Tag Archives: MTHFR

MTHFR!!! (No, I’m not cursing)

Several weeks ago, I noticed my 7-year old acting a little out of character. Forgetting things easily, strange sentences coming out of her mouth, exhausted. Most of it, I put down to school – at this point, she’s trudged through almost all of 1st grade and is tackling schedules and workloads that rival a 12-yr old just a decade ago. When I asked her how a test was one day, she told me it was terrible “because the windows of my brain were open and I couldn’t remember anything.” It was the oddest thing. There were enough weird things going on for a few weeks that my husband and I began talking about it, and on a whim, I emailed her teacher to see if she’d noticed anything. She responded with gratitude that I had contacted her because she’d become quite worried about my girl, that my daughter was extremely low on motivation and seemed to have “checked out” of school.

Sleep was the first item on our agenda. Making sure she was well rested. A few days later, as Spring Break began, I took her to the doc because my next line of questioning would be to check if there was any nutritional deficiency. After all, fruits were relegated to the horror house several years ago and it’s only lately that vegetables have reappeared on her horizon. There, her pediatrician asked me if I was interesting in getting some genetic testing done, specifically, to check the MTHFR gene.  What? As I learned, the MTHFR gene is responsible for the absorption of folic acid in the body and not only is this critical to just about everything, any gene mutation can cause the absorption of regular folic acid to be a very bad idea!  Currently, over 40 point mutations of this gene have been identified. Of these mutations, C677T and A1298C seem to have the most clinical significance, and a defect in these genes can lead to abnormal hormonal metabolism, higher rates of breast cancer, prostate cancer, heart disease, dementia, migranes, miscarriages, difficulty getting pregnant, and abnormal production of the dopamine neurotransmitter. It can also increase the risk of developing ADD/ADHD.

Guess what? My girl has one mutation of C677T. It’s not a difficult or hard-pressing reveal. The treatment is lifelong but simple. It’s also quite common. Up to 60% of the general population has some form of mutation.  She now cannot take any unnatural form of folic acid and must supplement with the correct form of folate. Methylfolate to be precise, and needs to avoid any artificial folic acid. That could bring me onto another tangent of all the crap that’s added into our foods these days, but specifically, she now must avoid anything “fortified” (e.g. pasta, breads, most cereals, etc) as it will do the opposite of what you’d think it would do. I find it stunning how something so simple can be so wide-reaching, and it really does have me wondering if this is the cause of her mental malaise. This gene discovery is recent in scientific circles (within the past decade) but we are learning more and more how vital it is.

I’m actually dying to get this genetic testing done myself. My daughter can’t have the gene mutation without it coming from either/or my husband and I. So one of us has it. So for now, new vitamins are on the way and hopefully my girl will get back to being herself.

Extra info can be found here: