Division Genetics Patient Stories

1 - 10 of 14

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.


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