Turn on the Thinking Cap
UPDATE on 2/13/2012: This is no longer theory as current research supports it. This research has yet to be published. First read my theory below and then I will provide the proof.
This theory is born out of wondering why some women are experiencing recurrent pregnancy loss, have had all sorts of laboratory and physical tests done yet the only thing that shows up is a heterozygous A1298C MTHFR mutation OR a heterozygous C677T mutation along with a normal homocysteine level.
What do women typically hear as recommendations when having heterozygous MTHFR mutations along with normal homocysteine levels?
We don’t see risk associated with heterozygous MTHFR mutations when homocysteine levels are fine. Heterozygous A1298C (or C677T) is a mild and common mutation seen in the population. No treatment is necessary.
Researchers, geneticists and doctors do not appear to be considering the fact that a developing baby is made from two sets of genes:
The Mother’s AND The Father’s MTHFR Genes and the Odds of Inheritance:
DIAGRAM SHOWING INCREASED RISK TO FETUS FROM FATHER'S MTHFR MUTATION
Explanation:
If the mother is heterozygous A1298C and the husband is also carrying a heterozygous A1298C mutation – then the likelihood of baby having two copies of A1298C mutations exists.
In fact, the likelihood is at least 25% that baby can be homozygous A1298C.
Let’s look at another scenario:
Mother has a heterozygous A1298C mutation and father has a heterozygous C677T mutation.
The likelihood that the developing baby has a compound heterozygous mutation is at least a 25% reality.
Compound heterozygous MTHFR mutation is also not great to have as the MTHFR mutation has significantly reduced function. The function of the MTHFR gene is at 50% capacity when one has a heterozygous A1298C mutation and a heterozygous C677T mutation.
I’m not going to begin explaining the reality of a homozygous A1298C or homozygous C677T father.
Research does state this:
…combined MTHFR mutations likely carry a selective disadvantage and contribute to decreased fetal viability, especially during times of folate insufficiency…. This study provides evidence that the combined effects of multiple mutations on phenotype, particularly in the case of common polymorphisms, are not restricted to intergenic interactions. The recognition that combined MTHFR genotypes may influence pregnancy outcomes further demonstrates both the clinical significance of this gene and the potential protective role of folate sufficiency.[1]
That said, it is best to proactively treat for MTHFR mutations in all its forms because the baby may carry more than just the mother’s MTHFR mutation – but the father’s MTHFR mutation as well.
Doctors must test the future father’s genes for MTHFR mutations and understand the potential risk to developing baby. Then take the necessary precautions for the woman (and baby) by supplementing or prescribing properly.
Doesn’t this explain why so many women with heterozygous MTHFR mutations still miscarry – at least in part?
Obviously there can be other causes here as well for miscarriage – but let’s keep it focused to MTHFR.
My take on how to address MTHFR mutations and pregnancy:
- Future mother: Get tested for MTHFR mutations
- Future father: Get tested for MTHFR mutations
- Future mother: Get tested for MMA, S-adenosylhomocysteine and homocysteine (only focusing on MTHFR here. Obviously other testing and physicals need to be done).
- Take appropriate action to ensure a safer pregnancy.
Please do comment – doctors, geneticists, women, men and all in between.
I need feedback.
What I actually need is research done on this very subject.
UPDATE on 2/13/2012: I found the research and it is not yet even published – it is that new.
Results of the study:
The overall, heterozygous and/or homozygous point mutations in FVL – FVR2, ApoE2, PAI-1, MTHFR C677T – A1298C, and ACE genes were associated with recurrent pregnancy loss (RPL). There was no meaningful association between RPL and other studied genes.
Current results showed that RPL is related to combined parental (not only maternal) thrombophilic gene mutations. [2]
Take Home Message:
If you have recurrent pregnancy loss or are considering becoming pregnant, then I highly recommend you ask your doctor to test you AND your partner for the genes:
- FVL – FVL2
- ApoE2
- PAI-1
- ACE
- MTHFR
The research by Ozdemir proves the point that genetics from the father and mother must be considered in recurrent pregnancy loss.
Whether heterozygous MTHFR by itself causes recurrent pregnancy loss is still to be debated; however, when combined with the above mutations, the effect is clear.
I need you to Tweet, Share, Like, Email, Print, Post on Forums – do everything you can think of to get this article in the hands of those who need to read it.
This article can save the lives of babies every year. Add the ability of helping potential parents avoid the devastating loss of their baby.
Health care needs to be more aware of prevention. This is a classic example why.
Resources:
[1] Isatolo et al, Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations, American Journal of Human Genetics
[2] Ozdemir et al, Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations, Genetic Testing and Molecular Biomarkers
Interesting…i agree the paternal input is underrated. I am compound hetero mthfr and got thru 2 pregnancies and no miscarriage, from all that I read this is a miracle! That is not to say they were not without issues, I did have a suspected PE at 38 weeks with number 2. Both kids have a single copy of the mutation, my daughter 1298 and son 677…..
There father has whilst not tested to my knowledge has absolutely no indication of any mthfr mutation and is a picture of good health. I absolutely believe if he also contributed to the genetic pool with a mutation the outcomes would have been very different based on what i am learning.
I am a 33 year old mother of two small children, ages 4 and 1. I had my daughter when I was 29 but I first became pregnant when I was 19. I miscarried and had four more miscarriages after. None of the doctors that I saw tried to find out why I had so many and what I could do to prevent it from happening again. When I was 28 and became pregnant with my daughter, the new doctor that I began seeing decided to have me tested for everything he could think of. At the lab, they took 19 viles of blood from me. When I returned to the doctor, he told me that they had only found one thing, MTHFR. He then referred me to a Neonatal Specialist who prescribed me extra folic acid to be taken daily as well as baby aspirin, also daily. From there on out, I was closely monitored on a monthly basis by both my ob/gyn and my Neonatal specialist to ensure the safety of both me and me and my baby.
Jamie –
I am glad you found a neonatal specialist who was able to care well for you and your daughter.
What MTHFR mutations do you have?
Your husband?
Have you tested your daughter for MTHFR?
Are you still undergoing treatment for MTHFR?
In health,
Dr Ben
@jamie; I have a very similar story. I have had 5 miscarriages and a still born(7-8months along) I am pregnant again(7weeks 1 day) at age 29 soon to be 30. My doctor has tested me for everything he was the only doctor to find out that I am hetero MTHFR C677T( I have had a lot of doctors, this one has been the best). They have me on extra folic acid(about 2.6 ml) 1 baby aspirin, 1 injection of lovenox(blood thinner) that is inserted in my stomach everyday, progesterone gel 1x/day, along with B vitamins, omega 3 fish oil, oh not to mention prenatals. My husband has not been tested(thanks Dr. Ben for the info on that) this will be the first time I will get a specialist, who is suppose to be the best in my area. How much folic acid did you take? Did you go on bed rest? I work a lot, and I work with children with Autism which means it is a high demand job. Any suggestions from anyone that has had experience with this? I’m not sure what to do?
Kristin –
I recommend you talk with your doctors about switching from standard folic acid to methylcobalamin and methylfolate – a blend. Standard folic acid is going to ‘work’ but not nearly as effectively as the methylcobalamin and methylfolate blend.
I have been tested for everything. I’d say close to 40 tubes of blood have been drawn in an effort to learn the cause behind my 23 week and 14 week losses. I have three little children at home. My losses started two years after my third child was born, I was 35. The only test that came up positive was MTHFR. I am homozygous a1298c. I have been told that this is not the cause of my losses. In fact I’ve even had a perinatologist tell me that my 14 week loss was a common miscarriage. The more I read, in particular your article, I find that MTHFR could in fact be the cause of my losses. I am newly pregnant again. This is my last try to add to my family. I am on what’s called the kitchen sink plan. 40mg lovenox once daily, crinone once daily, deplin 7.5mg, baby aspirin, folgard, and prenatal vitamins. I am currently 5 weeks. I worry that this plan won’t work, that the real cause of my losses has not been discovered yet. I worry that I’m not on enough lovenox. I worry that I’m not on the right type of folate. I worry that I won’t get enough monitoring. I guess my question to you is, does the deplin and the folgard cover all my folate needs? Do you think I have a good chance at a positive outcome with the deplin, folgard and lovenox? Thank you for posting the article. It’s nice to a medical professional take MTHFR seriously.
Jessica –
I think you may be taking too much folate.
Too much is not going to solve anything – it could be harmful.
Folguard does not contain effective forms of nutrients. I do not like people using it. I prefer MetanX or HomocysteX.
