Six-year old Katherine Belle has a rare and progressive mitochondrial complex 1 disease caused by mutations in the NUBPL gene. This devestating disease causes atrophy of the cerebellum, as well as lesions in other areas of her brain, among other things.
Katherine is a sweet, happy, funny little girl who loves her family, friends, unicorns, bunnies, and princesses. Despite her sunny disposition and conquer the world attitude, she desperately needs a life-saving treatment. Her parents are racing against the clock before it's too late.
"All of this is a race against time. Katherine's disease is progressive, so her brain cells are dying. And when they die, there's no bringing them back," says David Faughn, Katherine's dad.
Dr. Marni Falk and her research team are investigating life-saving therapies for Katherine. The Mitochondrial-Genetic Disease Clinic at the Children's Hospital of Philaphelpia (CHOP) is one of the top research centers in the nation for Mitochondrial related diseases. "Families go out and raise money, whether through silent auctions or through lemonade sales. The money goes for the salaries and the reagents to actually test the models," says Dr. Marni Falk.
Thank you very much for your interest in the Hope for Katherine Belle Mitochondrial Disease Research Fund. 100% of all contributions are tax-deductible and will go directly to fund this critical research. #Hope4KB