Human Genetics Patient Stories

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.”

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.

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.