Deplin is potent active folate but it is only active folate which is not enough.
Lowering the amount of fibrin may prove useful as well. This can be done by using a fermented extract called nattokinase. Flow Fx contains nattokinase. Consider taking 1 capsule of Flow Fx in the AM and one capsule in the PM. Make sure it is ok with your doctors as Flow Fx thins the blood. They may need to adjust the Lovenox and baby aspirin dose – and likely so.
There is a comment somewhere on here that a woman used Lovenox, baby aspirin and she still miscarried a couple times. It wasn’t until she added nattokinase did she carry to full term. Coincidence? Perhaps. Worth a shot? In my book, yes.
A quality prenatal, EPA/DHA, probiotic, nutrition and lifestyle are all critical as well.
I highly recommend you schedule a 30 minute consult with me so we can get into detail and specific to your situation.
Homozygous A1298C can be pretty intense depending on the individual.
I also wonder what MTHFR mutations your husband/partner may have – if any. If he has one or more mutations, then the likelihood of your fetus having a potentially severe MTHFR mutation is increased.
A lot to discuss!
There is a lot of room to improve here and that is what I’d like to do – simply increase the odds of a healthy outcome. I cannot guarantee anything – I am not a miracle worker – but I certainly can help direct you to calmer and safer waters which are critical to a developing little one.
In health,
Dr Ben
@Jessica Wow these stories sound like mine the more I read your stories the more I write back. that is almost exactly my story. but what is deplin? what is its purpose? I wrote to the previous person “I have had 5 miscarriages and a still born(7-8months along) I am pregnant again(7weeks 1 day) at age 29 soon to be 30. My doctor has tested me for everything he was the only doctor to find out that I am hetero MTHFR C677T( I have had a lot of doctors, this one has been the best). They have me on extra folic acid(about 2.6 ml) 1 baby aspirin, 1 injection of lovenox(blood thinner) that is inserted in my stomach everyday, progesterone gel 1x/day, along with B vitamins, omega 3 fish oil, oh not to mention prenatals. My husband has not been tested(thanks Dr. Ben for the info on that) this will be the first time I will get a specialist, who is suppose to be the best in my area. How much folic acid did you take? Did you go on bed rest? I work a lot, and I work with children with Autism which means it is a high demand job. Any suggestions from anyone that has had experience with this? I’m not sure what to do?” I would love to hear back from you.
Kristin – Deplin is very high dose methylfolate and only methylfolate. I do not approve of it unless it is for those with serious depression. I don’t agree that only methylfolate should be taken – I believe that other nutrients must be taken as well – especially as B vitamins work together in numerous biochemical pathways.
There is no one snake oil.
thank you for all your responses. This site has changed my thinking, and has been a blessing. The insurance company has to approve the 40 mg lovenox off brand which should be this Monday(tomorrow) but is that enough 1x daily. I wonder if taking Neevo DHA 1x/daily, baby aspirin 1x/daily, omega DHA oil(2teaspoons/daily), folguard 1x/daily,,folic acid(1.6), along with critone 8% everynight is enough. I’ve had 5 miscarriages all under 11 weeks, and my first child was a stillborn at 24weeks which makes 6. I found out I had the hetero MTHFR C677T and nothing else, (husband will soon be tested) during the last pregnancy and took the same amount of lovenox, baby aspirin and folic acid only and miscarried at 11 weeks. Over 2 years later I am pregnant going on 8 weeks on Tuesday(2days). What do you think?
Kristin –
Given your miscarriages so early makes me think your progesterone levels are low. I am not sure if you are taking enough Critone or if your estrogen levels are just too high due to xenoestrogens or some other factors going on. The single heterozygous MTHFR mutation is playing a role but there is likely something else.
Thyroid?
Folgard is not sufficient. I recommend you consider Metanx as it has effective forms of methylfolate, methylcobalamin and pyridoxal-5-phosphate. The Folgard has very inferior ingredients.
I’d also get on CoQ10 – at least 50 mg a day and probiotics.
Please read the Prenatal article I wrote.
http://mthfr.net/prenatal-supplementation-optimizing-your-future-child/2012/01/20/
Thanks again where can I get is there a special type I should get? My thyroid at one point seemed enlarged I’m not sure what that meant. Lovenox off brand 1x at 40mg is that enough?
Kristin –
Enlarged thyroid may be iodine deficiency or hypothyroidism or both. You need to have an integrative doctor evaluate your thyroid properly as many doctors do not evaluate it properly – not even close.
I’m not sure which amount of Lovenox is appropriate. Doctors have evaluate specific markers in your blood in order to determine optimal dosage.
Metanx is prescription-only.
You may consider HomocysteX and start with 1 capsule twice a day without food. >HomocysteX uses the same nutrients as Metanx – just less potent per capsule allowing you to adjust to your optimum level. HomocysteX is also very pure – without additives, colors, etc.
I meant to say where can I get Metanx and what type.
Hi Dr. Ben..first I want to say thank you for creating this web site, its great to finally see so much information on this issue!! I myself have MTHFR C677T homozygos, I have had 3 misscariges and my homocystiene levels have always been normal. My husband and I are ttc again and the OB that I have seen has only put me on baby asprin and 4mg of folic acid, which I know is pointless. He pretty much thinks MTHFR is no big deal, this is more than frustrating and would like the proper treatment to avoid another loss, I also wasnt diagnosed with MTHFR until my 3rd misscarage and my husband hasent been tested yet but that something were definatley going to do…any suggestions would be a great help!
Hi Lisa –
I am sorry to hear about your losses – three of them. That must be very difficult. I’d love to help you stop it at three.
I am happy to provide information via a one-on-one consult. While a homozygous C677T MTHFR mutation is fairly common, suggestions for supplementation and lifestyle changes vary from person to person. In order to provide more effective information that is useful, I find the consults the only way.
The more I learn about MTHFR, the more I learn that there is no ‘one size fits all’ technique. If you find a doctor that approaches MTHFR this way, I seriously do not agree with their approach.
There are also other reasons for miscarriages – beyond MTHFR – however, homozygous C677T is a serious issue that must be dealt with. You are absolutely right – folic acid is worthless and you likely need more than baby aspirin.
I am available for consults on a limited basis. My online scheduler shows which times are available.
You may obtain consult minutes here as well as schedule an appointment.
As a father of three young boys and passionate about disease prevention and health promotion, I’ve spent the last few years learning how to optimize pregnancies as much as possible. My goal is to help men and women have as healthy a newborn child as possible.
I’d love to help you do all you can to increase those odds.
Best,
Dr Ben
A year and a half ago I suffered a miscarriage losing our little girl at 20 weeks. I had no problems with our first child, another girl other than gestational diabetes and a mild case of phlebitis post delivery. After our “angel” was taken from us, it was discovered that I had superficial clotting in both legs… with insufficient flow. However, for the past year that seems to have resolved itself. I took it upon myself to go to a hematologist and get further evaluated as thingsn did not seem to add up. I was diagnosed wiht being compound heterozygous mthfr. My doctors seem to only be concerned if I were to become pregnant again and said that then I would take a baby aspirin and be fine. They also did not seem concerned or suggest any treatment for when I am not TTC or if we were done having children, etc. What concerns me is that out of the several medical professionals that I have seen, no one seems very concerned sinc emy homocystein levels were fine… I’m not sure if I have just become untrusting or if I am looking too far into this. Please advise.
Jessica –
There has been research published on MTHFR stating that if homocysteine levels are fine or if they reduce with folic acid, that MTHFR mutations are not worth doing anything about.
This is the problem.
If doctors read the countless other research articles on MTHFR mutations, they will understand that a few studies saying ‘no big deal’ are not in the majority.
I also want to point out the fact that you do not want to put all the blame on MTHFR as there are other causes of miscarriage. These must be ruled out – and ruled in.
I had a consult with a woman today who insisted that her miscarriages were due to her compound heterozygous MTHFR mutation – which is quite serious. Her miscarriage could have been caused by that – you bet. However, she also has hypothyroidism, low progesterone and elevated estrogen (PCOS) – and is underweight.
So it is my job – as a physician – to look at things from all angles and not with blinders.
During medical school, I was in clinical training and my professor said a weakness of mine was narrowing my focus too quickly. He was right. I’ve since learned that I cannot do this – and while I run this website dedicated to MTHFR mutations, I still truly look at all other possibilities. Honest!
I would enjoy the opportunity to work with you for 30 to 45 minutes initially to discuss your situation and improve it.
You have the compound heterozygous MTHFR mutation which is no small deal. If you do not take the proper nutrients and perhaps medications, your pregnancy will be at risk again.
