Division Genetics Patient Stories

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.

Louie began suffering from a form of mitochondrial disease when he was 11. Now 18, symptoms of his disease have been reduced through exercise.

Ryan, 12, has mitochondrial disorder and eosinophilic esophagitis. With the help of specialists, he’s able to attend classes at school.

Juliet is the first patient in the world to be diagnosed with a rare form of mitochondrial disease. The breakthrough discovery led to the diagnosis of 80 additional patients worldwide.

Specialists at Children’s Hospital of Philadelphia diagnosed Lincoln, 5, with mitochondrial disease and constantly personalize his care. 

Matthew, 46, and Joshua, 42, are brothers who participate in studies that may lead to new treatments for their condition, mitochondrial disease.