Meet Natalie

Project 0001: PyroXD1

PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1) is a Protein Coding gene. Diseases associated with it present as extremely rare and progressive forms of muscular dystrophy. Less than 20 people worldwide have this specific mutation, one of those people is our daughter Natalie. Her case is considered extremely severe, as her symptoms set in at a very young age. Natalie cannot walk, crawl, or do any of the things any other 3-year-old can do. She can barely use her muscles at all. A simple cold means endless trips to the emergency room. Natalie needs constant round-the-clock care, receives hyperbaric oxygen therapy twice a week ,and uses a G tube to eat. She fights every day.

Her mutation has no cure. And, due to the small number of cases, traditional research funding from pharmaceutical companies and others simply doesn’t exist. It doesn’t make financial sense. 

Funding for this project, estimated at $250,000, will allow researchers to discover insights into the origin of this mutation, how it affects the body and possible treatment options. We know this won’t save Natalie, but we hope it will lead the way for finding a cure for PYROXD-1 and help others with rare pediatric diseases.