Thursday, November 08, 2007

Don't Tell Me About Anything Else, Please

Sometimes information is a good thing, sometimes it's a bad thing. In the case of pregnancy, I think we sometimes err on the side of being overly cautious at the expense of causing ourselves anxiety for weeks or months on end, until test results come back or until the baby is actually born and we see for ourselves if anything truly is wrong.

Come to find out that I apparently am a carrier for one of the 1200(!) gene mutations that cause cystic fibrosis. I had no idea I was a carrier, and we didn't know throughout our pregnancy with Rachel, therefore we didn't worry about it. I wouldn't say I'm truly worried about it because I think this baby is going to be born healthy in all aspects, but now that I know the possibility *might* be there, there's a slight undercurrent of anxiety. Now James has to have his blood tested and, if he's also a carrier, that means we have a 25% chance of having a child with CF. The odds of a person of European descent being a carrier of one of the gene mutation is around 1 in 22 to 25, so the odds are great that he will not be a carrier. And I'm choosing to operate on that assumption. We should find out in the next ... I don't know, week? It took about 8 days total for me to get my results back. He had his blood drawn 8 days ago, but we don't know if they sent it to the same place or not, just that they were sending his sample to California for testing.

The other thing my doctor suggested is a 2-part screening test that's done with blood tests and ultrasounds. I knew it checked for Down's Syndrome but didn't realize they were also checking for open neural tube defects (like spina bifida) and a scary thing called Trisomy 18, which I'd never heard of before we showed up for part 1 of the test. Trisomy 18 occurs when a child has an extra gene, and it's a fatal disease. 90% of babies born with it don't live past their 1st birthday.

Trisomy 18 wasn't something I even knew about a few weeks ago, and CF isn't something I thought could be a risk. Now the awareness is there, and a little bit of fear along with it. Honestly, I don't think I'd ever want to get tested to find out if I have a gene for breast cancer because I feel like I'd live my life in fear of getting it or would take radical steps early just in case it should ever develop.

I'm thankful for medical technology and for how much safer it is to give birth now than 100 years ago, but sometimes information can be too much of a good(?) thing.

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