Division Genetics Patient Stories
1 - 10 of 14
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.
After being rushed to CHOP with dangerously high level of ammonia, baby Gavin was diagnosed with methylmalonic acidemia, a rare, life-threatening metabolic condition.
Ryan, 12, has mitochondrial disorder and eosinophilic esophagitis. With the help of specialists, he’s able to attend classes at school.