I’m a Mutant: MTHFR Mutations

When I found out I was pregnant with our first daughter almost 6 years ago, my OB suggested that I take folic acid. I did and I slowly started to get sick. And then sicker.

By the time my second daughter was born, my immune system was a mess. I had recurrent sinus or upper respiratory infection. And even though I was accommodating my food sensitivities by eating dairy free, soy free, and gluten free, my gut was a mess. I vacillated between diarrhea and severe constipation. Overall, I felt terrible.

Visit after visit to my Internist ended like this: “You’re CBC (complete blood count) looks good. There’s nothing wrong with you. But yes, you have another sinus infection, so here’s an antibiotic”. Ugh.  In desperation, I began scouring the internet for help. That’s when I came upon functional medicine and I located a provider in Dallas.

This was by far one of the best decisions I’ve made.

I met with Dr. Suzanne Mack and she ran a myriad of labs including a couple genetic tests. It turns out that I’m a mutant. I have a compound heterozygous MTHFR mutation.

Have I lost you yet?  This gets technical for a minute, but I’m going to try to simplify it, so stay with me… MTHFR stands for methylenetetrahydrofolate reductase gene. A healthy, non-mutated MTHFR gene is supposed to produce highly functioning MTHFR enzyme.  This enzyme, among other things, impacts your body’s ability to methylate by converting folic acid (a synthetic, man-made vitamin) into methylfolate (the usable form). Simply, if you have an MTHFR mutation you can’t effectively convert folic acid into the usable form of methylfolate, therefore you can’t methylate well and you will have trouble eliminating toxins from your body (if you are getting folic acid in your diet). And then you’ll usually get very sick.

“The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.” – mthfr.net

The best illustration I can think this of is this: We’re all walking around with a bucket. Some of us have really big buckets and some of us, like me, have really really small buckets.  If you’re not constantly emptying the bucket (detoxing properly), at some point every bucket will overflow. The smaller the bucket, the less toxins it can hold, and the more quickly it overflows.  The bigger the bucket, the more toxins it can hold, but it too will eventually overflow if not emptied regularly.

While an MTHFR mutation isn’t the only type of genetic mutation (there are thousands) and it isn’t the only factor affecting “the size of your bucket” or your body’s ability to detox, it is a significant one and one that can usually be compensated for with basic dietary changes and sometimes supplementation.

So, how do you know if you’re a mutant?

  • I always recommend seeing a functional medicine doctor. (What’s a functional medicine doctor? Find out here.) He/she can run the test and can help design the very best treatment plan based upon your individual needs.
  • If you can’t afford a functional medicine doctor right now but still want to know so you can make some basic and simple changes if necessary, for $150 you can find out relatively quickly through My Home MTHFR Test.
  • For a more comprehensive look at your genetic profile and to explore additional mutations, you can use 23andme ($199 Health and Ancestry Service). But note that you’ll have to import your raw data into a site like Genetic Genie to get results and there’s usually a 6 week + wait time.

And now what do you do if you’re an MTHFR mutant? You can read more about that here.

Are you an info junkie like me and you’re itching for more? I like this in-depth post from Mommypotamus, MTHR Gene Mutations: A Beginners Guide. And I think everything Dr. Ben Lynch posts is comprehensive and well-written, so check out mthfr.net for further reading. 

Photo by Elicia Graves Photography

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