Division Genetics Patient Stories

Jasmine, 14, is thriving thanks to early intervention and continuing treatment and support from the 22Q and You Center at Children's Hospital of Philadelphia.

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.

When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical Genetics Center for a diagnosis of Kallmann syndrome. 

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.