Katherine Belle has a progressive mitochondrial complex 1 disease caused by mutations in the NUBPL gene. The disease causes atrophy of the cerebellum, as well as lesions in other areas of her brain, global developmental delay, ataxia, nystagmus, and speech articulation difficulty.
Despite her sunny disposition and conquer the world attitude, the harsh reality is that she desperately needs a treatment that does not yet exist. Mitochondrial disease has zero FDA approved treatments and typically affects multiple organs of patients, resulting in an early death.
We are literally racing against time to find a treatment to slow the progression of the disease and save her life.
Through this research, we are teaming up with Dr. Marni Falk and her research team to investigate therapies. 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. The research gives us hope that therapies will soon be developed to help treat the mitochondrial dysfuntion of Katherine Belle and countless others.
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