I’ve always been a little different. Born with congenital hypothyroidism, I was burdened with the daily dose of necessary thyroid medication from only a few weeks of age. Affectionately dubbed my “smart pill” by family members, it would be something I would have to remember for the rest of my life. As long as I took that pill and had regular blood tests, they told me, my life would be “normal.” So off I went, taking my Synthroid and having my annual blood tests, never questioning anything or really thinking twice about my condition.

running in the woods

So what does this have to do with MTHFR? Well, in my case, knowledge about the way that my thyroid problem could impact my health actually led to my discovery that I have MTHFR gene mutations. It all began at the start of my pregnancy journey, which I am still on with my husband and partner of almost nine years. We decided to start trying for our first child in 2012, excited and, like most couples, thinking that things would happen right away. They didn’t. We only tried for a few months before putting things on hold due to some changes in my husband’s employment. In the meantime I had noticed that my menstrual cycles were a little on the short side of normal in the luteal phase. Cue lots of internet “research” on the controversy over luteal phase deficiency and the first stages of my working myself into a complete panic that something was wrong with me. I began to take B6 supplements and acupuncture. It never occurred to me that my thyroid might be causing problems.

When I went to the doctor at the end of the year to get a refill on my thyroid medication, I asked the doctor to check my Free T3 and Free T4 levels. I’d just discovered Janie Bowthorpe’s excellent Stop The Thyroid Madness (STTM) website and also the work of Mary Shomon, both working tirelessly to educate the masses about the issues facing thyroid patients around the world. I knew that thyroid would impact pregnancy, but I didn’t realize the importance of your levels being optimized prior to becoming pregnant. We were living in Norway at the time and my doctor said they didn’t normally test for Free T3 but she agreed to do it when I pushed. My TSH was already a bit high, with high Free T4 and when the test came back it showed that my body was a poor converter of T4 into T3.

While this is common among thyroid patients, my anxiety went into overdrive. How long had I been this way? What irreversible damage had been done to my health not knowing about it? Why was this happening? What could I do? I quickly discovered that a public health system general practitioner was not the person to see for my thyroid problems and sought out a specialist. He was actually a private oncologist, which, he assured me, meant that he had to know how all of the body’s systems work. A thousand dollars later, testing me for everything under the sun, I learned very simply that I needed T3 medication in addition to the T4 medication I was already taking. We were already poised to move back to the United States, so I took a little synthetic T3 in the meantime and awaited the next doctor in our new city.

In the midst of all of this, I’d been communicating with others online in thyroid and parenting groups. Here people often post their lab test results for others to interpret, a sort of virtual second opinion on what their doctors are telling them. One gracious woman was kind enough to take a look at all of my lab results and pointed out that my folate levels were high and suggested that I get tested for something called MTHFR. At my first appointment with my new doctor, I mentioned this to her and she gave me a funny look, told me “that’s a deficiency” and dismissed my query quickly. I debated a bit about spending $195 to test myself for MTHFR but, as my father always says, “trust but verify.” Why should I put all my faith in this doctor who I’ve only seen once? The dangers of not knowing that I have mutated genes seemed to outweigh those of knowing, so I completed the test and waited.

As my husband and I waited to exit our plane, ready for a weekend of fun with close friends on a trip we’d been planning for months, I noticed an email with my lab results had come in on my phone. Never one to be able to resist information temptation, I quickly opened it to find the news: I am compound heterozygous, meaning the lab found one copy of the MTHFR C677T mutation and one copy of the A1298C mutation. My mind raced as I quickly did some initial reading in the taxi…this was going to require something drastic. I reviewed some of the increased health risks in people who have these mutations and gave some thought to the various health problems faced by many of the relatives in my family. That trip became my last hurrah in terms of food and drink.

I am just beginning to learn about MTHFR. So if you aren’t already familiar with it, I don’t think I’m the best person to explain it to you. Not when so many others have done the job so much better. The two sentence summary, as I understand it, is that my body doesn’t detoxify as effectively as that of a person who does not have MTHFR mutations. My body also can’t break down some of the important B vitamins that we ingest and my production of glutathione is inhibited, which can lead to very serious health problems. For a more detailed explanation than that, I recommend beginning with Dr. Ben Lynch’s website on MTHFR, or at least reading this post on the STTM website, which explains the MTHFR genetic defect and how it can affect you. I already have high homocysteine levels at just 33, which could lead to an increased risk of stroke, heart disease, Alzheimer’s disease and a host of other nasties if I don’t nip this in the bud now. Welcome to my world.

I have started this blog to chronicle my journey to health after discovering that I have MTHFR gene mutations. Writing has always helped me to process information and share knowledge with others, so when faced with a huge health challenge, my first thought was to document it. Whether you also have one or more mutations, or if you are just interested in healthy living, I think you will find something beneficial on this website. Please be sure to check out my About page and some of the other posts to learn more about who I am (and who I’m not). And please share your own thoughts and experiences in the comments. I look forward to meeting others who care about optimal health.

