Friday, September 20, 2013

Open Heart Surgery


If I could ever advocate DNA testing to screen for health risks it would be now. The little man in this picture is our newborn grandson. He was born with a Congenital Heart Defect known as Tetraology of Fallot with Absent Pulmonary Valve. What that means is that he was born without a valve that carries oxygen from his heart to his lungs. Skylar will be having his first Open Heart Surgery early next week. His Geneticist ran a DNA test that showed he has a genetic condition called DiGeorge Syndrome, also known as 22q11 deletion. Skylar is missing some of the genes that appear on chromosome 22. We are going to be meeting the geneticist tomorrow and sharing our 23andMe DNA health results with him in order to find out if we could have passed this condition to our son who in turn gave it to his baby boy Skylar. I will be posting frequent updates on Skylars progress here on my blog in the coming days. I felt the need to share this with my readers in hopes that this might help someone who is also related to me or my husband. It is so worth it to get this testing done.

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