Taking just a baby aspirin is FAR from fine. That is not even close to what you need to be taking in order to assure a healthy pregnancy.
Where do doctors come off with saying comments like this?
Don’t they recall how complex embryology is? I recall studying embryology in med school while my wife was pregnant with our first son. It freaked me out. All I envisioned was all the complexities and how easy it is for something to go wrong – yet most of the time nothing does. To me, that is amazing.
However, we MUST respect this process of human development and support it fully from all angles – regardless if one has a MTHFR mutation or not.
I’m here wanting to help. Should you desire my assistance and expertise here, please schedule an initial consult of 30 to 45 minutes. If you want to start with 15 minutes and ‘check me out’ and how I work, you may do that as well. We can continue the consult from there and charge additional at the completion or we can stop and you can either schedule another consult later or stop there.
You may obtain consult minutes here along with scheduling a time which works well for your schedule.
I urge you to test your husband/partner as well for MTHFR mutations. If you are compound heterozygous MTHFR and he has one or more MTHFR mutations, your baby is at increased risk. We can reduce that risk by supplying your husband with needed nutrients as well.
In health,
Dr Ben
Hi, i have had 6 miscarriages….3 in 2nd trimester….i was jus told that i was positive for heterozygous (MTHFR) and prolonged clotting…is this something that can be treated..i have no children..but would like to..
Thanks
Hi Jenevra –
I am sorry to hear that.
Which MTHFR mutation you have? 1298 or 677?
I assume 677?
What have your doctors done so far? What have they done for your previous 3? What were you taking?
Have they tested you for antiphospolipid syndrome? Cardiolipin? Hormone levels?
I am desperately seeking information regarding mutations of the A1298C gene. I tested heterozygous for this gene and have been almost unable to find any information on how this would effect someone who is NOT pregnant. (No offense to anyone who has suffered due to this mutation during a pregnancy) I currently have one child and do not plan on any others. I just want to know if some of the mysterious symptoms I have been experiencing most of my life are of any relation, and what I should do about it. I have had numerous blood & diagnostic tests and this is one of the only ones to come back positive. My RF was slightly elevates and for some unknown reason my calcium is up and down. Any info, articles etc. would be greatly appreciated.
Krista –
I am working on an article now about the A1298 MTHFR mutation. I hope it will be done tomorrow – it is entry level but is more than what is out there currently.
To reassure you, heterozygous A1298C MTHFR mutation is quite mild from what I am experiencing from others and from the literature. However, it doesn’t mean that you do nothing about it. There could be compounding mutations, lifestyle, environmental exposures and life stressors which may exacerbate the single A1298C mutation effects.
What I am also noticing is that many people see that they test positive for 1 copy of the MTHFR mutation and put all their eggs into that basket hoping that may be the reason for their unexplained symptoms. Sometimes yes – but most of the time – not.
I am thinking it best for you to schedule a consult as I feel other things are contributing to your symptoms. Lab tests are not always the answer and many times incorrect or incomplete lab tests are ordered.
You can get better – I’ve seen it over and over again.
Hi,
My doctor believes that the MTHFR defect means that the body can convert little folate into its active form, folinic acid. This, he believes, can cause miscarriage too. I take folinic acid as a supplement every day.
Thanks.
Hello –
I agree with your doctor that MTHFR can cause miscarriages – absolutely.
MTHFR enzyme though does not convert folate to folinic acid.
The MTHFR enzyme converts the 5-10-MTHF (5-10-methylene tetrahydrofolate) to 5-MTHF (5-methyl-tetrahydrofolate) which is the most active form and final end stage form as well.
I highly recommend you consider informing your doctor to switch you to the L-5-MTHF form of folate (also known as 5-MTHF or Metafolin).
Folinic acid is a more active form of folate but it is not the most active form and it definitely cannot get past the MTHFR enzyme defect very well – only a small percentage.
Hey Dr. Ben,
It was nice to find your website! I’ve been working with Shady Grove Fertility for almost a year now and I feel like we’re finally getting somewhere and you may be the final touch!
After trying for almost 2 years I had a surgery and was finally able to conceive. Unfortunately my first 2 pregnancies (although they happened the first month of trying) have both come to an end. After doing some blood tests they found that not only do I have the MTHFR mutation, I have both strands- C677T & A12988C.
Right now my doctor has me taking the Pre-natal Vitamin called Neevo. Any thoughts on the matter? I’d be interested to hear what you think.
Hi Megan –
I am glad you found out you have the compound heterozygous MTHFR mutation. That is a big help.
Compound heterozygous is a complex MTHFR mutation and requires some sleuthing.
I do not recommend getting pregnant right now – not until you get a full program going.
Neevo is decent but it not nearly enough.
Those with compound heterozygous MTHFR have other risk factors that must be addressed – such as clotting, low nitric oxide, heavy metal toxicity, low methylation, and others. These are all massively important factors which must be addressed.
I highly recommend you schedule a consult so we can get you on the right track.
There is just too much to discuss here.
I understand you may be wanting to get pregnant right away again – or you may already be. If you are not, it gives us more flexibility.
In the meantime, I highly recommend you test your husband/partner for MTHFR mutations as well. Read this article I wrote about paternal testing for MTHFR mutations.
While Neevo contains active folate, I believe you need much more than that. This we can discuss when I learn more about your diet, lifestyle, and history.
There is nothing better than helping guide a future mother. I would love to see you a photo of you, your partner and your new baby. I believe it possible – just need to increase the odds and make the right adjustments.
Thank you for the information and webiste. It is very informative. I am homozygous for the c677t mutation and my husband and I are planning on ttc soon. I had an appointment with mfm but they called and told me it was a waste of their time to meet with me since I have not had any other miscarriages and this was not severe enough for them to see me. I was just wondering what your thoughts were regarding the mutation I have and the severity of it. I am still attempting to find a doctor that believes this is a concern. Thanks for your advice and information.
Amy –
Homozygous C677T MTHFR mutation is serious –
If you try to conceive, the likelihood of miscarriage is very high if you are not proactive and address the MTHFR mutation.
You can try to find a doctor here that knowledgeable about MTHFR and is near you:
http://www.Naturopathic.org
http://www.FunctionalMedicine.org
http://www.AAEMOnline.org
If you cannot find a doc knowledgeable, I can give you some information over a consult about how to prepare.
I recommend you consider getting on HomocysteX right now as it is designed to support healthy homocysteine levels and increase blood levels of methylfolate – which you are seriously deficient in.
There are other things to supplement with besides HomocysteX – a quality multivitamin that uses methylfolate, 6,000 IU a day of vitamin D3, potent amounts of EPA/DHA, probiotic that contains multiple strains and 25 billion bacteria per serving, 50 mg of CoQ10 as ubiquinol and perhaps nattokinase to reduce fibrin levels which are the building blocks of blood clotting.
If you become pregnant, it is a must that you work with your doctor and discuss appropriate blood thinners such as Lovenox and baby aspirin. Taking nattokinase instead of these has not been proven in research so I don’t recommend. I do know of a woman who finally carried to term after trying everything. She used 100 mg of nattokinase twice a day. The Lovenox and aspirin did not work for her. Fluke? Not sure because not enough people to prove or disprove. If you get on Lovenox or aspirin, you will have to stop Flow Fx or your nattokinase supplement. You cannot take both.
Thanks for the information you provided. I am still working on finding a doctor in my area that thinks this is something to be concerned about which is very frustrating. I was wondering if you could clarify a few things for me. As I stated earlier I am homozygous for the c677T mutations with a double copy of c677t. Many doctors I spoke with do not feel this is serious. I know you mentioned in your post that it was. Does having a double copy make it not as serious? I just can’t believe how many doctors want me to “try and see” what happens with a pregnancy before they will do anything. Thanks again for all your research and support on your site.
Amy –
Homozygous C677T MTHFR mutation is serious – very serious.
You cannot ‘wait and see’ with a homozygous MTHFR mutation. There is no time and risking a life is not something a doctor should take lightly.
You need to get on Metanx or something similar immediately along with CoQ10, Fish Oil, Krill Oil, Vitamin D3, Probiotic, Multivitamin/Multimineral and (Lovenox during pregnancy.)
