The Mosca family (from l-r): Abigail, 9; Gianna, 11; Jack, Jennifer, and Kayla, 7.

"Hi! My name is Kayla..."

Seven-year-old Kayla Mosca has her own business card. Next to her smiling face is a short introduction: “Hi! My name is Kayla. I am one adorable girl who happens to have Rett Syndrome – a rare neurological disorder that affects everything I try to do. I cannot talk, use my hands or move around very well, but I can hear you. I am smart and understand you!”

Jack and Jennifer Mosca, Kayla’s parents, noticed around her first birthday that something in Kayla’s development was unusual. “She didn’t pull herself to standing, and never crawled,” Jennifer says. Just before she turned two, physicians at Rady Children’s diagnosed Kayla with Rett Syndrome, a rare neurological disorder that affects mostly girls.

The Mosca Family set out to learn all they could about the disorder. They saw multiple specialists, enrolled Kayla in physical, occupational, and speech therapy, and networked with families and physicians through RettSyndrome.org, an organization dedicated to empowering families and advancing research to find treatments and a cure for Rett. At 2 ½ years of age, they enrolled Kayla in the Rett Syndrome Natural History Study, a research study that gathers data about individuals of all ages with Rett syndrome. Through the Natural History Study they were introduced to the work of physician-researcher Jeffrey Neul, MD, PhD, who was conducting Rett-specific research in Houston, Texas.

“We were so hopeful to know that there were experts like Dr. Neul out there studying girls like Kayla,” says Jack. “But we were even more excited when he was recruited to Rady Children’s. He is one of the foremost experts in Rett and he does it all – see patients, conducts research, and has support from the biotech and genomics community. On top of it all, he’s right here in our backyard. His arrival in San Diego was a huge game changer.”

One of the research studies underway in Dr. Neul’s lab is investigating potential ways to mitigate some of Rett syndrome’s symptoms including repetitive hand stereotypes, movement problems, breathing irregularities and cardiac function. Kayla is enrolled in a clinical trial of a novel pharmaceutical agent to try to improve her condition.  “Kayla may know exactly what she wants to do, but her brain is unable to send that message to her body,” says Jennifer.

“We support Dr. Neul’s research not only for Kayla, but because even a small improvement can bring a lot of hope to a family,” Jack says. “Hope is important—because we’re in this for the long haul. Having a child with Rett can feel a lot like running a marathon uphill, but the research that is going on right here in San Diego is starting to make the path feel a lot less steep.”

Kayla is like many seven year old girls—she loves music, Disney princesses, going to the beach, attends first grade and has many friends. 

“We don’t want Rett to define who she is,” Jennifer says, “and now with the potential of a drug coming to market that may help manage some of her symptoms, and maybe make her life a little easier, we have been given an enormous amount of hope.”