Human Genetics Patient Stories

11 - 20 of 31

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.

Rare Genetic Muscle Condition: Sadie


After a five-year journey, a new test by the Roberts Individualized Medicine Genetics Center diagnosed Sadie’s rare genetic muscle condition.

22q Deletion Syndrome: Amirah's Story


Saquon Barkley's shoes tell a story about his niece Amirah, who has a rare genetic condition and is being treated at Children's Hospital of Philadelphia.

Kallmann Syndrome: Jill’s Story

Jill smiling

When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical Genetics Center for a diagnosis of Kallmann syndrome.