I am a 43 year old female no children (never attempted). I was diagnosed with B-12 deficiency, high homocysteine and CRP of 4 about 13 years ago. I was put on monthly B-12 shots. This diagnosis occurred with a rheumatologist after experiencing severe fatigue, fibromyalgia, insomnia, reynauds etc. I also have ADD (inattentive type)
About 10 years ago I developed an SPV after a long flight with subsequent painful phlebitis that would not heal. I was referred to hematologist, put on Coumadin. Additional tests revealed MTHFR mutation (Heterozygous). He added Folate and high doses of B6. He later put me on baby aspirin daily. My father’s family is FULL of heart disease. No one seems interested in learning about this disease as it seems confusing to them. I just tell them to make sure to take folate. My father has battled severe heart disease and vascular calcification all his life. There is still question whether I want to have children. I havent seen my hematologist in many, many years. He did suggest I see a genetic counselor of I plan to have children. Should I even go through trying to have a child? Are the risks of blood clot high for me? Does it mean I can put my child at risk for a life of pain, heart disease? Thank you for a that you are doing! I work in a hospital and few physicians know the MTHFR gene mutation! I’m so glad I found you!
Hello Doc Ben! I am 28 years old and I have experienced 5 miscarriages. My most recent being Feb 25, 2011. Finally after the fifth one my doc decided to send me for genetic testing. The only thing that came back not normal was me being positive with homozygous c677t gene mutation. My partner does not have either strand. We have decided to start trying to conceive but fear another loss. I have spoke to my doc (who is not concerned about my gene mutation) has instructed me to take baby aspirin and a prenatal at least a month before trying. I have been on my prenatal and baby aspirin now for three months, now that it’s a new year my partner and I would like to start trying. I however, can not get my doc to do blood testing again. What could you recommend that could increase our chances of carrying full term? Oh, I forgot to mention my pregnancies have never been past 7 weeks along. I would like to thank you for your focus on these mutations and knowledge of information, as my only response for treatment was “40% of all women are affected by it, take a baby aspirin each day” I feel as though a simple baby aspirin is not the answer. Are you doing any clinical research? I would be interested in the information you acquire in your studies. Thank you.
Jessica –
I commend you for actively seeking out information. You are right. Taking aspirin and a prenatal is not enough – not even close.
Without further changes, I believe the likelihood of another miscarriage is quite great.
Which prenatal you taking? If it does not have methylfolate in it, it is worthless for you.
I encourage you to wait another 3 months while you work on actively addressing your MTHFR mutation through proper supplement changes and getting the blood levels of nutrients to the levels they need to be before you get pregnant.
It is not just about blood clots with MTHFR mutations! It is about the inability to make proteins which are produced in massive amounts during pregnancy. It is about processing the inbound toxins from our polluted planet and limiting their effects on your developing child. It is about preventing anemias which if occur, put your baby at risk of inadequate brain development.
You need to find a doc who IS concerned about your MTHFR mutation. I am sorry to say this but a doctor who is not concerned about a MTHFR mutation – especially when you are trying to conceive – is not in your best interest.
Look for a physician who knows about MTHFR that is near you on these websites:
http://www.Naturopathic.org
http://www.FunctionalMedicine.org
http://www.AAEMonline.org
http://www.Orthomolecular.org
Research is limited on MTHFR but I have seen, read, spoken with many women and many physicians about MTHFR and women with this mutation are miscarrying routinely and over and over again.
Your progesterone levels are likely low if you are miscarrying at 7 weeks or earlier. They at least need to be evaluated.
I am not doing clinical research as I don’t have the set up to do it. I do interact often with physicians who are collecting information through the patients with MTHFR.
There are many things you can do to increase your chances of having a healthy full term baby. At the moment, I do not have enough information written out for you to read. A consult is required for you to obtain this information. I hope to have all this information out within a few months from now but time is of the essence right now for you and I encourage you to set up a one hour consult with me
Hi Dr. Ben.
I am 24 years old, a mother to 4 children and have had 7 miscarriages. Totaling 11 pregnancies. I don’t drink, smoke or do any drugs. I live a healthy lifestyle.
I have a double copy of A1298C. I also have Hashimoto’s Hypothyroid and I was positive for Antiphospholipid Antibodies. My Homocysteine levels were normal. I am also a carrier for Cystic Fibrosis Mutation R117H. I’ve had 1 pre-term (live) birth, at 34 weeks due to PROM.
My question is: We got the results back for all of this in Jan of 2011. I got a positive pregnancy test soon after the results and never met with my RE to discuss the results. She simply put me on what she thought I needed and treated me as a pregnant patient. I never got to ask her if this was life-long or threatening to my children and if they needed testing. Should I consult with someone about this further, or is it of any concern if I’m not TTC/pregnant? I never officially got any answers regarding my miscarriages and I guess in my heart I’m still seeking them even after getting all of those results.
Hi Rebekah –
If you have a double copy of A1298C, then you need to address it. You having Hashimoto’s thyroiditis is classic with A1298C as you are deficient in the production of tyrosine due to a defect in the production of tetrahydrobiopterin.
You need to be taking some form of biopterin or focusing on increasing the levels because the A1298C MTHFR mutation is blocking the production of biopterin in a potentially big way.
I recommend testing your child’s father for MTHFR mutations. If he tests positive for any MTHFR mutations, then testing your child should also be tested.
I know your child has at least one copy of A1298C MTHFR mutation – and he/she may have an additional one from the father. One copy of A1298C needs to be addressed as well – simply through understanding the limitations it provides and working through those biochemical limitations with proper lifestyle and dietary choices along with supplementation.
First thing – avoid gluten – completely.
Second – get your vitamin D3 levels up to about 50 to 65 and get on probiotics.
These help heal your digestive system which I know is faulty because you have an autoimmune disease. Autoimmune disease is directly linked to leaky gut syndrome, gluten and low vitamin D3.
Homocysteine levels may be normal but are your peroxynitrite levels? Ammonia levels? These are also very dangerous to developing babies – and to you. These are often elevated in those with A1298C.
Do read this article on lab testing for MTHFR mutations. For you, the Neopterin/Biopterin levels should be checked.
Thank you for getting back with me. I spoke to my GP last week and he is referring me to a specialist who can deal with our whole family.
I’ve begun to avoid gluten for both me and my children.
I am currently breastfeeding my 3 month old. Is there anything I can take outside of my daily vitamin until I see the specialist? I want to make sure I’m getting what I need and I don’t want to wait several more months to begin.
Thank for all you do in sharing what you know and responding to so many questions. I wish more doctors were as knowledgeable about this.
Hi. I just had my third miscarriage and I had a lot of blood tests and ultrasounds. My tests came back as heterozygous for mthfr mutations for c677t, with normal homocysteine levels. Everything else is absolutely normal. I am 26 years old and in excellent health otherwise. Do you think this mutation may be the culprit? What should I do to prevent miscarriage in the future? I have no living children and would very much like to have some. Also, is it strange that other than heavy periods and these misscarriages, I have had no other symptoms related to mthfr?
Hi Jane –
Having heavy periods is a sign of hormone imbalance and that can be tied to miscarriages. You may have elevated estrogen and low progesterone. You may have fibroids, PCOS or…
A heterozygous C677T MTHFR mutation is worth noting for miscarriages and needs to be addressed – but I do not think that is the only issue here.
Definitely need to address your heavy menses and the MTHFR appropriately.
Thanks for your response. I do not have fibroids, polyps, or PCOS. I was tested. Heavy periods run in my family, but miscarriages do not. Although my periods are heavier than the average woman, they still fit in the upper range of “normal”. My doctor doesn’t seem to think that low progesterone could be the culprit. However, I will try to look into any type of hormonal imbalance.
Do you recommend taking homocystex for the mthfr mutation? If so, in what dosage? Should I start before conceiving? Is it safe?
Hi Jane –
I recommend you consider taking Slow Flow by Vitanica. Take one capsule daily and then when menses begin, take 3 capsules every three hours during heavy flow. Up to six capsules may be taken daily for longer term management. One capsule may be taken daily long term. This is an excellent formulation for those with heavy menses.
I would start with 1 capsule of HomocysteX in the morning upon rising and try this for a few days. If you feel great, then take one capsule in the AM and one in the afternoon – around 1 pm or so – away from food. This should be enough for you.
You should start it now – yes – it is safe.
Once you get pregnant, stop HomocysteX and switch to Sublingual Active with Methylfolate.
There are other things to help prepare you as well which will help prepare your body nutritionally.
- Optimal Multivitamin: 3 capsules with breakfast, 3 with lunch and 2 around 2 pm or so
- Active CoQ10: 1 capsule daily
- Optimal Fish Oil: 2 capsules with dinner
- Vitamin D3: 3 drops daily to provide 6,000 IU a day. Measure your vitamin D3 levels after 3 months with your doctor.
