Our patients' stories
Finding Relief from Fructose Intolerance: Annalise’s Story
Annalise suffered with undiagnosed pain for two years before being referred to the Integrative Food Reactions Clinic at CHOP. Now, she has found sweet relief from her symptoms.

Bridget’s Story: Chiari Brain Surgery
Thanks to brain surgery at CHOP, Bridget went from experiencing daily pain caused by pulsing headaches to being moved up to varsity lacrosse, all in one year.

Caring for a Rare Variation of a Rare Disease
CHOP not only diagnosed Amelia’s extremely uncommon condition, it had the experts to treat her.
A Chaotic Symphony: Managing Three Kids with HI
Caring for three siblings with hyperinsulinism — and keeping their blood sugar in the safe range — calls for creativity and guidance from CHOP.

Feel the Beat: Lyric’s Journey with Cochlear Implantation
After cochlear implantation at Children’s Hospital of Philadelphia, a child with sensorineural hearing loss is able to hear – and enjoy – music for the first time.

Mason Family: Fabry Disease
Newborn screening for twins led to the discovery of Fabry disease, a rare lysosomal storage disease. The family found breakthrough therapy and lifelong support at CHOP.

Anaya’s Story: A New Pulmonary Valve, a New Life
CHOP’s Cardiac Center makes history when Dr. Katsuhide Maeda implants a MASA polymeric pulmonary valve in a patient’s heart to treat congenital heart defects.

Ava’s Story: Rotationplasty Promises Greater Mobility
Ava was diagnosed with osteosarcoma, an aggressive bone cancer. A novel surgery called rotationplasty allowed her ankle joint to function as a knee, maximizing her future mobility.
A New Ear for Lilliana
Lilliana was born with only one ear due to hemifacial microsomia, a condition in which the tissues on one side of the face are underdeveloped. Doctors at CHOP gave Lilliana a new ear.

A New Ear: Lilliana’s Story
Lilliana was born with only one ear due to hemifacial microsomia, a condition in which the tissues on one side of the face are underdeveloped. Doctors at CHOP gave Lilliana a new ear.
Leo Fought Like a Lion to Beat Stage 5 Kidney Cancer
Two hospitals work together to care for a 3-year-old with cancer and his family.

Weston’s Story: Management of 4H Leukodystrophy
It took many doctor visits and diagnostic tests before a genetic test came back positive for leukodystrophy when Weston was 3 years old.

Seaton’s Story: Venous Thoracic Outlet Syndrome
A blood clot discovered at a local hospital brought Seaton to Children's Hospital of Philadelphia where he was diagnosed with venous thoracic outlet syndrome and underwent successful rib resection surgery to get back on the court.

Osteomyelitis: Shlomo’s Story
Shlomo was diagnosed with osteomyelitis, a rare bone infection, after complaining of pain in his ankle. CHOP got him back on his feet after over a year without walking.

Hugh’s Story
Hugh was diagnosed with congenital diaphragmatic hernia (CDH) in utero and received care at the Center for Fetal Diagnosis and Treatment at Children’s Hospital of Philadelphia (CHOP), which has treated more CDH cases than any hospital in the world.

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.