Roberts Individualized Medical Genetics Center (IMGC) Patient Stories

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.

Athan was very ill, but tests were inconclusive until the Roberts Individualized Medical Genetics Center uncovered a rare gene mutation. With targeted treatment, Athan is thriving.

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.