Omics Initiative 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.

Bill’s hemophilia caused several serious health crises. After nearly 60 years of continual treatments, a gene therapy transformed his life.

For 50-plus years, Jay dealt with the frequent treatments needed for his hemophilia. A gene therapy put an end to the treatments and to the worry the disease caused him.

For nearly 50 years, Bill needed frequent treatment for hemophilia — often every few days. A gene therapy changed everything.

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.

For the first 30 years of her life, Aliya needed monthly blood transfusions for her inherited blood disorder. A gene therapy changed everything.

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.