The first item on my report was … that I am a carrier for a genetic condition. Whoa! Really? The next question was, “What the heck is MTHFR Deficiency?”
I dug around a bit online and found out this is, shall we say, not a bit deal. One of my first steps is usually to try to find out other names for whatever it is I want to know. Another name for this is Methylenetetrahydrofolate Reductase Deficiency. Ie. Methylene-Tetra-Hydro-Folate Reductase Deficiency. It is also associated with Homocystinuria, and some people call them the same thing (but that seems to not quite accurate). The short version is this is really common, and even if you have it usually it isn’t very serious. Chances are you could have it and never know it.
They say 45% of white Americans will have at least one copy of the various genes that are associated with this. I have two copies, but of two different versions. That probably means that both my parents had one, but might not. I don’t know enough yet to make sure, and would have to get more information. I don’t know enough to understand if the two versions are on the same gene (a copy from each parent) or if they are involving multiple genes with related effects. If both my parents have it, then my other siblings probably all have at least one copy, which wouldn’t be a big deal if it was true. When it is most important to know about this is when you are having kids, and all my sibs have had all the kids they are going to. The public info about this points out that the main solution is to take vitamins with folic acid in them while pregnant, and since they recommend that for everyone anyway, you’re covered as long as you follow standard medical advice.
Here is the link, out of all the ones I looked at, which had the most helpful information for me.
Counsyl: MTHFR Deficiency: https://www.counsyl.com/diseases/mthfr-deficiency/
What was interesting for me was when I started looking at the Homocysteinemia aspect of it.
I fit bits and pieces of the description. Obviously, I’m not intellectually disabled, but I do have:
– High arches of the feet
– Knock knees
– Long limbs
– Nearsightedness
These all could be attributed to other causes as well, but I found it curious. I have particularly strange feet (at least according to shoe salesmen), and limbs so long that none of the normal ergonomic guidelines apply to me. I am also mentally noting that they say to be particularly careful of blood clots for people with this condition. As far as we know, I don’t have the condition, but this is something I’ll want to share with my doc and discuss. I’ll also want to talk about this with my kids and siblings, even though it is not a reason to worry.
UPDATE Sept. 27, 2018:
This is one of the earliest posts about MTHFR Deficiency in this blog. People have expressed concern about how this post reflects the conflation of folic acid and methylfolate which is so common in healthcare environment, among doctors and patients, and which has such negative impacts for persons with MTHFR deficiency. Please see also some of these other posts on this topic:
* It’s … Complicated. (A.K.A. “MTHFR Deficiency, Sequel”)
* Folic Acid, More Complicated than You Might Think
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