- Bone Nutrients: two capsules at lunch and two capsules at dinner time to provide solid bone support along with calcium and magnesium.
- ProBiota 12: provides 50 billion beneficial bacteria in 12 strains. Take one after dinner nightly now and throughout pregnancy. Lot of research shows significant benefits to the newborn child in mothers who take probiotics throughout pregnancy.
If you are iron deficient from heavy menses, Optimal Iron Plus Cofactors will help greatly reduce the iron deficiency anemia and may be taken throughout pregnancy. It is very well tolerated and well absorbed.
If you have clotting during your menses, the HomocysteX should help with this along with the other nutrients.
Keep me posted.
Hi, thanks for responding again!
I ordered the homocystex and will probably try it to help me achieve a healthy pregnancy.
However, I still need a few thing clarified.
First of all, I just wanted to add that the heavy menses is not a problem at all and my iron levels are in great shape. Had them tested. Personally, I want to take as few medications/supplements as possible, given that I feel very healthy. If ever possible, I try to heal medical issues naturally through diet, rest, meditation, etc. From this, I have seen great improvements in my menses and I get sick extremely rarely. I just listed the heavy menses because I thought it might have something to do with the mthfr mutation.
About the heterozygous mutation–do you think that is enough to cause three miscarriages? They did not find any other problems with me after a lot of testing.
Also do you think that the homocystex and sublingual active folate are enough for me before and during pregnancy or should I be aggressive with my doctor and ask for metanX (which my insurance does not cover). If it is equally effective, I would personally prefer the homocystex, because it seems more natural. Also, why do you recommend the switch from homocystex to sublingual active folate during pregnancy? Is there something toxic to the baby in homocystex? What type of side effects might I experience from taking homocystex? Could it increase my risk for cancer?
Finally, out of the list of supplements to support a healthy pregnancy, which do you think is/are most important for someone who eats a healthy diet? That is a whole lot of pills to take and I need to find a treatment that I am comfortable with.
Dear Dr. Ben,
I posted a few questions above and I am anxiously awaiting your response. It is so hard to make sense of these heartbreaking miscarriages and understand what I need to do to prevent another from occurring again. It’s been a really tough year and a half. Recently it has been filled with testing and confusing inconclusive information. I know that you must be extremely busy, but if you have a few moments please respond to me.
Thank you so much
Hi Jane –
A single MTHFR mutation may or may not be enough to cause recurrent miscarriages. This is not what you wanted to hear but it is true. Numerous factors come into play which is why I have recommended the above nutrients to you.
Eating a healthy diet is excellent along with meditation and the other things you are doing; however, it appears not enough due to recurrent miscarriages. This is where effective supplementation comes into play.
All the above nutrients I recommend with the exception of Bone Nutrients as you may be able to get enough calcium and magnesium from your diet.
I recommend not taking HomocysteX during pregnancy as it has TMG in it in amounts that exceed the level I feel comfortable women taking during pregnancy. TMG is ok to take during pregnancy but not in the amounts found in HomocysteX. This is why I recommend the Sublingual Active B12 with Methylfolate.
A colleague of mine has a high success rate of women with past recurrent miscarriages do very well and retain pregnancies to term while taking 4 mg of methylfolate. The Sublingual Active B12 with Methylfolate has 800 mcg per tablet along with 1 mg of methylcobalamin. I recommend you consider taking 2 Sublingual Active B12 with Methylfolate first thing on rising and 2 more before lunch time. This brings you up to 3200 mcg of Methylfolate. The multivitamin provides an additional 400 mcg bringing it up to 3600 mcg of methylfolate.
You can take 1 capsule of L-5-MTHF 1000 which provides 1 mg of methylfolate which will bring you up to 4600 mcg of methylfolate which is desired.
I also recommend a baby aspirin while you are pregnant as well to reduce risk of blood clots affecting the baby.
Remember also the fact that it is not just your MTHFR mutation that may be affecting baby – but the baby’s father as well. He should be tested for MTHFR now.
Heavy periods are a problem as they likely denote an imbalance in hormones and are very nutrient depleting. If they still are heavy, addressing it must occur. Excess estrogen or low progresterone are reasons why some women have heavy periods.
Low progesterone is a common cause of recurrent miscarriages.
To increase your odds of a successful pregnancy, I highly recommend the above nutrients along with talking with your doctor about properly monitoring your progesterone levels frequently.
Hi Dr. Ben,
Glad to have found you!
After 2 failed IVF cycles (transferring chromosomally normal day 5 embryos) and 2 miscarriages I was tested for the MTHFR gene mutation. Tested positive for compound heterozygous mutations in the MTHFR gene. One copy of the C677T mutation and one copy of the A1298C mutation. Not really sure what all of that means. Lol.
I have been put on MetanX (2 pills a day) and also plan to start baby aspirin in conjunction with IVF #3 starting in a couple weeks.
Should I be advocating for blood thinners or anything else? What else can I do to be proactive about my care and my much wanted baby?
Thank you, thank you for any information you can provide.
Hi Denise –
Glad you are taking Metanx and baby aspirin soon. It appears your doctors are taking care of you and your future child.
Are you responding well to the Metanx? No side effects?
Baby aspirin is pretty good but Lovenox is likely better. Talk with your doctor about getting put on Lovenox because you do have risk of blood clots with compound heterozygous MTHFR.
I would also be put on:
- Comprehensive prenatal with active nutrients
- CoQ10 – 50 mg a day
- Probiotic
- Fish Oil
- Krill Oil
- Vitamin D3
Keep us posted!
I have had two miscarriages in the last three and a half years and recently found out that I have a double mutation of Homozygous C677T. My OBGYN just wants to give me Neevo DHA gelcaps and that is all. But my sister has exactly the same mutation I do and the Hematologist wants us both to be taking increased levels of Foldic Acid and have anti-coagulant shots. The Hematologist believes my miscarriages were caused from blood clots forming in the uterus. Do you have any suggestions on some medicines that are better than others? I just don’t think the Neevo is going to be enought because it does not have elevated levels of Folic Acid, B6 or B12. Thanks
Hello,
I am currently fed up with fering every day that something is going to happen to me or my baby. I am hoping you can help ease my worries. I am currently 29 years old. I have a history of Hashimotos ANA 1:80. I take synthroid and my levels are normal. I also have chiari malformation which I am sure its not related to any of this. Anyway, this is my first pregnancy. I am currently 21 weeks pregnant. I have seen a Reum. just to re-check my ANA. He did additional testing, blood clotting etc just because I asked. It came up that I am Compound Hetero MTHFR. My families on each side have no history of miscarriages, DVT, PE. However, aneurysms run on both sides (one relative on one side and two on the other). Heart disease does not seem to run in any sides and grandparents are all still living except one (all almost in their 90s). MY parents seem to be in good health and my sister just had her third child. She is 33 years old. I am the only one that seems to have Hashimotos and chiari! OY! Anyway, My protein S levels were also low but was told its common during pregnancy. My homecysteine levels is 4.0. I have seen two NYC top Hematologist and a top MFM doctor. They all stated that I can take baby aspirin and extra folic and thats it. They were not for LOVENOX. They stated because of my family history and this being my first pregnancy that if I start lovenox it can cause me to hemorrage and it isn’t necessary. I am so afraid of losing my baby or even my life. I have been taking the baby aspirin since I was four weeks due to an SCH that dissolved after 12 weeks. What do I do? As five doctors told me to stick to Vitamin D, Folic, and baby aspirin. I also took progesterone for the first 12 weeks of pregnancy but not because it was low, just because of the SCH. Do i push for injections???????????????? I frequently get nose bleeds as it is, so I am not sure if it will make things worse. My clotting times were slightly above normal recently but i am not sure if aspirin will alter it or provide false info. I know this is a lot but I am so afraid to lose my son.
Dr. Ben,
Thanks for all your work with MTHFR. I had two miscarriages and a stillbirth. After the stillbirth, they ran blood panels and found elevated anticardiolipids. I also tested positive for Lupus Anticoagulant. A year later, I successfully gave birth to my son with the use of only baby aspirin (my anticardiolipids remained elevated but just slightly on the baby aspirin). He’s almost 8. A couple of years ago, I saw a fertility specialist about reconnecting my fallopian tubes (I had a tubal during my son’s c-section). The specialist found–for the first time–that I have the MTHFR C677T mutation. My question concerns the link between MTHFR and dementia. My mother is only 63 but is in the end stages of frontal temporal dementia. She’s never been tested for C677T, but since the mutation is genetic, could C677T have caused or contributed to her dementia? What research have you seen or done on the link between the mutation and dementia?
