I have what?!

Today I got some very unexpected news. I was about to go a see a movie when I get a phone call... from the maternal fetal doctor.

After my abnormality ultrasound screening, I had a consultation with the maternal fetal doctor. I told her about my medical history as well as Will's. She asked me if I had ever been screened for a genetic abnormality (a long word I can't even begin to pronounce) that could be related to his defects. I told her that I didn't think so, and she asked if it was okay to do so. I said sure and they took a blood sample.

Well, apparently I have this extremely rare genetic disorder. It's calledMethylenetetrahydrofolate reductase, or MTHFR. This hit me like a freight train. After the ultrasound, Josh and I felt a sense of relief. This pregnancy was different. This baby is going to be okay. And now this?! We have talked to so many doctors, specialists, geneticists... and NO ONE even mentioned this. We had Will's blood examined by geneticists at 4 of the top hospitals in the country! Michigan, Vanderbilt, John Hopkins, The Mayo Clinic... totally baffled me.

So, what exactly is MTHFR? It's the name of a gene that all of us have. We get one from our father & one from our mother. This gene produces an enzyme that assists us in metabolizing folate (also known as vitamin B9), such as folic acid. Well, my MTHFR gene is mutated, which means my body cannot efficiently metabolize folic acid and vitamin B9.

As many of you know, folic acid is essential to the development and health of a fetus. So when I was pregnant with Will, my body did not have the folic acid it needed which caused him to be born all of his congenital abnormalities. This disorder has also been linked to placental disease, recurrent pregnancy loss, and preeclampsia. (I had preeclampsia with Will, which is why I had to be delivered at 35 weeks.)

Because MTHFR is a blood-based disease, symptoms can vary depending on the exact mutation of the disease. I don't know exactly which mutation I have, but I will call and ask tomorrow. I know that either one or both of my genes that I received from my parents are mutated.

From what I understand, there are not only implications for pregnancy, but for my own health as well. I know some of the symptoms can include blood clots or hardening of the arteries. My doctor has prescribed that I take 800 mcg of folic acid 4 times a day for the rest of my life... not just while I am pregnant or trying to conceive.

There is definitely an upside to this. One of the most frustrating thing we went through with all of Will's health problems was that we didn't know what caused this. Now, we do & we know how to treat it. The other good news is that the most critical stages of development for our baby girl have passed, and she is healthy. My concern is keeping her to term. I am not too clear on the implications for preeclampsia or placental disease. From what I've read on the Internet, this disorder is very new to the medical community and it's implications on pregnancy has just recently been discovered. It is also extremely rare... only 200,000 in the US population have this mutation.

I will post more when I talk to the doctor. I don't really know what this means in terms of how I will be treated for the rest of the pregnancy. Will I need to see an endocrinologist or specialist? How is this monitored and how often? Lots of questions.

Please keep us in your prayers!