Saturday, April 2, 2011

DiGeorge&Sean

DiGeorge Syndrome: is a chromosomal microdeletion. Conotruncal Congenital Heart Disease typifies this syndrome. We found out when Sean was a month old that he  had several issues with the heart. He had Restriction to the Aorta, and Congenital Heart Murmur. They thought he had a stroke because the left side of his face drooped. We found through Speech Therapy that he had a Soft Cleft Palate. We saw a Pediatric Cardiologist who was associated with the hospital where Sean was born. He saw the Cardiologist until  he was 6 years old. They did some more test and found that  he had out grown the Heart Murmur's and was released from the Cardiologist care at that time. Sean's pediatrician is keeping a close eye on his heart condition and will give orders for a new test if needed.
Velo-Cardio-Facial Syndrome: also known as VCFS or 22q11.2 Syndrome or as DiGeorge Syndrome, is the most common Syndrome associated with Cleft Palate. Approximately 1 in 2000-5000 children are born with VCFS. Sean's Genetic's Physcian told us, that they had done some test on people who have hearing related problems and found that they had DiGeorge Syndrome. It is my personal belief that there are many more people with this syndrome and just don't know it. I have had hearging problems from the time I was 2 years old and we know from genetic test that DiGeorge is present on my side of the family.
22Q11.2 Deletion Syndrome: 22a11.2 Deletion Syndrome is a deletion of chromosome22. The deletion occurs near the middle of the chormosome at q11.2.
I wanted to give out more information so people would have an idea of what DiGeorge Syndrome is about.
There is such a lack of information with in the Health Industry and so many parents who have children with DiGeorge Syndrome feel so alone and only want to have an Awareness so people will know and understand what their child is going through.

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