Metabolic Disease Program Patient Stories

Your child's team includes board-certified physicians, pediatric nurse practitioners, social workers, genetic counselors and dietitians.

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Newborn screening indicated Dean (left) and Danny (right) had Fabry disease
Patient story

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.
amber
Patient story

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.
Patient story

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.