Thank you!
Lesa
Hi Lesa –
I have yet to find research supporting dementia or Alzheimer’s to MTHFR.
However, the indirect link exists because those with dementia are typically low in vitamin B12.
Then, add on the fact that MTHFR is linked to the inability to methylate effeciently leading to a build up of heavy metals. Heavy metals are linked to dementia.
Lead is heavily implicated in dementia and high blood pressure. Lead comes out of the bones when woman are lacking vitamin D, K, boron, estrogen and other bone support factors.
I have the heterozygous C677T Mthfr mutation and I’m currently 11wks pregnant farthest I have ever been in a pregnancy . I had 2 previous miscarriages one was a blighted ovum second found out at 8 weeks baby had never progressed past yolk stage. After the last time I was diagnosed with Mthfr, fertility doctor put me on prefera ob and 81mg aspirin daily for life. Once I got pregnant they added 3 extra 1mg folic acid , and I take a crinone 8% (progesterone) but my new Ob is now saying that I shouldn’t take the aspirin because there are studies of higher chances of miscarriage. I am really worried to stop though, since this is the first I’ve been told that it will do worse than good. Really need some advice if possible.
Marie –
Ask the new OB/GYN what evidence they have for the aspirin causing miscarriage. That is the first I’ve heard of it as well.
I would rather see you taking more active forms of folic acid – such as methylfolate.
Read this:
http://mthfr.net/prenatal-supplementation-optimizing-your-future-child/2012/01/20/
Hello-
I have had five miscarriages in the last 2 1/2 years- all were by the 8th week and only once have we seen a heartbeat. Last week I found out I tested positive for c677t (single mutation) and have been discouraged that doctors in both Maternal Fetal Medicine and in Reproductive Endrocrinology feel that this finding in no way could have contributed to any of my miscarriages and that there is nothing I should do differently in light of this new finding. I have tested negative for all other blood clotting disorders and all of my auto-immune and standard genetic tests have been negative, as well. I see an amazing integrative doctor and between her, a hormone specialist, and my acupuncturist, I have been put on the following:
Prenatal vitamin
240 mg magnesium-glycinate
2000 mg vitamin C
800 i.u. vitamin E
2000 i.u. vitamin D
50 mg ubiquinol
Probiotics
EPA/DHA
Methyl Protect
Pregnancy Prep
25-50 mg c-progesterone
And we eat an anti-inflammation diet (no wheat/gluten/dairy/citrus/peanuts/sugar/caffeine).
We are going to get my husband tested, but in light of my MTHFR finding, what else would you recommend I take?
Justine –
You are on a great protocol looks like.
I recommend testing your husband for those genes listed above in the article based upon the researcher’s findings – and yourself.
Be sure to take the vitamin C at least 45 minutes away from taking the Methyl Protect as Vitamin C can destroy vitamin B12.
Thank you for your feedback! Should I also be looking into taking an aspirin or any kind of blood thinning injections now and/or during pregnancy?
I have recently tested positive for the single c677t mutation. I am about to undergo my second IVF cycle at the end of the month. I do have a 3 yr old due to our 1st IVF and have had a natural miscarriage (7wks, heartbeat day before) as well as a failed FET cycle. My question is about IVF and MTHFR. Do you feel that all of the progesterone, drugs etc is the reason I was able to carry the pregnancy? My Dr has put me on OTC prenantals, baby asprin & B complex at this point, but still feels that “it’s nothing to worry about”. My family (mother, sister, cousin) has a history of MTHFR and miscarriages. Wondering if I should be on more blood thinners or supplements during this pregnancy as precaution. My hubby has severe low count (not MTHFR tested) and I am “fine” and this is why we need to do IVF. There is a lot on the line here and I just can’t take any chances! Any feedback GREATLY appreciated!
I am a compound heterozygote. I had 5 early pregnancy losses before my daughter was born. When I was trying to get pregnant with my daughter I was taking 5,000 mcg of folic acid and 200 mcg of vit B12 plus prenatal vitamins. Everything was great, I was on Lovenox and later on switched to heparin. I had to be induced at 38 weeks because the baby “stopped” growing. Now I am pregnant again (7 weeks) but unfortunately It’s not going as great as my last pregnancy. I am taking the same supplements as before. I have no morning sickness anymore and a lot of cramping which means I will miscarry soon.
Hi, I am 26 years old and have 2 boys. I had no problems getting pregnant either time. I had a blood clot in my placenta after delivering my first and the doctor sent it off to be tested. The results showed I had 2 genes for MTHFR. I was put on Lovenox during my second pregnancy and again had no problems. I am now taking a prenatal vitamin and 2 baby asprins daily. My husband and I would like to have a 3 child but, the more I read, the more I have to stop and think! What is the likelyhood that my 3rd pregnancy will be as ‘problem free’ as the first 2? should I be taking other medications/supplements? What problems can exist with the fetus besides having a mutated gene? Thanks
Hi Dr. Ben,
You asked for comments so I thought I would share our situation. I have one son, age 15 years, and have had uncounted miscarriages. I have hetero c677T and my son (and therefore obviously, his father) has hetero A1298C. I did everything under the sun to have a second child — consulting reproductive immunologists and hematologists across the country, HCG, Lovenox, IVIG, Humira, etc. We are no longer trying (or even desiring of another child) at this point.
I found out that I have chronic heavy metal poisoning, both mercury and lead. My functional medicine doctor speculates that part of the problem was mercury interference with the conversion of Vit D2 to D3, but I wasn’t in a place to spend years treating the heavy metals and then trying again.
Plus, our son has health issues — chronic fatigue, some mood issues (though mostly removed through the removal of dietary glutamate), and a slew of genetic SNPs (++ = ACE; CBS 699; MTRR 11; +- = COMT 158, 62; MTHFR 1298; VDR Fok; MTRR 66; BHMT 2, 4, 8).
The news of the strong association between the MTHFR variations and miscarriage almost brought me to tears. Part of it is sadness that we didn’t know this, but part of it is relief because after we found out my son’s health issues I realized that there would be a strong possibility that a second child would have equally or worse health concerns, and reading this strengthens this feeling.
You mentioned above that you have not heard of a link between MTHFR and dementia. My son has an extreme sensitivity to glutamate, and glutamate levels are associated with dementia. (In fact, he takes Namenda, an Alzheimer’s med, to block glutamate, as well as strict dietary changes). I have to wonder if there is any link between MTHFR and glutamate sensitivity. Perhaps it’s primarily the other SNPs.
I’m happy to talk more about our case if it’s of any interest to you.
Lisa –
Heavy metal poisoning does way more than interfere with vitamin D – way more.
In your situation, it may be a combination of things causing miscarriages – not just the MTHFR. We like to find a reason for things that happen in our lives and, while MTHFR is definitely a contributor to the risk of miscarriage, it is not the sole risk.
I really want you to know that it is not anyone’s fault that you did not know about your MTHFR mutation while being pregnant. MTHFR is new and very very few doctors are actively addressing it.
The extreme sensitivity to glutamate may be coming from his mercury levels. According to a study that Yasko found, mercury is not that toxic to the brain in the absence of glutamate. That is a powerful statement and I need to find that article and read it.
Having said that, if you have elevated metals, then so do your children because they were in utero for 9 months. I recommend testing them for heavy metals and working on lowering them. This will likely help reduce your son’s sensitivity to glutamate.
Your son may also have GAD enzyme defects which prevent glutamate to GABA conversion.
While I have not seen a DIRECT link between dementia and MTHFR (because I have not looked for it due to time), it makes sense that dementia and MTHFR are linked. Why? Because early-onset dementia is related to lack of methylcobalamin and methylation. Lack of methylation leads to a host of issues.
Thyroid issues also is linked to neurological development in an unborn child.
As you can see – it is complex and we’ve a lot to learn -but also a lot to go on.
Make sure you test your child’s thyroid function. If it is low, then further sensitivity to glutamate is expected.
I also recommend trying Niacin. It appears that reelin downregulation is linked to hypermethylation. Hypermethylation, I have found, can be controlled by giving niacin. Why? Niacin requires methylation in order to be metabolized making it a ‘perfect hypermethylation sponge.’
Start with 1/5th tablet with breakfast and work up. If he gets flushing from the niacin, he likely doesn’t need it.
Thank you for your detailed reply. Definitely, the heavy metal toxicity has other influences, it was just the last thing we found before stopping. One note, I didn’t have active toxicity in the bloodstream, other than from fillings — most of my exposure was from when I was young, we believe.
