BALTIMORE — A local hospital is getting recognition worldwide for its leading research in a rare disease called Kabuki Syndrome.
Kabuki Syndrome is one of more than 50 rare diseases. The Kennedy Krieger Institute in Baltimore treats that disease in pediatric patients, and Monday one of their patients and doctors made their debut on ABC’s The Good Doctor educating the world about this disease.
Kabuki syndrome is a rare genetic disorder that affects around one in every 32,000 people. Dr. Harris who’s a pediatric neurologist at Kennedy Krieger said the rare condition persist in a small number of people.
“It's characterized by distinctive facial features, growth abnormalities, and some measure of intellectual disability or cognitive delays. And it can be associated with a host of other issues, including heart problems, kidney problems, immune system problems, and a number of other things,” Dr. Harris said.
20-year-old Mathew Horner who’s also Harris’s patient is one of the people living with Kabuiki Syndrome.
“Well, I was not diagnosed, officially until I was about 14. So back in 2015. I think we went to doctors for about two years before they finally diagnosed me,” Horner said.
Horner said for a long time he and his family knew something was different about him but because the disease is so rare it was hard to diagnose. Dr. Harris said the first case of Kabuki Syndrome was reported in Japan sometime in the 1950’s, it’s also where the name came from. Fast forward to the 21st century now this rare disease is getting a national spotlight along with Mathew and Dr. Harris by being featured in ABC’s The Good Doctor.
“So my brother is a writer for the show, which is how that happened,” Dr. Harris said.
Harris said she suggested he create an episode highlighting the rare disease and a patient who lives with it. He agreed and that’s when she worked as a consultant to help him write the episode which educates people about Kabuki Syndrome.
“So then I started helping him to write the episode, make sure it was accurate and then eventually got the patient advocacy groups involved,” Dr. Harris said.
Kabuki Syndrome Foundation and All Things Kabuki helped to make sure the representation was accurate, then they put out a national casting call to find an actor with Kabuki Syndrome and that’s where Mathew came in.
“I've been acting ever since I've been in elementary school. So how we found out about the role was my mom found it on Facebook. They were calling out for like actors with Kabuki syndrome, and I'm like, I would be perfect for this,” Horner said.
After a series of auditions he was chosen to play the character with Kabuki syndrome on ABC’s the Good Doctor. Now Horner wants to share his story with the world letting everyone know that even with a rare disease people can still accomplish their dreams.
“Well, I think that even if you do have Kabuki syndrome, you still do have a personality, and you still are able to go out there and achieve those goals that you want to in life. I think that this episode, and what everyone is doing with the episode is going to help Kabuki patients be able to get out there, and hopefully we can spread the word about Kabuki and be able to make a difference in the world,” Horner said.
