Kami Patrick felt like she wasn’t being listened to before she came to Cincinnati Children’s. Her 3-year-old son, Everett, has CHARGE syndrome. CHARGE is a complex, genetic disorder that differs from child to child, but most have hearing loss, vision loss, heart defects, and balance, breathing and swallowing difficulties, all of which delay development and impact communication.
Only one in 10,000 kids is diagnosed with CHARGE, so parents often shuffle among hospitals, seeing specialists who have never treated a child with the syndrome. That leaves parents with the responsibility of doing the research and directing the coordination of their child’s care.
The CHARGE Center at Cincinnati Children’s is relieving many parents, like Kami, of that burden.
The center brings together a team that involves Aerodigestive, Otolaryngology, Pulmonary, Audiology, Gastroenterology, Ophthalmology, Genetics, Cardiology, Developmental and Plastic Surgery specialists. Each discipline explores and evaluates its area of specialty and then, as a team, develops a plan of care with the family. For Everett, that means less anesthesia, less stress, and a plan that considers the impact of an intervention and prioritizes what should come first.
“All of the little pieces of the puzzle clicked into place during our first visit here,” Kami said. “We got so much new information. We now have a plan that wasn’t all my idea and driven by me. We have people that want to listen.”
It’s also opened up the possible for Everett to have quality of life.
“We were told ‘no’ in situations where there is nothing to lose from trying,” said Kami. “Here, the doctors are willing to learn more, willing to go farther, willing to listen and willing to experiment. With these kids, you have to.”
Everett got his tonsils removed along with a procedure to reduce excessive secretions from his saliva glands. He’s now breathing better, feeding better, and the family hopes to tackle his cleft palate surgery in the months ahead with the Cincinnati Children’s team at his side.
The CHARGE Center started in 2014 and is the only center of its kind. It came to be from listening to parents and has grown by word of mouth from parents on social media. Today, the center treats nearly 70 patients annually, and the reach is getting further and further with inquiries from Texas, Russia and Brazil.
“Parents have expressed a sincere appreciation for the CHARGE Center. Finding a place that can address the multiple and complex concerns specific to CHARGE syndrome is priceless to them. Our team approach is more than receiving answers, it’s like being with family they trust. We understand them,” said Lucy Marcheschi, RN, nurse coordinator, who serves as the main point of contact for families before they arrive and while at the hospital.