Human Genetics Patient Stories
21 - 27 of 27
Specialists at Children’s Hospital of Philadelphia diagnosed Lincoln, 5, with mitochondrial disease and constantly personalize his care.
After being rushed to CHOP with dangerously high level of ammonia, baby Gavin was diagnosed with methylmalonic acidemia, a rare, life-threatening metabolic condition.
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.