Division of Human Genetics Patient Stories

Our team of attending physicians, genetic counselors, nurses and dietitians work with a variety of departments at CHOP to ensure a continuity of care and individualized treatment for children with genetic conditions.

Appointments and referrals
Newborn screening indicated Dean (left) and Danny (right) had Fabry disease
Patient story

Mason Family: Fabry Disease
Newborn screening for twins led to the discovery of Fabry disease, a rare lysosomal storage disease. The family found breakthrough therapy and lifelong support at CHOP.
Patient story

WAGR Syndrome: Miranda’s Story
CHOP researchers have published the most comprehensive description of WAGR syndrome, which affects less than 450 people worldwide, including Miranda.
Patient story

Liver Transplant: Josie’s Story
As a baby, Josie received a liver transplant. This began a 10-year journey that included bonding with her donor’s family and a generous gift to help future transplant patients.