© 2016 by Linda Poitevin. Created with Wix.com

A MTHFR of a Mutation

August 1, 2017

Full confession: it’s been a while since you last heard from me because, honestly? I’ve been  

avoiding writing this post for a couple of reasons. First, because I’ve been too angry to trust myself not to go on a rant; and second, because I’ve been overwhelmed by sadness and helplessness...but not on behalf of myself or my daughter.


Let me explain. 


Remember how we’ve been pursuing alternative treatment for Mika’s depression/anxiety/whole host of other issues? And how she’s been improving with the nutritional protocol we’ve been following? Well, it turns out there’s even more to the puzzle than we thought...and it’s huge. One of the tests our naturopath recommended was a DNA test for a mutation on the MTHFR gene. Scientifically speaking (according to the U.S. National Library of Medicine), the MTHFR gene works like this:


“The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.”


In other words, MTHFR produces an enzyme that allows your body to break down folate (also known as vitamin B9 or folic acid) into something your body can actually use. In fact, according to MTHFR Support Australia, “the process of methylation is involved with activities such as:

  • Detoxification

  • Repairing and building DNA and RNA

  • Processing hormones

  • Building immune cells

  • Producing energy

  • Repairing cell membranes

  • Turning the stress response on and off

  • Supporting neurotransmitters – the brain’s communication chemicals

  • Supporting fat metabolism.”


In other words, it’s critical for just about everything our bodies and brains do...every single day of our lives. And do you have any idea what kind of devastation it can cause if your body can’t break down that folate? We do, because a month ago, we got the results back on that DNA test and learned that Mika has not one, but two mutations on that MTHFR gene. As an aside, you may have inferred from this post’s title that I think MTHFR looks like an apt abbreviation of another word, because holy crap, has this thing wreaked havoc in our poor girl’s life. And in ours. And if I hadn’t gone in search of answers, we would never have known about either it or the fix, which couldn’t be simpler. But more about that in a moment.


First, you need to know that MTHFR gene mutations have been linked to depression, anxiety, poor memory, ADHD, autism, bipolar, and more. You also need to know that these mutations are hereditary. And you need to know that they may affect up to 40 percent of the population (some studies suggest it may be even more).


Let’s pause and let that last one sink in for a bit, shall we? Forty percent of the population. That’s almost half of us who are walking around with a totally, easily treatable condition that could be causing all kinds of havoc in our lives...and in the lives of our loved ones. Am I suggesting that everyone who suffers from depression or anxiety, or who has autism or ADHD, has an MTHFR gene mutation? Not for a second. But you can bet your sweet patootie that I’m questioning why every single child born isn’t tested for it, because holy hell, can you imagine the impact it would have on the world if even a fraction of those populations didn’t have to fight their demons Every. Single. Day. Of their lives?! If their diets could have been adjusted from the get-go and/or they could have taken a simple, inexpensive supplement instead of having to try outrageously expensive therapies and pharmaceuticals...or to suffer without, because they can’t afford those treatments?


Because that’s what it takes, folks. Dietary changes and/or a simple, inexpensive supplement. A methylated form of folate. A supplement that is already in usable form for our bodies, that lets them do what they’re supposed to do...and lets us live.


But can it really be that easy? You tell me.


Three months ago, when Mika embarked on this journey, she was unable to leave the house unless she was with either me or my husband. Insomnia ruled her life: she stayed up until four or five in the morning and slept most of the day. When she wasn’t sleeping, she was curled up under her weighted blanket in a darkened bedroom, sometimes watching YouTube videos but mostly just dozing. Her diet consisted of mac and cheese for dinner—she’d pretty much given up breakfast and lunch altogether, and if I didn’t make something for her, she didn’t eat. Her hand tremor was so bad that she had trouble feeding herself or playing video games. She had given up her art, then her gaming, then her friends, then her hope. Suicide became her backup plan. When she wanted to give up on her own life, I fought for it, every minute of every day.  


Now let’s fast forward to today. We’re three months into having her take methylated folate (our naturopath started her on it even before the DNA test, because the initial body chemistry tests had already indicated a problem) along with a host of other supplements intended to support the detoxification Mika’s body hadn’t been able to achieve on its own. The results are—simply put—astounding. Mika’s sleep patterns have reverted to near normal (bed between 11 and midnight, up between 9 and 10). She is eating a healthy diet based primarily on fruits and vegetables. She remembers on her own to take her supplements. One day last week, she coerced my husband into helping her clean the house as a surprise for me—an unheard of act (on both their parts ;)  ). The next day, she bussed into town on her own to pick up a book she’d ordered. Most nights, she joins me and my husband for dinner, conversation, television, or all three. When she remains in her room, she’s at her computer (online with friends) and not in her bed. Twice in the last two weeks, she has cooked her own meals...from scratch. She has bought new clothes for the first time in more than a year. She has started wearing makeup again. This past weekend, she took a friend downtown for a huge event involving massive crowds, nine hours of walking, and multiple bus rides...each of which is challenging to her all on its own, never mind combined.


We’re not completely out of the woods yet. Detoxification is a long and sometimes painful process, and we have a lot of damage that needs to be undone. Nausea, low-grade fever, exhaustion, and headaches occur sporadically, but most days...most days are good. Most days, Mika is funny and sweet and sarcastic and alive. She is happy—her word, not mine. And she is engaged in living again.


So...can it really be as simple as taking a supplement? For someone like Mika, who has the MTHFR mutation(s), yes. Absolutely, unequivocally, a million times over...YES. I’ve seen it with my own eyes. Lived it in my own home. Felt both her pain and her renewed hope in my own heart. And that...that brings me to the sadness and helplessness that has held me back from writing this. While I am grateful every day that we have had the ability to go after the answers we needed on our own, I’m overwhelmingly cognizant of the fact that not everyone has the means to do the same.


I know how many people are suffering out there. I know firsthand how hard it is to watch them and not be able to help. My heart breaks for every parent of every child who struggles, and I’m so terribly, terribly angry with a medical system that lets this happen.  I’m furious with it, because things don’t need to be this way. Things shouldn’t be this way. My daughter should not have had to endure 23 years of feeling like she didn't measure up,  or undergoing evaluation after evaluation to determine what was "wrong" with her. In this technological day and age, there is no excuse—none—for not disseminating such critical information as the research into MTHFR. With almost half the population potentially affected, every doctor out there needs to know about it (ours has never heard of it), every hospital needs to be testing for it, and the nutritional education and support*** to manage it needs to be commonplace. Period.


Self-education and a relentless search for answers has been my way of circumventing a system that has failed to meet our needs. I’m not very good at taking “no” for an answer, and I am known for my...persistence. I’m determined to find as many answers as I can and to share those answers with as many people as I can. Knowledge really is power—and it’s the kind of power that can bring about change...for you, for your loved ones, and for the many, many others who need it. To that end, I encourage you to do your own reading and research into MTHFR, and to start asking your own questions and demanding your own answers. Believe me, it’s more than worth the effort.





P.S. Here are a couple more links to help get you started. A Google search for MTHFR mutation will yield dozens more. Good luck...and please, let me know how you’re doing!


MTHFR Gene Mutation

What is an MTHFR Gene Mutation?


***Methylfolate, like any other supplement or medication, should only be used with proper supervision and support. Depending on your body’s biochemistry and the level of toxins that may have accumulated, side effects can occur, and they can be nasty. So please, if you're going to pursue this, do so with the help of a professional!

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