Worried...Please Pray

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.

Test Results and More

We got the results on Will's UBE3A test back last week. They were negative. I know to most people this would be great news, but I was actually a little diappointed. I know in my heart Will has Angelman Syndrome (AS), and there is even a doctor who is a national specialist on AS who thinks Will has it too. Now, we'll have to wait on a clinical diagnosis. It doesn't change who Will is or how he would be treated (therapies, etc), but it would have made other things easier. Oh well, I know God knows what He's doing!
I also spoke with that doctor about Cate. I told him about her trouble gaining weight and all the colds and respiratory tract infections she gets. I told him that her newborn screen was positive for cystic fibrosis (CF), that her sweat test was equivocal (no help at all in diagnosing her with CF), and that her mutation panel was negative (makes it less likely that she has CF). I asked him if she should undergo futher testing to diagnose CF, and he said it sounds like she has a malabsorption syndrome and we should see a GI doctor. He said CF would be less likely. This is a good thing because the average life span for someone with CF is 30 years, and malabsorption syndromes are treatable. So, now we're in the process of getting Cate in to see a pediatric gastroenterologist. There is only one group here in Tulsa, and they actually recently had a partner leave, so it will probably take 2-3 months to get in. Pray she does well and continues to grow and that we'll get an answer, one way or another, as to what's going on with our teeny tiny princess!

Happy Birthday Cate!

Yesterday was Cate's first birthday! She had her check-up, and the doctor said she looked great. She weighed in at a mean 18 lbs. 8 oz (10th percentile) and was 29 in. long (50th percentile). He is pleased with her growth and development.
In other news, we're still waiting for the UBE3A test results for Will. The doctor at Baylor said it would take 3-4 weeks, and it's been 2. Pray that I have the patience to wait another week or two without going nuts. More updates to come.