Genetic Testing

Not sure this is blog-worthy, but it's something significant in our lives right now. When E was born he had the routine heel prick/blood work done at the hospital. A couple weeks after we got home, we got a call saying that one of the tests was "irregular" and that we needed to come in to have a more extensive test done. So, off to Children's we went...E just a few weeks old. This time it was way more than a simple heel prick. They had to draw a tube of blood from his little arm. He screamed and I cried too. A few days later E's dr called and said that the enzymes his body produces to digest a sugar called galactose (found in lactose), were low. The problem? This is a genetic disorder that can cause a serious, but rare, illness called galactosemia. E didn't display any symptoms of having galactosemia, but the numbers in his blood test indicated that he's a "carrier" for the genetic mutation. So, the doc wanted to do further genetic testing to see if he was the type of "carrier" that would effect his dietary needs. Galactose is found in dairy (breast milk) and if his body isn't digesting the milk properly, it could be building up in his system. The geneticists at Children's suggested that we have the blood sent to the Mayo Clinic to have more extensive genetic tests run.....

Sooo, this has all been going on since E was a couple weeks old, but, I'm happy to say that we finally got to the bottom of it. I spoke with E's doc early this week and he said that E is a carrier for the rare genetic condition, galactosemia. The good news is that it won't effect his life, or diet in any way until he decides to have children of his own....he'll need to make sure his partner is not a carrier as well, which would increase their chances of having a child with galactosemia. The doc also recommended that Dr. M and I be tested to make sure that both of us are not carriers as well (for future children).

Anyway, I'm glad we got to the bottom of all of this. But can't help but question the fact that we had genetic testing done on our little boy (and possibly on Dr. M and I). I keep hearing so much about it on the news lately....both good and bad. If we're able to prevent the birth of a very sick child in the future, it was worth it.