More good news!

Will had a barium enema and an abdominal ultrasound last Friday. I got the results back yesterday. Both tests were normal! I'm so thrilled. I was fully expecting them to be okay, but it's always nice to know for sure. He is doing pretty well right now. He has a cold, but is other wise good. He won't keep his eye patch on, and if we don't keep it on him and see improvement, he may have to have surgery on his eye. Keep thinking good thoughts that he'll wear that dang patch!

Finally...Some good news!

I got a call from the kids' pediatrician today around lunch time. I'm very lucky in that he considers me a colleague as well as a parent and he calls me personally instead of having his office staff do so. Cate has had 2 tests this week for cystic fibrosis. One was on her stool and tested her pancreatic function. It isn't specific for CF, but it lets you know if the pancreas works. She also had a blood test yesterday that will tests for about 75 of the mutations that cause CF. That takes 2 weeks to get back. Anyway, he called to tell me that the stool test showed that Cate's pancreas works well. Hooray! This doesn't mean she doesn't have CF, but it does make it less likely. Kids with CF typically have pancreatic failure, and Cate's works super right now. I was so excited to get some good news. Now we just have to wait on the blood test. It's going to be a long two weeks. If she doesn't have CF (which I pray she doesn't!), then we'll start down the road of a failure to thrive work-up. This involves many more tests, but I think CF would be the worst case scenario, so I can deal with anything else! Keep praying.

More test results

Will had his EGD on Wednesday. He did great through the procedure. I was in the room when they started giving him the medicine to make him go to sleep. He got woozy, and the doctor laid his head back on the bed. Then Will started giggling like he was drunk. It was so funny! Anyway, once they were finally able to get Will to sleep (apparently that wasn't easy), he went through the scope fine and was awake right after when I got to come back in the room and see him. The doctor told us he has erosive esophagitis and gastritis from his reflux. Will is supposed to continue his Prevacid and the doctor gave us some more foods to avoid - chocolate (Will's allergic anyway), greasy foods (like hamburgers and french fries), tomatoes, and citrus foods/drinks. Yea! More things Will can't eat. Anyway, he has his barium enema and abdominal ultrasound on Friday. Cate has blood work tomorrow to try to find out if she has CF. Continue praying for our kids. M0re updates to come.


I know it's been a long time since I last blogged...sorry! I'm super busy right now between work and the kids and all their appointments. Anyway, the kids had their check-ups at the general pediatrician's yesterday. Will is doing great! His reflux is under pretty good control and he's growing like a weed. He's up to the 75% for height and weight. He's now wearing a patch over his left eye for 4 hours a day to train his right eye to see straight. He's doing pretty well with it. He doesn't mess with it until it starts to stop sticking. He goes non-stop all day unless he's asleep. He's learned a new sign ("all done") and is doing his best to say look. Currently it is "ook." Cate has failure to thrive. She's gone from 90% to 10% in weight over the last 4 months. She had a positive newborn screen for cystic fibrosis and her sweat test was equivocal. We'll be doing more testing to see if she has CF soon. She also had rectal prolapse at the doctor yesterday, and this is seen fairly frequently with CF kids. I'll have to keep everyone updated on her testing.

Possible Diagnosis

So, Will was diagnosed with DAMP syndrome about 9 months ago. It seems like a good diagnosis, but it's really like a catch-all for kids with a lot of different symptoms that can't find another diagnosis. I've always felt like Will could have Angelman Syndrome. We had the FISH test done for it, and it was negative. The report said this ruled it out 85% of the time. Tonight a geneticist came and spoke at the parents' meeting at The Little Light House. I asked him what the chances were that a child could have a negative test and still have Angelman. He said 80%! Can you believe that?! That's such a huge number. He said that there can be one tiny deletion on one gene that causes the syndrome. This can only be detected with new technology called chromosomal microarray analysis. Will recently had this test done (not knowing what I found out tonight), but we don't have the results yet. I am anxiously awaiting these test results, and I'll be sure to post as soon as we get them. Will has a busy two weeks of doctors' appointments and tests coming up too, so I'll be posting as we get results and find things out.