CHARGE Syndrome: Rhett's Story | Cincinnati Children's

http://www.cincinatichildrens.org/charge

Anna Martin, Rhett’s mom: “Rhett was born on Christmas Eve, and he was born about a month early. Before he was born, we knew there were some issues, we weren’t exactly sure what was going on.”

Rhett spent the next 6 weeks in the Newborn Intensive Care Unit, where he had a series of surgeries, and doctors gave the Martins a diagnosis of CHARGE syndrome.

Daniel Choo, MD, Director, Division of Otolaryngology: "CHARGE is one of these genetic syndromes that we’ve just recently become more familiar with. Just about every organ system you can think of gets affected by CHARGE.”


Cincinnati Children’s has the only CHARGE center in the nation, specialists in aerodigestive disorders, ophthalmology, audiology, genetics, plastic surgery, and developmental pediatrics.

Anna Martin: "“CHARGE syndrome is so overwhelming, because there is so many things that come along with it, so we were just really overwhelmed. We had no idea, what the future was gonna hold.”

Rhett had a tracheotomy and a feeding tube. He also had inner ear abnormalities that affected his ability to hear. As they continued to care for Rhett, the Martins, who live in North Carolina, tried to learn all they could about CHARGE.

Anna Martin: "“That’s when I started joining some Facebook pages, and I saw a lot of other parents with children with CHARGE syndrome come here for, you know, second opinions and evaluations, and so I called Lucy."

Lucy Marcheschi, Nurse Coordinator for the CHARGE Center: "
“I think the common denominator with parent calls is the feeling that they’ve gotten everything they can get from where they are now.”

Dr Choo: “Perhaps one of the first things out of their mouths is it’s so comforting to talk to a physician or somebody who knows about CHARGE.”

Our team guides families through the process of meeting with all specialists in one visit. By putting the child in the center, and communicating with each other about next steps, we are able to provide comprehensive care for children with CHARGE . We are also able to perform procedures that other providers may lack experience with, such as cochlear implants.

Dr Choo: "For some of our patients who have come through like Rhett, that’s actually one of the scenarios we encountered, and we were able to get an implant in, and the ability to give him some ability to hear not only enhances his communication, but really opens the door for his potential down the road in life.”

Rhett is now 3. He’s walking and engaged with learning, and the Martins are hopeful about the future.

Anna Martin: "We’re going to send him to school and I expect that he will be in a typical classroom with typical peers. I can’t praise the team here enough for what they’ve done for Rhett and for our family, and I just know that he wouldn’t be as far along in his care. I know that he wouldn’t have a cochlear implant if we hadn’t come here.”

Lucy Marcheschi : "There’s really a team spirit on what can we do to get these kids to a better place.”

Dr Choo: "You guys are off"

Anna Martin: "Thank you"