Wednesday, October 17, 2007

Cystic Fibrosis Scare

We received a phone call last week from our pediatrician that Ava failed one of her newborn screening tests. The state of Michigan started testing for Cystic Fibrosis in newborns beginning October 1st, 2007 (the day Ava's blood happened to reach the lab). The screening test for CF measures the IRT level. Ava's level was in the range that required further testing, so they then looked for mutations in the CF gene. This test was positive, meaning Ava either had CF or was a carrier for it. This past Monday we went to Devos Children's Hospital in Grand Rapids for a sweat test. Luckily she passed this test and is only a carrier for CF. The only thing negative about being a carrier is that when it comes time for Ava to have kids, her husband should get tested to see if he's a carrier. If two carriers have children there's a 25% chance they will have a child with CF. Approximately 1 in 28 people are carriers. So it's something she'll need to think about later in life.

Let's just say the past week was a bit scary. Things like this make you realize how fortunate you are to have healthy children!

Sophie is getting tested as well. We thought it would be a good idea to find out if she is also a carrier. Jeremy and I will be tested to see which one of us is a carrier (one of us has to be a carrier in order for Ava to be a carrier). We'd like to have one more baby and need to make sure we're not both carriers so we can make a smart decision. Knowledge is power!

If you'd like to learn more about Cystic Fibrosis, please use the link below. There's a lot of great information there! And if anyone has questions, feel free to email me. I know a lot about CF now as well as the tests.

http://www.cff.org/AboutCF/Faqs/

1 comment:

Unknown said...

I know I'm very lucky to have healthy kids. I can't imagine how scared you were. Glad to hear that she is just a carrier. They are adorable!