Mason Family: Fabry disease
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.
Metabolic Disease Program Patient Stories
Read stories about patients who have been cared for by the Metabolic Disease Program.
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Bone marrow transplant to treat Hurler syndrome: Josie’s story
18-month-old Josie received a stem cell transplant to stop a rare and devastating genetic condition in its tracks.
Bone marrow transplant for Hurler syndrome: Ethan’s story
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.
Gaucher Disease: Amber's Story
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.
Gaucher Disease: Steven's Story
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.