Division of Human Genetics Patient Stories

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.

An FDA-approved gene therapy eliminates acute pain episodes for people with sickle cell disease and transforms their life expectancy.

CHOP provided the elusive diagnosis of Beckwith-Wiedemann, so Chelsea is getting the care she needs.

Mysterious symptoms in one family’s three children leads to identification at CHOP of a new form of congenital disorder of glycosylation (CDG).

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

Kaitlyn, 12, has remained positive through multiple surgeries for the symptoms of a rare genetic disorder and treatment for an associated cancer.

With a rare genetic syndrome, 15-month-old Alex is followed by multiple specialists. When the appointments are at King of Prussia, his mother feels relief and certainty.

18-month-old Josie received a stem cell transplant to stop a rare and devastating genetic condition in its tracks.

Diagnosed before his first birthday with a rare disease that causes ongoing damage to cells and organs, Ethan quickly received the only treatment that prevents further disease.

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.