I was born with a rare genetic condition with no medical cure, Nonketotic hyperglycinemia, or NKH. This condition is SO rare that it's considered an "orphan disease,” this means it affects so few people in the world (500 for NKH), that there is little to no funding for research to cure it! You can learn more about my story here. NKH causes many challenges with development, seizures, autism, cerebral palsy, and CVI blindness.
Research funds are left solely to the parents, and families of those affected, and cures do not run cheap! In fact, gene replacement therapy is the only real medical cure being researched for NKH, and the projected cost is three million dollars!
NKH requires multiple anti-epileptic medications to attempt to control seizures. Sodium Benzoate is taking every 4 hours around the clock to keep glycine levels lowered. The biggest battle is in the blood-brain barrier. NKH requires approximately 20 syringes of medications given all day and night.
There is no current medical curative treatment for NKH at this time. But we are going to change that with your help! We are on a mission to raise 3 million dollars to further research and for gene therapy options globally for GLDC and AMT gene mutations.
Universities around the world are researching NKH therapies, medications, gene replacement, and other treatment options.
Nicholas Greene, Ph.D., Professor of Developmental Neurobiology, ICH Developmental Biology & Cancer Programme, UCL GOS Institute of Child Health
The University of Notre Dame, Boler-Parseghian Center for Rare and Neglected Diseases
Dr. Johan Van Hove, MD, Ph.D., Professor of Pediatrics, Clinical Genetics, Biochemical Genetics, Children's Hospital Colorado
Kalipada Pahan, Ph.D., Professor of Neurology Professor, Department of Neurological Sciences, Rush Medical College