Human Genetics Patient Stories

1 - 10 of 32

Beckwith-Wiedemann Spectrum: Chelsea's Story

Chelsea with floaties on in a pink pool

At Chelsea’s 6-month check-up, when her mother, Laura, voiced her concerns, their local pediatrician agreed something was amiss and sent her for an immediate abdominal ultrasound. It came back negative for kidney or liver tumors, the two most frequent tumors found in children with BWSp. “That was a big relief,” says Chelsea’s mother, Laura. “But we still didn’t have a diagnosis.”

WAGR Syndrome: Miranda’s Story

Miranda playing outside

CHOP researchers have published the most comprehensive description of WAGR syndrome, which affects less than 450 people worldwide, including Miranda.

Liver Transplant: Josie’s Story

Josie holding her pet chicken

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.