Metabolic Disease Program Patient Stories
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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.
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
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.