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.
A Cure for Ellie added 6 new photos.
Got back late last night, so finally posting:) Great meeting yesterday with the research team and little Kaic (3 yrs-old with LBSL) who flew in from Brazil to meet Ellie. He is precious. Ellie really enjoyed meeting him. Good news - the mice successfully bred into the next generation (10 mice) and they are testing their DNA as we speak to see if they have the correct model for moving forward. We should know very soon. They showed us the laboratory and explained exactly how they do this work. Truly fascinating. We are so grateful that Dr. Fatemi has taken up our cause. If you told us two years ago we would have people in lab coats using multi-million dollar equipment in one of the world's premier laboratories trying to ultimately fix LBSL - I might not have believed it. Before our tour, Dr. Fatemi sat us down and explained that at this stage no private group or government entity is going to take a chance proving a drug's effectiveness on mice for a rare disease like Ellie's. It's up to the families and friends to "build the ship" and then we can hopefully keep it sailing by applying for grants and such. We aren't done building yet - but you have helped us get the frame together. Our family could not have done this on our own. So, I end this post as I usually do - and I hope it doesn't sound trite because we mean it - THANK YOU!!! Thank you for your continued support, your prayers, and your donations both large and small - because all of that is what got us here today. We have come so far. We still have a long, long way to go - but aren't we truly blessed to have you guys in our corner?!?! THANK YOU.
Update: Tomorrow we are going as a family up to Kennedy Krieger Institute in Baltimore to meet another LBSL family that has flown in from Brazil. This is the first time Ellie will meet someone with her disease. They will hand over a check to support the research project and so will we. We will also get to tour the laboratory; speak with the researchers; and get a better idea of how things are coming along. We will post some pics tomorrow after we return. Thanks for continued prayers.
Our dear friend Sarah Crisp Bossieux and her family held a lemonade stand to raise money for Ellie's cure and then challenged some friends and neighbors on FB to do the same. I just can't think of anything sweeter than this. So filled with love and so grateful for these people in our lives. Thank you Bossieux family!!!! Sam, Maddie and Natalie - you guys are THE BEST! Ellie and Vivian say hello. They miss you:) #LemonadeForEllie
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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.