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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.

Patient story

Lymphatic Microsurgery: Daniel’s Story

Diagnosed with a rare lymphatic condition called chylothorax, a newborn undergoes life-saving surgery at CHOP’s Center for Lymphatic Disorders.

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

Hypogammaglobulinemia: Dylan’s Story

Looking for bright spot during COVID-19? Look no further than 7-year-old Dylan, an active 2nd grader who’s had his first infection-free year in his entire life.

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