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.

In 2016 Ellie asked her friends and followers 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, “Leukoencephalopathy with Brian Stem and Spinal Cord Involvement and Lactate Elevation.” Those who said it right were given the chance to rename it. After dozens of video submissions from across the globe, she picked a winner and announced the new name, “The Awesome Disease,” on World Rare Disease Day, February 28, 2017. In Ellie’s own words, she chose the name because she “wanted kids who are diagnosed to feel good about them self.” The campaign helped raise awareness, funds for research, and connected the LBSL community in new ways.

Finding a Cure

While there is no cure for LBSL, Ellie’s friends and family are not without hope. Funds donated to A Cure for Ellie go to support ongoing research at the prestigious Moser Center for Leukodystrophies at the Kennedy Krieger Institute and Johns Hopkins University in Baltimore. Launched in March 2016, the research focuses on development of pre-clinical models as a test-bed for assessment of therapeutics. The clinical arm focuses on developing remote quantitative patient assessment tools that will allow us to identify the most meaningful outcome measures to be tested in clinical trials. The overall goal is to reach the stage of clinical trial readiness for LBSL within a three to four-year period. The outcomes could lead to important new discoveries for other, more common diseases that involve the brain’s white matter.

 

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A Cure For Ellie is a non-profit organization dedicated to finding a cure and creating awareness for LBSL, also known as “The Awesome Disease.” LBSL stands for Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation, a very rare and progressive genetic disorder that affects the brain and spinal cord; most often developing in children, affecting their ability to walk, then even to stand and coordinate fine and gross motor skills. LBSL falls within the also rare Mitochondrial Disease family. The organization is named for Ellie McGinn, a young girl in Virginia who was diagnosed in September of 2011. 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 diagnosis. The funds raised will be distributed to organizations such as the Moser Center for Leukodystrophies at the Kennedy Krieger Institute for continued research in this field. To contribute and help the children affected by this condition, 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.