Posted by Mom to Will & Cate on Friday, April 25, 2008
Cate is sick again. She has an upper respiratory infection. She just got over one that started two weeks ago. This makes a total of ten since she was born. This is a little unusual since she doesn't go to daycare and isn't around other children much (other than church on Sundays). The reason I'm concerned is that (as some of you know) her newborn screen was positive for cystic fibrosis (CF). We didn't worry too much at first because we have no family history, and she was doing so well. Then, she started falling on the weight portion of her growth chart. So, we had a sweat test (supposedly the confirmatory test for CF) done, which was indeterminate. Her score was too high to be normal and too low to be positive. This lead the doctor to do an "expanded mutation panel." This tests for 97 of the mutations that cause CF. It was negative (yea!). But, when the doctor called to tell me the result, he said there are over 1500 mutations that cause CF, so this doesn't mean she doesn't have CF. I was like, great! I tried to forget about it again, but then she started having all of these colds and respiratory infections. She has even been hospitalized once with one of her infections. She has some other symptoms that are characteristic of CF that I won't go into, but needless to say, I'm worried that she has CF. CF is a chronic disease with no cure. It shortens the lifespan to about 30-35 years. People with more rare mutations can have a slightly better prognosis. In fact, there are some people on the CF forum in their fifties. We're going to talk to Cate's pediatrician Monday about going to see a pediatric pulmonologist who specializes in CF. Hopefully we can get some answers. I hope with all hope that Cate is fine and she doesn't have CF. However, if she does have it, it's important for us to find out as soon as possible so she can get the treatment that requires. Please pray for us as we go on this journey. I'll be posting more updates as they come.