MTHFR: it’s a mother…

In the spring of the year I turned 44, I was sitting in the waiting room of my doctor’s office for my annual physical, filling out an updated medical history. I hit this question:

Method of birth control: ___________________

I could not think of the word for that surgery your husband has that makes it so you don’t have any more babies. Wracked my brain. Nothing. Filled out the rest of the form and came back to that blank. Nothing.

Fifteen minutes later, sitting on the exam table in my paper gown, I blurted “vasectomy!” to the empty room.

This had become an increasing source of frustration for me. For years I’d been having less and less energy, more and more fatigue; I put it down to working fulltime while parenting a young child. But then came brain fog, depressed mood, and lack of concentration. My edge was long gone, and now it seemed even words were deserting me, when they had always been reliable friends. I was so tired on weeknights it was all I could do to make dinner before I washed up on the couch. On weekends, I did not have enough energy to clean and grocery shop on the same day.

All of this spilled out during my conversation with my primary care doctor, along with some tears. “And don’t tell me to exercise, eat right and take vitamins. I’ve been doing that shit for years. It’s not helping. This is not normal. I’m 44, not 84.”

After a careful look at my medical history, where a history of multiple miscarriages caught her eye, she asked if anyone had tested me for a genetic mutation called MTHFR. Not only had I never been tested, I had never heard of it.

The doctor explained it was a genetic anomaly that caused an impaired ability to process folate, a B vitamin, and some amino acids. Taking folic acid (the synthetic form of folate) was not helpful for people with this mutation, because they were not able to process, or ‘methylate’ it. Folate impacts energy, mood and cognition, and the MTHFR mutation could also be a precursor to the heart disease, blood clots and autoimmune disorders that were rampant in my family tree. I had the test.

When the results came back, I learned I was homozygous for the MTHFR mutation – meaning I had two faulty copies of the gene, one from each parent. The treatment was simple: daily doses of prescription L-methylfolate, the only kind of folate I could absorb.

Change did not happen overnight; I did not wake up the morning after my first dose feeling like a new woman. But change was steady, and by about the six month mark, things were very different. My words came back, and with them, my ability to concentrate. Little by little, I could do more in the evenings and on weekends. The amino acids I had been taking now worked much better. I was a more patient mom – my fuse was longer, I had more bandwidth.

As I researched MTHFR I was dismayed to find that most of the information available about it on the web is put out there by naturopaths, “functional medicine” doctors, or by people who are not health professionals at all. I’m not mad at naturopaths; I like to address health issues naturally whenever possible. But I like to see a research base, too; I want the science – and that’s what I wasn’t seeing. Much of the information I could find on MTHFR included recommendations without science to back them up. In my mind, anytime the words “coffee enema” appear, it’s a red flag that whatever’s going on here has left science far behind.

I found this incredibly frustrating; when much of the information out there is questionable, it has the effect of de-legitimizing a very real condition. A few medical skeptic websites are even ‘debunking’ the MTHFR mutation as pseudoscience, similar to the way fibromyalgia was treated years ago. (I’m not even sure how that works – it seems to me a mutated gene is pretty black and white.)

My primary care doctor (who is an MD, for whatever that’s worth) seemed to intuitively understand that MTHFR could have a wide range of symptoms and consequences – but most other doctors I’ve tried to talk to about it, do not. If they’ve even heard of it, I’ve been met with surprise and sometimes skepticism when I say I had symptoms, and that those symptoms abated once I began treatment. And I am surprised in turn, because that just seems like common sense: if I’ve been missing a nutrient my entire life, my body wouldn’t function optimally without it. And if that nutrient is replaced, I will then function better. I guess ‘common sense’ is an elective in med school.

A relatively simple explanation of MTHFR and how it’s treated, created by credentialed health providers, can be found at Austin Family Medicine.

One unexpected side-effect of learning all of this is a newfound appreciation and compassion for my body. She’s achieved some mighty things – reaching my fourth decade in relative good health, and growing and delivering a fine and healthy baby chief among them – all with one hand tied behind her back, nutritionally speaking. Who knows what’s in store, now that she has what she needs.


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