So after a bit of an exploration of my status as a hypothyroid individual, I want to turn the attention back to MTHFR because this is the condition that has prompted me to make most of the lifestyle changes that I’ll be documenting on this blog. I should start off by saying that I have yet to find a doctor to treat me for MTHFR. After my current primary care physician wouldn’t test me for the mutations, I went off on my own and consulted Dr. Ben Lynch’s wonderful resource, MTHFR.Net. After testing positive for compound heterozygous MTHFR, I have only the internet to turn to until I can find a doctor who acknowledges this condition to be problematic. I have one candidate lined up for the end of August, which is the earliest I could get an appointment, so until then I am on my own. I am also looking into a local clinic that specializes in DNA and cellular assessment to get more information on my MTHFR. I will report back as I go with the outcomes of all of my visits to health professionals.


What prompts someone to find out they have a genetic mutation and embark on a complete and total lifestyle overhaul? I wonder as I write these first posts whether I will get readers who think I’m a crazy hypochondriac who is taking things way too far. Not that I’ve ever cared about what people think, but I look forward to meeting others who have encountered this disorder in their own lives and decided to make drastic changes. By now we’ve all heard about Angelina Jolie and her BRCA mutation. I have not been tested for this gene but both my mother and maternal grandmother have been affected by breast cancer in their lives. And MTHFR is possibly related to increased cancer risk if not properly treated.

But cancer isn’t the only thing to worry about. MTHFR, if not addressed, can lead to many serious health problems. And as I have mentioned before, I would like to become pregnant in the near future. The number of potential pregnancy complications for women with MTHFR is staggering. I hope to prevent as many of these as possible by being properly treated and monitored and also to prevent any birth defects or adverse conditions in any future children I have.

There is also increasing evidence that MTHFR mutations can play a direct role in the development of autism in young children. Interestingly enough, I was already prepared to deal with my MTHFR mutations before I even found out I had them. Autism spectrum disorders have been on my radar for awhile. I already had my big toe in the pool of organic and holistic living from six months before we even started trying for a baby. I was vigilant against genetically modified organisms and chemical exposure. I refused to eat meat that had been treated with hormones or antibiotics or fish high in mercury. I shunned fluoride, antibiotics, fabric softener, sugar, processed food, high fructose corn syrup and excessive cell phone use. This is all before I even knew that I was one of the people at risk of having an autistic child. All I knew of were the terrifying statistics – that one in 88 children are affected by Autism Spectrum Disorders.

So for me, there is no halfway or playing games with this genetic affliction. Some people may choose a more moderate approach. I don’t judge anyone or tell anyone what to do with their lives. The only person I can make decisions for is myself. And for me, a complete change in lifestyle is now required. I can’t tell you how many people, in two short weeks since I’ve known that I’m compound heterozygous, have waved their hands at me in dismissal and told me not to worry about it. I guess I should be comforted by the fact that possibly 30-50 per cent of the population has at least a heterozygous mutation of one of the genes in question? That, along with our increasingly toxic environment, may explain the increasing number of autism cases. But MTHFR being widespread does not give me pause. I think there is a lot to be said for a healthy lifestyle. It’s a choice I’ve made so that I can feel at peace with whatever happens in the future with my health or the health of my family.

These are, of course, just my first steps at this stage. I am completely new to all of this, including clean living. If you caught me a couple of months ago you would have found me eating fried chicken and biscuits chased with a couple of beers. Not every day, mind you, but often enough to disqualify me from being able to speak at all about being “health-conscious.” And this is about the time I should add the requisite disclaimers that I am not a doctor or any kind of licensed medical scholar or practitioner. Nothing that I write about on this site should be taken as advice or directive – it is simply my personal diary about what I’m doing to live a healthier life because of my MTHFR and hypothyroidism. And believe me, if I can do it, anyone can. In the next post, I’ll tell you a little bit about what I’m doing so far and my goals for the future.

