Wednesday, November 25, 2009

Hold everything... I haven't even thought about my family yet!

The entire procedure thus far had been such a whirlwind, that I hadn't really given as much thought as I should have to the genetics involved. As I now realize, the gene that causes A1AD is even more common than the one that causes cystic fibrosis... And yet very, very few of us have heard of it.

When I started thinking about the genetics of the disease, I was drawn back to the basic high school genetics lesson -- the dominant gene and the recessive gene. Since I was a ZZ, it was clear that I would give my two kids the Z allele. But what would they have received from my wife? And how did I get them tested without harming their ability to obtain health insurance, life insurance, or perhaps even employment when they grew up?

You see, our medical community is reaching new levels of understanding our bodies every day, and our society and legislators can't really keep up. So the fear is this: If a person is pre-disposed to having a genetic disease (for example, a ZZ Alpha), but have no symptoms, can a life insurance company deny them coverage? After years of work, the Congress had passed (and the President had signed) a new law referred to as GINA (The Genetic Information Non-disclosure Act). However, until many years pass, and the inevitable challenges of the law are decided on by the courts, nothing is really set. Because of this, I knew that the kids had to be tested... But I still didn't know how?

I received information regarding a confidential testing program done at the Medical University of South Carolina (MUSC). They would test for the disease anonymously and give us the information back directly. So, we sent away for a kit, and my wife sent her test back in to them. Our thought was this: If, by some miracle, my wife was an MM (the "normal" alleles), then our kids would be MZs. By the lessons that we recalled above, an MZ would make them carriers of the disease, but without symptoms, right?

Of course, it can't be quite that easy!

No comments: