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.

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.

A diagnosis of Kabuki syndrome connected all of Amelia’s symptoms, and CHOP has experts to care for each and every condition.

Luke’s repeated infections worried his parents and puzzled his doctors. Whole-exome sequencing helped CHOP researchers discover a new genetic disease causing his symptoms and determine the best course of treatment.

Rosalie had been in and out of the hospital a few times at three months old before coming to the Kabuki Syndrome Clinic at CHOP for answers.

Bobby and Amber moved from Chicago to Philadelphia so that their daughter, Violet, could receive care at Children’s Hospital of Philadelphia.

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

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

To remove a cancerous tumor, Liam had a surgical procedure that removed only the middle portion of his leg and let him remain active.

When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical Genetics Center for a diagnosis of Kallmann syndrome.