We got Cate's tests results back, and they were okay! Hooray! The problem is, we already were pretty sure she didn't have one of the major mutations that causes CF because she hasn't had any respiratory problems so far. This test was only for the major mutations. There are about 1300 minor mutations that cause CF, and there is not a test that tests for all of them. So, basically, we're in for more testing. This time we have to wait about 2 months to get an appointment with the specialist so he can answer our questions, make a plan, order the tests, etc. So, we wait.
Will saw the developmental pediatrician today. He was very pleased with Will's progress and is now calling Will's disorder Pervasive Developmental Delay (PDD). This is a well-known and established diagnosis and more importantly is paid for by insurance companies! I still think he has Angelman Syndrome. We're going to Arkansas Children's Hospital in Little Rock next month for him to see a neurologist I worked with as a medical student who has a lot more experience with Angelman than the neurologist here in Tulsa. Will is also most likely going to have surgery next month to help with his reflux and his retractile testicles (sorry if that's too graphic). He will stay in the hospital for 3 or 4 days if all goes well.
Please keep us in your thoughts and prayers as we prepare for this.