Monday, March 11, 2013

Skinny Genes - Part Deux

Today was a fun visit up north to good ole' JHH.  We met with specialists in genetics and maternal-fetal medicine to discuss pregnancy outcomes, and the results of our genetic screening.

Turns out that Hubs and I have pretty clean genes for your average humans.  None of our genes are predisposed to combine to make a baby-time bomb, or one of the several "scarier" genetic problems that can occur in a pregnancy.  Hurray!

We did take this additional panel of tests to determine if we are carriers of any blood-related disorders, because of Little Man's medical history.  Obviously since Little Man has a different father, his problems would be from that combination of genes and not Hubs/My genes.  But it was something we looked into nonetheless.  And that panel actually did turn up a few things for the Hubs and I.  Nothing concerning for Baby Vegas, because A) It's a done deal, he's already cooking in there, and B) There is really not too much to be freaked out about.  I carry a gene that ups my risk of a baby having neural tube defects by .01%... So I am advised to take more folic acid before pregnancy and in the first trimester.  A little late for that now, but it would be helpful in the future.  But that it is it as far as major concerns for this little fetus.  We will be getting extra ultrasounds to keep checking the baby for any potential bleeds, but we should be able to have a natural birth without any concerns.

Me on the other hand - I've got some "ughs" to deal with now.  They detected that I have this prothrombrin thrombophilia gene mutation.  Which means I have to be on the lookout for blood clots, especially during my pregnancy.  Depending on my doctor's decisions this week, I may have to go on blood thinners during my pregnancy, which would mean daily shots.  I will most likely have to be on blood thinners immediately after delivery and post-partum.  Yuck.  So I am still a high-risk pregnancy, and would continue to be in that category for future pregnancies.

I am more than a little freaked out by all this new information, and I am still processing what it means for us now and for future pregnancies.  I think I am okay.  I'm trying to be okay.  In the grand scheme of things, this is not that bad.  Just gotta keep reminding myself that there were a million more things that could have been wrong, and this is not. that. bad.


  1. Yay prothrombin friend!!! I have antiphospholipid syndrome, take lovenox 2x a day when pregnant (and for about 2 months after delivery.) What disorder do you have specifically? It actually is a big deal, and I hope you get hooked up with a hematologist soon! We lost our first baby because I wasn't on enough of the bloodthinners. Please get in touch if you have any questions! I'm on my 4th blood thinner pregnancy :)

    1. They have only called it prothrombrin thrombrothelia, or a prothrombrin gene mutation. The specific mutation puts me in the medium risk category as far as blood clots, so they aren't sure if I will need any meds or not because I have never had any symptoms and would not have even known about this mutation had we not been tested. So hopefully I am just going to be watched closely, and not have to go on blood thinners now. But we'll see what the docs say tomorrow at my next appointment :) I actually had just talked about you with Hubs because I knew you had been taking blood thinners too!!

    2. Do you have the MTHFR mutation? I know that's a common one. I actually have that too, in addition to my syndrome. But, the MTHFR mutation "just" puts me at a higher risk for neural tube defects, because it causes a folic acid deficiency. I take folic acid all the time, just in case I end up preggo :) Good thing, because this baby was a surprise! I really hope you get good news, and that you're not clotty enough to need the thinners. But, if you do, I assure you that you get use to it.. it's second nature for me now, and I have to do 2 a day because of all my risk factors. (I've lost a baby and I've had a clot, in addition to the syndrome)

    3. I do! Unfortunately I didn't know about it til 14 weeks in and so wasn't taking any extra folic acid, but hopefully my prenatals did some good work on those neural tubes.

      I got great news at the doc's and I wrote about it... I am so relieved, although I know I could've handled it I just really was not looking forward to it. :) You are so awesome for being able to do all that with 3 pregnancies now and I give you all the Mommy Awards!!! :) :)