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?