Saturday, February 14, 2009

Yawning

So funny. A couple of nights ago, Bill was in the kitchen, tired after taking care of us all. We had the stomach flu. He let out one of those deep yawns. The kind that tells everyone in ear shot that you are exhausted. A few seconds went by and Sadie makes exactly the same yawning sound. I giggled a little and told Bill, I think Sadie just yawned like you. I asked her to yawn again...She did it 3 times. It was the cutest thing.

Wednesday, February 11, 2009

Life

School is going great and everyone is impressed with Sadie's ability to sit for longer periods of time. She has gone back to her old eating habits...barely eating. We took her off the periactin for a short break because of the sleepy/grumpy side effects. Sadie's geneticist said that was fine. Usually people are on it for 2-3 weeks and then off again for a week or two. I feel my stress level going up again though worrying about her weight. She gained about 1 1/2 pounds during the 3 weeks that she was on the medication. But being back in school has brought the stomach bug to our house. Shelbi and I caught it a few days later. Sadie and Shelbi's stomach bug wasn't as bad as mine, they are both on children's probiotics, so I think that helped them. Sadly, I'm pretty sure Sadie lost most of what she gained. She will start the periactin again this week.
Other than the stomach bug, everything is the same around here. Chasing Sadie around the house to keep her out of trouble and Shelbi is following suit and helping me. Taking and picking Sadie up from school hasn't been that challenging. Maybe I'm just getting used to it?! Daddy's been helping take on Tuesday and Thursday. Thanks Daddy!

Monday, February 2, 2009

Another morning at the hospital

This morning we took Sadie to have her blood drawn for the Angelman Syndrome UBE3A test, AGAIN! They screwed up the paperwork for the 1st test and therefore it had to be drawn again.


As expected, the lab tech blew the first vein and was unable to get enough blood out of her other arm. They had to call in the "Vat" team (i think i spelled that wrong, and i don't know what it stands for except they are supposed to be able to draw blood when the "regular tech" can't do it). Finally, after the 3rd attempt and endless poking with the needle, they were able to get 2 1/2 tubes.


Now for the 3-4 week wait AGAIN.

The UBE3A test is sequencing the genes on the 15th chromosome. It would be like getting number cards 1 to 1000 and you have to make sure each is in the proper numeric sequence. If 53 and 58 are switched that means they are out of sequence. If her genes are not sequenced correctly, she will have 2 documentable diagnosis. The gene sequence test will indicate if she has Angelman Syndrome.