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.
We were honored to share a table with Glenn O'Neill of Eliza's Story and Jocelyn Duff of Cure CMT4J. Our dinner conversation became the subject of a blog about the future of gene therapy. If you could mass produce and distribute the determination of rare disease parents, you could solve all the world's problems. The love you have for your child is a very powerful thing and gives you strength you didn't even know you had. Thank you Ricki Lewis for bringing a voice to our stories. http://blogs.plos.org/dnascience/2016/12/01/parent-roundtable-before-and-after-gene-therapy/
Thanks to the folks at The Hill newspaper for running this story on U.S. Senators who have joined the cause to rename and raise awareness for Ellie's disease. We are so grateful! #TheEllieChallenge sweeping the halls of Congress! ...
A Cure for Ellie shared John Cornyn's video.
We are so grateful to U.S. Senator John Cornyn for taking #TheEllieChallenge and helping us spread awareness of Ellie's very rare brain and spinal cord disease. We cannot thank the Senator enough for this beautiful gesture - in helping us to rename (and with God's help), hopefully #cureLBSL.
- RT @HeardontheHill: .@ThomTillis took the Ellie Challenge and challenged other senators t.co/MvKPyni3vu cc: @Cure4Ellie
- RT @SenThomTillis: Please join me to raise awareness for Ellie and this awful degenerative brain disease. Go to t.co/5KK9MgY7C7 for…
- A BIG thanks to @SenThomTillis for taking #TheEllieChallenge & helping raise awareness. Truly grateful Senator! You… t.co/mPqL7q9w3h
- Thank you @JudyKurtz of @thehill for telling the story of how #TheEllieChallenge is moving through the US Senate! t.co/M0kCAN2NO1
- ...and we are so grateful to you @RepFredUpton and @RepDianaDeGette ! This will pave the way for my cure one day -… t.co/ONIx0geQZB
Follow @Cure4Ellie on twitter.
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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.