Our patients' stories

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.

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.

Asher’s Story: Fetoscopic Endoluminal Tracheal Occlusion for Congenital Diaphragmatic Hernia
Asher came to CHOP for a fetal surgery procedure called FETO to treat his severe CDH before he was born, giving him the best chance to survive and thrive.

Surgery for a Brain Tumor: Julia's Story
While Julia’s diagnosis of a brain tumor was a shock to her family, the location and type of tumor meant surgery at CHOP was the only treatment she needed.

Congenital Nephrotic Syndrome and Kidney Transplant: Molly’s Story
After Molly qualified for a kidney transplant, a new organ from a living donor was identified thanks to CHOP’s involvement with the National Kidney Registry.

Managing Big Emotions: Effie’s Story
Counseling on its own wasn’t enough to help Effie regulate her behavior. After working with CHOP, she started on medication and now can control her emotions.

Celiac Disease: Emma’s Story
Diagnosed with celiac disease in first grade, Emma, now 9, rallies for changes in food labeling to better protect kids like her.

Siblings with Autism: Erik and Luke’s Story
A family finds hope at CHOP and now advocates for continued autism acceptance, research and support.