Monday, August 16, 2010

Freak-out Over

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…

14 comments:

  1. I am glad you are feeling better and that you are going to get more information and see a genetic couselor. Just one note, I formerly said the very same thing you did about pregnancy terminations, however, I think I was niave at that point and did not know the possible things that could go wrong (Down's was the only thing I was worried about). My baby was diagnosed with a fatal anatomy defect (zero chance of survival) and everything changed. I have a very different out look now and see the essential need for prenatal testing. I know that the NT scan with blood work can give you stats about your risk level which is used to determine if a CVS or amnio is needed. I hope that nobody has to make these difficult choices.
    Your vacation sounds amazing!! Just what you guys need.

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  2. Perhaps the temp dip doesn't mean anything-- although honestly I think it would be better to enjoy wine and cheese (don't forget lovely unpasteurized cheese!!!) now, and get pregnant next month :)

    I'm super excited for your odds, and your armament of information, for your next round of IUI. VERY very hopeful here.

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  3. "Mother-Effer"! Yep, that's how I read it too. :)

    I'm happy you actually got a concrete thing to try and fix - weird to say, of course it sucks there's anything wrong at all - and hopefully now the folic acid treatment will help.

    My husband feels the same way towards DS. We've never had much cause to talk about it since I've never even gotten pregnant but I know it would be something he would have a very hard time with (but that I would be ok with). I can definitely empathize with you on that one.

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  4. Crummy that this cycle seems to be over, but I am personally already looking forward to getting my drink on, so I'm happy about that for you. And hot damn! Italy!

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  5. thanks for your comment Alex. I hope I am not freaking too many people out with my comments, especially you. My situation is very, very rare, but it has changed my perspective. Thanks for all of your support :)

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  6. Hope the upcoming appointments are helpful. September sounds like a good plan! What a fun vacation. MTHFR reminds me of Mother F*cker too!! HAHA!!

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  7. Yeah, hate that mother f*er!! Glad y'all are thinking of testing and talking to the genetic counselor. And, i hope that luck prevails and the temp dip is a minor blip!

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  8. Ooh your upcoming trip sounds so awesome. My doc says a little red wine is okay. (other things, less okay). Good luck with conversing with hubby about this....

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  9. I'm going to read the paper tomorrow during the day, and I'll leave you any comments I come up with. I'll take a look for other papers, too. If this stands true, there'd have to be more like this b/c it's 11 yrs old at this point...

    I'll be interested to hear if the doc thinks heparin will be the fix for the m/c. Also, do they know if you carry both of the mutations on the same chromosome, thus making your other copy maybe sufficient enough to get the job done? If your homocysteine isn't elevated, though, maybe that does mean both mutations are on the same chr? Hmmm...

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  10. Oh hun, you have been through so much. I truly hope you have an amazing time on your trip. You deserve it. *hugs*

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  11. You have a plan now.. I like plans they always help me calm down and see things in a clearer light. Hope is making you feel less freaked out about the whole situation.. one step at the time always helps (easier said than done... I know!)
    Sorry this cycle didn't work out.. big hugs sweetie

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  12. Alex it's a good plan. I would take the approach of one step at the time. You get pregnant, then you do the first trimester screening (NT and blood tests) and see how the odds change (mine went from 1/230 as I'll be 36 at birth to 1/4600) and take it from there. I agree with you that your odds are good in any case, and in my opinion al this worrying is a bit premature, but I understand the need of planning. Think of your holidays but I can't wait to hear about the genetic consult!

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  13. Sorry about this cycle but I'm glad you get to drink Italian wine!! And I don't think you freaked out unduly....it's so strange any time you find out something is "off" or not as it should be. I'm glad you and your husband have tabled the discussions about Downs and think it's great that you're considering seeing a geneticist. (I did and it was a very good experience.)

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  14. Never appologize for a freak out! That is what blogs are for, right?
    I am glad that you are finding more information, in less than a week you can sit down with your RE and make a plan.
    So excited for you to go to Italy! And drink amazing wine, I am jealous.

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