This blood work was being ordered by my OBGYN after consulting with a high risk doctor because of a family history of blood clots, DVTs, and a pulmonary embolism.
Tuesday I got a call from the doctor (nurse) that they had the results of these tests. She left a message that said they got my test results back and they were a little off and that I was being referred to a high risk doctor. End of message and we never got a call back the rest of the day. Dave and I were FREAKING out the rest of the day. Wednesday morning I called the nurse again who called me back pretty quickly. Test XXX - normal. Test YYY - normal. All of them came back normal except for two which came back "off", as they put it. I was now being referred to a high risk doctor who specializes in hematological disorders in pregnancy. The two tests that were "off", one was a protein that was low that can cause blood clots and the other was a gene mutation which doesn't allow the body to absorb folic acid and other B vitamins into the body. This mutation can cause heart attack, blood clots, or stroke, preeclampsia and placenta abruption, and neural tube defects in the baby. This scared the sh!t out of me. See, my sister lost a cost a child at 20 weeks due to a neural tube defect.
After crying a thousand tears in the last two days, I started asking questions and googling the hell out of it (and using the husband's expertise since he studied genetics in college). While I understand the low protein will probably land me on blood thinners for the remainder of this pregnancy, I was more concerned regarding the gene mutation. This mutation is quite common, actually. Like 40% of people have this mutation. There are two types: homozygous, which means you have it from both of your parents, and heterozygous, which means you carry only from one of your parents. The homozygous is the one with more concern as it can cause the neural tube defects. Heterozygous, according to one article I wrote (by an OSU doctor who works two floors above the high risk specialist I will be seeing) is "medically irrelevant."
So, where does this leave me/us? With a lot of upcoming appointments. We have an Ultra Screen on Monday which test for down syndrome and spinal bifida, although the false negative/positive percentage on this test is not all that great. Next Thursday I have my regular appointment with my OBGYN, and then on October 16th I see the high risk OB.
What do I think about all of this? After the initial shock of thinking OH GOD! EVERYTHING'S FALLING APART!! I actually have a lot of positive thoughts about it.
First, if things were really, really bad, I think the doctor would have sent me straight to a hospital or had me into her office. Although I know the October 16th appointment with the high risk doctor was probably the first appointment, if it were truly an emergency they would be taking quicker action.
Secondly, I have always assumed that I have a vitamin B deficiency as I'm tired all the freakin' time. Also, this same family member who has the blood clotting issues also has a B12 deficiency so badly, that she gets B12 shots from the doctor. So I have been taking extra B12 vitamins for over year. Plus, because we were trying to get pregnant I was taking prenatal vitamins for months before we got pregnant and before that I was taking extra folic acid vitamins for over a year. My body has been pumped full of vitamin B for over a year which makes me feel better that it is unlikely our child has a neural tube defect.
Thirdly, the nurse said I had a "single mutation", which the way Dave and I interpret that to mean is that the defect is only from one of my parents, thus making it heterozygous and therefore medically irrelevant. At least, that's what we're assuming.
Lastly, and most importantly, things have been going well. I have made it to 13 weeks - one more week to go until the second trimester. The sickness has subsided and frankly, I feel really good. My body is growing and changing. I truly believe that when something bad is happening in the pregnancy that your body has a way of telling you things are not going well. Like you would be extra sick or you would have pains or fluids that were not normal. To date, this pregnancy has been pretty easy.
If you're the praying type, say a little prayer for us for our upcoming appointments. If you're not the praying type, just offer up a thought. We appreciate all the positivity directed towards Poppyseed (that's what we call the baby).