First, I need to apologize for my freak-out last week. I tend to do this – take something that I find, or the hubs finds, and have it escalate into something else… He and I have tabled our conversation about the MTHFR and Down Syndrome thing for a bit – or at least until we meet with our RE next Monday – one more week to go! But I’ll share some of the research that I’ve found. The risk of having a DS child for a 35 year old is 1 in 400, according to this NIH webpage. Here is the link to the study that was the first to make a link between those with MTHFR mutations and DS. No, it did not test for folic acid supplementation above 400 – I’m taking 5,200 now, and whether it can help with decreasing DS for those with the MTHFR mutation, and there’s been evidence that increased folic acid will help with neural tube defects, and some people think it can help prevent DS as well. Without any high amounts of supplementation, according to this study, which has been affirmed by a couple others, the odds ratio, or increased risk of DS for a heterozygous C677T mutation is 2.5, or it’s 2.5 times as likely for a person with heterozygous C677T mutation to have a DS baby. For homozygous, it’s 3.2 according to this study. And combined, 2.6. It didn’t look at the A1298C type mutation. So based on this, I have at least a 2.5 times more chance of having a DS baby, or 1 in 160. I’m good with these odds – not sure about the hubs. As suggested by a few ladies, I will suggest that we go to a geneticist to talk about the odds. First though we’ll talk to our regular RE, and talk about the plan to reduce our chances of a miscarriage – one week from today. Also, we’ll lay out the plan for next step treatments, which will likely be another round of IUI’s with injections.
And yes, I also think of Mother F*cker every time I read it/say it/whatever. In conversation, that’s how we discuss it – it’s a Mother F*cker!!!
Also, I really like the suggestion of doing all the testing once I get pregnant. Not sure if this will just be the NT scan, or if we'll also do CSV testing - that's a bit more instrusive, and creates a risk of miscarriage, so I don't know if I would want to do that, but we should discuss it. I know I wouldn’t do anything about the pregnancy (terminate) if there was a problem, but it’s likely that there isn’t a problem. And so I’d like to be able to give the hubs some peace of mind for most of the pregnancy.
So the plan is to try to get more information from the RE and a geneticist, and then start treatments in late September when we return from our vacation in Europe. My temps dropped today, so it doesn’t look good for this cycle – I don’t know what I was doing, hoping like I was. But at least I’ll get to drink all the wine I want in Italy! Oh, how I was wishing there would be no wine…