Georgia’s Story | Newborn Screening | Pompe Disease

When Georgia was first born, her mom Kari was like most moms. She didn’t really know anything about newborn screening. Georgia was identified with Infantile Onset Pompe disease following screening in Missouri. In Kari’s words, find out what newborn screening means for Georgia and her family.

Update (May 2019): The Jacobsen family moved to North Carolina to be closer to Dr. Priya Kishnani and her team at Duke University Medical Center. Kari and Georgia were recently featured in this local NC news story:

‘NC’s newborn screening fees triple amid test delays’ via WRAL

At Baebies, we believe that everyone deserves a healthy start. When it comes to some congenital diseases, days matter. Earlier detection and referral can lead to earlier treatment and improve the outcome for the baby.

Baebies SEEKER is the first FDA-cleared product for newborn screening of lysosomal storage disorders including Pompe, Mucopolysaccharidosis Type I (MPS I), Gaucher and Fabry disease. SEEKER provides results in under 3 hours. Time from punch to referral is as short as one day.


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