Human Genetics Patient Stories
1 - 10 of 32
Gene Therapy for Sickle Cell Disease: Segun’s Story
An FDA-approved gene therapy eliminates acute pain episodes for people with sickle cell disease and transforms their life expectancy.
Beckwith-Wiedemann Spectrum: Chelsea's Story
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.”
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.