Human Genetics Patient Stories
11 - 20 of 32
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.
Donor Story: North Smyrna Elementary School
Watson, 2, has been a patient of CHOP’s Metabolic Disease Program since he was 13 days old. Recently, North Smyrna Elementary School — where his mom is a teacher — held a “Rock Your RARE” wacky dress day to support Watson and raise awareness of rare diseases.
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.