What is your MTHFR Story? Write It. Share It.

We all learned about MTHFR mutations one way or another.

The path we took to become aware of MTHFR mutations and how we handle them needs to be shared.

I am inviting you to write your story about MTHFR and I will make it a dedicated blog post right here on MTHFR.Net.

It is important you do this as others are suffering with MTHFR and are lacking the knowledge, experience and they need to read stories of people, just like you, who have been diagnosed with MTHFR mutations.

Simply send in your story on MTHFR. They are powerful to read and enjoyable.

If you are having writer’s block and not sure where to start…

Here are some guide posts (not set in stone) to help you write your story on MTHFR:

  1. Why were you tested for MTHFR?
  2. What were your initial feelings after being diagnosed with the MTHFR mutation?
  3. Which MTHFR mutations do you have?
  4. Did your doctor know what to do? If so, who is the doctor? Name the clinic and location.
  5. If you are feeling better, what are you doing?
  6. Have your family members tested for MTHFR mutations? If so, what was found?
  7. What do you think is most important for people to know about MTHFR mutations?
  8. Closing thoughts
  9. Brief bio: Name (if you want to use it, otherwise use an alias), age, location
How to send in your story on MTHFR:
  1. Write it without stopping – just write. Don’t edit anything.
  2. Go back and edit.
  3. Go to the Contact page here at MTHFR.Net
  4. For the Subject, enter: MTHFR Story
  5. Copy your entire article and paste it into the ‘Your Message’ box on the Contact Us page.
  6. I will be notified of your submission and create a blog post for you.

I look forward to widening our community here at MTHFR.Net

I look forward to reading comments left by others once you submit your story.

You will soon see the positive impact it has.

Please get the word out on this. Please Share, Tweet, LIKE, Email and tell your friends and colleagues about this opportunity to get their story out there.

Begin writing your story! :)

55 Responses to “What is your MTHFR Story? Write It. Share It.”

  1. Bobbi Gordon November 18, 2011 at 1:51 am # Reply

    Hi Dr. Ben :)

    In 2008 my husband and I were sent to a fertility clinic to find out why we had miscarrages (3). After taking many viles of blood, the tests came back saying that I have MTHFR. The clinic gave me one peice of paper and a perscription. I had so many other things on my mind i didn’t understand (and i was not informed) on how important this was. I couldn’t even tell you what the perscription that they gave was called. They basically told me that it is a genetic mutation that causes me to not absorb vitamin b’s and here is your perscription. Two months later they had me on a cycle of injection hormones. I took the hormones for one month along with my perscription and baby tylenonl daily. I didn’t get pregnant, they wanted me to get on a birth control becasue i had developed polyps from the hormones. I refused to take them or anything else they had offered becasue of how horrible i felt from the one cycle I had taken. Anyways, the next month we got pregnant. Carried full term and had a boy. (I did continue to take the perscription folate for my entire pregnancy alond with my vegetable based prenatals)

    He is 2 years old now and I just turned 30. Luckily in Feburary I started listening to FTNS radio station and over a month ago you were on Dr. Cindy’s Your Health Is Your Wealth show. I love her by the way! :) The day you were on her show I litterally had chill bumps on my arms for the entire hour. Mainly, becasue like i said, I had no idea the severity of this mutation. Most of my family on both sides have bipolar, deppression, addictions and my great aunt was diagnosed with Schizophrenia! I am one of the few that has not suffered from any of these. BUT I am the first that had miscarriages. I have worked out most of my life, even when i was a kid I wanted to eat healthier. My adult life I have always taken vitamins.Also, we try to eat healthy as well. We eat mostly whole food. Basically, paleo diet. So i think that has really been better for me.

    So soon after you being on the Dr Cindy show. I found out I am pregnant. My first appointment to see my obgyn, I asked her to test me again. I found out today that i have homozygous along with MTHFR..uggghhhh so frustrating especially that my obgyn didn’t seem to really answer my questions. So I am pretty sure you will be able to :)

    -Where do I start? Along with my vegetable based prenatal vitamin, I take a bcomplex vitamin from Garden of Life, Vitamin Code, Raw B-complex (high potency) live probiotics and enzymes, no binders or fillers. Is this ok to take or do I need to get the metafolin?

    -do i need to get my levels checked and what do i ask for?

    -i am going to have my son tested as well. Can he take the metafolin or would there be another form for toddlers.

    Thank you in advance Dr. Ben!

    Bobbi Gordon Tomball, TX (northwest houston area)

    • Dr Ben November 18, 2011 at 3:00 am # Reply

      Hi Bobby –

      I am glad the clinic found a major reason why you could have experienced the three miscarriages – the MTHFR mutation. However, I am not pleased they did not discuss it in detail with you. Lack of time I presume ….anyhow –

      Which MTHFR mutation do you have? C677T or A1298C?

      You state you have a homozygous MTHFR mutation which means you have two copies of the mutation – which is pretty serious if not dealt with properly. I always clarify that homozygous = 2 copies while heterozygous =1 copy. So please tell me exactly what you have.

      My recommendations are changing in terms of laboratory testing. Before I recommended the Methylation Profile as I felt is was specific and would provide me ample information; however, it does not provide me enough information to go on.

      That said, given that you are pregnant, I feel it is wise to truly see how you are doing biochemically.

      The Individualized Optimal Nutrtition Profile is what I am recommending these days as it truly is comprehensive. It is a 19 page report of pure biochemistry. Only then will I truly be able to see what is going on and make some suggestions. The test includes a 30 minute consult with me once I get the results in. It appears expensive – and it is – but this test eliminates guesswork, time and may reduce potential metabolic deficiencies in your unborn child.

      You eat a Paleo diet which is awesome – excellent to hear – and you supplement well.

      Your son should be tested for MTHFR – definitely. Your husband and your blood relatives should also given your family history. Their lives could change in a matter of weeks.

      Your son could take L-5-MTHF by Seeking Health which is Metafolin. I am working on a sublingual Metafolin mixed with Methylcobalamin only.

      HomocysteX by Seeking Health contains an excellent formula for those with MTHFR; however, it is not for everyone – especially if they have CBS mutations or excess methionine or SAM. This is impossible to know without further lab testing.

      Will respond more when I hear which mutation you have.

      • Bobbi Gordon November 18, 2011 at 3:26 am # Reply

        Dr. Ben

        I have C677T.. She said “they” call it (TT) if that makes any since at all.
        As far as testing and consultations, I am ok with doing anything I need to.

        My son and husband will be tested with in a matter of weeks, so i will keep you updated on that.

        • Dr Ben November 18, 2011 at 3:56 am # Reply

          Bobby –

          Perfect timing – about out for the day –

          TT makes sense yes – that means you have 2 thymines vs having 2 cytosines. This is all that it takes for the MTHFR gene to not produce an effective MTHFR enzyme. Learn more here:
          http://mthfr.net/what-is-mthfr/2011/11/04/

          Since you have the homozygous C677T MTHFR mutation, I recommend you consider the Cardio ION Profile by Metametrix. It is the same as the ION Profile except that it evaluates your cardiovascular risk as well.
          Those with C677T homozygous mutations are more at risk for cardiovascular events and that means that a potential blood clot may block blood flow and oxygenation to your unborn child.

          In the meantime, if you are not taking Lovenox or baby aspirin or nattokinase, I would call up your OB/GYN tomorrow and get a prescription for one of them – not all three! This is imperative.

