anything except that you  have a higher sex drive and like "thrill seeking" activities. Both of which are very true for me. I don't have PCOS and according to my research: "Women can also benefit from midrange to high levels of testosterone. Mid to high range levels help improve a woman's sexual appetite as well as improve mood. Some women who have high levels of testosterone may be more prone to having sons instead of daughters, due to the testosterone levels. If you are a woman who has children, all boys, it is possible your testosterone levels are high."  All my other hormones are right on track and my estrogen is fine. I have periods every 27 day's on the dot, it's so predictable I can plan my vacation around it so I know that all is fine.

So what about the MTHFR? Here is the low down on it:

People with MTHFR gene mutations can have a decreased ability to metabolize folic acid and other B vitamins.

Different MTHFR Mutations
With MTHFR, there are two different genes identified for this mutation, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." According to the information I have found, the order of potential severity from most to least is:

1. C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. A1298C & A1298C (Two A Copies - A1298C Homozygous)
4. C677T (One C Copy - C677T Heterozygous)
5. A1298C (One A Copy - A1298C Heterozygous)

The heterozygous MTHFR mutation is relatively common in the general population. Approximately 44% of the population is heterozygous (having one copy of one of genes) and another approximate 12% are homozygous for the MTHFR mutation (two copies of either C677T or two copies of A1298A). Compound heterozygous and homozygous MTHFR have the highest incidences of being linked to implantation failure, late term miscarriages, specific birth defects and overall vascular health.

I'm heterozygous for the C677T mutation the 4th on the list. So essentially i'm like 44% of the general population. Nearly half the people in the world have what I have and it's not an issue at all. What this means to me is that instead of my body converting 100% of folic acid and certain other B vitimins it's converting about 70-80% Which is still a passing grade. This doesn't cause any problems in and of itself. As long as I take multivitimins with folic acid and B vitimins i'm covered. Which I have been taking for ummm.... 8 years now.

What does the MTHFR gene do?
Essentially the MTHFR gene takes the folate that you consume from food or vitamins, and breaks it down into a metabolized form that can be used by your cells to complete protein synthesis (the building blocks of DNA). More specifically, the gene MTHFR (Methylenetetrahydofolate Reductase) encodes the protein MTHFR. Its job is to convert one form of folate (5,10- Methylenetetrahydofolate) to another form of folate (5-Methyltetrahydrofolate). 5-Methyltetrahydrofolate is used to convert Homocysteine (a "bad" amino acid) to Methionine (a "good" amino acid). So, if MTHFR is not doing its job as well, homocysteine will not be converted to Methionine as efficiently and the homocysteine will be elevated in patient’s plasma. Elevated homocysteine has been associated with a variety of diseases (including but not limited to cardiovascular disease, stroke, Alzheimer's, recurrent miscarriage, etc.) and can also indicate a higher risk of DVT (deep vein thrombosis) or blood clots (hence MTHFR is considered an inherited clotting disorder in patients with elevated homocysteine levels).


So after reading everything about MTHFR I have decided to add folate (with 5-mthf already converted) to my pre-natals. I'm sure it wont do much but it makes me feel good to know i'm doing the BEST I can.


After finding out everything I went to a fertility seminar with Dr. Peterson (he's the leading Dr. with infertility and multipal losses in the COUNTRY right now) He study's and practices out of U of U. He is THE #1 Dr right now and I got to see him!! After about 30 mins of me explaining my losses and pregnancy history he looked at all my tests and said "there is only one test that i want to have done". He said he sees it alot with women who have my weird history. Especially because I've had 2 losses in the 1st trimester, 2 in the 2nd trimester and now my December Grace in the 3rd. He said he wanted me to get this one test done and filled out the script right there and then. He said if this test comes back positive that along with my MTHFR could explain alot if not all of my issues. I was so excited!! We were FINALLY going to know why. There was finally going to be an answer. But after 2 weeks the test results came back and all was normal. So were still back to square one. There is NO reason for my weirdness. If there was ANYTHING wrong with me we would have found it out by now. It's just to weird! It makes my head spin.

I went back to my OBGYN to go through everything one more time and to check that my IUD was in correct. While I was talking to my Dr. he pretty much said in his own words. Michelle stop wasiting your time and money trying to figure something out. There is obviously a reason but right now medically we are not advanced enough to figure it out. He still believes that December passing was due to a cord accident from the Omphalocele. I had him go through all the medical reports on December and all was perfect. There was no cause and an interesting thing i found out is she measured at 32 weeks she passed at 31. When I was holding her I thought she felt larger then 31 weeks. He said it was a "freak" thing and it was completely opposite from the reason i miscarry. He thinks we will be able to have another biological child because my body can do it. He said that he has patients that their body absolutely can not do it. It's just so crazy because everything went fine with Arianna. Plus everytime I'm pregnant it's totally fine. I feel fine and everything is perfect until BAM it's not. It's just so crappy! I'm in no way shape or form ready to have the stress and anxiety of not only worrying about my children dying before 20 weeks but the ENTIRE pregnancy! I know at some point I will be willing to do that but it won't be for a LONG time.

So now that you know all about my medical history you now know as much as everyone else... which is absolutely NOTHING :)