Human Genetics Patient Stories
1 - 10 of 31
Beckwith-Wiedemann Spectrum: Chelsea's Story

It took the experts in the Beckwith-Wiedemann Spectrum Clinic to give Chelsea’s family the answer they sought: a diagnosis. Now her care is properly managed.
EDEM3-CDG: Austin, Savannah and Lily’s story

Mysterious symptoms in one family’s three children leads to identification at CHOP of a new form of congenital disorder of glycosylation (CDG).
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.
Beckwith-Wiedemann Syndrome and Pancreatoblastoma: Kaitlyn’s Story

Kaitlyn, 12, has remained positive through multiple surgeries for the symptoms of a rare genetic disorder and treatment for an associated cancer.
‘KOP Makes My Day More Predictable’: Alex’s Family’s Story

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.
Bone Marrow Transplant to Treat Hurler Syndrome: Josie’s Story

18-month-old Josie received a stem cell transplant to stop a rare and devastating genetic condition in its tracks.
Bone Marrow Transplant for Hurler Syndrome: Ethan’s Story

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.
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.
Oral Teratoma and Cleft Palate: Stella’s Story

An oral tumor formed before birth caused Stella’s cleft palate, but CHOP surgeons expertly corrected both conditions. Now she’s babbling away.
Leigh Syndrome: Baron’s Story

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.