          I am booked with consults until Dec 5, but I can make space for you if you need. I want you to have all the information possible so you can have a healthy child – an optimally healthy child! :)

          It takes about 2 weeks to get the results back on the Cardio ION Panel – then add on a week to get it – so that is 3 weeks. We can get it rushed which will reduce about a week or so off of it for about $20 extra.

          I would begin taking 1 capsule daily (morning) of L-5-MTHF by Seeking Health, Optimal Krill Oil and Active CoQH

          Again, get on the phone with your OB/GYN tomorrow about baby aspirin or Lovenox. I believe Lovenox may be better suited here. I am a fan of nattokinase but research is just not there yet on how effective it is at reducing blood clots.

          Let me know if you’d like to schedule a consult next week for 45 minutes to go over things – how to optimize your pregnancy. This is an area in which I am very passionate – and knowledgeable.

          How is your thyroid?
          PCOS an issue?
          Progesterone levels good? Doctors check them? If not – get them checked now.

          Stay positive. Think great thoughts! Visualize a healthy pregnancy!

          We can do a lot to minimize risk and actually increase and optimize your future child’s health! That is what I am so passionate about – we can bypass these mutations! So awesome…

          • Bobbi Gordon November 18, 2011 at 4:33 am #

            Sorry it is taking me so long to reply. My computer is running super slow today.

            I know, this is awesome that there is an answer for this! Thank you!

            My thyroid is fine. I have never been diagnosed with PCOS, but I have had surgery to remove a dermoid cyst the size of a golf ball almost 4 years ago.
            Progesteorone- i will check and get back with you, but i think they are ok. When I call the doctor about that I will have them write me a prescription of Lovenox.
            I will order the L-5-MTHF by Seeking Health, Optimal Krill Oil and Active CoQH tommorow. These are ok to take with my other supplements as well, correct? I take prenatal, vit c w/ antioxidants, velvet antler, and of course the b complex.
            I would like to set up a consult with you, and get the Cardio ION Profile by Metametrixa. I will talk with my husband to see if we can get that in the next couple of days.

            I will be working Monday through Wednesday next week. I can talk at 12pm central standard time any of those days and then after 4pm. The holidays are of course after that, but my last day at work is next wednesday so we can consult anytime after then. Whatever fits best in your schedule. :)

          • Dr Ben November 18, 2011 at 7:02 am #

            Glad your thyroid is fine – rare to have a functioning thyroid these days but a Paleo diet will definitely help your thyroid – no wheat!

            The L-5-MTHF, Optimal Krill and Active CoQH will be fine with your other supplements. The Optimal Krill Oil is not going to be a problem with Lovenox. More than 3 grams of EPA/DHA combined with Lovenox would be a bad combination; Optimal Krill Oil has much less. I chose Optimal Krill Oil because it contains a potent antioxidant which is needed with MTHFR mutations.

            Please call 800-689-8221 to schedule a consult. Schedule what works for you. Let them know I’ve fit you in specially and I will email my team now so they know as well.
            At the same time you may order the suggested supplements and the Cardio ION if you like.

            Have a great weekend.

      • Brad November 19, 2011 at 8:45 pm # Reply

        Hi Dr. Ben,

        My doctor told me I’m heterozygous for the A1298C mutation and should begin taking 5-MTHF. But you say people who have CBS mutations, excess methionine, or SAM shouldn’t take HomocysteX without further lab testing. Can you provide more details about this? I’ve spent a great deal on various lab tests recently and, to be honest, I’m a little reluctant to have more tests done unless it’s really needed.

        • Dr Ben November 21, 2011 at 9:12 pm # Reply

          Brad –

          I will revise my statement.

          What I should state is this:
          – If people take HomocysteX and feel excellent, then no lab testing is truly needed right at the moment.
          – If people take HomocysteX and have symptoms, then there are likely other mutations at play or other factors which need to be determined.

          Given that you are heterozygous A1298C, your symptoms are not as severe because your mutation is not severe.

          I agree with you that lab testing is not warranted in all cases and, in fact, I really want to see doctors ordering less lab tests and asking more questions to their patients. Lab tests are expensive and some are not worth it.

          It depends on the individual – and on the mutation(s) present.

          If someone has CBS mutations, they should limit their intake of vitamin B6 as this worsens those with CBS mutations.

          If one has excess methionine, taking methyl donors such as TMG, methylcobalamin or methylfolate may worsen symptoms.

          MTHFR mutations and their protocols to deal with them are VERY individualized.

          • Brad November 23, 2011 at 4:01 am #

            Dr. Ben-

            Thank you for your reply and the additional information.

            The original reason my doctor tested me for MTHFR mutations was my long-standing history of depression and anxiety. Those issues run in my family and she thought there might be a genetic component to them, possibly related to a MTHFR mutation.

            I plan on trying HomocysteX–perhaps starting with just one capsule a day, or even part of one capsule–and see if I notice any change in my mood. But I do have an additional question: if I at some later point decide to have further lab testing done, like the Methylation Profile, would taking HomocysteX affect those lab results? Or is it best to have the lab tests performed before beginning supplementation?

            Thanks again for your advice and have a great Thanksgiving.

          • Dr Ben November 23, 2011 at 8:28 am #

            Brad –

            Depression and anxiety are related to A1298C – definitely. They are also related to COMT and MAO A mutations.

            I would definitely start with a low amount of HomocysteX – 1 capsule should be a good starting point. I’d suggest 3 days on and 2 days off.

            I am not so fond of the Methylation Profile these days. I am not impressed with the results I have been getting – they are incomplete and leave too many questions. I am going to start to recommend other lab tests instead. I will update the article about the Methylation Profile.

            HomocysteX would definitely alter the lab results –

            I am of the school where I prefer to try things if not dangerous as it is more effective than labs – and also a lot less expensive. We know you have a A1298C mutation – one copy – so trying some HomocysteX is inexpensive compared to a $400 lab test. If we cannot find improvement with a few different trials and lifestyle/dietary changes, then labs may be necessary.

            Have a great Thanksgiving as well ;)

  2. Thomas' mom November 20, 2011 at 6:27 pm # Reply

    Hi Dr. Ben,
    I am mom to a 9 yo boy. We adopted our Thomas from Chelyabinsk, Russia at age 11 mo. His birth family is of Bashkir heritage. Thomas has been diagnosed with moderate learning disabilities, ADD and is having increasing difficulty in school. We are consulting with a naturopath to come up with a plan. The school is beginning to talk about “medication” to help Thomas become successful in the classroom. We are exploring all other options. Thomas has no characteristics of FAS and surprisingly his birth mom probably had good prenatal care and did not abuse drugs or alchohol. Your site really piqued my interest when I read about your connection/interest in Russia.
    Our naturopath ran bloodwork and here’s what we found out. Thomas is anemic, low on vitamin D (we live in OR but he is low even by OR standards) and MTHRF A1298C mutation Homozygous. C677T mutation was not identified.
    This is my first introduction to the MTHRF world. I have a couple of questions right off the bat. Do you know if this is more common than average in Thomas’ ethnic group or the general Russian population? I’m pretty sure this next one is here on the site somewhere but I am having a hard time finding it – what is the recommended treatment(s)? I know that last one is a wide open question but if you could just let me know the most popular effective treatments at this point that would be great.
    Thank you

    • Dr Ben November 21, 2011 at 9:35 pm # Reply

      I am pleased that you are actively working with a naturopath and seeking alternatives for ADD/ADHD.

      Those with homozygous A1298C are classic presenters of ADD/ADHD and this mutation is HIGHLY relevant in your son’s case.

      It must be addressed.

      HomocysteX by Seeking Health may prove useful for him.

