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

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

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.

Diagnosed with polydactyly shortly after birth, surgery at CHOP has helped Zaki gain full hand function and even better flexibility than his doctors expected.

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

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.

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.

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.

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

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

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.

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

When Brody was born, his parents were shocked to learn he had Down syndrome. Today, they've learned to embrace the unexpected with their 12-year-old son.

Over the past few years, Audrey has met all her milestones — and now she is preparing for the 2019 CHOP Buddy Walk®.

When Brynnli's mom noticed her daughter's head was growing strangely, she sought help from craniofacial experts at CHOP.

After years of uncertainty, genetic testing for epilepsy helped identify the cause of Ryan’s seizures. With this breakthrough, he’s now nearly seizure free.

It wasn’t until Ayleen’s parents brought her to CHOP that they learned she had thyroid cancer. Then she was in expert hands at the Pediatric Thyroid Center.

Chance had fetal surgery to treat a lower urinary tract obstruction. The happy baby returns to CHOP from his home in Brooklyn for urology and nephrology care.

Activities may be a bit harder for Kendall, 2, who has Down syndrome, but he's determined to keep trying to succeed.

Diagnosed with chylothorax at birth, Lucas needed expert lymphatic care at Children's Hospital of Philadelphia (CHOP) to survive.