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.
Thank you so much to Roll Call for your coverage of #TheEllieChallenge http://bit.ly/2dFivcN
When the disease's name is too difficult to pronounce, why not change it? #TheEllieChallenge http://bit.ly/2eKWLrW
- RT @HeardontheHill: Beth McGinn is raising awareness for her daughter's rare disease through @Cure4Ellie t.co/uaveMQMypK
- Ex-Hill Staffer Takes on Finding a Cure For Her Daughter t.co/Lgo7z0EXJv by @AlexGangitano via @rollcall #TheEllieChallenge
- When the disease's name is too difficult to pronounce, why not change it? #TheEllieChallenge t.co/P1s0micdKF
- As Ellie challenges you to help rename her disease, donate to help find a cure! #TheEllieChallenge t.co/0h3M4uyUA8
- RT @RareDR: 8-Year-Old Starts Campaign to Change Her Rare Disease's Name t.co/HEFt2ZIGZ3 #TheEllieChallenge t.co/bCX0xHwc9p
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.