Can someone explain MTHFR to me?

[blueyezz4]

So I just got some of my blood work back and it says that my MTHFR is positive.   I just thought before I head to Google to start doing some research I'd see if any of you have any info to share on the matter and if you have it, how it was treated and did it actually help you to carry a healthy pregnancy?  I'm hoping this is the one puzzle piece that has been missing for us. That would be so great!!!  TIA!!!

[MarineWife]

I'm not sure what MTHFR positive means. I was diagnosed with a homozygous double mutation of my MTHFR gene. That means that I have two identical mutations on that gene. You could also have a heterozygous mutation, which means two different mutations, or a single mutation, which obviously means only one mutation.

As far as I know, a mutation on this gene may interfere with folic acid absorption and might be associated with a blood clotting disorder. The research is not clear on any of that. When I was first diagnosed my doctor told me that the research seemed to indicate that it could be a problem only if it was associated with another blood clotting disorder like Factor V Leiden. If you only have the MTHFR gene, blood clotting is probably not a problem. However, she told me to take low dose aspirin as a precaution since it wouldn't hurt anything. I have since seen a MFM doc who didn't seem concerned at all about the MTHFR mutation. He said new research doesn't support the idea of it causing or being related to a higher incidence of miscarriage. I still take the low dose aspirin now that I'm pg again because I took it when I was pg with my 2nd and 3rd children. Whether or not it actually helps me, I can't say because I also take progesterone and metformin for other possible problems.

For the folic acid, I was prescribed mega doses of folic acid. On top of the 800 mcg that is in a prenatal, I was told take another 3200-4200 mcg for a total of 4000-5000 mcg (4-5 mg) folic acid. This pg I'm only taking around 2400 mcg total folic acid because I have new doctors who don't think it's critical. I tried taking more with OTC folic acid but I have difficulty swallowing the pills so I've been slack about it. I hope it's enough. I've had 2 successful pgs without out and 1 with so, again, I don't know if it really makes a difference for me but it won't hurt. It's virtually impossible to OD since it's water-soluble and any extra will just get flushed out of my body.

Since I also have PCOS and possible low progesterone luteal phase defect, I take metformin and progesterone supplements as well. I can't say whether any one of those makes the difference or if it's the combination. I had one successful pg 20 years ago with no extra meds or supplements. My 2nd successful pg occurred spontaneously after 1.5 years of natural TTC and 6 months of ART (The ART didn't work.) after I started taking metformin, progesterone and low dose aspirin (self-prescribed at that point). I did not take extra folic acid then. I had 3 miscarriages between successful pg#2 and successful pg #3. When I got back on the complete combo of all of those meds and supplements I finally had another successful pg. After that one I again had 3 miscarriages and again was not taking the full combo of the meds and supplements. Once all the full combo again, it appears I may have another successful pg. I'm 11w now, which is past the latest of my miscarriages.

To sum up, for just the MTHFR homozygous double mutation I was prescribed 4-5 mg of folic acid a low dose aspirin. Whether or not that is what actually did the trick for me I cannot say because I have other issues and appear to require other medications in addition to those to sustain a pg.

[blueyezz4]

MarineWife - Thanks so much for the info and sharing your story!  My paperwork says MTHFR Heterozygous positive.  We will see what my RE says when he gets the info.  I just got the news from my OBGYN today and need to fax it to my RE tomorrow.  Thanks again for sharing and I hope all goes well for you with this pregnancy!  Sounds like you are on top of things, so that is good!!

[MarineWife]

Your welcome. This is probably obvious but I didn't really say that I think each different type of mutation can mean something different. I don't know which, if any, is better than any others.

[blueyezz4]

Well, I spoke with my RE today and he said he doesn't think that this is the reason why we have lost our babies.  Crap... I was really hoping this was our answer.  He did say I could take a baby aspirin with TTC and once we get pregnant again if I wanted to.  Just thought I'd update real quick.

[isabchi]

I have MTHFR hetero.and the docs. also told me that was MTHFR and my multiple miscarriages. I  made my own research and  started to taking  4000 to 5000 mcg of Folic Acid including the Prenatal Vit and B Complex. Also I took Q 10. I opposed to take to Baby Aspirin, sorry,but  personally I never like aspirin and I'd to focus more in the nutrient deficiencies. After that, I have to very healthy babies with a miscarriages in between them when I was lax in the Vit.ingest..So I'll never know 100 % for sure what works and what not.

Edited by isabchi - 1/16/11 at 4:00pm

[MarineWife]

I'm sorry you didn't get an answer. That's so frustrating but not surprising. FWIW, the MFM doc I saw said that it's actually better if they can't find a definite reason. Most women who have RPL without a known cause do go on to have a successful pg eventually. It's the eventually that's so hard to deal with when you want a baby now and have been through so many losses.

