Did I ever mention how much I hate waiting?
We got our scholarship application in yesterday, so now we wait to hear back on that. The good news is in the meantime we are working on getting a time slot for a consultation with Dr. H. The leading specialist in the field of RSS/SGA. I am so excited about this!!! I can not wait to meet with Dr. H and see what her opinion is on D.
Today, I called all of Daylon's doctor's to get copies of his medical records to take with us. I also called Shodair to see what all they tested for when they did the genetic testing last fall. All they checked on was 22q deletion and to make sure he had the right number of chromosomes etc. So, I asked them about running the tests for RSS just to make sure we aren't missing it. The genetic counselor is going to talk to the doctor and see what he thinks of testing the genetics that go along with RSS. They had decided in the beginning not to test him for it because he is symmetric. In other words, he does not have the obvious characteristics that some RSS children have. Either way the treatment would be the same. I just find it funny that several people we know have commented on how he reminds them of an RSS boy they took care of at one point and now we have the SGA diagnosis which is very similar to RSS, and then find out that it's never been ruled out. Guess we will see what happens.
Waiting for records. Waiting for HRC to call to get us set up with his meds. Waiting to hear back about the testing! Patience is not my strong point!!
You can find more information on RSS here.