We are asking for the community to come together to support our son Joey. He has CHARGE Syndrome, and we have to take many trips to CHOP. He is also hospitalized quite often. There will be bands, food, drinks, and baskets to raffle off! I really hope you all can make it! I think it's going to be an amazing time!!! To read more about CHARGE Syndrome and Joey, please continue....
CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. CHARGE syndrome is much more rare than Downs Syndrome, which is only 1 in every 500 births. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family. Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years. 1 in 6 don't survive to 5 years old. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.
Joey spent 75 days in the NICU at CHOP. Joey's defects are that his esophagus was not attached to his stomach (esophageal atresia) and he had a connection from his stomach to his lungs (tracheoesophageal fistula). Surgeons were able to repair his esophagus, the day he was born. He has 2 mild heart defects that do not require surgery (thank God). Joey is profoundly Deaf with no hearing at all. Hearing aids do nothing for him and he's not a candidate for a cochlear implant because his Cochleas are malformed and he doesn't have auditory nerves. Joey does not have a vestibular system, which means he has no balance at all. Joey also has choanal atresia, which means he can only breathe through one nostril. His other nostril is completely blocked with bone/tissue. Joey has swallowing difficulty so he can't drink liquids without them going directly into his lungs. Everything that Joey drinks must be as thickened to a honey consistency. He also can't eat solid foods, without choking. He can only safely eat purees. Joey had to have surgery to put a g-tube in his belly and also he had to have a fundoplication nissen. A "fundo" is where they took his esophagus and wrapped it around his stomach to stop the severe and dangerous reflux that he had. Because of this, Joey cannot burp, and will not vomit unless under extreme circumstances. In November, Joey had to have an emergency shunt placed in his brain because he was suffering from severe and sudden onset hydrocephalus. It is a permanent drain that allows excess fluid to drain out of his head.
Joey sees 10 different specialists at CHOP and a feeding team at Danville. He has Physical therapy (3 times a week), Occupational therapy (once a week), Feeding therapy (3 times a week), and Deaf therapy (once a week).
We would love to have an evaluation of Joey's inner ears done at MEEI in Boston. He may be able to get an Auditory Brainstem Implant which would allow Joey to hear. We also would like Joey to attend Scranton School for the Deaf. We are all trying to learn sign language fluently to communicate with Joey.
Despite Joey's many complications, he's considered to have only mild CHARGE Syndrome. Most kids with CHARGE are Deaf and Blind and many have very complex heart defects that require open heart surgery. Joey is one of the happiest kids you'd ever meet. He LOVES to play ball and go for walks in his gait trainer. I was told that Joey would probably never crawl, but he started to crawl 2 weeks after having brain surgery. Joey is learning to walk with the help of his gait trainer. We hope that someday, he won't need it.