Brothers Receive Rare Diagnosis After Parents Advocate For Testing
By Chelsea Lacey-Mabe
CHELTENHAM (CBS) -- It's a big weekend for Kelly and Ryan Sexton. On Saturday the family is hosting a beef and beer benefit to raise awareness for MED13L-- a rare syndrome their sons Dylan and Logan were recently diagnosed with.
Dylan, 7 and Logan who will turn five on the day of the event were delayed in most of their developmental milestones and are non-verbal to this day. Even though the boys received a diagnosis in March, the Sextons have little to go off of since their boys' diagnosis is so rare.
What they do know is that MED13L is characterized by Intellectual disability, speech and language impairment and motor developmental delays with muscular hypotonia. It's also on the autism spectrum but Kelly says there aren't a lot of similarities other than the non-verbal aspect.
"They don't know life expectancy… they don't know how they'll progress," explained Kelly's brother-in law, Dave Sokorai. "Kelly works at Penn and if it wasn't for her working in the medical field and being such a bulldog and so aggressive with their treatment and their care they would have never gotten this diagnosis."
Dylan was born with a congenital diaphragmatic hernia. When Kelly was pregnant with Logan a few years later, he had to be monitored in utero for a neck mass known as cystic teratoma. To doctors those conditions seemed unrelated but Kelly and Ryan believed there had to be a connection.
Since the boys were being treated at CHOP, Kelly and Ryan got involved with their genetics department. They received an official diagnosis after more than three years of research and testing. At first the couple was told MED13L was related only to the X chromosome. They've been told otherwise since giving birth to a baby girl, Maggie, six weeks ago. She too will be tested in the next few months.
"As a parent you often hear about other medical issues associated with a diagnosis," noted Kelly. "That was one of the big reasons we wanted to find out what it was. Right now what's been associated with [MED13L] is cardiology issues and seizures."
The journey to diagnosis was a long one, requiring Kelly and Ryan to miss work in order to get their children to CHOP from their home in Barrington, New Jersey. And for a while Kelly's coworkers at University of Penn and Ryan's fellow officers in the Pennsauken police department were not even aware of their situation.
"Part of the benefit is spreading awareness just in our circle," said Kelly. "Letting people know what's going on here and what we're going to need for these kids."
Ultimately the parents are trying to spread awareness for MED13L globally. Since little research is published and ongoing studies are kept under lock and key, there is a lot of disconnect about the syndrome across the medical community. They're looking to change that and hoping to share their story with "The Doctors" who they say have expressed interest in featuring Dylan and Logan next season. So far social media has helped the Sextons connect with other families facing similar diagnoses.
"They're sweet little kids they just act out a lot of time we think out of frustration," said Dave. "It's a lot on Kelly and Ryan."
As they get older safety will become even more crucial for Dylan and Logan to understand because as of now they can't comprehend danger. The pair are already able to let each other out of their car seats--sometimes when Kelly is driving.
"It's going to be a little bit challenging on our end managing the two of them and caring for them," said Kelly. "But it's such a comforting thing to know that they have each other. And through all of this we are very blessed because even though we have our daily challenges, they're not in pain."
Saturday's event held at Holy Armenian Church on Ashmead Road in Cheltenham will help raise money for necessities like specialized locking car seats not yet covered by the family's insurance company, as they too, try to make sense of the diagnosis.