      Medications will not be a good idea in his situation as he will not be able to metabolize them well and this leads to further complications.

      Low vitamin D is also implicated in ADD – so working on improving his Vitamin D status is critical. I highly recommend you work with your doctor on this. I do recommend you consider Vitamin D360 by Seeking Health as it is a liquid vitamin D3 in a simple pure virgin olive oil base. Each drop contains 2,000 IU of vitamin D3. Comply with your doctor’s recommendations for dosing.

      I am not sure which anemia your son has – he may have iron deficient anemia or B12/folate anemia – or both. Anemias can definitely complicate his mental function.

      HomocysteX will help improve his B12/folate anemia but not an iron deficiency anemia. Consider Optimal Iron Plus Cofactors. It is VERY easy on the stomach and has the added nutrients to assist in the absorption of iron which are critical to reverse an iron deficiency effectively. Comply with his doctor’s recommendations.

      I would be careful how much protein you give him as protein increases ammonia. His mutation makes it difficult for him to process ammonia which is why HomocysteX is suggested. Protein is definitely needed but having nutrients on board to help eliminate the ammonia is critical. Again, this is why HomocysteX is suggested.

      Probiotics are critical as non-beneficial bacteria increase ammonia levels. This must be addressed through probiotics, antifungals and natural anti-bacterials that are relevant to his digestive flora.

      ProBiota 12 by Seeking Health is a potent probiotic which is recommended to take after dinner. Consider 1 capsule of ProBiota 12 after dinner.

      If he needs antifungal and antibacterial support, talk with your physician. Microbial Defense by Seeking Health assists with this process but should be monitored as you do not want to kill the harmful yeasts and bacteria too quickly as this can cause headaches, muscle pain and fatigue.

      If your doctor would like to talk with me – I am available. Have them contact me through the Contact Us link.

      To answer your question about his ethnic group and MTHFR, I have not seen much on Russian population and MTHFR. I do not actively look for it though.

      Keep me posted please by commenting again in a few weeks or so.

      In health,
      Dr Ben

      • Thomas' mom December 12, 2011 at 2:41 pm # Reply

        Good Morning,
        Thanks for your reply. I somehow missed it until today. I have forwarded it on to my Dr. She has started us on a supplement program in the meantime that seems to be generally in line with your recommendations.
        Thomas’ classroom teacher last week reported that he seems to be a bit more focused in the classroom and participating more at appropriate times. Good news!

        • Dr Ben December 12, 2011 at 8:12 pm # Reply

          Excellent! Each week I am learning more and more about MTHFR and all the little tiny nuances that actually may make a huge impact on someone’s health and mental state – so check in often.

          If Thomas continues to improve – fantastic. If he gets ‘stuck’ at a certain point and no longer improving, let me know. We want Thomas to excel and have a blast livin’

          • Thomas' mom December 15, 2011 at 3:44 am #

            Thanks Dr. Ben. I got some interesting/confusing info. today.
            Everything we have done so far has been under the direction of our naturopath. We took Thomas in for a follow-up with his regular pediatrician and gave her all the results of his blood work and recommendations from the naturopath. The ped. had not even heard of MTHFR so she did a bit of research. She got back to me today with the results of her research. She consulted with a Dr. Rob Steiner at OHSU here in Portland. He told her the homozygous A1298C should be considered irrelevant! unless Thomas has elevated homocystiene or elevated blood folate. Is this the usual response from mainstream Drs.? How can I present the other side of the story to his pediatrician to show her that it is not irrelevant?

          • Dr Ben December 15, 2011 at 6:15 am #

            AHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH!

            This is the usual response from doctors – yes.

            Homozygous A1298C or even heterozygous A1298C MTHFR mutations DO NOT SHOW ELEVATED HOMOCYSTEINE!!

            However – these mutations completely botch the BH4 cycle which is needed to process ammonia, balance nitric oxide, and create neurotransmitters.

            Does Thomas show any symptoms of ADD/ADHD, speech delay, chronic infections, muscle pain, weakness, fatigue, autistic spectrum, bits of rage, depression, insomnia, nerve issues?

            You cannot research MTHFR in an afternoon – you cannot do ‘a bit of research’ – believe me – I know first hand. MTHFR is complicated.

            The other issue is you have to think outside the box for MTHFR mutations outside of research – especially for A1298C mutations because there is very little research on A1298C mutations.

            Consider measuring his Neopterin/Biopterin levels. Your naturopath should understand why. If not – then tell them to call Metametrix Labs and they can consult with the doctor on call.

            Sometimes you have to realize that you can explain until you are blue in the face to people why something is as serious as MTHFR – but it is a waste of time.

            What I recommend is continue working with your naturopathic, pediatrician and work with a doctor who is knowledgeable about MTHFR. That is a good choice.

          • Thomas' mom December 16, 2011 at 9:07 pm #

            I can’t seem to reply to your latest comment so I am replying here.Thank you. Yes, to your question. Thomas has been diagnosed with ADD. He also has several learning disabilities. This is why we consulted with a naturopath, who ordered the bloodwork that led to our discovering his MTHRF A1298C homozygous mutation. I would like to offer some information to our pediatrician to see if I can get her on board with the fact that this needs to be treated. (and we’ve have seen some small signs that the treatment so far is helping). Can you recommend some articles, or clinical trials, or whatever that would be helpful in convincing our mainstream pediatrician?

          • Dr Ben December 20, 2011 at 9:15 am #

            Tell his doctor that your son is unable to effectively make neurotransmitters because his BH4 pathway is not functioning properly due to A1298C mutations.

            Test your child for biopterin/neopterin levels along with peroxynitrite, super oxide, ammonia, urea, RBC methylfolate, glutathione, urinary amino acids such as glutamine, taurine, histidine, glutamate, glutamic acid.

            Those results will show his doctor that he is in need of help.

            Your child’s biopterin levels are likely low, ammonia likely elevated.

            Probiotics are critical.

            Test your child for Celiac as well.

            Articles, trials and research is limited here – too new.

            Most attention is spent on the C677T mutation.

            I am happy to talk with your pediatrician though – have them call 800-547-9812 and ask to set up a Doctor-Doctor consult (free).

      • Thomas' mom February 7, 2012 at 6:43 pm # Reply

        Dr. Ben, here’s an update. My naturopath spoke with you a couple of weeks ago and came away with TONS of advice and information to sort through, Here’s where we are today still treating with iron for low ferritin and vit.D. He takes a good natural multi, fish oil, pro-biotic, Vit. D & iron (working on deficiencies), and was on 5-MTHF 1 mg.. Stopped MTHF when he had a bad headache. Have re-started the MTHF at 1/2 capsule (.5 mg). I am wondering about his multi-vitamin. The multi does have 400mcg folic acid and 20 mg niacin (niacinamide). Is it a problem to continue this multi.? Is the nicinamide okay or do I need to find niacinic acid? I don’t want him to have to take any more pills than necessary so I really like the comprehensive multi. I hope to eliminate the separate Vit D and iron after the levels are up to acceptable. Of course, we are working on the suggested diet and environmental changes too. Thanks

        • Dr Ben February 8, 2012 at 2:29 am # Reply

          Hello –

          Consider this chewable multivitamin for him. One tablet contains 200 mcg of methylfolate.

          If you give him 1 tablet in the AM with breakfast and 1 with lunch, that will provide 400 mcg of methylfolate.

          If you are still not making headway with his low serum ferritin, consider Optimal Iron Plus Cofactors. This is very well tolerated and does increase iron levels due to the necessary cofactors which assist iron absorption.

