Human Genetics Patient Stories

1 - 10 of 29

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.

Leigh Syndrome: Baron’s Story

Baron riding bike

When a year of bloodwork failed to uncover the cause of Baron’s progressive developmental delays, his family turned to CHOP’s Mitochondrial Medicine for answers.

Donor Story: North Smyrna Elementary School

Watson, 2, has been a patient of CHOP’s Metabolic Disease Program since he was 13 days old. Recently, North Smyrna Elementary School — where his mom is a teacher — held a “Rock Your RARE” wacky dress day to support Watson and raise awareness of rare diseases.