When the disease's name is too difficult to pronounce, why not change it?
The long and complicated name has been a great source of frustration for her and her family, as it inhibits their ability to raise awareness and money.
As if raising the estimated $3.3 to $3.8 million needed to fund critical research at the Kennedy Krieger Institute weren't difficult enough, doing it with a complicated disease name is even harder. With all of that money coming from private sources, the family has to be enthusiastic and the fundraising methods creative.
As it turns out, McGinn is a very creative little girl. The McGinn family’s A Cure for Ellie Foundation officially launched The Ellie Challenge, part of an unprecedented campaign to raise funds and awareness, as well as rename, the tongue twister that is the disease from which McGinn suffers.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, or LBSL, is a uniquely rare and fatal progressive brain degenerative disorder. Fewer than 100 cases are known, and there is no cure.
McGinn, who was diagnosed with the disease in 2011, poignantly describes her situation in a video released along with the campaign.
"You know what's more frustrating than having a rare disease?" she says in the video. "Not being able to pronounce it."
McGinn then holds up a trifold poster board sign with the name of the disease.
"Try to pronounce the name of my disease exactly right on camera," she says. "If you get it right, you'll get a chance to rename my disease. And, please, I ask that you donate to our website and challenge three of your friends to do the same."
Dr. Ali Fatemi, who is conducting a considerable amount of research into McGinn's mitochondrial dysfunction, is thrilled to be working with the family.
"This is the most enthusiastic family ... that I've ever worked with," Fatemi said.
Fatemi is a pediatric neurologist and the director of the Division of Neurogenetics and the Moser Center for Leukodystrophies, as well as an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger Institute. In addition, he is an associate professor of neurology and pediatrics at Johns Hopkins University.
Fatemi went on to express optimism that research into LBSL ultimately will find application, not just for those patients who suffer from this rare disease but also with a broader patient base suffering other diseases.
"This is something that could find other application in the future," he said. "In conditions such as Parkinson's or multiple sclerosis and other more common diseases."
Patients with LBSL lose their ability to walk, then stand, and finally to coordinate all fine motor skills.
"It’s an awful disease with an awful name," McGinn’s mother said. "It was hard enough to try and explain the disease to our daughter, let alone even pronounce it. Upon hearing the news of Ellie’s diagnosis one of our friends said 'first and foremost, let’s find a cure, but in the meantime, let’s also change the damn name of this horrible disease.' It’s now Ellie’s wish and that’s exactly what we are going to."
LBSL was discovered by Dutch researchers in 2007.
"Since then, progress has not been good," Fatemi said. "We don't yet have a model system where we can test therapies."
The McGinn family has been very active in helping to raise research funds and awareness. They've also received support from various orphan disease groups, including the Rare Disease Foundation, which published a detailed feature about Ellie McGinn earlier this month.
Funds raised through The Ellie Challenge will go toward research at the Kennedy Krieger Institute in Baltimore, which is working to find a cure for the disease.
In addition to The Ellie Challenge website, a Facebook page and Twitter hashtag, #TheEllieChallenge, allow folks to follow along with the campaign.
Organizations in this story
U.S. Department of Health and Human Services (HHS) 200 Independence Avenue Southwest Washington, DC - 20201