Katherine Belle's Story
Katherine Belle was born healthy on July 9, 2011, and developed normally for the first year of her life. When she turned two in July of 2013 and was still unable to walk after hitting all of her other major milestones, Katherine had an MRI that showed a malformation of her cerebellum, the area of the brain that controls balance and regulates movement.
After intially being misdiagnosed with Infantile Nueroaxonal Dystrophy (INAD) for a year and a half, whole exome sequencing (WES) results confirmed that she has a form of Mitochondrial Complex 1 Deficiency 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 her six-year old body desperately needs a treatment that does not yet exist. She fights this disease daily with zero treatments, and mitochondrial disease typically affects multiple organs before resulting in an early death.
We are racing against time to find a treatment for Katherine Belle.
Through this research, we are teaming up with Dr. Marni Falk and her research team to investigate therapies specific to Katherine Belle's genetic mutation, NUBPL. 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. This 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.