          This is a good combination for him and it is what my children use.

          • Thomas' mom February 8, 2012 at 5:09 pm #

            Thank you. Just to clarify, is 1 mg equal to 1000 mcg? Do you consider it a problem to take a multi that contains folate in addition to the methylfolate? I would like to use up the multis that I have if it is okay before switching to the chewable that you have suggested. I am not sure where we are with the serum ferritin at this point. Waiting a bit longer before we have to do a blood draw for a followup. If headaches recur should I decrease the methylfolate further?

          • Dr Ben February 8, 2012 at 5:57 pm #

            1 mg = 1000 mcg

            It is ok to take a multi with folate and methylfolate for a little while. Main goal is to not elevate folic acid levels in the blood beyond the normal levels due to associated risks with that.

            If headaches occur, decrease the methylfolate and potentially sulfur-containing supplements as well. Providing a bit of niacin in the form of nicotinic acid may help reduce the headaches as niacin eats up methyl groups. Biting this niacin tablet in 1/4 and swallowing is a good amount for an adult to start with. Flushing may occur. I just took 1/2 of this tablet recently and have no flushing personally – but we are all different. Children should start out with a tiny piece and swallow it – not chew it.

          • Thomas' mom March 15, 2012 at 3:12 pm #

            Dr. Ben,
            Following up on our past conversations-
            I am still working with our naturopath (you did a Dr. to Dr. consult with her) and making adjustments with diet/supplements as needed. We have a follow up visit soon with our developmental pediatrician. I have asked him to order some blood/lab work recommended by you and naturopath. If he orders the tests insurance will pay at a higher rate. He is willing to order the tests except for the histamine. I would like to give him some more information so that he understands why this is needed and hopefully convince him to order it. I also asked him if he is familiar with MTHFR mutations. His response is below. It is a bit encouraging that he actually knows what it is but it sounds like he doesn’t know much about A1298C. It is doubtful that I can get him to do a Dr. to Dr. consult. Of course he wants studies/research etc. What can I show him? Thanks again!

            Pediatrician’s response:
            I am familiar with MTHFR as an enzyme involved in homocysteine metabolism and blood clotting. There does seem to be a group in Turkey looking for connections between MTHFR polymorphisms and various disorders including ADHD and essential tremor, but I have not seen any independent research on the topic. I would be happy to discuss that further with you as well.

          • Dr Ben March 15, 2012 at 8:50 pm #

            Hello –

            You may show your pediatrician this page on MTHFR Research

            The reason to measure histamine levels is because histamine breakdown is controlled by methylation.

            If one has elevated levels of histamine, then we know right off that they lack methyl groups and we must supplement with methylfolate and methylcobalamin.

            Histamine levels are important to measure – in pregnancy and in general – as they are a useful indicator of methylation.

            Here is a study on histamine levels and pregnancy outcomes.

            Here is a study linking improvement in allergies with vitamin B12 – which is a methyl donor when used as methylcobalamin. Allergies are related to elevated levels of histamine.

            This study further supports the need to evaluate histamine and clearly states that histamine requires methylation in order to be catabolized.

            When working with MTHFR, we have to think outside the box and beyond the research.

            There are so many factors why some studies on MTHFR show one thing and others another – and as physicians, we must be able to be aware of this and evaluate the research accordingly.

            MTHFR is related to methylation defects. That is the best way to look at it.

            MTHFR is not just limited to lowering homocysteine levels as homocysteine levels can be lowered effectively even with MTHFR defects – by bypassing the MTHFR mutation with vitamin B6, betaine or methylcobalamin.

            MTHFR – since it is critical in providing methyl groups – is important is so many biochemical functions:
            – neurotransmitter creation and degradation
            – histamine degradation
            – DNA methylation
            – detoxification of xenobiotics and other toxins via methylation

  3. Rozi December 13, 2011 at 5:16 pm # Reply

    Cool website! Ok here’s my story! So lets see i was 17, on birth control pills. I was at worked and experienced TIA symtoms, Lt arm, facial numbness tingling, followed by bad HA. Alarming for sure. Didn’t do anything about it at the moment, symptoms went away. Made Dr. appt with my gyno Nurse Practitioner. I told her what happened, she got a worried look on her face. Said you know, I’m gonna order some blood work, just in case I think we should check this out, so she ordered some stuff, Factor 5 Leiden, the MTHFR, some others. Had the blood work done.
    About a week later i get a call from her office, the receptionist, says “you have a postive MTHFR C677t, A1298C. Stop taking your birth control, make an appt with a family Dr. asap.” I said “what? what the heck do i have? c77mh huh?” She said,” I’m sorry I dont know, exactly what it is,” but she read me this weird lab report, something about thrombosis blah blah. Scared the shit out of me, I thought i Was dying lol.
    I made my Dr. appt, dude had no clue what this thing was, basically read me the lab report again, wrote me a prescription for 1000mg folic acid, told me to take aspirin. Aspirin 325mg ended up giving me INSANE heart burn, i was spittin up blood, pretty sure I had ulcers, so I stoped the aspirin. Went down to 81mg Aspirin, still had heart burn, stopped it, and no heart burn now.
    Never had health problems til my little TIA scare, except kidney stones! Now i researched if this MTHFR thing could be at all related, and was surprised to find websites that said YES! they can be related! Something about enzyme and an acid breakdown, i want to say pyruvic acid, has somethin to do with uric acid, but it’s been awhile can’t remember. So multiple kidney stones in my kidneys, had gout once. Who knows may or may not be related.
    So since i happen to work in an MRI dept at our local hospital, scanned my brain, found that i did have a tiny stroke, poss from my TIA symptom day. Who knows. Had this crazzy incident one night, woke up with my whole body numb and tingling, freaked me out. thought it might be blood sugar, i’m not diabetic or anything, but ate a cookie, felt weird as hell in my mouth, i was like like this aint right, went to ER, they did cat scan, told um my weird little MTHFR mutation, dude had no clue again. They thought i was on drugs which irritated me! BAsically was told to make appt with neuro doc. So i did.
    Went to his office. by the way still had some like on and off again weird numb/tinglng, weird sensation, like peripheral neuropathy or somethin. Dr. ran more blood tests, for lupus, antibodies, vitamins, b12, others. all normal. Also mentioned MS, dont have it thank god. NAyways, never got any answers about this weird numb tingling feeling I still get occasionally. i Have no disc problems, so it’s not from that. again who knows!
    Everytime I see a Doc they refer to Factor 5 leiden, i have to remind them, hey, uh i dont have that …. lol, they get a funny look on their face, i’m like i have the MTHFR one…. They’re like oh… then disapear to google it on theire little palm pilot things haha. So i take my vitamins, extra folic acid. And my lesson in all this is, Dr.’s don’t know it all! You have to be your own advocate. I know more about it than any Doc I’ve seen, so far my understanding is. Folic acid keeps homocysteine levels down. Aspirin is just prophylaxis. Eat right foods with lots of vits and minerals. I’m 23 now, and still alive. My sister found out she has the same little mutation, she just got pregnant for first time, Dr. loaded her up on folic acid, taken aspirin. We must have got it from some side of our family, they all have kids, so i’m not too worried. Sister just got a call from a lab saying, uh.. you have some weird antibody… prolly the MTHFR again, hopefully… waiting to hear back. so thats my story! :)

    • Dr Ben December 13, 2011 at 7:28 pm # Reply

      Rozi –

      Cool name ;)

      Thanks for sharing your story.

