BENEFITING: The Champ Foundation
Fundraising contributions will help enable The Champ Foundation to sponsor research in support of better treatment options and a cure for Pearson Syndrome (PS) -- a multi-system disease caused by a deletion in mitochondrial DNA. PS is often fatal in infancy, and its hallmark features are sideroblastic anemia and pancreatic insufficiency. In addition to the hematological and pancreatic symptoms, PS can impair the heart, kidneys, eyes, ears and brain.
Since its discovery in 1979 by Howard Pearson, there have only been around 100 cases reported in the medical literature. PS is probably under-diagnosed, since few doctors are aware of the disease’s existence, much less its symptoms.
The Champ Foundation was founded in 2015 in honor of William Reynolds, who was diagnosed with PS when he was two months old. William was severely anemic and neutropenic since birth, but has yet to experience any other symptoms of the disease. It is very likely that he will, unless we can better understand Pearson Syndrome and how to alter its course.