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Foundation Stories

Stories to inspire

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

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.

Patient story

Duchenne Muscular Dystrophy: Cooper’s Story

Cooper was one of the first at CHOP to receive a new FDA-approved infusion therapy for Duchenne muscular dystrophy, which is given to him at home. Results are promising.

Patient story

Creation of Potts Shunt on ECMO: Elias’ Story

When two-year-old Elias was placed on ECMO with severe pulmonary hypertension, his chances of survival were almost nonexistent. CHOP cardiothoracic surgeon Dr. Maeda saved his life through a risky procedure called Potts Shunt.

Patient story

Insulinoma: Leilani’s story

When doctors in Florida struggled to diagnose Leilani’s rare illness, her parents pushed to bring her to Children’s Hospital of Philadelphia, where she was cured.

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