Stayin' alive...

After a relaxing week away from school, we're back to do two and a half more weeks and then Christmas Break. So....close...

I received my results from the lab tests and genetic test I had done at the endocrinologist's office. Apparently, I am:

1. Not immune to chicken pox, even though I had them as a child.
2. Deficient in Vitamin D (!!)
3. Heterozygous for hemochromatosis (body hangs onto iron instead of metabolizing it; I don't have it but I could pass on this gene)
4. Homozygous for the MTHFR mutation, which means my body has trouble producing functioning enzymes that break down homocysteine into methionine (part of the pathway that helps metabolize folic acid, necessary for healthy brain development)

Whew. It was a bit much to take in at first, but I've started getting more information. I can get the varicella vaccine, although we'd have to delay pregnancy by a month. That is not a problem since we've been unable to conceive up to this point. I've started taking the super-strong Vitamin D supplement- seriously, I cannot believe that I have a deficiency! Except, I've been inside since August and have barely been exposed to the sunlight since my room doesn't have windows. GREAT. I need to get out more. Grad school makes that difficult. I can't do anything about the hemochromatosis- it's the least of my worries. Even if Dave is a carrier, our offspring only have a 1 in 4 chance of actually having the disease. And it's not generally severe. The only thing I'm somewhat worried about is the MTHFR mutations (I call it the motherfu**er mutation because that's the only way I can remember it!). I did a lot of reading and freaked myself out about all the complications. I am homozygous for the A222v mutation, so one particular enzyme is only working at 7-10% efficiency.

Funny, though. I have felt totally healthy and normal pretty much all my life, so this must not be having a tremendous impact on my quality of life. As a biology teacher, I know that is is a combination of both genes (nature) and environment (nurture) that affects the expression of each gene. I feel that eating and living healthy has helped me lessen the impacts of this mutation. I do wonder how many of my health issues have stemmed from this mutation, though. All I can do now, though, is just let it go. If I continue feeling healthy, then I won't worry about the other things that might possibly crop up. I'll be taking an active folic acid supplement to decrease the risk of spina bifida- so scary- and then all I can do is eat well and leave the rest to God.

It's a lot, but I do feel that most of the results are manageable. Another step on the journey....namaste!