*TW* Ladies w/ MTHFR gene mutation - what circumstances led you to find out you have it? — The Bump
Trying to Get Pregnant

*TW* Ladies w/ MTHFR gene mutation - what circumstances led you to find out you have it?

cl86cl86 member
Name Dropper First Comment Photogenic
edited December 6 in Trying to Get Pregnant
Hi ladies,

For those of you ladies who have been diagnosed with an MTHFR gene mutation, what were the circumstances that led you to discover that you had it? I would like to be proactive in finding out whether I have it, but I don't know if I'm being unreasonable in requesting testing for it when my RE doesn't seem too concerned that I have it.

Just for some background info, I joined this forum a little over a month ago when I found out I was pregnant, but unfortunately, I suffered a miscarriage shortly thereafter at about 6 weeks. I may have suffered an additional chemical pregnancy or two during the two years we've been TTC (I suspect based on my symptoms, but I didn't test, so I can't be sure). I recently revisited my RE after taking a year-long break from fertility treatments. The pregnancy we lost last month was actually conceived completely naturally, but I wanted to return to the RE to do some additional testing in case it could shed any light on why I may have miscarried (although I know it's entirely possible that it was just a chromosomal defect that couldn't be helped). My doctor didn't tell me exactly what type of blood tests she would run, just that she was going to check for some potential blood clotting issues. I looked over the lab requests she submitted on the office's online portal, and it appears that she requested a bunch of different tests, but none of them are for MTHFR. From what she said, I assumed an MTHFR test would be one of the tests she would request from the lab, so I didn't specifically ask for it by name (and I assumed she knows better than I do whether a test is appropriate). Now I'm wondering if I should call the office and specifically ask for the MTHFR test.

I'm curious how others found out they have the MTHFR gene mutation...

Re: *TW* Ladies w/ MTHFR gene mutation - what circumstances led you to find out you have it?

  • ^WSS. @ zamora_spin's answer is spot on.  OP, I am heterozygous C677T (the "best" one to be), which was diagnosed by blood test. *TW* When I got pregnant again, I was immediately put on low dose aspirin, a methylfolate prenatal, and B12. Then I had another MMC, diagnosed at 10 weeks.  So treatment for the MTHFR either did nothing for me or that's not the cause of my RPL. I think it's worth testing for, but I don't know if it's the smoking gun people hope it is - at least I don't think my mild form is.*End TW* Anyway, if you want to be tested, just tell your doctor and they should make it happen. 
  • cl86cl86 member
    Name Dropper First Comment Photogenic
    Thank you both for your responses. Apologies for not following the rules and anyone I may have offended. 
  • keikilovekeikilove member
    100 Comments Photogenic Name Dropper
    edited December 10
    @cl86 I'm sorry for your loss.  Personally, I think MTHFR is a common enough mutation that it deserves its own thread.  I say this because I have also had a hard time finding a good one-stop resource for info on it.  I believe it has much more to do with repeat pregnancy loss than many doctors will admit.  I just spoke with a genetic counselor who said "there is a love-hate relationship with MTHFR in the medical community". There seem to be two schools of thought: the one that dismisses it as insignificant and the other that believes it is something to be treated.  The protocol that Zamora & Ruby listed is the norm from most doctors who do acknowledge it as an issue. You can also add fish oil/DHA to that protocol.  It's not foolproof but it's better than doing nothing. Your body may not be able to convert folic acid (a synthetic man-made form) into the natural form of folate that the body needs. Some say that the folic acid that you can't process then builds up in your body and causes problems, so be careful to switch your vitamins and try to avoid any foods that have folic acid added to them. You can get folate through foods like dark leafy greens but you can also get it through prenatals and specific l-methylfolate supplements.  Lots of people take the Thorne brand which you can order online.  Also, SmartyPants from Target and the Honest Company prenatals all use bio-available forms of folate and bio-available forms of B vitamins.

    *TW*: I also recently suffered a loss and then found out that I have one mutation of A1298C and another blood-clotting disorder called PAI-1.  I was searching for answers & found this in some very old paperwork from a previous chronic illness I had.  My current Reproductive Endocrinologist did not include the MTHFR test in her Repeat Pregnancy Loss panel so you may want to ask for it specifically.  I've joined some info/support groups on FB.  There is one dedicated to families with MTHFR only, and tons of those women have experienced RPL with no other known issues or reasons why.  Those people are convinced that their MTHFR is the culprit for their losses.  But some people say there are many other blood-clotting disorders that haven't even been discovered yet so there's no way to know if that may be your issue.  Ask your doc to run the MTHFR and a complete blood-clotting disorder panel.  Good luck!
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