MTHFR Gene Mutation.. Questions...

Colleen0516 · October 2016

I recently learned that I am positive for MTHFR gene mutation (thank you @Bai-by2016 for bringing it to my attention!!). It has been 2 1/2 years of trying, and i'm just learning this now. I was tested for over 100 genetic disorders, but I guess this was not one of them. I feel like my first doctor, that ran the blood for genetic testing should have seen this.
I want to learn more about it; if you are positive for it, maybe you can answer a few questions...

When did you discover you had the gene mutation? Initial screening? Later in your journey?

How did you find out? Routine blood work? Multiple miscarriages and then they tested? (When are RE's supposed to test for it?)

Have you gotten pregnant, and if so, have you carried to full term? How did they treat and support your pregnancy?

Now that we know I have it, I am on baby asprin to prevent the clot (or help prevent). If I get a postive BETA, they will be putting me on Lovanex (not sure if its a pill or a shot).
Im nervous that I am high risk for miscarriages now... Ive read that you can have late term miscarriages due to the gene.
I am also struggling that I have had 3 miscarriages, done 4 rounds of IVF and 5 IUI (which arent cheap), lost a Fallopian tube, and struggled to have a baby for over 2 years, and NOW im learning this---I am wondering if some of it could have been prevented if my first RE discovered this sooner. Am I crazy for thinking that? Is it not something they test for?

Thank you for the help!

jodes727 · October 2016

@Colleen0516 here's my journey...

**tw** losses mentioned and children

I started working with our RE in 9/15. It was at our initial lab work that she discovered that I had the gene mutation. She didn't (and still hasn't) made it out to be a big deal, so I never really worried about it. She started me on a baby aspirin and folgaard since finding out. But as I have learned more about it, I am wondering if it is a bigger deal that I think.
We have had 4 losses in the past four years and 2 healthy pregnancies. Two of our losses have been ectopic resulting in the mtx shot and two losses have been early losses. Since finding out about mthfr, I have not had a healthy pregnancy. I am not sure if this is a gene mutation that I have always had, or if it is something that I have developed.
Tomorrow I have my u/s and b/w for my fet (11/3), so I will ask my re about protocol for this mutation when pregnant.

Colleen0516 · October 2016

Thank you for responding! Im on folgard and baby asprin too...I dont know if its a big deal or not either. Nothing is a huge deal, it is what it is, but I do want to know how it affects my chances of getting pregnant and keeping the pregnancy.
My doctor told me I will need Lovanex if I get a postive BETA, has your doctor mentioned that?

jodes727 · October 2016

She has not mentioned Lovanex, but I will definitely be asking her about it tomorrow at my u/s to check my lining. I'll let you know what she says.

oxinfree · October 2016

I'll be on lovenox @Colleen0516 though I believe I'll be starting it prior to transfer. Not sure on the dates yet but can let you know. Check that folgard has folate NOT folic acid. I feel like docs prescribe it because we need higher dose folic acid, but with the gene mutation we can't properly metabolize the synthetic form (which folic acid is) so need the natural form. Just something to check. I'm on Foltanx (non-brand version of metanx).

I have not had a single positive, so can't offer happy ever after, perhaps if you need encouragement join the facebook group: Reproductive Immunology Support as many women there are dealing with MTHFR. Also you could post for stories on success after infertility board.

Big hugs. Hope we both have success with lovenox. It'll be my first time trying that. fx.

Colleen0516 · October 2016

@jodes727 so they did test for it initially? Interesting. I had the genetic testing done, but I guess it wasn't found then- or it wasn't tested for- not really sure.

@oxinfree I was thinking about you when I was told I was positive. I remember speaking with you about it a few weeks ago.

I will look into the folgard! Thank you!

I posted on the Success after IF and Pregnant after IF board hoping to find some more info.
I dont know much about it, and reading on the internet is confusing and sometimes over dramatized. I speak with my doctor on Friday, but im curious to see if I can get more information from girls who are positive too.

@oxinfree When did you learn you were positive? At your initial genetic screening? or mid journey?

omarismyhomeboy · October 2016

Hey! It's nice to see you preparing for another transfer

So I am heterozygous positive for MTHFR (one copy on each of the genes, but the other copy is normal). I had to FORCE my RE to test me for it- because he doesn't really believe its a big deal. After I tested positive, he referred me to a hematologist who ran my homocysteine labs to see if I was in normal range, which I was.

Basically my RE said for me to take baby aspirin and up my folate. I am taking pure folate instead of folic acid. He still doesn't believe this is my problem, though, and I don't really think so either.

I had asked him about Lovenox but he is very opposed (my issue is implantation for the record, not miscarriage). He said clotting is more of a miscarriage problem, not an implantation one, and that Lovenox comes with risks (like if you have some sort of physical injury you'd be more likely to bleed out.) But I know plenty of women on here who see to be totally fine on it.

xx hope this helps.

jodes727 · October 2016

@Colleen0516 they did test me at my initial consult appointment. Thanks for starting this thread too!

oxinfree · October 2016

@Colleen0516 - I only learned it when I went to a new RE who suggested we get genetic screening through recombine and they tested for it along with a multitude of other things (that all came up negative for me), so that would have been in late 2015 or early 2016, I'd have to look up the exact date. We had done 1 fresh ivf and 1 fet prior to that which I had been on folic acid. A lot of REs and docs don't put much stake in it, but I think more and more studies are beginning to show that there could in fact be a link. It's a bit of a mixed bag of opinions really.

