Courtesy Beth McGinn(ARLINGTON, Va.) — One Virginia family hopes to bring attention to a rare disease that may cause paralysis or even death for their 9-year-old daughter.
Ellie McGinn suffers from a rare genetic disorder that affects both her brain and spinal cord. Her mother, Beth McGinn, of Arlington, Virginia, realized something was wrong with her daughter when she was a toddler.
“I started to notice her balance wasn’t really good. I brought it up with the pediatrician,” McGinn told ABC News. “At age 3 she would complain about pain in her feet…that’s when I started to kind of panic.”
After seeing a series of specialists, Ellie was given a diagnosis of Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). The rare genetic disorder affects the brain and spinal cord and is caused by a genetic mutation. As a result, it can lead to abnormalities of white matter in the brain and high levels of a substance called lactate. Symptoms include difficulty moving arms or legs, epilepsy, speech problems and in severe cases, early death. Many children with the disease end up being wheelchair bound by their teens. There is no cure for the disease.
Ellie’s symptoms include a tremor and weakness in her leg. She wears a helmet to school to prevent seizures, according to her mother.
“She’s a very sweet soul,” McGinn said. “She wants to be a veterinarian…she’s the joy of our life.”
Determined to find a better way to fight the disease, the McGinn family started the “Cure for Ellie” charity organization in 2013 to raise awareness and money for the mitochondrial disease. They started the organization after Ellie started to improve after treatments at the Kennedy Krieger Institute in Baltimore, Maryland.
“I thought, let’s raise money until a cure comes along and then we became a place for people to go after [a diagnosis],” said McGinn. “That’s actually been one of the greatest things.”
The McGinn family is planning a new initiative to bring attention to Ellie’s disease by “renaming” the disease to something more manageable “like ALS is Lou Gehrig’s disease,” McGinn explained. To come up with a new name, the McGinns started the “Ellie Challenge,” where over a period of weeks, anyone could submit a new name for the disease as long as they managed to correctly pronounce “Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.”
After getting dozens of submissions, Ellie and her sister picked their favorite: “awesome disease.” The name won’t officially replace the current one, but McGinn hopes it can become a popular alternative.
“We’re going to put it on our website and I know our doctors said they would use it and the other patients who participated are on board,” McGinn said.
Ellie’s condition is so rare that just about 100 people are known to have the disease, according to one of her physicians, Dr. Ali Fatemi, director for the Division of Neurogenetics and Moser Center for Leukodystrophies, at the Kennedy Krieger Institute.
“I would think it’s probably around 1 in 200,000” people who develop the disease, Fatemi told ABC News. He clarified that some patients likely have milder versions that aren’t diagnosed or are misdiagnosed as multiple sclerosis. “I’d say that’s a very rough guess.”
Fatemi said it is a struggle to bring attention to confusing and rare diseases like LBSL.
“The name is difficult,” he explained. “LBSL…most doctors have no clue, they’ve never heard of it.”
Some of the funds raised by the Cure for Ellie organization have gone to Fatemi and the Kennedy Krieger Institute.
McGinn said she hopes the name change spurs people to learn about the disease.
“We’re trying to create a sense of community,” McGinn said. “We realized it’s not just about her.”
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