Information - Not Necessarily Good

There’s so much information out there about this MTHFR thing. I think I’m officially compound heterozygous - I have one copy of each type of mutations. I got the lab report: “This patient’s sample was analyzed for the MTHFR mutations C677T and A1298C. One copy of the C677T mutation and one copy of the A1298C mutation were identified. Population data suggest these two mutations are not present on the same chromosome, although rare exceptions have been reported. The diagnosis of hyperhomocysteinemia can not rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels [which were normal]. Because MTHFR mutations and their associated risks are inherited, genetic counseling and testing of at-risk family members should be considered.”

For the past two days, the hubs and I have been googling like mad. As all of us IF’ers know, there’s both good and bad about this great world wide web. At the beginning of our research, I focused on the fact that it’s fixable – I can take a bunch of folic acid, an aspirin, maybe blood thinners, and we’ll be fine. It will decrease my chance of miscarriage. I felt relieved, happy, and dare I say hopeful. But the hubs found a completely different part of MTHFR. In a few studies, there is evidence of a link between the MTHFR mutation and increased likelihood of Down’s Syndrome. This makes my hubs a very concerned man.

It has come up once before – the hubs fear of Down’s. But we really didn’t talk about it because there really wasn’t anything to talk about – it was too late to really do anything about it. I was pregnant, and the doc had asked if I was going to do an NT scan at 12 weeks – I wasn’t sure, wanted to talk to the hubs about it. I was leaning towards not doing one at all, because it didn’t matter what the results were, I wasn’t going to terminate the pregnancy. I told him this, and then asked his opinion. He said it didn’t matter, because I had already made up my mind. He acted a little pissy about it, and I knew – he would terminate if it was up to him if the baby had Down’s or something like that. But I didn’t want to talk to him about it – just didn’t want to get into it about something like this. It’s not like I was going to change his mind, and frankly I didn’t want to know how he felt about our baby if by chance it did have Down’s or something. Didn't really matter though - I miscarried about a week later.

Down’s doesn’t scare me – if our baby had it, it wouldn’t bother me, it would be just something that we now have to deal with. But I think the hubs is not ok with it. He told me last night “I don’t think I could handle it right now.” So when he found the research that there might be a link to a higher prevalence of Down’s, he freaked. He wants to talk to the doc, he wants to talk to experts in the field. I think he would like to talk to the people who ran these studies! But he definitely wants to wait to do an IUI or anything until he feels comfortable about our odds of having a Down’s baby.

I talked to a genetics counselor on the phone today – she hadn’t heard of a link between MTHFR and Down’s. Who the heck do I talk to now? We have our appointment with our RE on 8/23, but I’d like to set up an appointment with someone else as well – an “expert” in this stuff. Must do more research…

Neither of us mentioned in our conversation that I might already be pregnant… Yeah right, can’t believe I just said that. The likelihood is so small, given my history. Oh, but there’s also a study which states that MTHFR is linked to very early pregnancy losses – before they can be registered on a HPT test, so this can be an explanation for many cases of unexplained infertility. Maybe that’s been my problem – how quickly does taking the additional folic acid take effect? (FYI, they prescribed Folgard 2.2 – take twice per day) Anyway, there’s a lot of information out there, and I don’t know if we’re helping or hurting ourselves. The hubs is completely on this Down’s kick now, and I think he’s worked himself up into a bad place – how do I make him feel more comfortable? Perhaps IVF with PGD? In case anyone wants to read about this stuff, I found this article on how to prevent Downs. Feeling overwhelmed…

BTW, the 1 week wait commences today…