Child helps Johns Hopkins students learn about genetic disorder
Treatment of girl with LBSL could be key to helping future patients
First-year medical students at Johns Hopkins are learning about a rare genetic disorder.
They are getting their information from books, research, labs and a child.
The child is 7-year-old Ellie McGinn. She and her father have valuable information to pass along because few know about Ellie's disorder.
"It's called leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate," said Michael McGinn, Ellie's father.
Usually called LBSL, it is a progressive disorder that affects the brain and spinal cord.
"I was falling down and my feet were hurting," Ellie said.
Ellie was diagnosed around 2 years old. At the time, the news was grim. There's no cure, no treatment and doctors said it can be fatal. It wasn't until the McGinns came to Johns Hopkins and the Kennedy Krieger Institute that Ellie's health started improve and the family had hope.
"This can be turned around, this can be managed and there will be therapies that can help their child," Michael McGinn said.
"My medicines are now helping me to get stronger," Ellie said.
The medical students want to learn more from Ellie on everything from what she eats to her movement and balance issues.
"We can learn a lot about more common conditions from rare conditions so learning how to manage and treat children like Ellie, will also help us treat kids with all kinds of conditions," said Dr. Hillary Vernon from Kennedy Krieger Institute.
Medical staff also believe Ellie could help future doctors diagnose rare disorders and maybe even cure such disorders in the future.