Hi, I am mom to Elouise, a fourteen-year-old girl who was a vibrant and busy three-year old when she was first diagnosed with H-ABC. Now she watches other children play from her wheelchair, and needs help to eat, dress, walk and communicate. There is currently no cure for this progressive, debilitating disorder so her parents started the Foundation to Fight H-ABC (www.h-abc.org) and is raising money for research to stop this killer before it is too late for Elouise and other children like her. There are only 150 confirmed cases of this disease, therefore it is extremely rare which adds to the challenge.
Children are dying because there is no cure. Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC) is a genetic disorder that affects the myelin, the white, fatty insulation that nerves need to carry electrical signals of the brain, and is progressive in nature. The deterioration of myelin in the brain also causes the common neurologic disorder multiple sclerosis. Myelin defects are also at the root of the leukodystrophies — genetic disorders that include H-ABC and affect 1 out of every 7,000 children annually. For more information about the disease and the research effort already well underway at Children's Hospital in Philadelphia (CHOP), go to the Fact Sheet at https://static1.squarespace.com/static/56b4e5bdb6aa604bd210138d/t/5928921515cf7dbb497c4414/1495831061271/H-ABC+Fact+Sheet-final.pdf
The costs to take this in for FDA approval and clinical trial are expensive. In the first year alone an amount of $500,000 is estimated to get the results to take this to clinical trials. This amount will be raised mostly from advocacy groups such as the Foundation and affected families. For a link to the current fundraiser to help fund the research go to www.gofundme.com/elouise1 or go to the Foundation's website at www.h-abc.org. If you would like to help by being an advocate and help connect us to people interested in helping kids with rare diseases like leukodystrophies, or provide sponsorship or grants to fund the research, or even just pray for us, please reach out to Michele Sloan at michelesloan@icloud.com or at 240 472 2770. Thank you and God bless