Mar. 15, 2017
Posted by Amanda DeBellis
Rare Impact Award
At only 9 years old, Ellie McGinn is driving research for a rare and fatal disease, has educated nearly 1,000 future doctors, successfully advocated for the 21st Century Cures Act, and is helping other sick children across the globe find comfort through personal connections.
A bubbly child with an enthusiastic spirit and infectious smile, it is easy to forget she is not living a normal life.
At the age of three, after a worrisome period of time when Ellie began losing her balance and complaining of pain in her feet, she was diagnosed with a rare genetic disorder known as Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL). The disease slowly robs children of their ability to walk, then stand, and finally to coordinate all fine motor skills. The prognosis shocked Ellie’s family when her doctor explained that there was nothing they could possibly do for their little girl.
The family, however, did not give up hope and decided to scour the globe for answers. Their journey eventually led them to mitochondrial disease experts who, after carefully studying Ellie, re-categorized her disease as falling within the family of mitochondrial disorders. As her symptoms became better managed, the McGinns began taking control of LBSL by getting involved with advocacy efforts in their state, establishing Mitochondrial Awareness Week in Virginia, and educating medical students about LBSL and mitochondrial diseases during a special forum for students at Johns Hopkins University.
To help make an impact for all children with LBSL, they started a Facebook page, a Cure for Ellie, which quickly formed into a foundation. Through social media and grassroots fundraising, they have raised hundreds of thousands of dollars to fund nano-therapy research at the Kennedy Krieger Institute in Baltimore that many hope will lead to a cure for her condition. The outcomes could also lead to important new discoveries for other, more common diseases that involve the brain’s white matter.
As Ellie has grown, she has stepped into the role of LBSL spokesperson by visiting Capitol Hill to lobby for increased rare disease research funding, appearing on TV to raise money for research, and by being a pen-pal for newly-diagnosed children so that they know they are not alone.
Through their website and their foundation, Ellie and her parents, Beth and Mike, have made her story about the other children across the globe who suffer from the same disease – and beyond that to the other 30 million people who suffer from the 7,000 rare diseases that exist.
Ellie’s family describes her as “nature’s own anti-depressant to friends and family.” Her mom hopes that something good will come out of their efforts and believes that “Ellie was meant to help make an impact in this world.” Ellie says, “I have a hope that everyone with my disease has a cure.”
NORD is honored to present Ellie McGinn with a 2017 Rare Impact Award.