BALTIMORE (WJZ) — An 11-year-old girl with a rare brain disorder on the search for a cure has found help and hope in Baltimore.
International Rare Disease Day is Saturday, and to raise awareness about Ellie McGinn’s life-threatening rare disease, the nonprofit organization “A Cure For Ellie” donated a check for $450,000 to the Kennedy Krieger Institute.
The 11-year-old from Arlington, Virginia, was diagnosed with a rare genetic disorder known as leukoencephalopathy or LBSL.
“Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation,” McGinn recites.
She prefers to call it, “awesome disease,” though.
“I just thought it would make kids with LBSL feel good,” she said.
LBSL is a progressive condition that impacts the brain and spinal cord. It most often develops in children and affects their ability to walk, stand and coordinate motor skills.
Currently, there’s no cure for the disease.
“It all began when Ellie was about 3 years old,” Ellie’s mom Beth recalled. “She wasn’t doing the things her peers were doing at the same rate or ability, so we started to look for answers.”
After months in the dark, the McGinns finally found help and hope at the Kennedy Krieger Institute.
“It was just like, ‘I can breathe again,'” Beth said.
Dr. Ali Fatemi and researchers at the hospital are working hard every day to find a cure for LBSL, but funding can often run short.
“The biggest problem with the disease is the fact that so few patients out there, which makes it very difficult to do actual clinical trials,” Fatemi said.
The disease is so rare that Ellie is one of only 100 people worldwide to be diagnosed with it.
“We never really believed there wouldn’t be a cure,” Beth said. “Since day one, since the day we got the diagnosis, we took an attitude of, ‘Okay, this is not the end.'”
On Friday, The McGinns presented their check, bringing the total amount raised so far to $1.6 million.
The family is grateful for the Institute’s work in allowing Ellie to live as normal a life as possible.
“We were told that she would need a walker by around age 5 or 6 and then by (her) teenage years would need even more assistance walking, and she’s just beaten all the odds,” Beth said.
Today, they know the fight continues.
“This is just the beginning,” Beth said. “Let’s find answers, let’s work toward keeping Ellie strong.”