Since the last post, I spoke with both the genetics doctor and the genetic counselor. The genetic counselor had to do some research on the test that Sadie had in July. She did in fact have the MECP2 test in July and they are nearly 100% certain she does not have Retts Syndrome. However, based on observation, she still exhibits charactaristics that are so similar to Angelman Syndrome. The doctor still wants to have the UBE3A gene sequenced on the 15 chromosome. There is a 1 in 1000 shot that she might have Angelman's. http://www.angelman.org/stay-informed/facts-about-angelman-syndrome/
Either way, we are starting to come to terms with the future. We are by no means giving up, we are just being realistic about the situation. The doctor says that no matter what, Sadie can live a happy life. We know this is true, but all the wonderful things that make a happy life are going to be different. Finding happiness through her eyes will be our goal and we are seeing things differently. Our acceptance is taking the pressure off in many ways to enjoy her and her life without all the pressures that other "genetically normal" children might face. We'll experience all that with Shelbi. Who can by the way point to 9 body parts at 16 months. WOW. We are blessed with love for both girls, but life will be different. A GOOD Different.
Either way, we are starting to come to terms with the future. We are by no means giving up, we are just being realistic about the situation. The doctor says that no matter what, Sadie can live a happy life. We know this is true, but all the wonderful things that make a happy life are going to be different. Finding happiness through her eyes will be our goal and we are seeing things differently. Our acceptance is taking the pressure off in many ways to enjoy her and her life without all the pressures that other "genetically normal" children might face. We'll experience all that with Shelbi. Who can by the way point to 9 body parts at 16 months. WOW. We are blessed with love for both girls, but life will be different. A GOOD Different.
