Trying to Get Pregnant
cl86
member
*TW* Ladies w/ MTHFR gene mutation - what circumstances led you to find out you have it?
cl86
member
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...
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?
To answer your question anyway since MTHFR has been talked about a lot here but probably not lately *TW loss -- I was tested for MTHFR as part of a recurrent loss panel, which was done after two consecutive mc's. It was once thought that MTHFR was a smoking gun for loss and other health conditions. However, it was subsequently discovered that a huge portion of the population has these mutations and largely do not have adverse health outcomes. It is still on the RPL panel but frankly blood clotting and other disorders are much more likely to be the issue if there is one. end TW*
There are two forms of the MTHFR mutation, and people can have neither, one copy of the mutation (heterozygous) two copies of the same mutation (homozygous) or one copy of each mutation (I think this is called compound heterozygous). It's not a problem to be heterozygous. The other combos are more "problematic" but the modern way to deal with them (in the fertility realm) is to have the patient on a methylfolate prenatal (instead of folic acid), and possibly also take extra B6, B12 and maybe baby aspirin. Periodic checks of homocysteine levels can also be done to make sure they aren't too high. That's it -- really that's the commonly accepted worst case scenario here.
There used to be some real smart ladies on the board who could explain this better than me, but now you're stuck with old zamora who just knows to refer you to the chart below to understand how the vitamins interact in your body - basically if you DO have the bad types of the mutation your body maybe has trouble turning folic acid into stuff it can use, so you can help it by taking the supplements I mentioned (most prenatals have folic acid, there are several on the market that have the more bio-available version, methylfolate). Good luck, and please read the thread I posted and lurk a bit, then intro on the newbie intro thread.
*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!