      Did your doc give your folic acid or methylfolate? Taking 1000 mcg of folic acid is not a good idea for those with MTHFR. You should be taking L-5-MTHF instead.

      Your numbness and tingling may be due to additional mutation – CBS mutation – or it may be that you are not able to break down some metabolites which are toxic. I am also wondering if you are very low in vitamin B12.

      I am seeing a lot of numbness and tingling in those with A1298C and I believe it is because of the inability to process certain metabolites such as peroxynitrate, ammonia and others.

  4. Kimberly December 19, 2011 at 11:04 pm # Reply

    Hi Dr. Ben,

    It took a few diagnosis to finally discover the MTHFR disorder. First, the OBGyn found a complex cyst on my right ovary during a routine pap smear. To monitor it, I had an ultrasound that also found a blood clot located in my uterus as well. At this point, I’m going for another ultrasound at the end of December 2011 to make sure it hasn’t grown. We’ve been monitoring it since last July, and as of yet, the cyst remains the same size. In any case, the OBGyn recommended that I meet with a hemotologist to get blood work done, and the MTHFR disorder was unearthed. This now explains years of speculation that I have ADHD with poor concentration and exciteabilities at times, depression, anxiety, plus I’m considered highly sensitive. Being newly diagnosed, I’m on the fence about how to proceed with further tests, I’m concerned that there’s elevated toxin levels in my body. I wish to avoid cancer, heart disease, embolisms and chronic disorders. Do you have any suggestions about good detoxifying methods for the disorder? What folic acid, B6 and B12 products do you recommend? What other supplements are also recommended? I read the other posts in addition to various sites about miscarriages and infertility issues, etc., and was floored that my son, 2 1/2 years, was conceived in one week at the age of 40. He was born healthy. The only complication was a torn placenta in the first trimester that prompted an emergency room visit, and large amounts of blood loss for approximately two weeks. I wonder if there’s a correlation between that event and MTHFR? Could this also have caused the cyst or uterine clot? I found this awesome chart see http://www.mindmeister.com/12721370/mthfr-treatment. Please respond with insight. I want to live a long healthy life, too much is at stake.

    Thanks.

    • Dr Ben December 20, 2011 at 8:37 am # Reply

      Hi Kimberly-

      The uterine clot may be caused by the MTHFR – a definite link exists between clotting and MTHFR.

      Which MTHFR mutations do you have?

      I have a TON of suggestions about how to deal with MTHFR. The good news is that I am also a specialist in Environmental Medicine and passionate about epigenetics. All these tie into helping increase the odds of having healthy children and living a long life.

      I know the mind map you are referring to – that is made by Dr Stephen Smith – he is here locally in Washington state – about 5 hours from me. I plan on meeting with him this year – we need to get together and talk MTHFR shop.

      Do not proceed with other tests quite yet until you speak with someone who is very knowledgeable otherwise you may be testing for a lot of things that are worthless to know – and missing things that you need to know. I also like to use as little lab testing as possible as it is expensive and if one takes a thorough history, lab testing is not needed as much.

      A consult is highly recommended. I say this often because I am a firm believer that each individual is unique and so is their biochemistry.

      There is no blanket protocol for MTHFR or any condition for that matter.

      I am booked out until the New Year for the most part – if not completely –

      Please call my team at 800-547-9812 and they can set you up. I have some questions that need answering prior to the consult as well.

      Have a great holiday and I look forward to the potential opportunity to help provide you with excellent information.

  5. Aleina December 23, 2011 at 9:05 pm # Reply

    I was diagnosed with MTHFR three years ago after it was discovered that my first baby had very severe spina bifida. We made the incredibly heartbreaking decision to end the pregnancy. I was diagnosed compound heterozygous and told to take 4mg of folic acid and 250 mcg B12 through the postpartum period and through pregnancy when we decided to try again. I did that (plus baby aspirin, after researching on my own) and went on to have a very healthy, full term son. I have been researching MTHFR more and more since then and realizing that it could be related to many of the issues I have struggled with my whole life. I LOVE your website and am so thankful that someone out there is researching this further, as the doctor who diagnosed me (a maternal-fetal medicine specialist) was very sure that it was no big deal as long as I took the vitamins. I stopped taking folic acid months ago and have a bottle of L-methyfolate (5-MTHF) now, and have been taking two a day (2000mcg total) but I have no idea if that is a good amount. I was told I could not overdose folic acid, but is l-methylfolate different that way?

    • Dr Ben December 24, 2011 at 7:39 am # Reply

      Aleina –

      I’m sorry to hear your story. I believe you made the right decision as difficult as it was.

      Compound heterozygous MTHFR mutation can be quite serious if left untreated.

      Taking folic acid in excess can be an issue. There are studies linking folic acid to proliferating pre-existing cancer cells and this makes sense since a common drug, Methotrexate, is designed to block all folic acid in the body in order to ‘starve’ the cancer cells.

      Methylfolate is a very new nutrient and is currently deemed safe at higher doses yet I still am cautious as it is too new to safely say one way or the other.

      A colleague of mine, who is a midwife and naturopathic physician, recommends women take 4 mg of l-methylfolate during the pregnancy in order to reduce the risk of miscarriage and birth defects. I have requested the research study to back that comment up and have not yet received it from her.

      The best way to know if you are getting enough methylfolate is to see how you feel – and also by testing red blood cell methylfolate yet I have not found a lab who will test that for me yet.

      It is also not good to just take methylfolate by itself as it can get trapped. To prevent methylfolate from being trapped, take methylcobalamin with it.

      Continue to take your 5-MTHF and add a sublingual tablet of Sublingual Active B12 with Methylfolate with it.

      It is not all about methylfolate and methylcobalamin though with MTHFR. It is also about the likelihood of excess toxins as those with MTHFR are not as able to process toxins like those who do not have them. This leads to women being more toxic which means the developing baby is exposed to this directly for 9 months while in utero.

      There are ways to reduce exposure to the developing baby and ways to detox prior to.

      Lot to discuss here -

      • Aleina January 3, 2012 at 11:40 pm # Reply

        Thanks so much for your reply.

        I have been taking a normal (not active) sublingual b12 along with my other supplements–will that help with the 5-mthf for now, or should I only be using the active form of that as well?

        I am very interested in starting to detox, especially since I want to have another baby in the near-ish future (like next year, maybe). Do you have any suggestions for a starting point? We eat fairly well, lots of veggies, green smoothies every day, generally whole foods and mostly organic. I have been vegetarian for over a year now and usually avoid dairy as well. I know you have to be careful with detoxing so I want to make sure to do it the right way.

        Also, I saw a comment from you elsewhere mentioning other supplements to include, specifically a liver support? Can you tell me what that would be?

        Again, thank you so much for creating this site and being such a great source of information!

  6. Katy January 23, 2012 at 1:45 pm # Reply

    I was told on frinday that I have MTHFR gene mutation and am herterozygous. I was told nothing more in terms of details. I was told this at the Recurrent Miscarraige Clinic at a hospital in London and was told I am more prone to blood clots, but this is not a reason for the miscarriages? I had 3 miscarriages in the last 13 months and have one daughter who is just 2.
    I was told that I have been referred to a Haemotologist but that I should be taking 5mg of frolic acid.
    I am really confused about whether this genetic mutation could be a contributing factor to the miscarriages or not…..
    Katy

    • Katy January 24, 2012 at 7:53 am # Reply

      I just wanted to add… That I have read on your site that the man should be tested too, as if he is heterozygous too than this has an impact. My husband did have blood tests but the consultant did not say there was anything unusual about his results. However we do not know whether they tested him for MTHFR in the first place.
      We asked for copies of all test results but apparently we have to write to the Legal dept at the hospital in order to access them in detail (seems crazy) although we will receive some correspondence with an overview of results.

