Thanks to my many physiological quirks, I’ve had to build my own health plan. I’ve learned that things that are healthy for others, like a vegetarian diet, are not healthy for me. Over the years, with the help of professionals and friends, I’ve discovered that I have a thyroid problem, various food sensitivities, and some special dietary needs. Just this week, I got another piece to the puzzle, and I am examining it carefully, wondering what changes addressing this new issue might bring.

A few of the vitamins I need to take.
A few of the vitamins I need to take.

My struggle with severe bouts of fatigue, which have been diagnosed as depression in the past, has gone on for almost ten years now. Many of the changes I’ve made, from cutting out sugar and gluten to returning to eating meat, have helped me feel better and have more energy. But the rollercoaster continues. My test results from my annual physical put me in the normal range most of the time, so according to my doctor, I’m perfectly healthy. But I haven’t felt perfectly healthy for ages.

Fortunately, I am blessed with friends who are walking this same road of self-discovery. One of them listened to me talking about my low energy and occasional anxiety and suggested I get a genetic test for MTHFR (which stands for methylenetetrahydrofolate reductase and is not an abbreviation for a nasty swear word).

MTHFR is both a gene and the enzyme it produces. The enzyme is part of the methylation cycle that occurs in every cell in our body and is responsible for cell repair, detoxification, neurotransmitter production, and a healthy immune system. One mutation can reduce enzyme efficiency to 60% of a normal person’s. Two mutations can result in 10 – 20% efficiency.

When I went to see my nutritionist about my latest energy issues, she suggested some testing of various vitamins and minerals. Part of the panel she wanted to run included an MTHFR test, so I signed up to get it done. (It’s just a blood test, and you don’t even have to fast for it.)

The results came back and I definitely have problems. I have a B-2 deficiency, along with low B vitamin results across the board. I’m also low on vitamin C, zinc, copper, magnesium, and a few other things. But the most important result? I tested positive for the gene mutation.

There are two MTHFR gene locations: C677T which is associated with cardiovascular issues, and A1298C which affects mood and behavior more. I was negative for C677T but heterozygous for A1289C (i.e., I have one mutated copy and one regular copy).

The solution is apparently really simple. I need to take methyl-B12 (methylcobalamine) and methyl-folate to make sure my body can absorb these nutrients. Without them, I am more likely to have deficiencies in my B vitamins (just as my test results showed). I’m also taking a B-vitamin complex and some other minerals to help address all my borderline results.

Because I suffered a B-12 deficiency in the 90s, I’ve been taking B-12 ever since. But I didn’t know that there was more than one kind out there so I never paid attention to what I was buying. My latest bottle at least was the cyano-form. I should be angry about how many B-12 pills I’ve taken in the last 20 years and how little I was probably benefiting from them, but mostly I’m just grateful to know what I now know about this.

I’ve started my new supplements and for the first few days, I felt just fine. Not over the moon wonderful, but energetic enough to have a productive and full day of the kind I imagine most adults have. The last two days I’ve been feeling tired again. The nutritionist told me to schedule my check-up with her in six weeks, so I know it will be a while before we can really tell how well I’m responding to the supplements.

In the meantime, I have plenty to think about. When I read the list of major health issues linked to the MTHFR mutation, I wondered how many of my issues are caused by this single mutated gene. How big of a factor is this in my depressive episodes? How much has it enhanced my nervous nature? Is this why sugar gives me so much trouble? Is this the root cause of the fatigue issues I’ve been struggling with for all theses years? Or will there be little to no noticeable improvement in my energy levels despite knowing about this mutation?

I have a new piece to add to my puzzle, but it will be a while before I can tell just how big this piece is.

Do you struggle just to be a healthy “normal” person? What challenges have you faced? What have you learned?

8 thoughts on “MTHFR Mutation: A New Piece In My Health Puzzle”

    1. I’ve struggled, with many of the problems you have listed, for many years since having Lyme Disease. fatigue and cognitive problems are my biggest problem. Lately I can’t smell or taste. So, I also have been working with vitamin and herbal drugs to some benefit, but, fatigue is still a problem. Please post again your response to this new group of therapy, I am keeping my fingers crossed so you get great help with fatigue issues, since no one, including MDs seem to understand it. Keep up your struggle, it is worth it. Enjoyment of life will be your major benefit.

      1. Lyme disease? 🙁 I’m glad you found some things that work for you and I hope you, too, continue to make progress with your health issues. People complain about not having enough time in the day to do everything, but my problem tends to be to not have enough energy. I have to spend lots of hours resting and recharging. Maybe I can’t change that, but I keep trying!

    1. LOL! No telling what the doctor would think of all this. Poking around on line there are definitely different opinions about how important this mutation may or may not be. All I know is that it’s information to help guide my health care and that’s good enough for me.

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