I take the low dose aspirin (it's not really baby aspirin since you aren't supposed to give it to babies, right ). It's supposed to help with blood flow to the uterus and baby in case you have a blood clotting disorder. I've known enough people who've taken it without issue (including myself with my last two successful pgs) that I feel safe doing it. If you aren't comfortable with aspirin, which is only dangerous in the last few weeks or months of pregnancy, you could try maca. I used to have a website bookmarked that had groups of supplements to try for different problems. I lost all my links so I don't have it anymore but I can try to find it again. I can't remember the name of it off the top of my head.

[MarineWife]

Here it is:  Natural Fertility Shop http://www.naturalfertilityshop.com/. On the left under Fertility Solutions herbs and supplements are grouped according to specific issues. There isn't anything for MTHFR mutation but there is something for RPL.

It's not maca for blood clotting. It's Zymessence. I never tried that because it's expensive but maybe it would help. It's supposed to be safe because it's just natural enzymes. Of course, you have to trust the source. I'm not endorsing their products. Just passing along the info.

[blueyezz4]

Marinewife -  thanks for the info I'll have to take a closer look at it.  I was actually just put on some new vitamins, even before I found out about the MTHFR, that are suppose to increase blow flow so I'm thinking that plus maybe extra folic acid might be the trick.    Thanks again for all your input!!

[mariacm]

Blueyezz - Just wanted to chime in.  My sis is heterozygous for MTHFR defect.  That means 2 diff gene mutations, one bad copy of each.

As a pp said, it means that you can't absorb folic acid well, which means you can be constantly deficient, which can cause prob for baby's development and risk of blood clots during preg, and if severe, can potentially cause prob with blood clotting in yourself.

 She found out bc she had a stillborn at about 17 wks I think and they did testing after to see why.  The found a clot in the placenta so they did the blood tests on my sis for a cause for the clot.  They found the MTHFR thing and her doc told her that was the likely cause for the clot and therefore the preg loss.  She had 4 kids before that,  no problem, and has had 2 since.  The last 2 preg, her doc had her on Folgard Rx 2.2 which is a prescrip b complex (he believes it works better than the generic, and it is a diff combo of amts than you get in generic) and on Prenate Elite prenatals, which have a total of 1000mcg folic acid, of which 600 mcg is a patented formula that is supposed to be better absorbed.  He said he wouldn't do heparin shots normally for heterozygous, unless there were multiple losses.

Before I ttc, I was tested and I'm also hetero.  I went to a hematologist for the testing and he said he wouldn't worry about blood clotting in general and would do a wait and see for preg - ie. he would have me get preg, if it went well, do nothing different than for anyone else.  If I miscarried, he'd do heparin shots for the 2nd preg.  Well, to me, every baby/preg is important and I wouldnt' want to risk losign the first if I didnt' have to.  Generally, he said the research wasn't clear about how it affected preg.

After that, I went to my sis' OB/GYN, and he put me on the Folgard and Prenate Elite also, preventively.  I took the folgard for months before ttc, and I took the prenate elite once I conceived (just didn't get around to asking for the script in advance that time).  My preg was fine.  This time, I asked for the scripts a couple months before ttc, bc you are supposed to make sure your folic acid levels are good before conceiving since it's so importnat in the first several weeks for baby's development.  Hopefully, it will continue to be enough for me to just have extra supplements.

Best of luck to you, and feel free to PM me if you have more questions!

ETA: The gen rule I've heard is that you should take 2 mg of folic acid for each mutation you have, so I take a total of 4 mg, bw the prenatal, the Folgard and 2 generic tablets (you could also do 2 tabs of Folgard and no generic).

[blueyezz4]

Mariacm -  Thanks for the info.  It is so good to hear others stories and what they have done that works.  I am MTHFR Heterozygous but with one gene.  You said your sister was the same but with two right?  Anyways, when I talked to my RE about the whole thing he didn't even bring up the folic acid issue at all just talked about how he didn't think it was our issue, but I could still take a baby aspirin just to be safe if I wanted to.  I think I will ask him about the folic acid the next time I talk to him and see what he says.  Did your insurance pay for that prescription for you?  I'd assume they would.  I did just buy today a Folic Acid that has 600 mcg (my prenatal has 800mcg and i also take a B complex that has like 400mcg in it as well) the folic acid also has B 12, fish oil and DHA (omega 3 i think it is)  It sounded like a win win for me.

Don't you hate that whole "lets just wait and see" thing!!! That makes me mad.... Doctor, How about we just put a plastic bag over your head and tie it real tight and just wait and see if you die from not being able to breath!!!!  That makes a lot of sense... HELLO!!!  Why make us women suffer all of these losses just to wait and see what works!?!  Ughhhhh!

??  So if I carry one gene and am MTHFR Heterozygous and if for chance my DH would also carry one gene then could that be an issues for our future child and in that case I should be on increased folic acid and aspirin?  Is that right, this whole gene thing kinda confuses me a bit.   Has anyone has DH checked or is it only a female thing?  Maybe it wouldn't matter since it would be my body and I'd be the one carrying the baby.

