Skip to main content

Side Menu Card

Patient Stories

Our patients' stories

Patient story

New Genetic Condition Identified: Luke’s Story

Luke’s repeated infections worried his parents and puzzled his doctors. Whole-exome sequencing helped CHOP researchers discover a new genetic disease causing his symptoms and determine the best course of treatment.

Patient story

Pseudotumor Cerebri Syndrome: Lily’s Story

With pseudotumor cerebri syndrome, the symptoms are real even though the tumor is not. Lily relied on her CHOP doctors and her own perseverance to combat the condition.

Patient story

Leigh Syndrome: A Family’s Quest for Answers

When CHOP discovered the genetic mutation that caused two boys’ early deaths, their family donated $2 million to CHOP to propel mitochondrial disease research even further.

Jump back to top