What the heck is wrong with me anyway?

So after losing 2 babies in the second trimester in 6 months, my doctor and I decided maybe we should run some blood tests “just in case” there is something up with me that we don’t know about. We got a few answers this past week and there are still more tests that have to be done and referrals and unknowns to deal with. My fantastic doctor, I really mean that and I’m a hard girl to please, called me Tuesday night at 8:30pm to discuss my labs with me because he was going out of town. I can’t say enough about how happy I am with my doc (and this coming from a L&D nurse who had a homebirth…I really am tough to please).
Here is what we know, what we don’t and where we go from here…

I have 2 genetic mutations that affect my ability to clot blood. One is called Factor 2 mutation. We each get 2 copies, one from our mom and one from our dad. I have one normal copy and one abnormal copy, which means I am called heterozygous. In a nutshell it increases my risk of developing blood clots, especially during pregnancy. Here’s a link that goes over it pretty simply…http://circ.ahajournals.org/content/110/3/e15.full
Factor 2 makes fibrin to make clots along with platelets. My factor 2 works kind of in overdrive.
There are some other tests that need to be done to determine how we’re going to treat this for future pregnancies. There are some liver proteins (called Protein S and Protein C) that need to be evaluated at the end of June (when the pregnancy hormones are out of my body). The most likely treatment for this issue will involve blood thinners during pregnancy to decrease the likelihood of clot formation in the placenta and umbilical cord.
The other genetic mutation is called MTHFR. We all have 2 genes that code for this and we get two copies of each gene, one from our mom and one from our dad. I have an abnormal copy and a normal copy of each set of genes, which makes me compound heterozygous for this condition. We have another blood test to determine if I have another complication associated with this condition and complicates the long term outcome for me. We will be looking specifically at my homocysteine levels. The higher the level, the higher my risk for cardiovascular disease, stroke, hypertension and neural tube defects in babies (none of my kids have had these). It is treatable with extra folic acid and another medication.
So basically it’s this…I have 2 heterozygous genetic issues that both can cause complications during pregnancy but can be treated if we know how severe they are. It also means that I could be prescribed a baby aspirin every day for the rest of my life and then get injections of blood thinners while I’m pregnant. I would also require closer monitoring during pregnancy. There are some hurdles to cross if we get to full term at the time of birth. Some physicians insist on an induction at 39 weeks (this can’t happen for me because I have had 3 c-sections), but a surgical birth isn’t the ideal option either.
There are more labs that need to be done to have a full picture of what we might be dealing with and how it will affect future pregnancy management. I have to wait until my body knows it isn’t pregnant before we can draw those labs. I am going to have those labs drawn at the end of June and then I will be referred back to maternal fetal medicine and also to a reproductive endocrinologist for evaluation.
It isn’t uncommon to have uncomplicated pregnancies and then be diagnosed with these issues afterwards when other complications arise. It does mean that I need to 1. lose weight (being over weight increases my risk of blood clots). 2. Not take hormones (birth control pills, hormone replacement) ever. 3. Decrease any cardiovascular risk I have (eat right, exercise etc).
The doctor also mentioned that I need to have my platelets (the other pieces in my blood that clot with the factor 2) checked to determine if I have an autoimmune disease called ITP (Idiopathic thrombocytopenic purpura). My platelets were normal in early pregnancy but abnormal when I was admitted to the hospital. It is possible that the ITP is only active during pregnancy OR that my platelets were used up making clots as part of the factor 2 issue prior to the losses (which is the most likely scenario).
So that’s what we know and what we don’t. The blessing is that it can be treated, although it complicates things a bit. The additional lab tests in a few weeks will give us more information and I’m praying that God will give my doctors wisdom and willingness to help me have as “normal” of a pregnancy and birth (Lord willing) as possible in the future. I had such and awesome homebirth the thought of not being able to do it again, makes me a little sad. I’m hoping that there will be some way to help it happen again.

One thought on “What the heck is wrong with me anyway?”

  1. I hope you get to have have the birth of your dreams dear! It sounds like you have a great doctor, now with a little hope… I will be sending good vibes your way.

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