Edited by blueyezz4 - 1/16/11 at 4:00pm

[MarineWife]

My insurance does not cover the Folgard prescription because it's a vitamin that you can get OTC. I pay $16.00 for it, I think. That's for 60 pills a month. I tried just using the OTC folic acid because it is cheaper but I can't swallow those pills. They get stuck in my throat. Makes it hard to take what I need when I'd have to take 8 a day. I may have stingy insurance, though. They do cover prenatal vitamins but I get those OTC because I like the Rainbow Light ones.

I don't really know if whether or not your DH has a MTHFR mutation would make a difference. My dh had karyotyping done a long time ago. Everything came back normal. I'm not sure if that would pick up a MTHFR mutation. I don't think it's an issue that the baby might inheret the mutation and not survive, though, which might make whether or not your dh is a carrier important. It's an issue because you having the mutation may mean that your body doesn't work properly at nourishing the growing embryo. Does that make sense?

[mariacm]

MarineWife is right - as far as I understand, your DH having MTHFR would not affect the preg.  If he did have a  mutation, it could mean baby has more chance of having it him/herself, but that wouldn't be an issue during preg, just maybe later in life for him/herself or if it's a girl, for her future pregs.  I'm not worried about that, and haven't pursued testing for DH.  I just want to do all I can to prevent preg losses, so treating myself is what needs to be done.

My ins does cover folgard.  There is no actual generic - ie there is no copycat version with the same amts of each vit that Folgard has.  You'd have to get several pills to make one Folgard. The b complex ones don't have enough of the other B's to match folgard.  Trying to imitate it myself would mean like 6 folic acids (which are tiny but hard to swallow bc they're not smooth) plus a couple b12 and b6.  Folgard has: 2.2 mg Folic Acid, 25 mg B6, 1 mg B12.  My ins pays for the name brand since there is no generic.  The copay is like $15 a month for me, I think, but it depends on the ins you have.  My ins also covers the Prenate Elite since they're prescribed, but they are $$ - $40 a month for me.  I'm willing to pay it bc of the MTHFR thing and the fact that my doc said he believed their metafolin folic acid was more absorbable.   

The doc also said that folgard works better bc of the combo of the right amts of each B vitamin together - one helps the other absorb, etc.  So if you don't get folgard, try to match it and take most at the same time.

[blueyezz4]

MarineWife - I also take Rainbow Light pre-natal vitamins and have for years.  An acupuncturist  recommended  that brand and I've never switched.

For now I think I'll keep taking the vitamins which give me more folic acid and then the next time I talk to my RE I'll ask him about Folgard and see what he has to say about taking it with a baby aspirin as well.

[MarineWife]

blueyezz ~ I hope it's ok if I ask my own question here.

For those of you who are or were pregnant and taking Folgard and low dose aspirin, did you take them throughout your pregnancy or did you stop at a certain time? None of my current HCPs know anything about this stuff. I had to tell them what I needed and why. So, they don't know if/when I can stop taking the stuff and I can't remember.

[blueyezz4]

Originally Posted by MarineWife 

blueyezz ~ I hope it's ok if I ask my own question here.

For those of you who are or were pregnant and taking Folgard and low dose aspirin, did you take them throughout your pregnancy or did you stop at a certain time? None of my current HCPs know anything about this stuff. I had to tell them what I needed and why. So, they don't know if/when I can stop taking the stuff and I can't remember.

Sure!!!  Ask away!!!  I LOVE learning from other people's questions!!

[mariacm]

I never took aspirin, nor did my sister.  We both continued the Folgard throughout the entire pregnancy though, as recommended by her OB.  And as a PP said, it's pretty impossible to OD on folic acid/B vitamins, so if you did have too much at some point, you'd pee it out, as I understand. 

As a side note, when I first started Folgard, I wasn't preg or TTC yet.  The OB said it would be good to take it always for general health since the MTHFR causes absorption problems.  I ended up stopping after the preg bc I didn't want to keep buying it bw pregs, but using OTC b complex and folic acid instead.

[MarineWife]

I have a lot of trouble taking pills so less is better. I have always continued to take a prenatal after pregnancy while breastfeeding so I do get some extra folic acid that way.

[blueyezz4]

So refresh my memory here...  did you also take a pre-natal as well as the folgard or no just the folgard/baby aspirin ( i know one of you said you didn't even take the baby aspirin)?  My RE's nurse just called and said I should start on a baby aspirin now.

[mariacm]

Yes, I took a prenatal.  Prenate Elite was the brand, bc it has a different (patented) form of folic acid called metafolin in additional to reg folic acid, and the OB believed that bc of that, it was better absorbed and therefore helped maintain the right levels, in addition to the Folgard.

So my regimen during TTC and preg is: 1 Folgard daily, 1 Prenate Elite daily, 2 additional folic acid tablets.  That equals 4 mg of folic acid total, since I have 2 mutations.

The general rule anyway is to take the prenatal 3 months before the preg and then throughout the preg, so whether it's a normal one or a special one, if you're TTC, start taking one.

HTH!