Jason’s story began with a seemingly innocent complaint, ear pain. Concerned for her son, Andrea
Salicia vividly remembers the moment she first suspected something was wrong with her son Jason. While feeding him, she noticed that he was twitching, and it didn’t appear to be normal newborn behavior. A few days later, in a terrifying incident, Jason began gasping for air during a feeding, followed by a more severe twitch. Panicked, Salicia rushed him to the Nemours Children’s Hospital, Florida emergency room.
It was there that a nurse informed her that Jason’s “twitches” were actually seizures, prompting further investigation. This nurse also thought that he might have a condition called DiGeorge syndrome but didn’t want to say anything until it was confirmed. The medical team then performed a spinal tap and various tests, which led to a diagnosis of 22q11.2 deletion syndrome, also known as 22q or DiGeorge syndrome, at just one week old.
22q11.2 deletion syndrome is a genetic condition that some babies are born with. A genetic condition happens when there is a problem with a part of a child’s DNA. 22q11.2 deletion syndrome can affect many different systems in the body. The problems it causes can range in severity.
“I have nothing but great things to say about that hospital,” says Salicia. “From day one when that nurse knew what was happening before any of the tests had been completed, I knew that Jason was in the right place, surrounded by knowledgeable people.” Salicia was impressed by the medical professionals at Nemours Children’s who were quick to understand Jason’s condition and provide the best possible care. Among those professionals, Dr. Brian Kellogg, a specialist in 22q deletion syndrome, stood out. He not only offered expertise, but also a sense of comfort and reassurance. Salicia has complete trust in Dr. Kellogg and his team.
“Jason presented to our 22q team for problems with nasal speech, which affects 80-90% of patients with 22q deletion syndrome,” says Dr. Kellogg. “I performed an operation called a pharyngeal flap, which borrows tissue from the back of the throat to block air from escaping out the nose during speech. With the help of Yeraldi, our 22q team speech pathologist, we were able to help Jason achieve normal speech, which can really help kids make friends and thrive in school.”
When asked to describe her son, Salicia says, “He’s a loving and kind-hearted child who is far from shy. He’s a social butterfly who enjoys playing and helping others, he’s always ready for a chat with anyone and can make people feel at ease.”
Over time, Salicia’s perspective on Jason’s diagnosis has shifted. She now approaches it with a positive outlook. She takes each day one at a time and tries not to focus on the negatives. While she acknowledges the challenges her son has faced, such as speech delays, she remains determined to support his growth and development in the future.
Salicia’s journey with Jason has grown more manageable as he’s gotten older, and she’s more at ease with the frequent appointments. Working with Dr. Kellogg, a true 22q deletion syndrome expert, has been a tremendous blessing. “People come from all over who have children with DiGeorge syndrome just to see Dr. Kellogg,” says Salicia. “I’m so fortunate that he is 15 minutes away from my house. I’m so much more at ease knowing I have him and Nemours on Jason’s team.”
