A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.

ABSTRACT: Pompe disease was added to the United States recommended uniform screening panel in 2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, most newborns with abnormal newborn screening (NBS) for Pompe disease have late-onset Pompe disease (LOPD). An early diagnosis of LOPD raises the question of when symptoms will arise which is challenging for parents, patients, and providers managing an LOPD diagnosis. This study aimed to characterize mothers' experiences of their child's LOPD diagnosis and medical monitoring. A qualitative descriptive approach was chosen to gain an in-depth understanding of parental experiences. Eight mothers were interviewed about their experiences with positive NBS and diagnosis, experi

SUBMITTER: Crossen K 

PROVIDER: S-EPMC9326644 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature