Our patients' stories

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.

Treating Bladder Dysfunction With Minimally Invasive Nerve Stimulation: Viviana’s Story
CHOP’s Urology Department treats a teen with approved technique that stimulates a nerve in the foot to restore bladder function.

Khymir’s Story: Gene Therapy to Treat Cerebral Adrenoleukodystrophy
Khymir is a 4-year-old boy who was found to have adrenoleukodystrophy (ALD) through Pennsylvania’s newborn screening.

Gene Therapy for Duchenne Muscular Dystrophy: Cash’s Story
Children’s Hospital of Philadelphia now offers the first-ever gene therapy treatment for Duchenne Muscular Dystrophy (DMD) to patients like 6-year-old Cash. This breakthrough treatment slows the progression of symptoms and can improve strength and endurance for patients with DMD.

Diagnosing Kagami-Ogata syndrome (KOS): Luna’s Story
Kagami-Ogata syndrome (KOS) is so rare that some hospitals have never even heard of it. But CHOP was dedicated to getting a diagnosis.

Gene Therapy for Sickle Cell Disease: Marie-Chantal’s Story
An FDA-approved gene therapy is giving people with sickle cell disease a future they didn’t think they’d have.

Giving Through Gratitude: Gigi’s Story
The Hess family nearly lost their daughter to a deadly virus. Since then, they’ve given back by partnering with CHOP to help foster kids.

Broc’s Story: High-intensity Focused Ultrasound to Treat Seizures
Broc was 7 years old when he had his first tonic-clonic seizure (also known as a grand mal). He lost consciousness and had violent muscle contractions. It was extremely frightening for his parents, Heather and Dave, to see.

Repeated Concussions: Liam’s Story
After a youth athlete sustains repeated concussions, CHOP’s Minds Matter Concussion Program encourages him to change sports to regain control of his future.

Nance Horan Syndrome: Chaz’s Story
Chaz was only two months old when his family learned he was nearly blind. Family history provided a clue to a rare genetic disorder called Nance Horan syndrome.

Rhys’s Story: Routine Well Visit Leads to Diagnosis of Wilms Tumor
CHOP Primary Care pediatricians and specialists collaborated to diagnose and treat a cancerous tumor before 6-month-old Rhys had any symptoms and the tumor spread.

GCK Hyperinsulinism: Nico’s Story
Being part of a clinical trial as a patient of the HI Center research gave Nico the independence to be a normal kid and still safely manage his hyperinsulinism.

Compound Fracture: Anthony’s Story
After an e-scooter accident left Anthony with a broken ankle and serious wounds, a CHOP Orthopedic Trauma Surgeon stepped in to help.

Hypospadias: Ali’s Story
Ali and his family traveled from Dubai to Thailand to Washington, D.C., to Philadelphia, where they finally found confidence and comfort in their care team and the surgical approach.

Stephanos’ Story
Stephanos was diagnosed with a congenital heart defect in utero and had three surgeries before he turned 3. Thanks to the Fetal Heart Program at Children’s Hospital of Philadelphia, Stephanos is now a 6-year-old who loves Legos and sports, and swings a mean golf club.

Saethre-Chotzen Syndrome and Encephalocele: Elana’s Story
Elana was born with abnormalities of her skull requiring surgery. When her parents came to CHOP, ‘We knew it was going to be OK.’

Neuroendocrine Tumor: Peyton’s Story
After being diagnosed with a rare type of tumor in her airway, Peyton came to CHOP for surgery that successfully saved part of her right lung.

Pfeiffer Syndrome: Ryley’s Story
Nine-year-old Ryley has remained sassy and strong while undergoing 40-plus procedures to repair her differences of the skull and face.

Logan's Journey with Rare Syndromes and Speech Development at CHOP
Logan battled Sturge-Weber and Klippel-Trenaunay syndromes, and has triumphed over speech difficulties with the support of CHOP specialists.

Erykah’s Story: Regaining Mobility After Brain Hemorrhage and Cardiac Arrest
Physical and occupational therapy has helped Erykah achieve a measure of mobility after a devastating occurrence robbed her of all independence.