Human Genetics Patient Stories

1 - 10 of 18

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.

Kallmann Syndrome: Jill’s Story

Jill smiling

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.