Unique

After David being diagnosed with a rare chromosome "genetic" disorder I was referred to a web site called rarechromo.org and I found there facebook page for parents who have children with a rare chromosome disorder. There is approximately 3 families that are registered in the United States and most of the families are registered in the UK. My son was tested by his Metabolic and Genetic doctor for Fragile X Syndrome and even though he had the defect of the "X" chromosome he did not have Fragile X. It's not until 3 years later that he got tested for the deletion of his genetic chromosome and therefore diagnosing him properly. I recommend that ALL parents have their children tested by a genetic doctor, you just never know what you'll find out.

Friday, June 29, 2012

Hello, it's been a long time since I wrote anything so bare with me...lets keep you up to date on the clinical trials, I haven't heard anything yet so just kind of laying back and will try to contact Dr. Hagerman at a later time. I have been busy with work and just playing catch up with "to do" things. David has graduated 5th grade and is now headed to middle school, nervous and excited at the same time. New teachers to deal with and new schedule to handle, hopefully David will adapt. He has been more self advocate for what he wants at home, just by making sounds he can let me know how he feels about his t.v. shows, music or even his snack. He has grown taller, about an inch and he has gotten more demanding. His attending summer school and still loves the bus ride. As soon as the bus pulls up front of our house and he notices us, he just smiles and flaps his hands while he laughs...beautiful sight. Still loves to play with the faucet in the bathroom, turns it on and just goes wild splashing water. Have a nice summer everyone.