So, I got the results back from my repeat loss bloodwork. Diagnosis: heterozygous C677T MTHFR (which I can’t help but read as motherf*cker every time), high TPO levels (which are most likely related to the thyroid problem I already knew I had, but could also be indicative of an autoimmune disease) and borderline ANA levels (which could also indicate an autoimmune disease).
The good news is, the RE feels good about the course of care we’re on. The MTHFR gene mutation inhibits folic acid absorption and he had already proactively put me on an extra dose of folic acid. So we’ll continue that. I’m taking Synthroid already to deal with the hypothyroidism. And the heparin shots I’ve been taking could help the autoimmune disease – if that’s what I have. The doctor wants to run a few more blood tests that may tell us more about the autoimmune possibility, and could also will look at both mine and D’s kareotyping, which could show whether one of us could be genetically predisposed to passing along chromosomal abnormalities (which are the most common cause of miscarriage). The tests are expensive and not fully covered by insurance – and the doctor said we didn’t need to them if we just want to stay the course of treatment and hope for the best. But to me, it was a no-brainer: we’re running the tests. We’ve come this far already – I just want to feel like we’ve checked every box.
So, we go back again on Monday (10 weeks!) for another ultrasound and the blood tests. Then the following Monday (at 11 weeks) we have our first OB appointment. I’m planning to do the NIPT testing with my OB, which will look at the chromosomes of the baby to rule out the major chromosomal defects and hopefully put our mind further at ease (and as an added bonus, we’ll get to find out the sex of the baby at that time too). Depending on the results of the kareotype testing, the RE said he might also recommend an amniocentesis, which I have mixed feelings about. An amnio looks at ALL the chromosomes (whereas the NIPT just looks for the most common chromosomal disorders), and is considered a diagnostic test (NIPT is still just considered “screening” even though it’s about 99% accurate). Problem with an amnio is that it comes with a small risk of causing a miscarriage. It’s only about 1%, but it’s still enough to make me nervous, which is why I’m leaning toward just doing the NIPT unless the RE strongly recommends otherwise. I mean, we’re doing all these tests to figure out why we’ve had miscarriages, and hopefully prevent another one. I’d never forgive myself if during that course of testing we unnecessarily caused another one.
I guess we’ll cross that bridge when we come to it. Onward.