My Smart Boy!

This afternoon Will and I were playing with his MagnaDoodle. I'm sure you all remember this toy. It's the one with the special pen that writes on the surface and has the knob you move from side to side to erase what you drew. Anyway, I wrote Will's name on it and showed it to him. Then he pointed to himself, pointed to his name, and pointed back to himself. I tested him and he did it again. Then I put Cate's name on it, and he just stared at it. I think he can read his name, or at least recognizes it!!! This may not mean a lot to some people, but to me it's AWESOME! I always knew Will was smart, and that he just can't express everything he thinks or feels. This let me know I'm right. Just wanted to share with you all how smart my BudBud is!

More Good News (Sort Of)!

I took Cate to the pulmonologist in Oklahoma City yesterday. He said that Cate's history and chest x-ray findings are consistent with asthma, not cystic fibrosis! Hooray! He said with her low sweat test score and no mutations showing up so far, tha he would be shocked if she has CF! We are still going to have our pediatrician do the full CF mutation panel so we can completely rule out CF and put our minds at ease.

The pulmonologist is starting Cate on an asthma regimen. This included twice daily inhaled steroids, a short course of oral steroids, and albuterol as she needs it. He said we should start seeing some improvement over the next few weeks. If is not asthma (which is very unlikely according to the doctor), then she won't get any better and could possibly get worse. If this happens, he'll do more testing in 3 months when we go back. I'm praying that it is asthma and that she does get better. Plus, we'll have already done the full mutation panel and will know for sure that she doesn't (hopefully!!) have CF.

More updates to come. When we get the results of the mutation panel (in 5-6 weeks), I'll let everyone know. As for now, please pray that this is asthma (weird to pray for that I know) and that the medicines help Cate.

Good Results

Cate had another sweat test today. This is part of the work-up for cystic fibrosis. Her first result was 41, which is indeterminate (too high to be negative and too low to be positive). The result today was 18!!! This is well within the normal range. I was very excited to hear that. It doesn't completely rule out the possibility of cystic fibrosis though. There are many people with CF who have had sweat test results as low as 10. I'm hoping this is a good sign and that Cate doesn't have CF. We're going to see a pulmonologist in Oklahoma City on Tuesday. I am going to ask him to do a test that tests for 1500 mutations that cause CF. If it's negative, that means there is a less than 1% chance she has CF. If she does have CF, it should pick it up. We're praying that she's just kind of puny and that everything will work itself out. Pray with us that she doesn't have this disease and that she'll gain weight and stop having all of these respiratory infections. I'll post again after we see Dr. Royall on Tuesday.

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.

Fantastic News!!!

Get this! We have been trying to get this special bed for Will for about 6-8 months now. Our insurance company denied it and said it wasn't covered under our policy. The bed costs $6000, which we cannot afford. We have been trying really hard to figure out something else to do because he is too big for his crib, and it is no longer safe for him to sleep in. Well, yesterday we got a call from the medical supply company saying Will's bed was in and they needed to set up a time to deliver it and set it up! Jeremiah spoke with them today, and they're going to deliver it tomorrow morning at 9:30!!! I don't know who paid for it or if our insurance or Will's medicaid changed their minds. I really don't care. I can't believe we're getting this bed. It truly is a miracle!!! More updates to come.