We’ve had our son checked for mercury in a variety of ways (Cutler’s counting rules, hair tests, porphyrins), and surprisingly, he doesn’t seem to have significant mercury load. He did have aluminum (which strongly contributes to glutamate sensitivity) but we have managed to bring that down.
I don’t blame the MTHFR, since we did know about my copy, and took steps to treat it when I was trying to maintain a pregnancy. But I found it very interesting to know that if a child had survived and had had one of each variation, there would be a high chance of health issues, especially given other genetic variations in our family.
We’ve had his thyroid tested but we should get it tested again, and I wonder if it would be helpful to consider low-level supplementation anyway. I know some people are using thyroid replacement for bipolar disorder and I have to wonder about the connection.
Thanks again!
Hi Dr. Ben,
I am 29 and I have Lupus SLE and Grave’s. I am also compound heterozygous for C677T and A1298C. I’m not really sure what this means to be honest (MTHFR part) but the SLE and Grave’s have been under control since my vitamin D level was raised via 50,000 IUs D3. I have done some IV detoxing and currently I don’t have any pain associated with the SLE and I don’t take any medication for it. I am on a GF diet, eat organic, and I juice. My homocystein level is checked regularly and is always perfect.
Ten years ago, I had a missed abortion at 16 weeks, fetal death was 9 weeks. Fast forward 10 years, my husband and I have been trying to conceive for over two years. In that time, I have had a few early miscarriages. I recently went to a new endocrinologist and she recommended I start taking metformin and 4mg of folic acid. My GYN recommends taking Lovenox once I do conceive.
After reading some of the comments, it sounds like being MTHFR heterozygous is a lot more serious than I had initially thought. Can you recommend what I can do to become pregnant and stay pregnant? Thank you.
I’d like to add that today my rheumatologist prescribed Leucovorin (5mg) once a day. I am concerned since this is pregnancy category C and I would like to become pregnant soon.
Hi Dr. Ben,
I just found out this week that I have a heterozygous c677t mutation. I’m not sure if this is why I’ve had the condition of low estrogen since puberty. I’ve never had a natural period in my life and I’m 47. I’ve only had a period (ironically) when I’ve taken birth control pills. I have osteopenia, but I”m over due for a dexa scan. Hoping it’s not osteoporosis now. I am going to an ND and she had me take the test for this mutation among many other tests. I’m sure I’ll be on the right track soon, but after reading around the net, I haven’t yet found any other women with a similar problem, since many can get pregnant (I’m really sorry to hear about the miscarriages). I’ve been in a few monogamous relationships including one marriage, have had unprotected sex and have never gotten pregnant… no surprise there. Have you come across other women with this mutation who have the same symptom: no natural period and low estrogen? Could it be something else? Thank you for your insight!
Hi Kris –
From first glance, I believe the low estrogen problem is due to something else – beyond the MTHFR defect.
I’d look at:
- thyroid
- food intake
- exercise intensity
- DHEA levels
- Pregnenolone levels
- Supplement choices
- progesterone levels
- D3 levels
Those are some of the things off the top that should be evaluated.
I’m glad you are in good hands – your ND should be able to figure this mystery out
Dear Dr. Ben,
I have an urgent problem. I am 4 weeks pregnant and had two previous miscarriages (plus stage IV endometriosis). I am MTHFR heterozygous for A1298C, unfortunately they didn’t examine my husband for MTHFR. I don’t have anything else (Lupus, etc.)
My doctor wants me to take 0.4 Clexane + Baby Aspirin. Do you think that is necessary? I am afraid that it will cause bleeding.
Unfortunately if we want to examine my husband MTHFR things, it can be 2 weeks to get the results, which is too late.
Thank you, Nora
Hi Nora –
As long as your doctor monitors your clotting times and labs, I think it is a good idea to take precaution and reduce risk of blood clots. Tell your doctor your concerns and he/she will take extra care.
I should state that the risk of blood clots with 1 copy of A1298C is low; however, due to the new Turkish research citing new gene mutations being significant in recurrent miscarriage, the potential for blood clots is real.
You taking any supplement with methylfolate? If not, consider taking 1/2 to 1 tablet of Active B12 with Methylfolate daily. Allow to dissolve in your mouth – under your tongue.
How is your endometriosis now? That can cause some imbalances in hormones – well – it is actually due to hormone imbalances. I can help you with that if it is not being addressed.
Have your doctor check your progesterone levels now -
Dear Dr Ben,
Thank you very much for your answer. I take this now: http://www.solgar.com/SolgarProducts/Folate-800-mcg-as-Metafolin-Tablets.htm
Do you think it is ok? I take one tablet daily.
About my endometriosis: I was operated in December 2010. In my right ovary there was a 3.5 cm endometrioma, which was cut out. Now I have a 2 cm endometrioma again in my right ovary. I get progesteron injection (50 mg every second day) and two utrogestan capsules daily. Do you think it is enough? My progesteron level was checked on Monday together with my HCG: HCG was 220, progesterone was 68,7 nmol/L (it was around 12-13 DPO). Do you think this progesteron support will be enough?
Thank you for your help!
Nora
Nora –
Taking methylfolate without methylcobalamin is not sufficient. They both work with each other. So I do not think the 800 mcg is sufficient because it lacks the methylcobalamin.
Endometriosis will keep coming back unless the cause is identified.
I am not sure if those progesterone levels are sufficient – please ask your OB. I am not versed enough to answer that.
I am glad you are taking some progesterone though -
Dear Dr Ben,
Thank you! My doctor doesn’t want to give me more progesteron as he says progesteron can be overdosed as well and can be harmful then. I hope he is right.
Do you have any advice or vitamins for endometriosis? I have read about endometriosis a lot but it is still not clear which way to follow (diet – which diet?, vitamins, sports, progesterone cream).
Thank you, Nora
Nora –
Everything in moderation
Progesterone can be overdone –
It sounds like you are in good hands with your doctor.
Endometriosis – to me – is an environmental disorder due to toxins in the environment (BPA, plastics, heavy metals, xenoestrogens). The best way to deal with endometriosis is identify the sources of estrogen and reduce them or eliminate.
Liver support is critical.
There is not much you can do right now while being pregnant – however, once you deliver a happy, healthy child, then we can discuss it.
Right now, you need to totally avoid:
- eating canned foods as they contain high amounts of BPA
- eating, drinking, cooking, storing in plastic containers – any of them. Only use glass or stainless steel or lead-free ceramic
- take probiotics to help bind BPA – such as ProBiota 12 – 1 capsule after dinner
Those three suggestions will help quite a bit in reducing xenoestrogens from your life.
To support my comments:
“Therefore, the presence of at least one of the two bisphenols was verified in a percentage as high as 63.8% in the sera from endometriotic women, suggesting the existence of a relationship between endometriosis and BPA and/or BPB exposure.”
source: http://www.ncbi.nlm.nih.gov/pubmed/19444800
Here is more research on endometriosis and BPA – pretty frustrating isn’t it that the FDA is not protecting us??
Hi Dr. Ben,
I just found this website an I’m excited to have done so. I would def. like an opinion of my situation please! I had 3 miscarriages in a row, all before 6 weeks, then went on to have my daughter, who is 2 now. We tried for another baby and conceived twins in August 2011, then lost them at 5 1/2 weeks. Looking back at what I did with my daughter, I took an otc prenatal and a 1mg folic acid for about 6 months prior to conceiving. When I found out I was pregnant, I started taking 2 50mg’s of progesterone daily and she’s here. I didn’t, however, take anything when I conceived the twins until the day I found out I was pregnant, along with the progesterone. In Dec. 2011, my OB ran the test for MTHFR and TSH. My thyroid is fine, but I have one copy of C677T and one copy of A1298C. I started taking Neevo DHA and a baby aspirin a day. I thought I had an answer and everything would be fine. I just lost another on Monday, hcg never got above 88. My OB said they are pretty much done, there’s nothing else they can do for me and that I should see a fertility specialist and look into IUI. I am so confused and don’t know where to go from here. Any guidance would be very much appreciated!
A list of labs done already:
MTHFR – positive for C677T and A1298C
Tsh – normal
Karyotype (Me) – normal
Karyotype (Husband) – normal
Lupus Anticoagulant eval – not detected
Antiphospholipid antibody panal – all good
Cardiolipin antibody – normal
ANA comprehensice panal – negative
DNA antibody – negative
Thyroglobulin antibodies – negative
Thank you for your answers, Dr. Ben. What do you think about endometriosis and gluten? Is there a connection (some people say that gluten is the cause of endo…)?
