Roberts Individualized Medical Genetics Center (IMGC) Patients Stories Listing

The IMGC team is comprised of genetic specialists including attending physicians and genetic counselors who are prepared to assist families and referring clinicians before, during and after any genetic testing your child requires.

Appointments and referrals
Fax
Newborn screening indicated Dean (left) and Danny (right) had Fabry disease
Patient story

Mason Family: Fabry Disease
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.
Patient story

Nance Horan Syndrome: Chaz’s Story
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.
Patient story

New Genetic Condition Identified: Luke’s Story
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.
Patient story

Kabuki Syndrome: Rosalie's Story
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.
Patient story

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.
Patient story

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