Sal DeSimone
As writen by Sal’s father:
Sal was born full term, through natural birth on September 2/3, 2005. The next day during a diaper change, the nurse noticed that his stomach was "dusky" and brought him to a Neonatologist who X-Rayed his chest and determined that he had a "boot shaped heart" which indicates Tetrology of Fallot. He was then transferred to Connecticut Children's Medical Center in Hartford. He was given a cardio catheter and a Blalock shunt and three weeks later we took him home with a nasogastric (NG) feeding tube. When Sal was 4 months old he had his second open heart surgery, having a pulmonary artery conduit put in. The conduit will not grow with his heart so it will need to be replaced periodically down the road. Sal has had a total of 6 cardio catheters done on him already and he will need more in the future. He will also need the hole in his heart (also known as a ventricular septal defect) closed.
This was all due to his primary diagnosis of Velocardiofacial syndrome (also known as DiGeorge syndrome), caused by a deletion of genetic material on chromosome 22. Broad spectrum developmental delays are associated with this genetic syndrome. Sal is currently two years old but does not walk yet, does not bear weight with his arms and does not crawl normally. Even though he doesn't have the strength or ability to do these things on his own yet, Sal is a good natured, determined little boy who tries really hard to get around in his own way even if that means scooting along the floor in a commando crawl. We are hoping to help him reach his full potential with intensive therapy so any help that can be provided would be much appreciated.
Thank You,
Sal DeSimone Sr.