Sunday, April 29, 2012
Chat with Geneticist
I talked with Addison's genetic counselor at Children's Hospital of Michigan and she is still concerned for Mowat-Wilson Syndrome, so we are going to have the testing done for that next. I'm still wondering about Rett syndrome and the possibility of clinical diagnosis despite the genetic tests being normal. She said whole genome sequencing may be our next step in the coming months, that we shouldn't pin all our hope on it because its not often it gives results, but she said it may be something that Addison could benefit from. We are going to see them in about 8 weeks when the Mowat-Wilson testing is back and kind of regroup and figure out what is next.
Posted by Adam & Kimberly at 12:21 AM