MTHFR-…WHAT did you just call me?!?!

I recently had some genetic testing done through a company called 23andme. When the results came oh boy was I confused…just take a look at this mess!


What the heck does all that mean?!? Well I’ve been hard at work researching, and I’m STILL confused, but here is what I have found out…

Let’s just start with this part…


First of all, I am what is called “compound heterozygous” for MTHFR mutations. This does not surprise me, as mutations of the C677T gene run in my family (1 cousin is homozygous, and 2 are heterozygous, on my dad’s side).

– Heterozygous means I have a + and a -…meaning I have 1 normally functioning gene, and 1 mutated one

– Homozygous means ++…meaning both genes are mutated.

Apparently being compound heterozygous is sort of bad. According to the information I have found, the order of potential severity from most to least is:

1. C677T & C677T (Two C Copies – C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A – Compound Heterozygous)
3. C677T (One C Copy – C677T Heterozygous)
4. A1298C & A1298C (Two A Copies – A1298C Homozygous)
5. A1298C (One A Copy – A1298C Heterozygous)

As far as what that means for my life, I’m not entirely sure. Here is a link with some good info about the MTHFR C677T gene…

Essentially the link says to become a rabbit and eat only veggies, but not TOO many veggies! Remove any mercury fillings, avoid using anything that touches my food and is plastic, get rid of all the carpet in my home, as well as any gas appliances…oh screw it, I might as well just stop breathing air, that’s got to be bad for me too right?

I’m mostly being sarcastic…but really, read that list all the way through…

This link gives you a list of conditions that can be caused by being compound heterozygous for MTHFR mutations…

Out of that list of conditions, I am currently diagnosed with 7 of them, and am currently being tested for or need to be tested for 2 more. I also have a family history of at least 4 more conditions, on top of the ones I have in common with some family members. Pretty scary, right?

From what I can figure, these mutations mean that a) I have problems processing vitamin B12 and folic acid  and b) I am at an increased risk for blood clots. Therefore I have been taking special forms for vitamin B12 and folate and have discontinued birthcontrol (as it also raises your risk for clots) and will soon be starting to take a supplement that is supposed to help with clotting risk.

That’s about as much as I know about all that. There is SO much info out there, but a lot of it is conflicting, and all of this is so complicated that I feel like I have just begun to scratch the surface of understanding it all. Maybe someday I’ll really get it…because I find it all fascinating.


Filed under Chronic Illness, Uncategorized

2 responses to “MTHFR-…WHAT did you just call me?!?!

  1. I don’t think scientists get it yet. Publish if you figure out what kind of craziness it means. 8)


    • If only my foggy brain could handle that much information, I totally would become a scientist and solve it all! Perhaps you’ll see my name in a scientific journal some day :]


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