An Evansville boy is headed to Washington D.C. in June to have surgery to repair a rare, life-threatening skull defect. His condition is so rare, his mom says she only knows of five other children in the U.S. who have it.
John McQuay has an encephalocele. It's a sac-like protrusion of the brain through a hole in the skull. It's likely caused by the failure of the neural tube to close during fetal development. Most children who have one, have it in the back of their heads. But John's is in the front, and with it comes a whole new set of worries for mom and dad.
John says, "Papaw showed me that this is a tinder, and it's made for carrying the engine's coal."
He may only be 5 years old, but John knows a lot about trains. He also knows a lot about a very rare condition that affects his head. "A bone right here."
John was born with a midline cleft lip he had repaired at 3 months old. At the time, a CT scan ruled out any brain abnormalities, so mom and dad thought the worst was behind them. But by his fourth birthday, John had developed an unnatural thirst.
Sarah McQuay, John's mom, recalls, "He would drink so much, he would never eat. He stopped growing, and it had become a big concern of ours."
An endocrinologist diagnosed him with Human Growth Deficiency and Diabetes Insipidus. The good news was both conditions could be treated with medication. The bad news was what was causing them is something called an encephalocele that impaired his pituitary gland.
"Basically, they said that the bone that my son's brain sits on never formed, so his brain sits on his palate and fills his sinus cavities," explains Sarah.
So, he could get deadly meningitis from a simple sinus infection. "He can't have anything go up his nose. The best case scenario is not even his finger is what we were told."
To fix it, a neurosurgeon will go under his palate and insert a synthetic bone hammock to raise his brain out of his sinuses. It's a complicated and risky surgery, but John isn't scared. "Other people have bones connecting, but God didn't put that bone there, so I have to go to Washington D.C. so Dr. Bruce can fix it."
John's dad is an Evansville police officer. His mom is a social worker. They're asking for help to pay for transportation and hotel expenses in D.C.
The surgery is scheduled for June, and the family expects to be there 15 to 20 days.