The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease
ONCE UPON A GENE - EPISODE 134
The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease
Alison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening.
EPISODE HIGHLIGHTS
Where does your diagnosis journey begin?
Ten days after my son Grant was born, I received a call about results from his newborn screening that indicated he was flagged for Pompe Disease and they were doing further testing. We met with the genetic counselor…
The skinny
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