      The consultant also did not tell me that I need a prescription to get 5mg of folic acid, so I contacted my doctor who has now prescribed this for me.

      I have also made an app to see a private gynaecologist at the end of this month to get another opinion.

      Thank you
      Katy

      • Dr Ben January 25, 2012 at 7:18 am # Reply

        Katy –

        I apologize – I write to many people a day. Which MTHFR mutation you have?

        Taking 5 mg of folic acid is not appropriate. You need to take methylfolate.

        Folic acid does not do much – especially if one is homozygous for the C677T MTHFR mutation.

        • Katy January 25, 2012 at 8:40 am # Reply

          Thank you for your reply. I’m sure you must be very busy….!

          I am heterozygous and the only other thing he told me is that I am prone to blood clots and should be taking 5 mgs of folic acid. He said that my type of MTHFR mutation is not a cause of the 3 miscarriages I have had in last 13 months but I’m not convinced this is correct. We also don’t know if my partner has the mutation too.

          I am mainly interested to know if it could be a cause and what I can take to stop this happening again.

          I really appreciate your responses.

          Thanks

          Katy

          • Dr Ben January 25, 2012 at 10:55 am #

            Katy –

            Heterozygous what? Which MTHFR mutation?

            It definitely can be contributing.

            If you are prone to blood clots, then taking 5 mg of folic acid is not going to do much.

            If you are prone to blood clots, how can that NOT be relevant to miscarriages? If you get a clot in the umbilical vein, you miscarry. That simple.

            Test your partner.

            Yes – I’m a bit busy :)

  7. RICH January 31, 2012 at 3:37 pm # Reply

    Hi

    Most comments I’ve seen here are from women, so I will add a male story. In 1999, I experienced abnormal fatigue when exercising or doing anything strenuous. My wife insisted I see a dr. about it since I was only 42 at the time and normally had boundless energy. Dr first thought it was asthma. It wasn’t. Suggested a chest x-ray. That revealed I had double pneumonia, so they put me in hospital for what was supposed to be a few days. After the 5th day I was no better. Then things went bad. I experienced a pulmonary embolism. Luckily I was already hooked up to some oxygen. Further testing revealed the blood clot in the leg which traveled to the lung causing the embolism. Blood tests revealed the C677T MTHFR gene mutuation. I was put on coumadin and they said I would most likely do that for life. I quickly recovered and have lived a normal existence since then. I have regular protime tests to monitor the blood. I was told this gene is common in people with northern European origin, which I am. They also said it would be a good idea to have my 2 daughters tested to see if they inherited the gene. Needless to say I was lucky to have been in the hospital when my “event” occurred. I’ve noticed that some people take folic acid that have this mutation. Should I be doing that? Is there anything else I should be on the lookout for?

    • Dr Ben February 1, 2012 at 3:36 am # Reply

      Hi Rich –

      Thanks for sharing your story. Men are typically not very prone to taking care of themselves or sharing their health situation with others. It is great to see you proactive.

      Folic acid is not the right answer with C677T MTHFR mutations. You need methylfolate.

      There are other things as well – liver support, methylcobalamin, vitamin B6, proper diet, lifestyle changes, detox protocols.

      • Rich February 1, 2012 at 4:46 pm # Reply

        Dr. Ben

        Thanks for the quick reply. Ok, so where does one find methylfolate or methylcobalamin? Is it over the counter at the drug store? Is it in certain foods? How do you know how much to take when you do get it? What are the benefits? What about the Vit B6? How much do I take of that? My doctors never mentioned these things. Just to limit the vit K intake and take occasional folic acid, but I stopped that a while ago. Sorry for all the questions. Thanks

        • Dr Ben February 2, 2012 at 3:02 am # Reply

          Rich –

          Methylfolate is not found in foods – at least not to my knowledge. Folinic acid is found in foods but the most active form of folate, methylfolate, is not found in foods. I am hoping to come across some research to prove me wrong here.

          This does not mean that one should not eat foods high in the best forms of folate. The most folate is found in Lima Beans of all things. Cooking dark leafy greens, which are high in folate, destroys the folate. Thus, it is best to eat raw greens in order to obtain the folate. Foods that are enriched with folic acid are nearly worthless for those with MTHFR mutations and should be avoided.

          You may find sublingual methylcobalamin with methylfolate here.

          You may find a blend of methylcobalamin, methylfolate and vitamin B6 in HomocysteX here in a vegetarian capsule.

          It is best to start low and work up in dosage. I typically suggest people to increase the dose by 1/2 to 1 tablet every 7 days.

          Work with your doctor in order to optimize the dosage.

          If you find yourself becoming irritable, impatient, cannot sleep, sore muscles or otherwise not well, you are likely are taking too much methylfolate. Reduce the amount you are taking.

          Liver supportive foods and nutrients are recommended as well as essential fatty acids, CoQ10, probiotic and vitamin D3. These are recommended for everyone no matter if having MTHFR or not.
          These may be found at http://www.SeekingHealth.com

          I am glad you’ve stopped taking standard folic acid. That is not advised to take as you cannot metabolize it well due to the MTHFR mutation.

  8. Becky February 16, 2012 at 3:12 am # Reply

    Hi Dr. Ben! So glad to find your website, it’s really opened my eyes as to how destructive this mutation can be. I apologize in advance as I have bad brain fog today so my story might be confusing (and probably long), but wanted to see if you could provide any information for me.

    My story:
    Since around the age of 19, I’ve had recurrent sinus infections and vertigo. Along with this came weird neurological symptom (tingling in extremities, burning sensations, feeling like the ground was moving underneath me), extreme anxiety, depression, etc. My symptoms were intermittent and at the time, I was too scared to go to the doctor (I have major health anxiety) because I was too afraid they would tell me I had MS or something seriously wrong with me.

    Fast-forward to 2007. I was 24 years old and starting birth control for the first time. I immediately started having joint pain, muscle pain, strange fatigue, MORE neuro symptoms and it was all extremely scary. I was absolutely convinced I had a brain tumor or was dying. I honestly didn’t even think it was related to the birth control. I was also weaning myself off of Xanax and thought it might be withdrawal from that. And it may have been a little of both. Anyway, this finally led me to get a multitude of blood tests for autoimmune diseases and such but everything came back fine. I stopped being sexually active at the end of the year and decided to go off the birth control. I noticed a huge difference in the way I felt. The pain had lessened along with other symptoms. Then again, I had also started taking Zoloft so I felt a lot better mentally as well.

    I got married in early 2008 and tried to take birth control again. I immediately got sick, was bed bound, in lots of pain, tingling, numbness, etc. So scary. I decided I was done with trying the pill and since my husband was opposed to using condoms, we tried other things like natural family planning, spermicide, etc. Well, that didn’t work out so well and I ended up getting pregnant with my son in September of 2008. My pregnancy went fairly well. I was on an expensive prescription prenatal vitamin (can’t remember the name) for some reason, but not related to MTHFR as we didn’t realize I had this mutation yet. Anyway, my son was born a week early in mid-May, 2009. I was in labor for hours and hours but could not push him out. I ended up having a c-section and surprisingly, a uterine hemorrhage as well. I lost so much blood, it was unbelievable. They didn’t say much about it in the hospital, just gave me iron pills to help with my anemia and I went on my way…

    After my son was born, I began getting sicker and sicker. Joint pain everyday, extreme fatigue, nerve pain (burning, tingling, shooting pains in my joints and muscles), muscle cramps, brain fog, depression, anxiety, etc. It was completely debilitating. I found it all so overwhelming on top of having a rough marriage to begin with.

