What Does That Mean, Exactly?

We were at the doctor's office for my second prenatal visit, even though I was only about 7 weeks pregnant, so the doctor could go over the results of the many tests she ordered for me due to my previous two miscarriages. As she was going through my file, she realized that one of the tests was missing and had her nurse check with the lab. The good news was that so far all the tests had come back negative. I didn't have 4 out of the 5 known causes of recurrent miscarriage. Then the nurse came back with the information that the lab had not finished the final test. My doctor said she would call me as soon as they were in. I went home thinking it might be just a delay, but that probably they had found something in that last test. I just had a feeling that the negative ones are quick and easy, but positive results might take longer.

A few days later my doctor called with the results of my lab work. She said that I tested positive for the homozygous MTHFR mutation. I said, "What does that mean, exactly?" and "What does that stand for?" She explained that the condition was treatable and that she wanted me to start taking one baby asprin everyday and 4 mg of folic acid. As for what it stood for, she told me it was one of those sentence long words, which is why they use the abbreviation :) She also told me that having this condition was the likely cause of my miscarriages. At the same time, the fact that I had had three healthy children was a reason to be optimistic about this one working out with treatment.

Of course, when I got off the phone, my head was sort of spinning as I tried to digest this news. I was actually a little surprised that having a WHY to explain my earlier losses did not bring me more peace. I also found it very strange to think that I've had this gene mutation all along and never known it. I also had to remind myself that I should be thankful, because at least my problem could be treated fairly simply.

But, maybe you feel like I did that first day. You have a vague idea of what I have and what it can do, but still don't understand what it is exactly. I decided to do some internet searching and make my list of questions for the doctor from there. After researching, this is what I found out. The official name of the gene is 5,10-methylene-tetra-hydro-folate reductase which is why I agree that MTHFR is much easier to remember! Basically, this is a gene that has a few possible variations, some of which can contribute to blood clotting problems and cardiovascular disease. Its primary function is to produce the enzyme needed to break down homocystine levels in the blood and folic acid. For me the important piece is the folic acid part. Since I have a variation in this gene my body does not absorb folic acid as easily as it should. Without enough folic acid early in pregnancy, a baby can develop neural tube defects which can also lead to miscarriage. The blood clotting piece of the puzzle can lead to blood flow problems in the placenta, etc. Thus, the 81 mg of asprin I'm taking daily and the 4 mg of folic acid (plus some other B vitamins), plus a Super pre-natal vitamin. Just to give a point of reference, a normal dose of folic acid is 400 to 800 mcg for a pregnant woman. That is less than 1 mg of folic acid per day.

One of the other most interesting things I found out is that MTHFR and its connection to miscarriage has only been known about since the 1990s and it affects about 10% of the North American population. Its also more common among Northern European and Mediterranean people. I've known about my genetic issue for about four weeks now and have stopped searching the internet. One reason is that I came across several forums regarding this condition and would read about all the struggles other people had had trying to get pregnant, with as many as 5 miscarriages before they found out. It was too sad. I also stopped because sometimes there really is such a thing as too much information! I feel good now that at least I get to do something to help this pregnancy along and I'm not completely helpless. I'm also very thankful that I decided to change my OB care to my family practice doctor because she has been so thorough. My previous person did not even offer me any of the tests that she ran and then I still would not know.

For those of you who might be interested in a little more information here are a couple of links that I thought were decent. One is a forum, but it has a very good summary on the home page:
http://ghr.nlm.nih.gov/gene=mthfr or
http://mthfr.150m.com

There is also always the option of putting it into Google.

Anyway, thanks to all of you who were interested enough to read this whole thing and for all the prayers and support. I really appreciate it.