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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.

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