Oral Teratoma and Cleft Palate: Stella’s Story
An oral tumor formed before birth caused Stella’s cleft palate, but CHOP surgeons expertly corrected both conditions. Now she’s babbling away.
Division of Human Genetics Patient Stories
Our team of attending physicians, genetic counselors, nurses and dietitians work with a variety of departments at CHOP to ensure a continuity of care and individualized treatment for children with genetic conditions.
Appointments and referrals
Leigh Syndrome: Baron’s Story
When a year of bloodwork failed to uncover the cause of Baron’s progressive developmental delays, his family turned to CHOP’s Mitochondrial Medicine for answers.
Mitochondrial Disease: Dakota’s Story
Facing a tough diagnosis together, CHOP doctors offer Dakota hope and support, while she helps them learn more about her rare mitochondrial disease.
Saethre-Chotzen Syndrome and Blenderized Tube Feedings: Savannah's Story
CHOP dietitians work with Savannah’s parents to find a ‘real food’ solution to meet her medical needs and her family's wishes.
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.
22q deletion syndrome: Amirah's story
Saquon Barkley's shoes tell a story about his niece Amirah, who has a rare genetic condition and is being treated at Children's Hospital of Philadelphia.
Beckwith-Wiedemann Syndrome: Alivya’s Story
Alivya traveled to CHOP from her home in Indiana to receive treatment for Beckwith-Wiedemann syndrome. Today, she’s home — and smiling.
22q11.2 Deletion Syndrome: Jasmine's Story
Jasmine, 14, is thriving thanks to early intervention and continuing treatment and support from the 22Q and You Center at Children's Hospital of Philadelphia.