Division Genetics Patient Stories

1 - 10 of 13

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.

Mitochondrial Disease: Juliet's Story

Juliet and her dog

Juliet is the first patient in the world to be diagnosed with a rare form of mitochondrial disease. The breakthrough discovery led to the diagnosis of 80 additional patients worldwide.