Sometimes I think to myself, having Marfan is booooring. I need something new to spice up my life. Being pregnant with a rambunctious toddler who now needs speech/language therapy clearly isn’t interesting enough.
But a new diagnosis? That’s what I’m talking about! A few weeks ago my MFM/OB decided that I ought to have some blood work done to check for various thrombophilias, “just in case.” He admitted there was no logical reason to do the testing (the only blood clot I’ve ever had was naturally formed from a surgical complication) but thought I should have it done to be safe (as I’ve mentioned before, he’s nothing if not cautious.) I’m ok with an extra blood draw.
On my last leg home from a Memorial Day weekend trip I checked my voicemail to learn I needed more tests run. I had a sinking feeling I knew what that meant. But in true hospital style, the nurse had no real information to give me, other than I needed another test and needed to go on another medication. I went to Google and Twitter, figured out my diagnosis that way, then called the hospital back Monday morning with my suspicions and asked for a confirmation.
I tested positive for the heterozygous MTHFR mutation, one of the mutations that is classified as a thrombophilia (disease that causes blood clots). Luckily, I’ve learned that since my subsequent test came back normal I’m not at a big risk for blood clots. As my MFM/OB said “of all the things you have to worry about with this pregnancy, this is the least of them!” (I suppose that’s comforting, right?) I was really relieved. Conference is less than a month away and I was afraid I wouldn’t be able to attend, since I have to fly to get there. Yah, yah I know conference is not the most important thing, obviously the health of myself and the baby comes first, but I would have been extremely disappointed to have had to stay home. So, now I can fly up to 25 weeks of pregnancy.
Usually MTHFR doesn’t have any symptoms, so people don’t know they have it unless 1) they develop a blood clot, 2) they have multiple miscarriages, or 3) their doctor randomly tests for it like mine did. I’m glad he tested!
My fingers are crossed this is the last complication in this pregnancy. I’m so thankful it’s turned out to be a relatively minor one, but it was an incredibly stressful week or so while I waited to take the 2nd blood test and to hear what the doctor had to say. Now I just take 5 pretty pills a day.
* M. is headed in for two evaluations this morning, one for the suspected cognitive delays and one by the county, to determine eligibility for services. Please send accurate evaluation vibes, and that we’ll be accepted for services!