Metabolic Disease Program Patient Stories

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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.

Methylmalonic Acidemia: Gavin’s Story

After being rushed to CHOP with dangerously high level of ammonia, baby Gavin was diagnosed with methylmalonic acidemia, a rare, life-threatening metabolic condition.