Good News at the Geneticist Checkup

Last week was Whitney's annual genetics checkup. Dr. Lewin has been on leave for a while so we met with Dr. Bleyl for the first time. His office isn't actually taking new patients, but since he was already seeing Taylor, our -1p36 friend from Idaho, he agreed to see Whit.

Whitney has gained what I consider to be some good weight since last year. She's currently 24.5 pounds and around three feet tall. That puts her at the bottom or completely off conventional growth charts, but the curve of her growth plot seems healthy. That was great news for us, since we still stress about how skinny and weak she is.

Dr. Bleyl was also pleased with her reflexes, vocabulary and attentiveness. We talked about scoliosis during her physical exam. That's a concern I've been reading a lot about in our support group. He had Whit stand so we could look at her spine, and then bend over to look at the spine's position when it's outstretched. It looks straight and healthy, so we're grateful for that too.

He said we should check in with the cardiologist since it's been a couple of years. Just to make sure she doesn't need any medication to help her heart's function. So we'll schedule something soon.

Dr. Bleyl also wanted to make sure we contact him if we need any help getting additional services and care for Whitney. I was pleased he'd volunteer that kind of help. It always great to have new weapons in the fight to get the best care you can for your child.

So it was all good news at the geneticist, in fact things are going so well, we'll probably go two years before we go in for another checkup. So thank you, Dr. Bleyl, for your help. We won't see you soon! ;-)