Division Genetics Patient Stories
1 - 10 of 14
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.
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.
Chromosome 22q11.2 Deletion and Tetralogy of Fallot: Jack's Story
Born with a heart defect called tetralogy of Fallot, Jack was just 9 days old when his family learned he also had chromosome 22q11.2 deletion, a rare chromosomal difference.
Individualized Medical Genetics: Camryn’s Story
Genetics experts at Children’s Hospital of Philadelphia have helped Cortney and Ryan identify their daughter’s rare genetic mutation, leading to improved care.
Individualized Medical Genetics: Connor’s Story
Genetic testing at Children’s Hospital of Philadelphia found a mutation in Connor’s STAT3 gene, which led to a tailored treatment plan.
Individualized Medical Genetics: James’ Story
Genetic tests revealed that James had two rare, unrelated syndromes. His treatment plan was adjusted to address his unique needs, and he is now thriving.
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.
Methylmalonic Acidemia: Gavin’s Story
After being rushed to CHOP with dangerously high level of ammonia, baby Gavin was diagnosed with methylmalonic acidemia, a rare, life-threatening metabolic condition.
Mitochondrial Depletion: Louie’s Story
Louie began suffering from a form of mitochondrial disease when he was 11. Now 18, symptoms of his disease have been reduced through exercise.
Mitochondrial Disease and Eosinophilic Esophagitis: Ryan’s Story
Ryan, 12, has mitochondrial disorder and eosinophilic esophagitis. With the help of specialists, he’s able to attend classes at school.