on genetic testing

I don't know what the big fuss is all about. Of course it is beneficial to be tested for genetic diseases. Especially since nowadays you can find out if you are going to have heart disease or breast cancer (for instance) in the future! Of course this is a good thing! Many deaths can be prevented.

My sons have both been tested for cystic fibrosis. My older son was born with medical problems leading to a tentative suggestion of CF, so he was given a genetic blood test when he was under a week old. This test was positive. In fact, we found out what genomes he carried (DeltaF508 from my husband, and Q493x from me, in case you're wondering -- which you're probably not, but oh well), which helped us figure out what the course of his disease might be, and how to treat his disease. This is so valuable!

My younger son was tested via amniocentesis when I was about four months pregnant. My husband and I wanted him either way; if we hadn't, we wouldn't have gambled on another baby. Andy had a 25% chance of having cystic fibrosis; a 25% chance of being completely unaffected by the gene; and a 50% chance of being a carrier (like my husband and myself). As it turned out (3 aggravating weeks later), he was totally unaffected, much to our relief. And let me say that having a "normal" baby was really weird for us!

Some may ask, why bother having him tested in utero (and risking the amniocentesis) if we wanted him either way? Well, the answer is this... Ricky had problems in utero (a ruptured) bowel. So we wanted to know if this baby would have CF so we could look out for that kind of thing (extra ultrasounds, etc.). So that's why we took the risk.

And I guess that all explains why I feel that genetic testing is so important. I don't know what to say for the folks who have abortions after finding out their child is "defective". I don't happen to agree with that, but I also don't want to open up a huge discussion about abortion here. Abortion has its purposes, I believe, but I don't think that weeding out "undesirable" children is one of them.

That's about all I have to say about that. :)