18 thoughts on “The MTHFR Connection

  1. Pingback: Have MTHFR? How To Avoid Folic Acid In Food – Irme's

  2. Pamela Sage

    No, you are not a hypochondriac. Your doctors need to bone up on their biochemistry. Fortunately, I have a psychiatrist and internist that understand. In fact, my psychiatrist, who works primarily with pediatric cases is considering making genetic testing mandatory for his patients, because MFTHR mutations and other mutations are the chief cause of underproduction of neurotransmitters and he wants to attack the cause not just the symptoms. He’s an osteopath, so more open to “whole person” approaches than an MD. I am compound heterozygous. I was born with Goldenhar Syndrome, received a late diagnosis of autism spectrum disorder, have major depression, PCOS/metabolic syndrome, unilateral tinnitus, and chronic sinus problems. Many if not all of these can be caused or worsened by MFTHR mutations. I regret that it took nearly half a century of struggle and deterioration to discover that I had the MFTHR mutations. I might have done much better had I known while young that I needed methylfolate supplementation.


  3. Ashley Salzman

    I just found out that I have compound heterozygous. I don’t know much about it but I’m glad to find a blog that’ll help guide me!


  4. Brianna

    I have homo-CT gene mutation. I wanted to encourage those that have the MTHFR defect and are worried about miscarriages. YES, it is common but I had none. I carried 5 children and have the defect. SO, not everyone has miscarriages. My Aunts and my Mother and Sister have lost babies from early miscarriages to late term still borns, though and we are assuming by their symptoms that they have the same defect. Take care of yourself. EAT RIGHT and EXERCISE. I believe because I focused on good nutrition is why I carried all the babies to term. The only side effect I did have despite an active and healthy lifestyle was my unexplained weight gain. I gained an extreme amount of weight while pregnant. Come to find out it was do to taking 800 mg of Folic Acid a day. I hope this helps ease some minds.


  5. Kelli

    I just came across your article. My sister lost a baby when 5 months pregnant and later found out she has MTHFR. I got tested and found out I have it too 🙁 I plan on trying to get pregnant the end of this year and am terrified. I don’t know where to begin but all I pray and hope for is a healthy baby!


  6. Rebecca

    Hi, just read your first post and I’m so grateful for your blog. I was told today I am compound heterozygous as well and have been upset and crying about the potential complications of having a baby, and then I’ve also felt very grateful for the opportunity to learn about it now so I can take preventative action starting today. I am seeing an integrative doctor who has started me on supplements and I’m sure is very willing to go on this journey with me even though this is very new to her it seemed. Please keep sharing and I hope to stay on touch. This will absolutely change my lifestyle choices in the exact ways you have mentioned for yourself. Talk to you soon.


  7. Meredith

    Just stumbled across your blog looking for a practitioner who could treat me, I am compound heterozygous MTHFR. I am 44 and just found out a few years back through my gyn. I have a host of illness’ Chronic fatigue being the worst. I have two daughters Maya 11 who has tourette’s syndrome and Leah 9 who has IBS and juvenile psoriatic arthritis. I haven’t had them tested and wonder if it is because of my own mutation that they have these conditions. I have not taken supplements other than Deplin for a while. I stopped that and may order some over the counter supplements but need advice.


    1. Andrea Post author

      Hi Meredith – thanks for your comments! I’m glad you are starting to figure things out – I know it’s a long road but I’m glad that you are staying positive and hopeful. You may find a practitioner list here

      Good luck!


  8. Shannon

    Hi Andrea! I’m always on the hunt for articles/websites/blogs related to compound heterozygous MTHFR and was glad I stumbled upon yours today. I too have compound heterozygous MTHFR and hypothyroidism; both of which were diagnosed (thankfully) before attempting to have children. I am happy to report that I have one very happy, healthy (rambunctious) toddler and am currently pregnant with our second child. Everything seems to be going well with this one, too! I started taking Folbic (or foltex) daily when I was first diagnosed and have continued to take it and levothyroxine for the last 5 years. I’ve been fortunate to not have had any problems, so far, and believe it is due to early diagnosis, knowledge and understanding of the condition. Good luck and I look forward to following your blog!


    1. Andrea Post author

      Hi Shannon – so great to have you following along! I’m thrilled to hear that you’ve had (are having) two happy pregnancies and a healthy toddler – that’s so awesome. I totally agree with you that knowledge is power and I really hope to share and empower people with this website. Thanks for the inspiration!


