About Mitochondrial Disease
Mitochondrial disease comes in many forms and affects many parts of the body. Every 30 minutes a child is born who will develop a mitochondrial disease by age 10. But very few doctors in the world know how to spot or treat it.
While mitochondrial disease was identified in the 1960’s, its role as an underlying cause of diseases such as autism, epilepsy and organ failure in children has only recently been explored by a handful of doctors who are making new strides every day.
Exact numbers of those affected are unknown because so many children are misdiagnosed or go undiagnosed, but mitochondrial disease is approaching the frequency of childhood cancers.
About Ellie’s Particular Disease – LBSL
LBSL is a degenerative brain and spinal cord mitochondrial disease. LBSL is a rare genetic disorder that 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 provides insulation – much like the plastic coating around the wires in your home. It is also essential for transmission of signals from the brain to the rest of the body. Almost all cells in the body have mitochondria, which are tiny “power plants” that produce 90 percent of the body’s essential energy. Mitochondrial disease means the power plants in Ellie’s cells do not function properly. When that happens, some functions in the body are not able to perform at adequate levels. Organs that require massive amounts of energy, such as the brain, are often the most affected. Unfortunately, like many Leukodystrophies – there is currently no cure for LBSL.
Finding a Cure
While there is no cure for LBSL, Ellie’s friends and family are not without hope. They plan to support research that, with God’s help, may one day lead to a breakthrough and eventually a cure for LBSL and other types of childhood Leukodystrophies.
Excited to be here at National Institutes of Health (NIH) for rare disease day - Learning about the future of medicine. Listening to Dr. Chris Austin. Full of hope. #rddnih #cureLBSL
A Cure for Ellie shared Fairlington5K's post.
Hey folks - Early bird registion ends soon - see link below to register. We hope to see you there:)
A Cure for Ellie added 2 new photos.
Yesterday I witnessed one of the kindest acts I have ever seen. Ellie's friend Halcy (pictured here with Ellie) donated her blood to help doctors at Kennedy Krieger find a cure for Ellie's disease. This is a hard thing for most adults even to do. And this eight-year old child bravely did this without any hesitation at all. We should all strive to be as courageous and commpasionate as sweet Halcy. (If you know her parents then you know where she gets it.) Before going to the hospital for the blood draw, the girls ate lunch in Baltimore's Little Italy at a place called Ammici's. "Amici," I later learned, means "friends" in Italian. Friends indeed. What a beautiful and selfless gesture - to want your friend to live a long and healthy life free of her disease. There really are no words.Kim Mathis
- We are so excited to be here. Thanks for including us @RareAdvocates #cure LBSL t.co/uhVud3Qq8q
- The H in NIH stands for "House of Hope" #RDDNIH honored to be here. @NIH
- RT @Fairlington5K: Thanks to the great folks at Fire Engine #7 here in Fairlington for once again donating to the Fairlington 5K... https:/…
- Thanks @FurGetMeNotLLC for donating to the @Fairlington5K Silent Auction! #CureLBSL t.co/e9uezZqsXK
- @Patriots maybe when the TX Rangers find that jersey, Mr. Brady can donate it to my April 21 auction?😉
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A Cure For Ellie is an organization dedicated to finding a cure and creating awareness for Mitochondrial Disease. The organization is named for Ellie McGinn, a 6-year old girl in Virginia who was diagnosed in September of 2011 with Leukodystrophy-LBSL – an extremely rare degenerative brain and spinal cord disease for which there is no cure and little understanding. Ellie’s family and friends launched ACureForEllie.org in September 2013 to raise funds, spread awareness, and provide some answers for families that encounter this terrible diagnosis. The funds raised will be distributed to other 501(c)(3) organizations dedicated to supporting “mito-kids” and their families, and to medical organizations such as Johns Hopkins University for continued research in this field.
To contribute and help the children affected by Mitochondrial Disease, please make a tax deductible donation at Kennedy Krieger or send a check made out to A Cure For Ellie – 4414 36th St. S. – Arlington, VA 22206.