Thanks, Nora
Hi Dr. Ben,
I had 3 early miscarriages (before 6 weeks) in the past 9 mo. I tested positive for heterozygous MTHFR C677T. My husband wasn’t tested. I saw a perinatalogist and she put me on clomid and progesterone and I am now 12 weeks pregnant. I am currently taking 81 mg ASA, 40 mg Lovenox, 200 mg DHA, 4 mg Folate, and a prenatal daily. The perinatalagist told me that she would NOT recommend that I take the lovenox, because my losses were early the MTHFR was not the cause of my miscarriages. My OB is open to me continuing the lovenox through the duration, but is also willing to let me stop the lovenox. What would you recommend I do with the lovenox? Would it be in the baby’s best interest for me to continue with the lovenox? Should I worry about any possible harmful effects of the lovenox on my baby? Should I be taking B6?
Sarah –
Early miscarriages are often linked to low progesterone. A single C677T MTHFR mutation can cause issues –
The article states that there are other mutations that must be evaluated as they can cause miscarriage – from the father also.
Some women and very proactive physicians are recommending nattokinase, baby aspirin and/or lovenox to reduce risk of clotting.
I am not sure if Lovenox has risk to baby or not – I need to research that – it is on my mind to do so – in the meantime – please ask your OB and do some research online about it. If you find something, please post it here.
Taking B6 – not sure – depends – you should have B6 in your prenatal.
I also highly recommend you take EPA, probiotic, and CoQ10 – along with cal/mag. Did you read the Prenatal Supplementation article?
I have had 2 miscarriages. Had my daughter and then 2 more miscarriages. I have recently found out that I’m heterozygous as well. I don’t now which mutation it is. But my ob/gyn put me on 1 baby aspirin and 4 mg of folic acid. But to only worry about taking it when I am trying again, pregnant or breastfeeding. I have talked to other drs and they tell me since im hetero that its not the cause of my miscarriages and that its just a luck thing. But to keep trying b/c I have been able to have one successful pregnancy. But it wasn’t such an easy ride. At about 32 weeks I had an abruption out of no where. With all of my pregnancies I was only taking a prenatal and iron b/c I’m anemic.
I had two very early (5 weeks) miscarriages in my early 30′s and my OB tested me for all of the clotting issues. The only one I tested positive for was “compound heterozygous MTHFR C677T/A1298C mutation”. She had me take high dose folic acid as a precaution before I got pregnant the next time and then a baby asprin daily the minute i knew i was pregnant. I had a wonderful, uneventful pregnancy up until the very end of the last trimester. (I stopped the asprin before the third trimester, as directed fyi). I ended up being induced 9 days early because her growth had slowed and when my daughter was born the cord was flat and had little fluid in it. She was perfectly healthy however. I plan to do the same routine the next time i get pregnant, but i’m wondering for me, a 35 year old woman with this mutation, should I be taking these supplements regardless of pregnancy for the rest of my life?
Also fyi I was born with a VSD and what they thought was a MVP but since
downgraded. The VSD closed when I was 18.
Christina Y,
With your C677T/A1298C mutation, you need the bioactive form of folate or Vitamin B-9, which is L-5-methyltetrahydrofolate, aka L-5-MTHF, aka Metafolin. Folic acid is a synthetic form of folate and should not be taken by anyone with MTHFR mutations, because your body does not make the enzymes needed to process folic acid through the intermediary stages into the final form of folate that is usable by the body. Taking L-5-MTHF allows your body to bypass the genetic defect. Folic acid competes with L-5-MTHF for space on the cellular receptor, so it is actually detrimental for you to take folic acid. Instead of folic acid, take L-5-MTHF instead, around 800 mcg/day.
You also need to take a sublingual form of methylcobalamin B12, around 1000 mcg/day. You should be taking these supplements for the rest of your life. You may need higher doses if you get pregnant again. It’s also important that all of your nutritional needs are being met and you are avoiding toxicity. Living healthfully with MTHFR mutations is much more than just taking methylB12 and folate as L-5-MTHF.
Dr. Ben sells a product containing L-5-MTHF and methylB12. L-5-MTHF or Metafolin is also made as an OTC supplement by Solgar. Jarrow and Enzymatic Therapy have been recommended on Phoenix Rising as good brands of methylB12.
Your VSD falls in the category of what are called midline defects, which are caused by insufficient folate. Your MTHFR mutation was a definite contributory factor. Read http://mthfr.net/recurrent-miscarriage-causes-look-beyond-the-woman/2012/04/06/ and http://www.biomedcentral.com/content/pdf/1741-7015-10-26.pdf “Insufficient maintenance DNA methylation is associated with abnormal embryonic development”.
I recommend you read all of Dr. Ben’s articles and the many other forum questions and comments.
Hi Dr. Ben,
Thank you so much for your extensive research on MTHFR!
After 2 recent, recurrent miscarriages I have been diagnosed MTHFR hetero a1298c. I should add that I have 2 children, ages 7 & 4 (no problems with their pregnancies). My 1st loss was early – between 5 & 6 weeks. But, my more recent loss was at 14 weeks. My baby’s NT scan came back perfect, as did my maternal blood screen. My question for you is in regards to a couple of the RPL panel tests…
My Antithrombin III came back slightly elevated and so did my PT / PTT levels.
It seems to me that these results are contradictory??? Can you tell me… Do these 2 tests have anything to do with MTHFR?
I am currently taking NeevoDHA, ba, coq10 (150), and calcium. My OB doesn’t think Lovenox is right for me because she is under the belief that because my homosysteine levels are normal, we can discount the fact that I even have MTHFR. My progesterone levels have never been a problem during pregnancy. Thoughts? Advice?
Hi Dr. Ben, hearing that both mine and my husband’s MTHFR genes may be contributing to miscarriage is very interesting, if not disconcerting for my particular situation.
I have been trying to conceive for three years. After going through dozens of fertility treatments including two IVFs, I finally got pregnant only to miscarry my identical twin boys at 9 weeks.
Subsequently my RE did some blood work and found out that I have a MTHFR mutation. After looking into my raw gene data on the site 23andMe (my husband and I have both had our genotyping done through them years ago, just for “fun”), I found that I am heterozygous for A1298C and my husband is homozygous for A1298C (we are both normal for C677T).
My RE has now put me on Neevo and baby aspirin. Is this enough? I see so many people on Lovenox also, but many doctors don’t think it’s necessary. Do I need to see a hematologist or specialist?
Hi Dr. Ben,
Just recently I had almost 2 weeks of pain and burning in my feet. I constantly struggle with joint pain… Always feeling like I have a haze over my brain and mental blocks.. I just found out that I am heterozygous for 677t. I started taking active b’s and folates and I feel so much better. It has only been two weeks but what a difference. Even in my gut! I also had my children tested and my son is the same as I, and my daughter is compound heterozygote for C677t and A1298. She is going to be 8yrs old. This might explain her severe mood swings…?? Their father and I are no longer together but have informed him that he definitely has the A1298. His background in life…started drinking at age 13, started smoking marijauna at 14, had done several drugs until we had gotten together and kept with the pot and when he had to quit for his job he went to severe drinking. So exciting to know that supplementing can shed some light at the end of gloomy tunnel. Learning alot from your website and thank you so much for your knowledge and getting these life changing discoveries out to us. Oh by the way my dr said my test came back negative, the kids dr. said they were just carriers for 677t. Good thing I always pick up a copy of the labs myself! 
I will be dropping off info to both Dr.s and hopefully take it to heart as you have. Thanks again, Melissa
Just wanted to give you some background info on myself. I was born with extra AV nodes in my heart causing tachycardia. I had heartcath ablassion done twice, second one was successful. I had a miscarriage at age 17( was forgetfull taking my b/c) Being on b/c made me feel crazy!( i read on your site that it lowers b’s/folate levels and why I felt insane ) I had successful pregnancy at age of 23 and 27. I have had alot of stomach issues with acid reflux and food feeling as it is getting stuck just below my sternum. All tests came back normal
hi there Dr Ben,
quick question on AFP ( some form of protien), is continued high levels(approx 700) harmful to the Mum.
tks….
I have had 3 healthy, full term pregnancies (8,6,4) and now 2 miscarriages around 14-16 weeks. I finally has testing and found I am hetero for the A1298C, APTT LA level of 44.7, HOMOCYSTEINE OF 7.8 and the rest of my lab tests were normal. I have a history of headaches, animia and low milk supply when nursing. I am currently waiting for an appointment with a hematogist. Should I be tested for anything else? We would like to ttc so should I start taking summplements to help my health? Thanks so much for your website and all your help.
Charity