  9. Lauren

    Hi Andrea, I’m so glad I came about your blog. I’m about to be 22 years old and was diagnosed with MTHFR C677T, and my 17 year old brother has it as well. Apparently both my parents have it, and would of not found out if my dad had not fallen ill and had been tested for the gene mutation(came back positive). As doing research when I first found out about the gene mutation, because when tested my doctor was not aware of the condition and was no help; that some of the medical issues I’ve had growing up completely made sense!! At the age of 12 I started to get horrible migraines and then for awhile they stopped and they began again when I turned 17 years old. Around the time I was test for the mutation, I was put on a beta blocker that has helped tremendously with my migraines, even though sometimes there are days the meds will not work and I still get one here and there. Not sure if nausea is a symptom but there are days I will get nauseous for no reason, especially when I am at work. Any advice would be great, I do not have health insurance so I have no been able to see a specialist since I’ve been tested. My dad’s doctor told him to put me on folic acid, but the one time I took it I didn’t feel very well. Another worry is, I had found a lump in my right breast, which is a huge concern because I have read that breast cancer has been linked to MTHFR… only to find I may too young to have breast cancer? I feel like there may be a million things I’m doing wrong!


    1. Andrea Post author

      Hi Lauren – I’m glad you found the blog too! The good news is that you’ve caught this young…Let me take your concerns one by one for ease of reference:

      1. I wonder if your symptoms of migraines and nausea would be helped by getting your methylation going? I recommend watching this video as a starting point. Dr. Lynch will tell you what vitamin supplements to take and how to start taking them.

      2. I am not surprised you didn’t feel well on folic acid. People with MTHFR should not take any folic acid and you should also eliminate fortified foods from your diet (see my post on folic acid fortification). You want to be on all the methylated B vitamins as per Dr. Lynch’s protocol in the video.

      3. I would definitely have that lump checked out. At the very least you could have fibrocystic breast disease (which I have the beginnings of), a condition that can lead to cancer. If you don’t have insurance, what about the affordable women’s services of a clinic like Planned Parenthood? Try running a search for “gynecological services for women without insurance” plus your local area (I don’t know what city you are in) and see what clinics offer reduced rates for young women without insurance. Many universities and clinics do have affordable services. I am a firm believer that the health decisions you make when you are young have the most impact on your life, so please don’t ignore signs and symptoms that are troubling to you.

      I’ve written many posts so far on living a clean lifestyle and improving the environmental factors that affect our health. Please do have a look through and feel free to comment again with any specific questions. I’ll try to help if I can 🙂

      Good luck and all the best!


  10. Angela

    Thanks so much for this website. I just found out at the age of 72 that I have the MTHFR C677T;
    double mutations. My doctors kept trying to put me on statins again and I refused. I finally requested a full blood test and that’ s when I found out about MTHFR.
    He did tell me I should take 1mg of folic acid, however, never told me what kind.
    Please keep updating, I’m sure all of us with this condition really appreciates your efforts.
    Take Care, Angela


    1. Andrea Post author

      Hi Angela – Sorry to hear that you also have MTHFR but it’s great to have the knowledge that you do. You want to be taking methylfolate, not folic acid. I’ll be covering that in my next blog post. Thanks so much for your support and wishing you all the best, Andrea


