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.

If you have a comment that is related to your own health or have questions that require an answer, please leave these in the community discussion forums and not in the comments below. Thanks! =)

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