Disclosure: I am an affiliate of Seeking Health and will receive a small commission from the proceeds of any sale made via the link for MTHFR testing in this post. Be assured that any income goes to maintaining the free information I provide on this website.

14 thoughts on “This Is the Way Your Life Changes

  1. Lauren

    Hi Andrea!
    My name is Lauren, I’m currently a senior in high school starting to think about heading off to college! I found out that I had the MTHFR mutation I think around 5th grade (I don’t remember what variation of the mutation it was, my apologies). Basically how my mom explained it to me was that my body couldn’t possess things like metals, red food dye, and I would struggle to get pregnant. As any other 12 year old would do, I filed it away in my brain and forgot that it existed. Recently I have begun to look more into the mutation due to my periods becoming irregular and extremely painful. I have been all over your blog and want to thank you for putting out so much information into the world in a language that is understandable for a teenage girl. Realizing that the mutation may play a role in these recent changes gives me hope that there is a solution, and if not at least there is an explanation for the pain. Since beginning to research I also understand that my high levels of anxiety and depression my also be effected by the mutation. It was oddly comforting to learn that there may be a reason that I have these thoughts in my head instead of being looked at as “just another depressed teen”. I have an appointment with my gynecologist to meet and discuss to see if these truly are related and I hope to find some concrete solutions or facts.


    1. Andrea Post author

      Thanks for your note, Lauren – so glad that you have found this information useful! Good luck with your doctor and keep us posted on what you learn


  2. Misty

    I just found your blog. I was diagnosed in 2012 with a1298c while pregnant with my second son, and my older son was diagnosed with the compound heterozygous form, like you. When I found out about MTHFR, I seemed like literally the only person in my social sphere who knew about it, was researching Dr. Lynch’s site, or anything else about it. I started talking about it a lot and sharing info on my facebook page to spread awareness, and began researching supplements. It’s a journey I’m still on.

    Now I’m finding more people who know about it, seeing articles pop up from others on facebook, and generally seeing awareness starting to grow. I’m sure a part of that is your site here. I didn’t feel compelled to start a blog, I don’t know why, but I’m glad you did. I can tell your site would have been very useful to me then, I’m glad that it’s here for others starting on their journey now.

    And, yes, the explanation of methylation you link to in your “About” page is definitely one of the best on the internet. Your site is the first I’ve seen that one, and I heartily agree.

    Thank you for sharing your journey, making this blog, and spreading awareness. Thank you.


  3. Shannon

    Hi Andrea,
    I just came across your site after doing some internet research on MTHFR. I recently discovered that I have 1 copy of the C677T allele, and am heterozygous. I have PCOS, a mood disorder, and a recent diagnosis of mild hypothyroidism along with longstanding chronic pain issues. I am sincerely hoping that with education and proper supplementation I can recover my health. It is almost surreal to believe that after so many years of illness, this genetic mutation could well be the culprit. Thank-you for providing this website. I am glad you found out about the MTHFR mutation.


  4. Margaret

    Hi Andrea,

    I just found out I’m compound heterozygous for MTHFR last month after taking folic acid and an extreme overload of lack of sleep and stress gave me anemia.

    I’d already known somewhere deep down that I didn’t metabolize folate the same way most others do; I’d figured this out in my 30’s. What I didn’t know is how serious it can be (and that folic acid is virtual poison for us) and about the A gene’s impact on me.

    Like everyone, I have my own history and journey with being a ‘variant’ and am increasingly optimistic that a livable way can be forged with some determination and discipline. But I want to add how important your blog has been to me already in the six weeks since I found out. It’s been a tremendous educational and spiritual resource for me and I just want to thank you. I’m calmer now but it’s been at times terrifying and lonely.

    Thanks again for your efforts.


      1. Margaret

        I don’t know where to put this question, Andrea, so I’ll try here. (The uncertainty surrounding whole aspects of how to live with compound heterzygous and MTHFR generally have been the absolute hardest part for me so far.)

        You write about fluoride on the blog but mostly about drinking water. My burning question is how harmful is it in our bath water? I am a hardcore bath person (another major challenge as an avid swimmer is how to find salt water pools…) I take baths most days a week because I have Raynaud’s syndrome (which has some but not total connection to MTHFR in my life). I’m middle aged and don’t need to wash my hair every day, so I pin it up and wash while soaking my constantly cold feet. In general it is a major soother and coping mechanism for me and life quality would really deteriorate without it for me.

        Ben Lynch doesn’t really explain much about fluoride in bathwater and none of the famous experts can be reached easily anymore.

