Hi there!

Oh hey, what’s happening?

Not much, MTHFR, how about you?

What did you call me?



Wait! What?! You know about MTHFR?

I think we all know what a MTHFR is, you MTHFR.

Wow, what a relief! I’m slightly weary from navigating the world of assorted special needs and trying to explain it to well-meaning folks who still don’t really get it and who probably think I’m just a neurotic, crazy, high maintenance mother, which isn’t altogether untrue, but whatever. So, after getting Boy’s lab work back this week and learning he has a defective MTHFR gene, among some other stuff I don’t feel like talking about right now, simply knowing there’s someone out there who is familiar with it is SUCH A RELIEF.

Someone who knows that MTHFR is an acronym for methyltetrahydrofolate reductase and that it’s a gene which produces and instructs an enzyme to convert (or methylate) the folate in our diets to the active form called 5-Methyltetrahydrofolate and like all genes, it acts as a light switch – turning on or turning off various body processes.

So what’s the big deal? Well, first, the methylation process is responsible for cellular repair, detoxification and neurotransmitter production, and also healthy immune system function. Methylation is a core process that occurs in all cells to help your body make biochemical conversions. People with a defective MTHFR gene cannot metabolize or convert folate into the active type that is needed to cross the blood-brain barrier and do its work. When they are exposed to toxins, they have a harder time getting rid of them which can lead to all sorts of health issues. Second, if you belong to a Special Needs, ADHD, PANDAS/PANS, or Autism group, you’ve probably noticed a lot of discussion about MTHFR and this conversion or methylation process. MTHFR has been widely studied in the past decade in terms of cardiovascular disease and cancer, and it now appears to be a pretty big deal for those who are raising kids with developmental or neurological differences and for those fighting chronic infections, depression, and anxiety.

WhotheMTHFRknew?  Its kind of UnMTHFRbelievable, isn’t it? This one gene impacting so many systems, so many people?


A defective MTHFR gene (or in Boy’s case, a double whammy or TWO MTHFR mutations given to him by both me and his father) increases risk for:


o   Addictions/Alcoholism

o   Allergies

o   Anxiety

o   Autism

o   Chronic Viral Infection

o   Depression

o   Diabetes

o   Epilepsy

o   Migraine


Obviously, it’s nothing to ignore.

While it’s true that a defective gene can’t be altered, it’s possible to minimize its impact and to help this particular gene do its job by supplementing with the active form of folate – methylfolate, or specifically, L-5-MTHF. There are many different terms used for methylfolate and so, again, its important to be under a doctor’s care so that you choose the right one and the correct dose.

Dietary changes like consuming more greens and less bread can make a difference, as well.

There are additional recommendations, but lets not get crazy because you know this biomedical stuff can go there. And I’m not going there. I can’t. At least not yet.

Anyway, one step at a time, and so yeah, SO GLAD I didn’t have to tell you all of THAT, MTHFR.

Postscript: I wrote this last night in my midnight delirium, after obsessively researching and thinking about all of the pieces of Boy’s puzzle, and how the pieces fit together. This new information brings another piece of his puzzle to the table, it helps us to begin to make more sense out of his earlier developmental/neurological differences and the emergence and/or identification of current ones. Oh, and remind me to have Girl tested for obvious reasons, ok? What the hell, ALL of us should probably be tested, including everyone on my side of the family. And while I’m relieved to have this information and to know there are things we can do to help this gene do its job, which hopefully will provide a bit of relief from some of the challenges Boy faces and will help prevent the risk of future health issues, I’m overwhelmed by it at the same time. I’ve worried for quite a long time that there’s more going on with Boy medically than we’ve ever been able to determine. While I’m glad to be further along the path of figuring that out, I’m also a little conflicted, rattled, because I’m worried this is only the beginning of untangling a big tangled mess. There’s been some discussion recently about the possibility of an autoimmune disorder and/or immune deficiency – tied to the last couple of years of frequent illness and infection – and I feel like we’re opening up a whole new bag of issues. And I don’t want anymore issues, for him especially, or for me. The anxiety will pass as soon as I feel like I’ve become a sufficient enough expert on whatever IT is, I guess. Ha. I just want to be equipped to give him whatever it is he needs to be his best, whatever that is. And this joking around I do? I don’t know about you, but I’ve gotta laugh because if I don’t, I’ll cry, and I might never stop. Which I’m slightly ashamed to admit because I know things could be so much worse and we are lucky because we can DO SOMETHING about this MTHFR thing and overall, Boy is finally moving back into a decent space. I just thought he was out of the woods, you know? And then BOOM! GT/LD, DYSGRAPHIA, ADHD, anxiety, IEP, new school, new everything, total freaking meltdown, and having to put the pieces back together again, in a whole new way. WhattheMTHFR?

And the dietary changes? For my boy who eats 5 foods, none of which are green and many of which are bread? Again I say unto you, WhattheMTHFR?

Oh, and just FYI, I pulled the scientific research portion of this post from the Internets in an attempt to make some kind of very beginner sense out of it for me and my pea-sized brain. If it doesn’t make sense to you because MIDNIGHT DELERIUM and/or if you’re interested in learning more, there is actually a ton of information about MTHFR out there, presented in all sorts of formats that are certainly less scattered than mine in this case. I’ll also try to go back and specifically list the sources I used – primarily NIMH, the websites of several physicians who specialize in this mutation and its treatment, and handouts Boy’s doctor gave us – but don’t hold your breath because I’m not a professional anything and I’m not trying to be either.

And yes, as a matter of fact, I most certainly DO appreciate that the MTHFR acronym can be manipulated by my sick sense of humor and my LOVE of bad words, ESPECIALLY THE F WORD.

And maybe the very, VERY best part of this whole thing? Wow, I can’t believe I almost forgot to tell you guys this. Boy was there when we met with his doctor to review the test results because that’s just how this particular doctor operates. Boy was reassured that this finding is a good thing and that the supplement he’ll take is another tool in his toolkit that will help him feel better and then he goes, “Yes! Finally! I’m A Mutant!”

The end.


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