    I started going to doctor after doctor to try & figure out what was wrong with me. I’ve had every blood test I could think of (NO MRI or lumbar though) and everyone just said I was fine. The only thing they found was slightly elevated SED rate and CRP. This has been continuous over the years, too. Doctors have basically said it’s CFS and/or Fibromyalgia.

    2011 was a bad year for me. My husband and I had been separated on and off (mostly due to my health but he’s also emotionally abusive) and I have been having an extremely hard time keeping up with my toddler (who happens to have developmental delays). In August, I went to an integrative medical doctor at the Cleveland Clinic near my home. She tested me for things that other doctors didn’t. One of them was for MTHFR. I received this result (lab results get posted on the Cleveland Clinic website):

    “The DNA sample contains one copy of the MTHFR C677T mutation (heterozygous mutation). This is associated with a substitution of alanine by valine at amino acid 223 in the 5,10-methylenetetrahydrofolate reductase enzyme, which results in a thermolabile form of the enzyme and slightly decreased activity levels. It is not associated with increased homocysteine levels. Heterozygosity for the C677T mutation has not been correlated with cardiovascular disease or venous thrombosis.”

    I called my doctor, confused. The nurse just told me to take Metanx and that it’s no big deal, a lot of people have it. Well, I research every lab result I get that’s abnormal, and initially, I didn’t find much of anything. I took my Metanx sporadically for a month, didn’t notice anything, and because it was so expensive, didn’t refill it.

    (I’m almost done, I swear! lol) Fast forward to January this year! I had lots of CFS/Fibro flares. I thought I was going to die again! Really awful pain – like I’d been hit by a truck. Unbelievable nerve pain. Vertigo. EXTREME fatigue. ALL of this on top of the fact that I am going through a divorce (YAY!). I got extremely depressed and started to look into MTHFR more to see if it was related to these symptoms. This time, I actually found some info. I didn’t read too much as I have been so busy, but I started taking my Metanx again on Jan 16th. I’ve improved A LOT in the fatigue/nerve pain area. Is this a coincidence or not? Should I be more concerned with my mutation or is it not that serious?

    I know this has been very long, scattered, etc., and I’ve left out so many important details and symptoms. At 29 years old, I have an extremely poor quality of life. The Metanx has given me some energy back and less pain, but depression, anxiety, brain fog and other things are still plaguing me, obviously. I know my diet is very poor, I’m on lots of medications (antidepressants, supplements and others) and going through an extremely stressful time in my life. I want to know if there’s hope for me and how concerned I need to be about my son (he’s nearly 3 and is like a year behind in his speech). I’m overwhelmed by all of the info out there but also think I’m doomed to a life of misery. BTW – my two brothers have substance abuse problems (one is really bad, on heroin, refuses to get help…) and the other is extremely depressed, no motivation at all. We all have children and I’m concerned. I want to help my family out but I’m not sure if my specific mutation is one to be concerned about.

    Thanks in advance if you read all of this!! I apologize if I made no sense :(

    • Dr Ben February 16, 2012 at 8:52 am # Reply

      Hi Becky –

      I give you Kudos for such effort ;)

      I haven’t read all of it but will when I’ve a moment.

      I see you are heterozygous C677T MTHFR.

      This is not that severe yet it does slow down the effectiveness of your body’s ability to process folate into methylfolate.

      Personally, in your case, I think Metanx is overkill and cause you to have joint pain, irritability, fatigue, headaches, muscle aches. I may be wrong here as each responds differently, but Metanx contains quite a bit of methylfolate and you should not need so much.

      I can help you. Your symptoms are very similar to many of my past and current clients.

      Not to boast – but to give you an idea of what is possible:
      – 9 yr old boy with severe fibromyalgia and stomach pain, couldn’t walk long distances at all, had to lean against a tree for his playdates with friends. Now he is fine enjoying life as he should be.

      Others also are improving a lot.

      I welcome you to my Facebook page – there is quite a bit going on there.

      When you are ready to really make a difference in your life, I recommend a consult given the complexity of your past and present situation. Please call 800-547-9812 or you may begin the process here online.

      You can – and will -get better if you commit yourself to it.

      • Becky February 17, 2012 at 2:01 am # Reply

        Thank you for replying so quickly, Dr. Ben! I really appreciate it.

        Well, my pain went away with the Metanx almost immediately! Although, today is my last dose for the month & I’m back to having some joint & muscle pain again but I am getting sick so it could be related. I’d love to do a consult but would need to wait a bit. Is there anything you’d be able to suggest in the meantime? Do you think I should try something other than Metanx or nothing at all? I’m also taking Vitamin D3, fish oil and a couple of other things. Not much improvement though (my D levels were at 11 a couple of years ago).

        • Dr Ben February 17, 2012 at 7:10 am # Reply

          Becky-

          If you improved with Metanx, you should continue with it or something similar, such as HomocysteX – just a lower amount. Definitely need to get your D3 levels up. Appropriate foods and additional specific supplementation are likely needed.

  9. Jessica Scott March 5, 2012 at 11:01 am # Reply

    In January 2010 I had a healthy baby girl. Then, in December 2010 I had a miscarriage at 7 weeks. The doctor said it was very common to have an early miscarriage so no tests were done. I became pregnant for the third time in may 2011. Everything was well until December 3rd, my son hadn’t moved for a few hours. I went to the emergency room and they could not find a heartbeat. He passed away inside me when I was 31 weeks along. I was induced the next morning and 52 hrs later I had Kingston by v-bac. We had an autopsy done which showed he died because of a blood clot in the placenta. I had blood tests done on and I have mthfr homozygous. The doctor just put me on aspirin for now (80mg a day) and told me to take folic acid and prenatals 6 months prior to getting pregnant again. Is there anything else I should be doing to keep myself and my future pregnancy safe? A special diet or a different blood thinner? I also have frequent chest pains and I’m wondering if the disorder has something to do with it? My doctor said he thinks it’s just stress/anxiety. Thanks for listening and any feedback is appreciated!

  10. Monika April 5, 2012 at 11:25 pm # Reply

    Hi Dr. Ben,
    Thank you for your online advocacy for MTHFR gene mutations. I’m glad I stumbled upon your website!

    I was tested for MTHFR by my OB Carolyn Ianeiri, Doylestown Women’s Health Center, Doylestown, PA, after I had my first pregnancy loss, a missed miscarriage at 11 weeks, normal karyotype male. I am compound heterozygous for C677T and A1298C. My homocysteine level at that time (12/13/2010) was 5.3 umol/L. As a result, my OB put me on 4mg total folic acid and encouraged to keep trying. She mentioned I could go to Abington, PA infertility so I did and Scott and I had a full workup. Only thing they found and fixed was a small bump (septum) on my uterus. Subsequently I terminated a pregnancy at 20 weeks due to multiple congenital anomolies, hydrocephalus, fluid collection in the soft tissues of the neck, contracted upper and lower extremities (no evidence of motion) that was suggestive of a chromosomal abnormality, but karyotype was again, a normal male. I was told this was bad luck and tried again. I am now pregnant and am already seeing the same issues as last pregnancy, but am awaiting SNP Microarray from CVS.

    Now that I have recurrent pregnancy loss, I am going back to my records and pouring through them trying to be my own advocate and wanted to look further into these gene mutations.