my go to resource: https://mthfr.net/

oxinfree · October 2016

@omarismyhomeboy - fyi my issue is implantation as well. We've had 3 transfers each time with 2 embryos with not a single positive. I'm trying lovenox for the first time this go since my RE figures why not. He also thinks it might be overkill, but we'll see if it helps. A lot of women on the board I mentioned to colleen swear that it is necessary. A doctor named Kwak Kim (reproductive immunologist) does a special ultrasound that checks bloodflow to uterus so although our levels may be fine via bloodwork, it may not be flowing adequately enough in the area to support implantation. I think I'm explaining that correctly. Obviously a lot more to it, but thought I'd mention just in case you decide down the road to give it a try. xo

shauna43 · October 2016

@Colleen0516 I have been in your last 2 ivf groups . i also have mthfr mutation . my dr and nurse don't make a big deal of it. they have also told me that research on it suggests that it's not a cause for infertility or miscarriage . so idk i mean you see stuff online saying it cause blood clots but yet alot of re don't beleive it can cause anything . it's like why did u bother testing me. anyway frustrating. in the end i cant be on lovenox or aspirin. good luck i hope the lovenox shots do the trick!

carterh33 · October 2016

I found out I tested positive for the MTHFR (A198C and C677T)last week and because of this my OB referred me to an RE. I have an appointment with the RE 11/7 so we'll see what comes from that. I was tested by a blood test after my second loss. However, I also have a prothrombin factor 2 and hypothyroidism so I can't 100% say my losses were due to the MTHFR gene mutation.
I know of a lady that had two losses prior to learning of her MTHFR gene mutation and once she started taking some different vitamins she now has two healthy kiddos. I try to keep hope in that. It seems scary knowing you have a gene mutation, but I'm hoping it's something that can be well managed!

taradise99 · October 2016

@Colleen0516 Do you know which type you have? I am compound heterozygous for MTHFR which means I have one of each type of mutation. They found it after my first IVF resulted in a miscarraige at about 12 weeks.

My RE now has me on lovenox, baby asparin, and metanx. I am also taking mega doses of B6 and B12. It is also important to look for a prenatal with the correct form of folic acid that we can absorb (l-methylfolate). Not all prenatals have this. I was taking Neevo, which is a prescription, but I found these gummies which have the correct form of folate and are much cheaper
https://smartypantsvitamins.com/products/prenatal/

Let me know if you have any other questions, I've been through doctors that think it is no big deal and therefore do not treat it... However, with this being my fourth IVF I am not taking any chances and am glad my doctor is being aggressive with it.

Colleen0516 · October 2016

@taradise99 thank you so much for responding! I'm currently in the TWW of my 4th round of ivf (3 miscarriages) I just learned I had this, I'm hoping it doesn't compromise this cycle! I know my doctor is prepared to treat it, I learn more tomm when I speak to them. I'm on baby asprin and she mentioned lovanex if I get a postive beta. What is metanx? What is it used for?

Thabk you for the information about the vitamins. I don't think mine have the right form, it simply lists it as folic acid. The b-6 say "as pridoxine hydrochloride") I'll have to buy new vitamins tomorrow. I am on Folgard but have been told that my body might not be processing that either- again, I learn more tomm.

Thank you avain!

suchaglencoco · October 2016

***lurking, tw, bfp and children mentioned***

A short version of our story is we got married, pregnant and suffered an early mc. We struggled getting pregnant again on our own and ended up down a long road that led to an "unexplained infertility" diagnosis. We did 2 iui attempts and then did a fresh transfer. I got pregnant with an embryo that split and we heard heart beats at one appointment and then did not at the next. After that, we requested additional testing and our RE begrudgingly agreed. This testing showed I have the MTHFR mutation and we were told only 50% of specialists think it actually affects fertility, but I was put on baby aspirin and folic acid. I immediately saw a decline in my headaches, fatigue and other issues I had previously that are listed as possible symptoms.
We took time off for my body to heal and began the frozen transfer process. I ended up needing a procedure done to clear remnants in my uterus from my last mc as well as polyps. We did our transfer and both embryos took and are now 11 month old crazy babes.

Whenever I speak to someone struggling, I always mention my mutation and ask them to research it and see if they may have the same symptoms. I don't know if the baby aspirin and folic acid helped our last pregnancy last or not, but I have continued on them and will especially do so if/when we are pregnant again.

Colleen0516 · October 2016

@suchaglencoco thank you!!! I needed to hear a positive pregnancy story!
baby aspring... check!
folic acid... not sure??
what form of it were you on? I'm on folgard, but not sure if that's an okay form for my body yet. Plan on eating as many natural forms of it as possible too!
What are your babies names? Again, thank you for sharing your story, I needed that!

suchaglencoco · October 2016

@Colleen0516, you're welcome. Like I said, I don't know if the aspirin and folic acid did the trick, but clearly they didn't hurt.
I just took it over the counter folic acid, nothing too fancy.
Feel free to message me.

carterh33 · October 2016

I thought I head that those with MTHFR have to take a special vitamin compared to regular folic acid. What kind do you all have? Is it prescription or OTC? I'm also taking baby asprin too and trying to eat a lot more natural foods with folic acid so I can process it better. I have an appointment with an RE on 11/7 so I'll ask him too, but I'm just curious. Thank you!

bai-by2019 · October 2016

@Colleen0516 I'm so happy to hear that the information was useful!!!! And I'm so happy to see you connecting with others and even getting some positive and encouraging information! I'm pulling for you!

taradise99 · October 2016

@carterh33 see my post above. I was taking Neevo which is a prescription but you can buy the vitamins I linked in my post online, and they have the correct form of folic acid.

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