Hi All .. I am Amy, mom to DS,Parker ...
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|Thu, 03-27-2003 - 3:28pm|
I had a normal pregnancy with an emergency C-section. Parker broke his own bag of water and his cord was wrapped around his legs. He was born with no other complications and required no oxygen at birth. We went home from the hospital on Christmas day.
Parker was always late on meeting his milestones. It amazes me now when I think back. I listened to my ped for too long. Shes a great doctor, but I should have followed my gut instinct. At his 6 mth check up I expressed concern ... at 9 mths I really asked questions and tried to get someone to listen ...at his 1 year checkup I simply stated that we have a problem and I expect someone to do something.
We were sent for a developmental evaluation and with in a couple of months Parker was in the full swing of therapy. It was about then that I found this board. We took Parker to see a neuro ...who ran some BASIC blood work and after the results came back normal declared him "healthy". We continued on with therapy and saw amazing results over the course of a year.
I cant say what spurred us on to keep searching ...my mothers instinct I guess... but we did. After a couple of run ins with neuro we started searching for a new doctor. We happened to find neuorologist Dr. Geoffrey Miller of Texas Childrens Hospital. He was the first doctor we saw that said the words "Angelman Syndrome". He said Parker had the "look" of an Angelmans child, but he was much to advanced in skills ... but we would test him anyway.
About a month ago, we received the results. Parker is deletion positive for Angelmans. Angelmans is rare genetic syndrome the effects chromosome 15. Some of its effects are mental retardation, seizure activity, balance and coordination issues, little to no speech, and sleep problems. He is considered high functioning for the syndrome. He does not exhibit a lot of the typical symptoms. Parker is cruising the furniture, self feeds, can drink from a sippy cup, is learning to use a spoon, can follow some simple directions, and is an incredible joy and the love of our lives.
Amy and Parker - 27mths/ Angelman