Monday, November 12, 2012


My gut-drove me to getting tested for MTHFR - and sure enough the test came back positive.  I'm heterozygous  CORRECTION - homozygous (doctor didn't even read off the number of copies of the gene correctly on the phone) for MTHFR, A1298C.  Just eight years ago, I was told that I probably had this, but that there's no sense in getting tested for it, because it's pretty harmless - just leads to an increased risk of high homocysteine levels. Since (at the time) I already had high homocysteine levels - there was no sense testing me for it.

Now, however, they've learned a lot more about it - although the testing is little known. But they have identified a high risk of vitamin deficiencies and toxicity due to this genetic defect.

The fact that I started to get extremely ill within three months of starting to take Folic Acid, B6 and B12 is now starting to make a lot of sense. That's the typical treatment for folks with high homocysteine values. But, certain people have trouble absorbing these vitamins and become ill from taking the standard over-the-counter doses. In fact, I tested positive for B6 toxicity within two years of starting to take it. My B12 levels are often off the charts - but I have all they symptoms of B12 deficiency - which made my doctor's think I am making things up... but which tells me that while I'm getting plenty of B12 nutrients in my diet, my body can't break it down to a usable form.

I have SO much to learn at this point. I have more questions than answers. There are dozens of lab tests that might help figure out the next best treatments to persue. There are some treatments that are recommended - but aren't recommended immediately - because I might be too ill to tolerate them. Go figure.

My doctor wasn't even sure what the test for MTHFR would be - and in fact, his lab said that they had never drawn for it before - with over ten doctor's in the office. They sent the labwork out and I got the results back in less than a week. The doctor suggested that I take folic acid, b6, and I don't need the b12 because I'm already on injections. Um... if I'm reading the newest testing and following it correctly - I'll get sicker by taking Folic Acid and B6. So, I don't think so.

There are other forms of the vitamins that are more usable given this condition - so I'm investigating what those are and if everyone should take them, or just some folks. So much to learn.

Apparently this condition is quite frequent. And apparently the vast majority of individuals who have it don't have any issues. But considering it's been identified as a possible contributor to a TON of chronic illnesses and I've been chronically ill now for 8 years? I'm thinking that this is the right first step for figuring out the next step to helping me feel better.

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