A Disease Called ‘Awesome’
Ellie McGinn's condition is rare, and it's a mouthful. So she's given it a new name.
Beth and Mike McGinn’s daughter, Ellie, had just mastered walking in late 2010 when they noticed something was amiss. Their 3-year-old would take a few steps, then her knees would buckle and she’d fall down. She complained that her feet hurt and she seemed tired all the time. Pretty soon, she couldn’t keep up with her friends on the playground.
“She couldn’t go on the balance beam at a Gymboree party,” Beth recalls. “That’s when my heart began to sink. I left the party crying, because I knew something wasn’t right.”
The McGinns took their daughter to one specialist after another. Nothing was wrong, doctors assured the Fairlington couple—Ellie was just a “loosey-goosey” kid. One physician suggested they buy child-size orthotics. They tested Ellie for lupus and lead poisoning. They ordered up multiple MRIs to screen for cancer and other diseases.
Finally, after six months, the McGinns received a diagnosis from Children’s National Health System in the District: Ellie had “leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation” (LBSL), one of a cluster of metabolic diseases called leukodystrophies. LBSL interferes with the function of mitochondria—the energy producers in cells—and damages the white matter in the central nervous system. First identified in 2007, the genetic condition is so rare that only about 100 cases of it have been reported worldwide.
The family was told that Ellie would need a walker by age 8 and would be in a wheelchair by the time she was a teenager. There is no established treatment and no cure for LBSL.
Devastated, the McGinns refused to accept that there was nothing they could do. Relatives put them in touch with Baltimore’s Kennedy Krieger Institute, a Johns Hopkins affiliate that treats children with brain disorders, where specialists devised an experimental “cocktail” of vitamins and antioxidants for Ellie to take every day. Within a few months, her energy and appetite picked up, and she stopped falling.
Today Ellie has no trouble walking, but “if I’m running for a long time, sometimes my legs hurt, and all I want to do is lie down,” says the third-grader. “My hand gets very tired when I write, so I have to take breaks.”
She and her parents—Mike is a consultant at Booz Allen Hamilton and Beth works for a nonprofit—remain determined to find a cure for LBSL, and the community has rallied around them. Joe Reed, their neighbor and Ellie’s P.E. teacher at Abingdon Elementary School, was so moved by their situation that he organized a race and a silent auction through the Fairlington Civic Association to raise money for a cure.
Now in its fifth year, the annual Fairlington 5K Run & Walk attracts hundreds of participants from Virginia, Maryland and D.C. Between that and the auction, which is also an annual event, the McGinns have raised more than $300,000 to date for LBSL research.
“When you see a family where [the mom] is like, ‘We have to raise a million dollars to save my daughter’s life,’ I can’t imagine being in that position,” Reed says. “Last year, Beth and I spoke at the race and people were literally taking money out of their pockets and giving it to us.”
Rare genetic disorders—especially those that are hard to pronounce—often don’t get the same attention that other diseases do. So in 2016, the McGinns launched the “Ellie Challenge” on social media, inviting supporters to submit a new name for LBSL that was easier to remember. Out of the dozens of entries, Ellie selected “Awesome Disease,” a suggestion from one of her classmates.
“I chose it because I wanted people [with LBSL] to feel better about themselves,” Ellie says. “All the others were ‘Princess Disease’ or ‘Ellie Disease,’ and I thought that would make the boys with Awesome Disease kind of angry.”
As her 10th birthday approaches, Ellie is poised beyond her years. She has appeared on the Today show and locally on WJLA Channel 7, and she was invited to talk to medical students at Johns Hopkins about living with LBSL. It’s a strange kind of celebrity, but she insists that “I feel normal most of the time, and I don’t think about it.”
In P.E. class, the slender, blue-eyed girl with shoulder-length blond hair is all arms and legs, with a sweet smile as she races around on a scooter, scrabbling to swish a hockey puck past her classmates and into the net. Outside school, she rides horses and swims. She and her younger sister, Vivian, are lobbying their parents to get a dog.
You’d half expect to see her on a soccer field or clambering up a rock-climbing wall, but those kinds of activities remain off limits. She wears a helmet in gym class to protect her head from concussions if she falls. Her hand still trembles as she writes.
And yet she isn’t as debilitated as doctors once predicted. Ali Fatemi, a pediatric neurologist and director of the Moser Center for Leukodystrophies at Kennedy Krieger, who has overseen Ellie’s treatment since 2016, is optimistic about the future.
“I can’t think of anyone being a better representative than her,” he says. “It is very reasonable to think we’ll have a therapy to treat this disorder within five to 10 years.”
Lisa Lednicer also wrote about immigrant restaurant workers and all-season gardening in this issue. The 2018 Fairlington 5K Run & Walk takes place on April 28.