Newborn screening for twins led to the discovery of Fabry disease, a rare lysosomal storage disease. The family found breakthrough therapy and lifelong support at CHOP.

18-month-old Josie received a stem cell transplant to stop a rare and devastating genetic condition in its tracks.

Diagnosed before his first birthday with a rare disease that causes ongoing damage to cells and organs, Ethan quickly received the only treatment that prevents further disease.

Bette Mickley didn't believe her daughter Amber had growing pains, for one simple reason: Amber wasn’t growing. Instead, the family learned Amber has Gaucher Disease, a rare genetic disorder.

When Diana Huang learned her nephew, Steven, was sick with Gaucher disease in his native China, she helped him come to The Children's Hospital of Philadelphia for treatment.