Metabolic Disease Program Patient Stories

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Gaucher Disease: Amber's Story

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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

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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.