Thursday, August 12, 2010

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…


  1. Did hubs send you the article he found linking Down's and MTHFR? I'm wondering how strong the link is and if it's a particular mutation you might not even have.... Dr Google is not always our friend is it? Hope you get things figured out soon and can put your hubs mind to rest!

  2. Mel, yes, I reviewed the study that links Down's and MTHFR. And it is the mutation I have - I have both. The first study had a sample of mothers of Down's kids, and compared them to non-Down's mothers, and the mothers with MTHFR mutations had a 2.6 times more likelihood of having a Down's kid.

    So this woman Jill James, who did the original study on Down's and MTHFR, has done other studies on MTHFR - she said there's a higher prevalence of autism too! Can't wait to tell the hubs this one...

  3. I've never read or been told about any link to Down's and MTHFR, and I had to do a genetic screen/counseling session with my IVF clinic before they would do the first cycle. And there's a whole section on MTHFR that doesn't mention anything about Down's or autism.

    You can find studies on anything, that say anything. There needs to be a preponderance of evidence to really believe one way or the other.


  4. Just so you know, every time I read the "word" MTHFR, I want to read it as mother f#cker. Am I crazy?

    I am not sure how many IFers feel, but for me, any child is welcome, downs or not. Has your hubby had any experience with special needs children? Maybe a bit of exposure will help settle him a bit. Downs children are just as lovely and beautiful as "normal" children, whatever that means.

  5. I think the SAME exact thing as lookingforaplussign whenever I see MTHFR. And it sure seems like that. I can totally see how you'd feel very overwhelmed. I'm sorry it's so stressful, especially if your DH isn't quite seeing eye to eye with you right now either. As a scientist, I would be curious to see the studies on the link to Down's. In my field there are plenty of "links" that just come down to poor research, so do keep that in mind.

    Hang in there, Alex!

  6. I think you should talk to a geneticist. Genetic counselors will only be able to give you part of the picture but an actual geneticist will have a much better grasp of this.

    There IS a slightly increased chance of Downs with MTHFR (and, according to several of the doctors I've seen, of other trisomies...which might explain RPL in these cases). Some studies say that it's twice the rate as the rest of the population. But keep in mind that the rest of the population has a 1 in several hundred chance (dependent on age) whereas we lucky M*TH**F****R-ed ladies have a 2 in several hundred chance. I understand your husband's concern, but the chances are still relatively low.

    It's a tough one, though, and I know how scary it is to contemplate. This is such a personal decision. And it's tough when you have different thoughts on this.

  7. Here's the questions I have about the research: Could the link to Downs is because of the lack of folic acid supplementation? How many of those women were being treated for the MTHFR before the birth?

    As everyone said, studies are only accepted if the studies can be repeated with the same results. Until then, this kind of thing is only theory...

  8. Alex,
    I agree with Adele, you should see a geneticist. We all know that we can find whatever side of the coin we are seeking on Google. Don't freak out, you are going to get this figured out...

  9. Feeling overwhelmed certainly seems understandable in the face of so much research. Hopefully hubs will feel better once he talks to a few doctors about the links of MTHFR to Down's and autism.

    Google always freaks me out... I have yet to Google anything medical/fertility-related and feel better afterwards.

    I agree with other commenters... I always read MTHFR as "mother f*cker."

  10. Hang in there lovely lady. The internet can be a mile wide and an inch deep at times. I'm rooting for you.

  11. Stay away from Google! I agree with Adele about seeing a geneticist. He or she is going to be much more helpful and informative than any information you get off of the Internet.

    Thinking of you.

  12. While I don't know anything about the mutation, I do have a thought concerning your husband-- perhaps you should agree to a NT scan whn you get pregnant next, to help ease his mind. As everyone is saying, the chances of down syndrome are SO low, that this will very likely just be reassuring to him (which is entirely a good thing), and with no harm done. If, on the very, very, very slim chance that the child is diagnosed witrh Down's, you'll have a lot to discuss. But I don't think it is worth arguing over beforehand, becuase the chances are just so low-- it's like arguing over what you're going to do with the state lottery money that you may win, you know?

    And anything you can offer your husband now (in terms of screening the fetus) will make him less skittish, all the better for you.

    However, I really don't think you need to worry. Apparently MTHFR mutations are extremely common, and obviously Down's is not.

  13. Ugh, I wish we all easier choices. I said the same thing you did about the NT scan/CVS test. Turns out for me, I had no idea what I was talking about until we were placed in that position and given a fatal diagnosis (not Down's so apparently there is alot of additional information that they start to collect from NT scans). I hope you get some reassuring answers soon. I would speak to a solid genetics department too, this kind of stuff is just too complex to leave up to Dr. Google.

  14. I didn't know about the link of MTHFR and Down's. I wonder if the study was randomised across age groups (I believe age matters more). On the autism I read recently a very controversial report that associate the intake of folic acid during pregnancy with autism, but this is one study! not the norm let alone a proven theory. Sending you hugs and i look forward to your next update. love, Fran

  15. Hmmm....I have never read anything about Downs and MTHFR...and none of my millions of Dr's have ever mentioned I am guessing that it is maybe not a very high risk? Or like another girls said were the women being treated for their MTHFR and still had Downs babies? I had two of our losses tested and they came back genetically no Downs....and another question were these women hetero or homo MTHFR?

  16. Will you post the link to the article? My initial thought is that if you have a harder time conceiving (b/c of m/c), then you might have a higher chance of being in the advanced maternal age category by the time you do have a successful pregancy. So maybe a little confounding there?

    And if you can't get access to the full article, leave me a comment. I can get pretty much anything through work/school library.

  17. Dr. Google is not your friend. It's super easy to get worked up. Echoing Leslie on not worrying about it until it happens.

    Also, like Adele said, too, the odds are still good that you and that baby are going to be fine. I have not talked to a geneticist, but after all these comments here am considering an appt myself to ask a lot of the same questions.

  18. OMG sweetie so much for you to take in! Hopefully you can get more detailed and correct information from the doc soon.