Ellie McGinn, left, with her parents and sister, Vivian Estelle.


 

By Eileen Houlihan, senior writer/editor ARTBA

Nine-year-old Ellie McGinn is fighting to find a cure for the rare, hard to pronounce brain and spinal cord disease she was diagnosed with in 2011, and she needs help. She and her parents, including mom Beth, who served as ARTBA director of public affairs from 2011-14, shared Ellie’s story May 30 with NBC’s TODAY show. Her family is hoping to not only increase awareness of Ellie’s particular disease, Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL), but to help support research to find a cure.

LBSL, a rare genetic disorder with only about 100 diagnosed cases worldwide, does not allow those afflicted with it to produce a protein essential for production of myelin, a critical substance for proper functioning of the brain and nervous system. Myelin is essential for transmission of signals from the brain to the rest of the body, according to Ellie’s website, www.acureforellie.org.

Last year Ellie asked her friends, and followers on social media, to help give the disease a new, more recognizable and upbeat name. Known on social media as #TheEllieChallenge, the campaign asked people to pronounce the long name of the disease, and those who said it right were given the chance to rename it. In February 2017, on World Rare Disease Day, Ellie picked the winner and announced a new name, “The Awesome Disease”.

ARTBA encourages its members to support Ellie and her family through donations via her website. Funds donated to A Cure for Elllie go to support ongoing research at the prestigious Moser Center for Leukodystrophies at the Kennedy Krieger Institute and at Johns Hopkins University in Baltimore.

For more on Ellie and her story, see the TODAY show link.