Discovering DiGeorge Syndrome

Before I talk about the discovering DiGeorge  Syndrome I want to tell you on how well, my son Luke never ceases  to amaze me. He has been sort of under the weather and his spirits are always so good. Only if we all could be like that. Keep the child in us.We went to the Chester fiddle fest. My father in law plays the guitar in it. There was a hay ride with the boy scouts telling the history of making maple syrup. Luke seemed to enjoy it even though he wasn't quite himself.
    But on a more serious note I would like to tell you about DiGeorge Syndrome or 22q11.2 Deletion Syndrome. When we had Luke we had never even heard of DiGeorge Syndrome. For the first three months Luke was not gaining any weight.What was happening was that his heart had three holes in it  [ 1 Large, 2 Small ] and not enough blood was being pumped, so his body was focusing on working the heart harder rather than growing .It was our primary doctor, that I must say was one of our best doctors, that led us to the cardiologist, which led us to the genetic councilor. She was the one who diagnosed him with 22q11.2 Syndrome, or DiGeorge. Discovering this was very emotional.
       What this syndrome is, a small piece of chromosome #22 is missing. Conditions of this syndrome can vary. The most common sign is the heart problems at birth {Luke holes} and also small distortions of the face[ Luke has a cleft ear]. A cleft pallet is also common in DiGeorge , leading to a nasally voice. He also had a third nipple which is not that pronounced. The problem with discovering DiGeorge Syndrome is that besides the heart problems and the small distorted facial features, most of the signs are sutler. Learning disabilities are definitely associated with this syndrome as is ADD . Luke definitely has this. It's not hat he's not smart, he just needs one on one. His attention span can be nill  in groups. There are other types of names they use beside DGgeorge, depending on the symptoms.The craziest part is that DiGeorge  / 22q11.2 deletion  is said to be non-heredity. But my sisters son has it. His signs of DiGeorge were sutler and was not discovered until he was older, with his learning disabilities, [ I think it's because he's lazy!! LOL]. I will definitely post more on this subject as it is an important part of our family's lives. Here is a link to a very informative site http://ghr.nlm.nih.gov/

                                                                                 

                  As for Luke, he went to Bostons Children's Hospital for open heart surgery to close the holes. Everything went absolutely great, a total success. As bad as the reason we were there, it was a wonderful humbling experience due to the professional, caring and any other good words, people at the Bostons Children Hospital. I will definitely write another post on my experience with them and express our gratitude. God bless them!  And if anybody has any Questions about discovering DiGeorge, please feel free to ask!