Our patients' stories
Experimental Gene Therapy for Hemophilia B: Jay’s Story
For 50-plus years, Jay dealt with the frequent treatments needed for his hemophilia. A gene therapy put an end to the treatments and to the worry the disease caused him.
Patrick’s Story: Intravenous Immunoglobulin to Treat MOGAD
For Eileen and Brenden, March 14, 2020, is not only memorable because it was the day the United States declared a National Emergency due to the COVID-19 outbreak. It was also the day their son, Patrick, suffered a concussion that led to a potentially life-changing diagnosis.
A Legacy of Love: Cela’s Story
CHOP’s palliative care team supports a family through the tragic passing of their beloved daughter.
Given’s Story: Prenatal Care and Postnatal Surgery for Sacrococcygeal Teratoma
When Given’s parents learned their unborn baby had a sacrococcygeal teratoma (SCT), a tumor on the tailbone, they sought help and hope at CHOP.
Brachial Plexus Injury: Cai Li’s Story
After an international adoption, family turns to CHOP for support, surgery and therapy for son with brachial plexus injury.
Heart Transplant: Jayden's Story
Vomiting and swollen legs led to a shocking diagnosis: Jayden’s heart was failing. A heart transplant at CHOP has transformed his life.
Early Diagnosis and Treatment for X-Linked Hypophosphatemia: Eliana’s Story
Eliana inherited a rare condition affecting bone development from her mother. Both mother and daughter receive treatment at CHOP from a doctor with special expertise in the condition.
Alexander’s Story: Advancing Research and Care for Autosomal Dominant Polycystic Kidney Disease
When Carolyn was 28 weeks pregnant with her third child and her doctor in New York discovered that her baby carried the gene for autosomal dominant polycystic kidney disease (ADPKD), she became dedicated to changing the historical lack of pediatric research on the rare disease.
Nadia’s Story: Selective Dorsal Rhizotomy for Cerebral Palsy
Selective dorsal rhizotomy surgery followed by intensive physical and occupational therapy enabled Nadia to walk without an assistive device for the first time at age 6.
Experimental Gene Therapy for Hemophilia B: Bill’s Story
For nearly 50 years, Bill needed frequent treatment for hemophilia — often every few days. A gene therapy changed everything.
Congenital Hyperinsulinism: Eliza’s Story
Eliza’s family brought her to CHOP for its expertise in hyperinsulinism. She became the 600th patient to have pancreas surgery and went home cured.
Amir’s Story
Amir was born with multiple spinal problems. Surgeries at CHOP have helped straighten his spine, improving his self-confidence.
Kylen’s Story: Ketogenic Diet to Control Seizures
Just a few days after he was born, Kylen suffered four seizures and was diagnosed with epilepsy.
Christian’s Story: 24 Years After Fetal Surgery for Spina Bifida
In 2000, Christian had fetal surgery for spina bifida at CHOP. Today, he’s an EMT. Follow his journey.
Severe Spine Curves and Related Complications: Vaia’s Story
When their foster daughter faced insurmountable odds, a Delaware couple turned to CHOP for help with complications from spinal muscular atrophy.
Fighting Through the Pain
Debilitating pain without a known injury can strike some of the most driven and high-achieving youth. A CHOP program offers support, treatment and relief.
Lyra’s Story: Celebrating the 5,000th Baby Born in the Garbose Family Special Delivery Unit
After learning their unborn daughter’s life was at risk from a tumor growing on her tailbone, Lyra’s parents found hope in the SCT experts at CHOP.
Killian’s Story: Medical Management of the IMPDH2 Genetic Variant
Call it a mother’s intuition. Though Killian appeared to be growing and developing normally during prenatal appointments, Jennifer couldn’t stop worrying something was wrong.
Treatment for Congenital Hypothyroidism Before Birth: Jane’s Story
When a 20-week-old fetus was diagnosed with a large goiter, CHOP experts offered a novel solution – regular infusions of thyroid hormone into the umbilical cord.
AJ’s Story: Fetal Surgery for Congenital Diaphragmatic Hernia
Fetal surgery for severe CDH gave AJ’s lungs a chance to grow before birth, improving his chances of a better outcome. Today, the 6-year-old is thriving.