Mthfr gene variation

[anotherypasswordtoremember]

Hi, in my recent blood tests I've apparently got a gene variation MTHFR c677t (heterozygous). I'm freaking out a bit as it's related to low folic acid absorption which is an obvious issue if I'm pregnant. I'm 6 weeks. I've been on the usual branded pregnancy supplements for a year but these are too low if you have an absorption problem.
So I'm basically freaking out about neural tube defects. At 6 weeks it's too late, the lack of folic acid has done it's damage. But you can't detect neural tube defects until 18 weeks.
I've been feeling something is off with this pregnancy (I miscarried my guest pregnancy last year) and I think I have another missed miscarriage soon. But if I don't... And there are neural tube defects... Man I just don't know what to think or do.
I'm also on Clexane as I have a blood clotting issue which likely caused the last miscarriage.
I feel like a mess. I don't feel like I can wait till 18 weeks to see what's going on it's it's likely all this damage has been done already, only to have terminate late. Apart from anything else I'm 34 and I've waited so long already. (I know people have kids later but that brings all sorts of other stress and worries so that honestly didn't make me feel better.)
I suppose I just want to know if anyone else had tested positive for this gene mutation and it they went on to have healthy babies?

I have it and am currently cuddling my sleeping 13 month old! You will have absorbed some of the folate (you absorb less but should get enough, plus you get some through your diet) so don't worry about the vitamins. I also took baby aspirin twice a day (on advice of haematologist), n-acetyl cysteine, a healthy dose of vitamin D and 5mg folate (5mg due to epilepsy and folate due to the mutation). I also had clexane injections from 28 weeks as I also have a blood clotting disorder. I had my baby at 35 - you are still young! I hope it goes well and try not to worry too much, a healthy pregnancy is definitely possible with that genetic mutation.

Thanks @nimbot I was worried my question was a bit niche! Haha. Glad you're both well.
When did you start on the folate? I suppose I'm worried that I found out about all this stuff at 6 weeks. In an ideal world I'd have known before so I could get on the folate rather than the synthetic folic acid.
I've been eating less leafy greens recently because of the clexane, the vitamin k can interfere apparently.
I'm seeing a specialist at some point soon about the blood clotting thing (lupus anticoagulant) but I don't know when and I just have so many questions about this whole thing!

I have it and my (now teen) dd is perfect. Try not to worry about it, it's actually quite a common variant and most people aren't even aware of it

If you’re heterozygous you can still absorb it, just less efficiently than someone without the mutation. I also have it and have a healthy son. I was told c30-50% in the UK are heterozygous so it is extremely common - don’t worry! Folate is better than folic acid.

@HarrietM87 did you go on extra supplements and when?
I've been given 5mg of folic acid to take on top of my pregnancy vitamin but I'm 7 weeks now so if I've been deficient in it it's a bit late now, the damage is done. Taking it would also cover up what's been going on in my blood up till now and I'll have to wait till 20 week scan to realise it's already got a neural tube defect.
Also I'm on blood thinners so if I start smashing the leafy greens for the folate I'm also taking in loads of vitamin k which stops the blood thinners working properly.
I'm still two weeks off seeing the midwives do I can't get any professional answers out of anyone.

Sorry I know that last bit is pessimistic but I just feel so flattened by all this. I can't get proper answers out of any professionals and I only know about the mutation because I asked to see all my tests results. the specialist I saw (I paid for fertility blood tests) didn't mention this when she was giving me the results and it's outside what my GP surgery can help with (bit niche!) so I'm just really frustrated I can't get any professional advice. I'm convinced I've already given my baby spina bifida.

I have the mutation too (homozygous) and I really don't think you have to worry. If you have a varied diet you should be fine. Most medical professionals unfortunately don't know anything about it. As others have said, try to get a good folate (not folic acid) supplement. This is because the body has to break down folic acid into folate and this is the very process that is hindered by our mutation. I have a wonderful and healthy boy now too! I also studied genetics at degree level so have some understanding of how it works.

@anotherypasswordtoremember you only know you have this because you have other issues: up to 50% of pregnant women in the UK are in the same boat and have no idea, and neural tube defects are rare. Even if you were homozygous you’d most likely be fine, but the fact is your body can absorb folic acid. I was seeing someone privately for other issues (recurrent mc due to aggressive autoimmune stuff) and he said I didn’t need to do anything different whatsoever. One of the pregnacare range of vits has folate rather than folic acid and I took that. Pregnancy and having a baby are full of risks and worries and you can’t do anything now beating yourself up about this. Just try to chill out and enjoy your pregnancy.

I am also homozygous for the mutation. I had 3 miscarriages before I found out. Unfortunately, the medical profession don't view it as being of concern because it's such a common mutation, I don't agree with that approach. But I was put on baby aspirin & 4mg folic acid for my next pregnancy which resulted in my now 9yr old DD.

If I'd known better I would've taken folate (methylfolate) rather than folic acid.

It's hard not to worry I do know that. I was so glad to have multiple scans during my pregnancy to reassure me that all was ok. I'm sorry you're going through the worry & really hope all is ok.

Hi OP, as others have said I am also heterozygous and only found out by having private tests. I found out early on I was having twins and was put on 5mg folic acid because of this - my consultant didn’t have any issues with this at all (folic acid rather than folate) and I just took on more folate in my diet. I am 36 weeks now and babies are fine! Please please don’t worry - the heterozygous version of this mutation is incredibly common and close to 50% of women have it without ever knowing.

Other posters who had this and also took baby aspirin - out of interest when did you stop the aspirin? I have my c-section booked next week and am supposed to stop taking it this week.

Thanks all

@MrsEG I was initially prescribed baby aspirin (I think linked to my recurrent mcs rather than this issue) but I had spotting at 6 weeks so was told to stop the aspirin and didn’t take it again for the rest of the pregnancy. I think you should check with docs re time to stop it; people I know who were on more hardcore blood thinners were given clear advice on the timing of that but with aspirin it might not matter so much.

hey I know this is an old post but your story is so similar to my own. I also have mthfr homozygous. And had 3 misscariges.
I wanted to see how you got on since your post, and success... and any advice you could give me would be appreciate massively xxxx

@anotherypasswordtoremember Hi where did you get this gene test done ? can any one on this thread help . can the NHS test for the genetic mutation or where is the best place to get this checked out ?