    I am very healthy with no major health problems. The only thing of note is that I was diagnosed with heart palpitations (I have a few extra beats every once in a while). I took beta blockers for a while, but stopped when started trying. I’ve had routine EKGs with no issue.

    Thank you in advance for your attention!
    ~Monika, 31, Chalfont, Pennsylvania

  11. Marilyn April 22, 2013 at 12:10 am # Reply

    Hi Dr. Ben,

    I don’t even know where to start. I have had genome testing by 23andMe, and through their excellent community just found out about methylation, and you. The whole topic seems very complicated.

    I don’t know which of my issues may be affected by the mutations I have (quite a few, see below). I’ve been most bothered these past few years by foot tingling (painful), foot and lower leg cramping, balance issues, memory issues (also have APOE ε4 mutation), borderline hypertension, weight issues, headaches, allergies, etc.

    Due to the number of mutations, I need a helping hand with where to start. Thanks in advance!

    Here’s the list (I deleted the normal genes, to make a shorter list):

    METHYLATION 1
    Gene & Variation rsID Risk Alele Your Alleles Results
    ACAT1-02 rs3741049 A AG +/-
    ACE Del16 rs4343 G GG +/+
    AGT M235T/C4072T rs699 G AA -/-

    BHMT-08 rs651852 T CT +/-

    CBS A360A rs1801181 A AA +/+

    COMT rs6269 G AG +/-

    METHYLATION 2

    FOLR2 rs651933 G AG +/-

    FUT2 rs492602 A AG +/-
    FUT2 rs601338 A AG +/-
    FUT2 rs602662 A AA +/+
    GAD1 rs3749034 A AG +/-
    GAD1 rs2241165 C CT +/-

    GAD1 rs12185692 A AC +/-
    GAD1 rs3791878 T GG -/-
    GAD1 rs3828275 T CT +/-
    GAD1 rs10432420 A AG +/-
    GAD1 rs3828275 T CT +/-

    GAD2 rs1805398 T GG

    METHYLATION 3

    MAO A R297R rs6323 T TT +/+

    MTHFR A1298C rs1801131 G GT +/-
    MTHFR A1572G rs17367504 G AG +/-
    MTHFR C677T rs1801133 A AG +/-

    MTRR A66G rs1801394 G GG +/+

    MTRR-11 A664A rs1802059 A AG +/-
    NOS1 rs3782206 T CT +/-
    NOS2 rs2297518 A AG +/-
    NOS2 rs2274894 T GT +/-
    NOS2 rs2248814 A AG +/-
    NOS3 rs1800783 A AT +/-
    NOS3 rs1800779 G AG +/-

    METHYLATION 4

    NOS3 T786C rs2070744 C CT +/-
    SHMT1 C1420T rs1979277 A AG +/-
    SLC19A1 rs1888530 C CT +/-
    SLC19A1 rs3788200 A AA +/+

    TCN2 C766G rs1801198 G CG +/-
    TYMS rs502396 T CT +/-

  12. Ann Byrne September 13, 2013 at 10:03 pm # Reply

    Hi Dr. Ben,

    I had rotator cuff surgery a little over three weeks ago and ended up in the hospital with a Pulmonary Embolism. While in the hospital I had genetic testing and it came back positive for MTHFR Compound Heterozygous. Trying to heal from shoulder surgery and the P.E. I am overwhelmed by this news. Other health problems that I have is Celiac Disease (which isn’t healing) and a nodule on my thyroid. I want to start the Paleo diet, but I can’t have any Vitamin K because of my new blood thinner meds. I also have NO idea what kind of supplements I need or what sort of specialist I should go to.

    Any help would be greatly appreciated!!!!

  13. Gayatri February 24, 2014 at 12:54 am # Reply

    Dear Dr. Ben,

    I have a 4 year old, who is still nonverbal and on the autism spectrum. After running from pillar to post to get to the bottom of his challenges, I learned about genetic mutations and ordered a 23-and-me test on him, and convinced my neurologist to do a spinal tap on him to determine if he had cerebral folate deficiency or not. The results of the spinal tap revealed a methyl folate level of 67 nmols / l, which we were told is “normal”. The results of the 23-and-me tests revealed the following mutations :

    Homozygous :

    CBS A13637G
    FOLR2
    MTHFD1 G1958A
    MTHFR (LOC100506310)
    MTRR A66G
    SOD3

    Heterozygous mutations :

    ACE Del16
    BHMT R239Q
    BHMT-08
    BHMT-02
    CBS C19150T
    CBS C699T
    CLCN6 rs13306560
    CLCN6 rs3737964

    FUT2 rs492602 G
    FUT2 rs601338 A
    FUT2 rs602662 A

    GAD1 rs12185692
    GAD1 rs3791851
    GAD1 rs3791878
    GAD1 rs3828275
    GAD1 rs701492 T
    GAD1 rs769407 C

    MIR4761 (COMT -61 P199P)
    MIR4761 (COMT H62H) rs4633
    MIR4761 (COMT V158M)
    MIR4761 (COMT) rs6269

    MTHFD1 C105T rs1076991
    MTHFD1L rs17349743
    MTHFD1L rs6922269

    MTHFR rs17037390
    MTHFR rs4846049
    MTHFR A1298C
    MTHFR A1572G
    MTHFS rs6495446
    MTRR-11 A664A

    NOS3 rs3918188
    PEMT rs4244593
    PEMT rs4646406
    TCN2 C766G
    VDR Bsm

    I am dazed and overwhelmed. Any advise / help from you on how to help my little boy would be gratefully accepted. Thank you !

    – Gayatri

    • Dr Lynch February 24, 2014 at 9:50 pm # Reply

      Gayatri –

      It is more than just identifying methylfolate levels in the CNS. There also may be folate receptor antibodies on the brain which reduces the methylfolate from binding to the receptor. Your son also has folate receptor snps – which may also reduce the binding of methylfolate.

      I highly recommend a completely dairy free diet – all dairy excluded – and gluten. 100% compliance.

      Antibodies against the folate receptors may be caused from dairy products – and I also believe – and know – that gluten is a big issue.

      Many things cause non-verbal activity –
      – low creatine
      – low B12
      – heavy metals
      – low essential fatty acids
      – low phosphatidylcholine
      – high oxidative stress
      – low biopterin

      Please work with a doctor found on this list

  14. Gayatri February 25, 2014 at 9:03 am # Reply

    Thank you so very much for responding, Dr. Lynch. I was really upset by the fact that he is homozygous for FOLR2. Is it possible for us to consult with you ? Please let me know. I am leaving my email address with my comment.

    • Dr Lynch February 25, 2014 at 8:06 pm # Reply

      Gayatri –

      I no longer do consults – too busy educating doctors at this point. I do have a recording from my last 2 day conference on Methylation and Nutrigenomics at http://www.seekinghealth.net – you may also learn quite a bit from here.

      Keep in mind that just because one has a SNP for a specific gene does not always mean it is a problem. There are also different degrees of severity in a SNP – so do check the rsID for the specific FOLR snp your son has – it may not be serious at all or it may be somewhat.

      Again – CSF levels of methylfolate don’t say much. The binding to receptors and transport needs to happen.

      We do offer a liposomal methylfolate for situations in which one has reduced folate transport and receptors. My theory is if it is liposomal, the delivery of the nutrient will partially make it into the cell on its own – without need for transport or receptor binding.

      I designed a liposomal B12 with L-5-MTHF and also a pure liposomal L-5-MTHF.

      Again – many reasons for speech delay. I encourage you to find a doc from the reference list I sent you above.

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