MTHFR Gene Mutation

bohemianbeauty7 · November 2009

Hi ladies-

I should really put my story up on my profile. But long story short...I've had two miscarriages in the past nine months. I would be having my first one in the next couple of weeks. First one was blighted ovum discovered around 11 weeks, lost around 4 or 5...Second one was at 9-10 weeks.

I just found out that I have a thyroid issue which I'm now on meds for.

Also just found out that I have a mutation on my MTHFR gene (DH and I have a silly nickname for it...if you can guess what it is....)

I am heterozygous for it. I have one mutation on my C677T gene and am normal on my A1298C gene.

I've been reading stuff online that says that some people feel there is a link to miscarriage with this gene mutation. Other places say 50 percent of the population has it....I don't know. I know it's worse when you're homozygous or compound hetero...

Anyone have this gene mutation? Advice? Thoughts?

We are so desperate to have a baby. I waited until I was 30 to start and now all this trouble...and I am so petrified that I'm going to have another one. I'm worried this could possibly be part of my issue along with the thyroid stuff.

611bride05 · November 2009

I am guessing that I have the same nickname for it! I had an early m/c and asked to be tested specifically for MTHFR- I am high risk for a different reason so my peri easily agreed. I was only tested for that one disorder and came back homo for it (double gene). So I am no expert but I think it is very common for people to have one gene but less common to have the double. From my understanding increased folic acid is very important with this condition. It is controversial as to whether it is linked to m/c or not. When my peri got my results he told me that I would go on lovenox as soon as I got my BFP- we did and had DS last summer!

Now unfortunately they are saying that the medical thinking around MTHFR has changed and I do not need to be on the lovenox So I just had my second loss last week, and I think when I get my next BFP I will be begging for the lovenox again.

HTH

ala_1220 · November 2009

Ha...I have the same nickname for it!!! I don't know which type I have. All I know is that I tested positive for it. My doctor didn't give me much information about it and what the plan was the next time. I was told by the doctor who did my D&E that I need to start taking a baby aspirin a day and would probably never be able to get on BCP again. My regular OB told me, "we are not really sure if the baby aspirin really helps, but it won't hurt if you want to continue it." Hell yeah I'm gonna continue it!!! I'm kinda aggravated that she hasn't followed up with me yet about it. If she doesn't soon, I'm thinking about looking for a new OB.

BirdieBrd · November 2009

I don't post on here...well I have a few times but it's been awhile.

Anyway I was just diagnosed with MTHFR. My Dr tested me on a whim (only had one m/c) and she was surprised it came back positive. She put me on baby aspirin and 4mg of folic acid a day for life.

She said MTHFR could possible explain my m/c and could be the reason why it's take so long to conceive.

ETA: I don't know which mutation I am.

BirdieBrd · November 2009

Also, here's some info I found that helped me understand more:

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1.) most significant = homozygous for C677T
2.) next most significant = compound heterozygous
5.) least significant = heterozygous for A1298C

I know that "homozygous for A1298C" and "heterozygous for C677T" are numbers 4 and 5 in terms of significance, but I can't remember which order...

These mutations are associated with blood clotting, and a tendancy for your blood to clot up in the teeniest, tiniest blood vessels in your body. And guess where those are... the uterus. So, YES, that could be the reason for your two miscarriages (I'm so sorry to hear about them.) But, if you take the baby aspirin and Folgard, and *possibly* Lovenox (low molecular weight heparin) you are NOT at risk for additional miscarriages, any more than the average woman (remember, first-trimester m/c's can be caused by a variety for factors unrelated to the mother.) If possible, I highly recommend seeking out a consultation with a reproductive immunologist to clarify whether other tests are needed or Lovenox should be prescribed.

Dr. Beer's rule of thumb is that for one copy of one mutation, you take 2.2 mg of Folgard (prescription Folic Acid... just taking over-the-counter Folic Acid won't do) and for two copies, whether they are of the same mutation or different mutations, you take 4.4 mg of Folgard. This is for the rest of your life, not just related to fertility. YOU ALSO NEED TO TAKE ONE BABY ASPIRIN EVERY DAY for the rest of your life.

There is no risk of birth defects related to this mutation as long as you take your prescription Folic Acid.

mrsmacias2008 · November 2009

kind of in the same boat as birdie...

I got tested and was postive for a single gene. You have to get on meds/blood thinners I guess if you are positive for both. I always get on folic acid and baby aspirin right away. My problem is just my cervix.

KarlsSweetie05 · November 2009

When I found out that I had double mutation, compound hetero, for MTHFR. Dr put me on Folguard and daily baby asprin and said to take the rest of my life. It will help prevent strokes in later years.

Did more extensive, special testing and found out I had several more blood clotting disorders and was put on lovenox (injectible blood thinner) too for this last pg.

I also have thyroid issues.

ping1080 · November 2009

I have the same mutation as you and was told to take 3mg folic acid (in addition to my pnv). I have also seen a hematologist who agreed that there is really nothing else to do, unless it is accompanied with another clotting disorder and/or elevated homocysteine levels. HTH

monica92603 · November 2009

we have the exact same dx. (no thyroid issues here though so I don't know anything about that). It is the only thing I was dx w/ so far and am waiting to make sure my homocysteine levels are ok which both my genetic counsellor and MFM specialist believe will be fine. Make sure they check you for this b/c THIS will be the reason they would put you on blood thinners during pregnancy or not. If those levels come back normal, then I'm fine.

Yes, a huge part of the population (like 40%) has our dx. It is one of the lesser serious versions of the mutation. It is very controversial if it needs to be treated during pg or not b/c it all depends on which exact mutation one has, your homocysteine levels and also if it is combined w/ any other clotting disorders.

My late loss had absolutely nothing to do w/ the MTHFR but my OB wanted me checked and rechecked for anything she could think of. Turns out this one and only thing came up. My MFM specialist said I could take baby aspirin during my next pg if I wanted b/c it wouldn't harm the baby, but didn't believe it would do anything except make me feel better.

I'm so sorry for your losses. Have you considered meeting w/ a genetic counsellor or MFM specialist to see if they have anything to offer? They would probably be able to tell you if the thyroid and MTHFR (combined?) have anything to do w/ you losses.

Best of luck to you.

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