Roberts Individualized Medical Genetics Center (IMGC) Patient Stories

1 - 10 of 13

New Genetic Condition Identified: Luke’s Story

Luke and his mom

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.

Kabuki Syndrome: Rosalie's Story

Rosalie smiling

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.

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.

Kallmann Syndrome: Jill’s Story

Jill smiling

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

Coffin-Siris Syndrome: Julia’s Story

Julia smiling

After four years of uncertainty, the Roberts Individualized Medical Genetics Center helped the Steigerwalt family find a diagnosis behind their daughter’s complex medical condition.