# MTHFR C667T - what is the risk of having a unhealthy baby?



## holidaygirl08 (Sep 11, 2014)

Hi there,

I have just been told that I have tested positive for the Homozygous mutation of C677T gene.  I have scanned this site for discussions but it is rare topic.  I have scanned the web and there is lots  of papers.  It looks to me a common reason for early miscarriage (I have had three that I know about) but, my main concern is the increased risk of the poor development of the baby and chances of autism amongst other things.

I desperately wish for a baby but, could not possibly go ahead if there is a definite risk of this happening.  Some papers say supplements can overcome the genetic defect and this is what the clinic are recommending but, I can't find any evidence.

I wondered if anyone had any experience of this good or bad?

Thanks in advance
HG


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## beattie2 (Dec 30, 2005)

I have one copy of mutation and was advised to take a higher dose of folic acid (double usual dose) and also vitamin B6 and B12 .In the US they do a vitamin supplement which the Alan Beer centre recommended (Folgard)-it is quite expensive and and can't remember everything in it- but you might want to look into this or Uk alternative. Aspirin is also sometimes recommended. The main risks as I understood them were  slightly higher risk of neural tube defects or higher risk of miscarriage but they can be managed safely with the right supplements. I took the higher doses of B vits and also  aspirin Have a chat to your doc  Good luck Bx


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## Rosalind73 (Apr 25, 2012)

Hi holidaygirl,

My friend tested positive for both copies of the defective gene (homozygous) and Professor Regan (top miscarriage expert) advised that she needed to take 5mg of folic acid daily as a lifestyle thing, i.e. for the rest of her life in order to avoid venous thrombotic events. But she was told that the MTHFR mutation is not associated with miscarriage.

Have a look at this:
http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.1999.01319.x/full

If you have a mutation in only one of your genes (the heterozygous form) and are a carrier (as I am) I think you may need to take slightly higher doses of folic acid. My previously fertility clinic advised taking 800 micrograms/day but I'm not sure they are correct about that as I always thought if you were only a carrier for something you weren't actually affected by it. I could be wrong though. I kept meaning to clarify with the recurrent miscarriage clinic at St. Mary's and never quite managed to.

Partly because my lab report said this:
"This mutation {heterozygous} is present in about 40% of the Caucasian population and recent publications suggest there is growing evidence that MTHFR polymorphism testing has minimal clinical utility."

And also because St. Mary's RMC no longer test for it at all (I had it done privately before I realised it wasn't that relevant). What they did say though was that they have recently finished a study which found that women with unexplained miscarriage did better on higher doses of folic acid, and so were now advising their patients to take 1000 micrograms (3 x standard 400 microgram tablet)

So really don't worry too much about it, but as you have the homozygous version, you might want to go to your GP and discuss it - as well as getting an ongoing prescription for folic acid.

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## Blondie71 (Oct 26, 2011)

What an interesting thread girls, I was prescribed 5mg folic acid from my clinic (think everybody doing tx there is) at the start of stimming and took it all the way through pregnancy, hadn't realised how beneficial it might have been now until reading this as was never tested for anything genetic prior to tx or since.

On the autism side we have ALOT in our family so def genes play a part imo


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## holidaygirl08 (Sep 11, 2014)

Hi there ladies,

Thank you for all your replies - I am due to speak with the clinic late Monday so I will let you know what they say.  I have also read a little more and tried to pick out the common bits.

The double mutation (****) appears much more troublesome than the single mutation (hetero).  Gailgegirl - what I have read is in line with your comments - the double mutation means you can't process folic acid (anywhere from 40-80% is wasted) and your body can even have trouble removing toxins of all types.  As you mentioned the build up homocysteine which is the thing that actually causes all the problems.  So...where I am at to date is that you girls are right - its all about managing your body and knowing what to do.  Its seems active forms of vit B12 and B6 plus methyl-folate (not folic acid) is the way to go.

I will update Monday - in the meantime - thank you all and best wishes.

HG


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## daisyg (Jan 7, 2004)

Hi,

I have this MTHFR mutation and had multiple miscarriages until the addition of clexane, prednisolone and higher dose vit Bs including folic acid.

Personally, if I were you I would ask for further clarification, as I believe you need to be thinking about clexane in addition to these doses of B vits., 5 mg folic acid, 1mg B12 and 50mg B6. You can make up your own cocktail to these specifications from OTC vits at Holland & Barratt.

I personally would not just trust the high dose vitamins and would insist on clexane. IMHO you don't have to have a raised homocysteine level to risk miscarriage.
http://www.repro-med.net/thrombophilia-recurrent-miscarriage-and-infertility

I was also under Lesley Regan and she is extremely conservative in her approach. I was on steroids which she disapproved of but which have now been accepted by the RMC.

