Metabolic Disease Program Patient Stories

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Donor Story: North Smyrna Elementary School

Watson, 2, has been a patient of CHOP’s Metabolic Disease Program since he was 13 days old. Recently, North Smyrna Elementary School — where his mom is a teacher — held a “Rock Your RARE” wacky dress day to support Watson and raise awareness of rare diseases.

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.