Our patients' stories

VEPTR Surgery for Spinal Muscular Atrophy: Raymond’s Story
Surgery in a child with spinal muscular atrophy (SMA) has eliminated life-threatening respiratory infections by straightening the spine and separating the ribs.

Fetal surgery for myelomeningocele: Kaitlyn’s story
Diagnosed before birth with the most severe form of spina bifida, Kaitlyn underwent surgery while she was still in the womb. Now 5, she is happy and healthy.

Gene Therapy Treatment for Spinal Muscular Atrophy: Céline’s Story
Céline’s symptoms dramatically improved after she received a new gene therapy treatment for Type 1 spinal muscular atrophy (SMA) at CHOP.

Saethre-Chotzen Syndrome and Blenderized Tube Feedings: Savannah's Story
CHOP dietitians work with Savannah’s parents to find a ‘real food’ solution to meet her medical needs and her family's wishes.

Trisomy 21: Sara’s College Story
Down syndrome didn’t stop Sara from dreaming of going to college, and with the help of CHOP’s Trisomy 21 Program, she is now living her dream.

Gluten Sensitivity: Logan’s Story
As one of the youngest members of the World Championship Lego® robotics team, 9-year-old Logan doesn’t let gluten sensitivity hold him back.

Pallister-Killian Syndrome (PKS): Violet’s Story
Bobby and Amber moved from Chicago to Philadelphia so that their daughter, Violet, could receive care at Children’s Hospital of Philadelphia.

Cornelia de Lange Syndrome (CdLS): Oliver’s Story
A multidisciplinary team at Children’s Hospital of Philadelphia provides care for Oliver who was diagnosed with Cornelia de Lange Syndrome.

Rare Genetic Muscle Condition: Sadie
After a five-year journey, a new test by the Roberts Individualized Medicine Genetics Center diagnosed Sadie’s rare genetic muscle condition.

Gastroparesis: Arlene's Story
Arlene couldn’t eat. CHOP doctors unraveled her complex medical history to find a solution that worked for her.

Thymectomy for Myasthenia Gravis: Michaela’s Story
Diagnosed with myasthenia gravis, which causes eye drooping and double vision, Michaela is grateful for the team at CHOP for helping her see the world with both eyes wide open.

Surgical reconstruction of thumb (pre-axial) polydactyly: Zaki’s story
Diagnosed with polydactyly shortly after birth, surgery at CHOP has helped Zaki gain full hand function and even better flexibility than his doctors expected.

Conducting Lymphatic Anomaly: Daniel's Story
Doctors and genetic researchers at CHOP teamed up to find the gene mutation responsible for Daniel's painful lymphatic disorder, and successfully treat it.

22q deletion syndrome: Amirah's story
Saquon Barkley's shoes tell a story about his niece Amirah, who has a rare genetic condition and is being treated at Children's Hospital of Philadelphia.

Eosinophilic Esophagitis: Caleigh's Story
For 10 years, Caleigh couldn’t tolerate most foods because of eosinophilic esophagitis (EoE). But with treatment at CHOP, she is now able to enjoy many foods.

Coronary Artery Anomaly: Ryan's Story
Ryan had no idea anything was wrong with his heart. But a frightening diagnosis meant he had to take a break from sports to fight for his life.

Sagittal Craniosynostosis: Bear's Story
When Bear's head became misshapen as an infant due to craniosynostosis, his family learned he needed surgery on his skull.

Down syndrome: Neva's Story
Neva, an 11-year-old with Down syndrome, is confident, full of joy and ready for anything, with the support of her family.

Down Syndrome: Eve's Story
For 15-year-old Eve, every day is a new adventure and she can't wait to see what's next: fashion, sports or travel.

Gastroparesis: Madison’s Story
CHOP’s doctors listened carefully, and a gastroparesis patient who was once sidelined by pain and anxiety is now running long-distance races.