I wouldn't risk another cycle without high dose B vits as above AND clexane.
Best,
Daisy xxxx

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## deedee_spark (Aug 6, 2014)

I would avoid synthetic folic acid. It totally clogged up my system and caused my immunes to be more inflamed. My body seems unable to process synthetic things because of this gene. Once switching to active folate and active B vitamins, I feel so much better. More energy and more focus. I guess a better chance of BFP  . Obviously, this is a permanent life change for me - everything as natural as possible and loads of green food.

This is the best site if you have the defective gene enzyme:

http://mthfr.net/

I would agree with gailgegirl's vitamins. Those are the ones I take.

xx

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## njr_26 (Aug 27, 2011)

Hi Holidaygirl, I have this and I had 5mg folic acid, extra B6 and B12 in addtition to 60mg clexane and aspirin daily. It worked because I now have an 18 month old.

Have a look at this about MTHFR: http://www.fertilityfriends.co.uk/forum/index.php?topic=242395.20


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## Rosalind73 (Apr 25, 2012)

Hi daisyg - very interesting to read what you say. Can I just clarify (and with njr_26 also) do you have both copies of the mutation?

Also, do you mind me asking what you mean when you say steroids have been accepted by the RMC? 

When I was there last (in October last year), the doctor I saw (not Regan) said they will continue prescriptions of prednisolone if clinics have already put women on them (usually at a 20mg dose he said), but I don't think the RMC prescribe them if someone is not already on them. 

But I could be wrong and would be very interested to know if that's the case as whether to take them or not is an ongoing dilemma for me.

What dose did you take if you don't mind me asking?

Very glad to see you got there in the end!


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## daisyg (Jan 7, 2004)

Hi everyone,

Interesting information! I cycled 8 years ago, so advice on which kind of b vits etc. may have changed. I was a patient of Dr. Beer, Dr. Gorgy and Dr Ndukwe so went on their advice. Certainly Dr. Beer recommended Folgard 2.2 or Metanx, but at that time I was unable to get in the UK.

Rosalind - Yes, I have both copies of the mutation. Certainly Dr Raj Rai, who was my doctor at St. Mary's is more accepting of the use of steroids than Regan and he now does prescribe them at St. Mary's.

http://www.bbc.co.uk/sn/tvradio/programmes/horizon/heartbeat.shtml

I was on a 25mg daily dose of Prednisolone starting on day 1 of my DEivf cycle and lasting until 12 weeks pg, tapering off starting in 11th week. I was also on 40mg clexane, gestone, vitamins B6, B12 and 5mg folic plus IVIg.

I did get there in the end, but there were times when I really didn't believe it would happen for me. My children are 8 now and I still sometimes can't believe how lucky I am to have them!

Best of luck,

Daisy xxx

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## holidaygirl08 (Sep 11, 2014)

Hi there ladies,

Well....I have my consultation with the Dr. and feel a bit concerned - she said not to worry - and seemed to think it was very little risk as long as I took "Hidroxil (a combination of Vitamins B12, B6 and B1) and folic acid from the start of the endometrial preparation".

I did say that I had read that folic acid was bad for the homozygous version and I should take methyl folate - she didn't think so.  She also didn't knowledge links to spinabifida and autism only that it links to miscarriage.  I think my feeling (although it was over the phone as clinic is in Spain) is that its not fully understood and there are differing opinions.

The fact they tested for me (which is more than most clinics have/would) is great - I was also tested for other gene mutations and immunology and all were ok.  My homocysteine level was also fine.  I also asked how come this was low when with a double mutation you expect it to be high - she at first said it was because the enzyme was working but, then said the levels can vary which is why they test for the MTHFR gene.

I guess I would feel more confident if she had said to be safe I'll give you methyl folate not folic acid.  Now I just feel terribly nervous that if I go ahead and its not right something will be wrong with baby 

Need to sleep on it I think!  

HG


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## holidaygirl08 (Sep 11, 2014)

Hi Ladies,

Thought I should update you on my MTHFR journey.  I approached my GP - who had never heard of it and wouldn't refer me to anyone - oh joy!  I then asked by brother-in-law as he is a GP - a big step as not told them about my IVF.  He was great - he did not know but tried a friend who is a specialist - he didn't know but, recommended someone who consults fro an IVF clinic - awaiting her return from holiday next week!

In the meantime I went to see a nutritionist trained in MTHFR - no black and white answer as the degree of needing methyl folate depends on another gene which deals with a linked metabolic cycle that uses B6 and B12- which I would need to test for and would take several weeks which I don't have time for as my IVF starts mid May.

HOWEVER, the nutritionist said take prescribed Vit B1, B6 and B12 plus 1mg of methyl folate plus as healthy diet as possible.  She actually thought that the vitamin level prescribed by IVF doc was far too high but, said it wouldn't do me any harm as my body would get rid of them.  She said not to worry too much as these things are individual and one solution doesn't fit all.

I will be interested to see what the specialist says when she returns from holiday.

This journey is not an easy one - I had no idea how hard it would be when I began   :-/

HG


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