  11. Pat

    Hi Andrea. Thanks for your website. I just found out today that I am heterozygous for C677T and A1298C. I am considerably older than you (56), and wanted to let you know that healthy pregnancies and babies are possible with this combination. I have 2 healthy, now adult, sons. I also had 2 miscarriages between the healthy pregnancies. Of course no one knew anything about MTHFR back then. I ate wheat and drank milk during my first pregnancy, and that child has had food allergies since the beginning, and possibly IBS now. I found out I had food sensitivities a few years after he was born and stopped all dairy (okay, a little dairy a few times a year.) I ate wheat more sparingly in 1989-1990 with the second child, and no dairy. This child has no food issues. I am now off all wheat because it is obvious that it gives me intestinal issues. (Maybe the added folic acid? It is not clear if I have Celiac, though I have one of the genes for it; but many people have that gene and no problems with wheat.) I really cleaned up my act, much as you are doing, when in my mid-20’s, I developed hypotension. I have developed adrenal issues in the last few years, but other than that, pretty healthy. I never smoked, but drank some till my mid-20’s. Just to let you know, you are on the right track with all that you are doing to improve your environment and take care of your body. Although, I should point out that any change, even in diet, can feel like a loss, so let yourself grieve those changes if you feel sad.(And yes, the alternatives for wheat and dairy are amazing now, compared to how dismal they used to be. There has never been a better time to be wheat or dairy free!) Then, pay attention to what can be done to bypass the methylation issues you may have, but be sure to enjoy your life. It is a lot to wrap your head around, but try not to let this MTHFR mutation weigh too heavily on you. Best of luck!


    1. Andrea Post author

      Hi Pat – thanks so much for sharing your story here and for the words of encouragement! I think I’ve definitely felt more positive about finding out about all of this than I have negative – after all, we can do something about it! You’re right about allowing oneself to grieve for the loss of certain foods. Luckily I haven’t had a craving for southern fried chicken and biscuits yet…I’ll probably have a little breakdown when that moment comes 😉

      Have you tried acupuncture for your adrenal issues? I have also had to deal with these because of my hypothyroidism and I find that treatment works wonders if you find a good practitioner…I swear by it! Good luck to you as well =)


    2. Meredith

      I have the same combination as you. I have had a host of problems since I was about 10 years old. To include GERD, IBS, Bipolar, chronic sinusitis, CFS, sleep disorder, coinfections, MRSA and now joint pain. I take provigil to stay awake and prozac for many years. I just finally ordered some supplements suggested for Mthfr. I am hoping this helps me. My family who I advised be tested thinks I am nuts. My father who has had multiple strokes and severed depression doesn’t want to hear of it either. I need a good link to send relatives to simply explain this problem. If all of my problems can be linked to this mutation that would relieve me but also make me feel like so many wasted years where I could have been a better friend, wife, mother and professional. My faith has kept me optimistic and going despite feeling like a truck ran over me.


      1. Pat Zeller

        Meredith, my family doesn’t want to get tested, either! Even though when you read a list of what MTHFR can cause, it reads like my extended family’s health history. Though I don’t actually know which mutation came from which side of the family, I pretty much do know because of the varied health histories. Some people just don’t want to know. Ignorance is bliss, for them, I guess . . .? I say “Knowledge is Power!”

        I had the beginnings of joint pain a few years back and started taking Zyflamend (by New Chapter — hope it is okay to name brands. I have nothing to do with that, or any supplement company) It really helps. Also, eating too much sugar will start the joint pain up for me, (but hey, everyone needs a treat now and again!) so I have really cleaned up my act as far as food goes. I do have some anxiety. I attribute that to the abuse I suffered as a kid, but who knows? My extended family situation is currently stressful, and that must be playing into the anxiety picture, too. Prior to my going entirely wheat free (8 years ago) I had intestinal issues that would have been defined as IBS. So maybe treating your body to the healthy food it deserves will help with some of your issues, too.

        The folate and methylcobalamin vitamins help me get a deeper, longer sleep. I take a lot of the vitamins recommended by Dr. Ben Lynch. But 2 other things also help my sleep issues: Eating a snack with a bit of protein and whole grain before going to bed (I use a gf whole grain cereal w/5 g. fiber per serving, and a T. of roasted ground flax seeds on it–and a little banana, with almond milk), and believe it or not, lowering the lights in the house to about 1 60 watt bulb in the room I am in. Something about melatonin production. I know, it sounds crazy, but it really works for me. Luckily, my immediate family is supportive, though I do sometimes give them something to chuckle about. I will have to try acupuncture for the adrenals!

        Good to see you are a person of faith. If anything, my faith has deepened because of my health problems. And, yeah, I look back with some sadness and frustration at things that could have been better if not for these issues. But I have hope for today and the future, and I try to lean toward that.

        I wish you all the best on your journey toward good health. So glad Andrea came along and started this forum so we can share our travails and successes! Thanks, Andrea!


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