Human Genetics Patient Stories

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.

Jasmine, 14, is thriving thanks to early intervention and continuing treatment and support from the 22Q and You Center at Children's Hospital of Philadelphia.

Alivya traveled to CHOP from her home in Indiana to receive treatment for Beckwith-Wiedemann syndrome. Today, she’s home — and smiling.

A multidisciplinary team at Children’s Hospital of Philadelphia provides care for Oliver who was diagnosed with Cornelia de Lange Syndrome.

Genetics experts at Children’s Hospital of Philadelphia have helped Cortney and Ryan identify their daughter’s rare genetic mutation, leading to improved care.

Genetic testing at Children’s Hospital of Philadelphia found a mutation in Connor’s STAT3 gene, which led to a tailored treatment plan.

Genetic tests revealed that James had two rare, unrelated syndromes. His treatment plan was adjusted to address his unique needs, and he is now thriving.

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