Trying to be...
2003-11-07 - 4:54 p.m.
Most of the time I forget that D is adopted. Its not a big deal to him, so thus, its not a big deal to me.
However, when getting a phone call from your doctor informing you that you are a carrier for a genetic birth defect, one that is only an issue if both partners carry the gene and that only people of a certain background are carriers....well, in those instances, I wish I could say for certain "Nope. Not him...."
But meanwhile, I got a call from my doctor. My bloodwork all looks good (which is so encouraging) and while I am not a carrier for Tay Sach's disease, I am a carrier for Gaucher's disease, the most prevalent genetic disorder for those from Ashkinazic Jewish decent. I'm not a big fan of phrases like "well,he doesn't LOOK Jewish" in general but you know, he really doesn't. I mean, I'm about 95% certain there is no Jewish blood in him. But that 5% is not small enough for me to gamble against when thinking about the fact that this could affect this (and any and all future) baby.
So he's getting tested on Monday, which is also our wedding anniversary. Which means we will leave for vacation without the results....alas I know there are so many things we cannot control in life, and this is but one bump in the road...but wow.
So a baby can only inherit the disease if both parents are carriers. Then if both parents are carriers, each child has a 1 in 4 chance of inheriting the double recessive gene (see, general biology DID teach me something). So really, we're talking low risk here.
But then I read that there are three types of Gaucher's disease. Type 1 is treatable (but not curable) with an agressive course of treatment. Type 2 is the rarest, but causes progressive brain damage and death by age 3 (mostly by age 2). Type 3 there is some treatment for, but not as successfully as Type 1.
Its a lot to digest.
