Roberts Individualized Medical Genetics Center (IMGC) Patient Stories
1 - 10 of 13
Hyperinsulinism and Kabuki Syndrome: Amelia’s Story
A diagnosis of Kabuki syndrome connected all of Amelia’s symptoms, and CHOP has experts to care for each and every condition.
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.
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.
Individualized Medical Genetics: Athan’s Story
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.
Pallister-Killian Syndrome (PKS): Violet’s Story
Bobby and Amber moved from Chicago to Philadelphia so that their daughter, Violet, could receive care at Children’s Hospital of Philadelphia.
Cornelia de Lange Syndrome (CdLS): Oliver’s Story
A multidisciplinary team at Children’s Hospital of Philadelphia provides care for Oliver who was diagnosed with Cornelia de Lange Syndrome.
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.
Rotationplasty for Osteosarcoma: Liam’s Story
To remove a cancerous tumor, Liam had a surgical procedure that removed only the middle portion of his leg and let him remain active.
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.
Coffin-Siris Syndrome: Julia’s Story
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.