        Do you know if he thinks it’s dangerous to soak in? Does it vaporize easily like chlorine? I don’t think filtering chlorine out of bathwater is that hard for charcoal filters if I really want to when I move to a house soon (for now I’m drinking bottled spring water). But this issue of how will I maintain my bath routine which helps my Raynaud’s and overall spirit tremendously seems to have no answer in sight.

        Thanks for any information!


        1. Andrea Post author

          I haven’t seen any studies verifying that fluoride can be easily absorbed through the skin and I can’t speak for Dr. Lynch. Chlorine is easy to filter out using inexpensive filters. Whole house fluoride filters are very expensive, however, so I don’t know if I would worry about this too much…


  5. Amy K.

    Hi Andrea,

    I found your site last week when my new integrative physician strongly advised me to be tested for MTHFR. Despite being pretty well-read about hypothyroidism and PCOS issues, this topic wasn’t even on my radar. Between my own medical and my family medical history, all signs pointed.

    Yesterday, I got the results that I am heterozygous A1298C (and we will be doing additional testing after this). I’m JUST beginning to read up on this whole thing, yet while I’m coming up with more and more questions, I’m also stunned at how all the different medical issues I have faced–as well as the ones in my family–seem to be very obviously connected.

    Thanks for sharing your journey with us. I did want to encourage you regarding the pregnancies: I have PCOS, a serious endocrine issue, as well as hypothyroidism and apparently an MTHFR mutation… but I have given birth to two very healthy, happy daughters. Please have hope!! If I may risk giving unsolicited advice (and tell me to shut up if you need to), the reason I was able to get pregnant was by the grace of God in leading me to a book called “Taking Charge of Your Fertility”. Blew. My. Mind. I’m an educated woman but learned a MOUNTAIN about my own body through this book. Because of things I knew to look for after reading it and using the Ovusoft software developed by this woman, I was able to address obstacles I wouldn’t have known about and actually recognize when I was ovulating one day, which happened to be cycle day 59 (yep, I was that irregular). I strongly believe every woman regardless of life stage needs to have this book. It’s a life-changer. I hope it may be of some help.

    Best wishes to you!


    1. Andrea Post author

      Amy, thank you so much for your support and sharing your experience! The book you recommend is actually on my “to read” list as a few people have mentioned it to me now. I just finished ‘The Infertility Cure’ by Randine Lewis and Taking Charge of Your Fertility is next for me. I am encouraged to hear that you’ve had two successful pregnancies. Wishing you luck in your own health investigations and all the best! =)


  6. Lynn_M

    Your RE’s comment has me flabbergasted. If you read many of the comments on Dr. Ben’s site, many women report that correctly treating their MTHFR has made a huge difference in their ability to have a successful pregnancy.

    Since 23andMe’s genome testing is now so affordable at $99, and 20% off for combined orders, many people are finding that methylation gene polymorphisms other than MTHFR are playing a large role in their lack of health. It is almost too simplistic to just treat MTHFR in isolation. I think any doctor that ignores genetics is like someone trying to hold back a bursting dam.


    1. Andrea Post author

      I definitely think for me that it is impacting my luteal phase and progesterone. I just went there for testing, to confirm my suspicions about my progesterone deficiency. We’ll see what the labs say…I have started taking the active form of B6 and am hoping that will help. I would think they would want to know about a woman’s MTHFR status because of the potential clotting issues!


  7. Lynn_M

    Andrea, welcome to the MTHFR world. I have homo A1298C, plus I’m homo for 3 and hetero for 7 other MTHFR SNPs. I also was born with congenital hypothyroidism, but mine manifested as a thyroglossal duct cyst, a congenital misdevelopment of the thyroid gland. My thyroglossal duct cyst is a neural tube defect and I am just now finding out it could be linked to my MTHFR and some other polymorphisms that affect B12 and folate. Your congenital hypothyroidism might also be linked to methylation SNPs.

    There’s a lot more information about MTHFR coming out even in just the last year. Dr. Ben Lynch’s MTHFR.net site is less than 2 years old. MTHFRdiscussions yahoo group started in 3/12. http://www.MTHFRsupport.com and http://www.MTHFRease.com are pretty new also. I think your blog here is different in your emphasis on healthy living rather than the science aspects of MTHFR.


    1. Andrea Post author

      Hi Lynn! Thanks so much for being my first comment and sharing your story here =) I’m heading over to join those groups now…

      I’m thrilled to contribute something a little different to the mix. Looking forward to learning with everyone else and sharing knowledge…I am discovering new things every day. I thought MTHFR knowledge had been around for some time so I am really floored that Dr. Lynch’s website and the groups are so new. The reason I thought that is because when I visited a reproductive endocrinologist a couple of weeks ago, she waved her hand and said they don’t test for MTHFR any more!

      Hope to talk with you again soon…



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