1. Parent Experiences with Newborn Screening and Medical Management for Late-onset Pompe Disease
- Author
-
Crossen, Kaylee
- Subjects
- Genetics, Pompe disease, Late-onset Pome disease, Newborn screening, Pre-symptomatic patients, Parent perspectives, Medical management
- Abstract
Pompe disease was added to the recommended uniform screening panel to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, two-thirds of 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 parents’ experiences of their child’s LOPD diagnosis and medical monitoring to understand patient-provider relationships and adherence challenges. A qualitative descriptive approach was chosen to gain an in-depth understanding of parental experiences. Eight mothers were interviewed to assess their experiences. Interview questions were designed around experiences with positive NBS and diagnosis, experiences with living with the diagnosis, and experiences with medical monitoring. Parents were asked what they reported as their child’s monitoring plan, and what changes they wanted regarding monitoring. Interview transcripts were analyzed through conventional content analysis. Results of this study found that negative emotions like fear were more frequent with communication of the NBS. Parents expressed uncertainty surrounding age of symptom onset and the future. The medical monitoring experience increased worry but parents expressed that being vigilant with management reassured them. In summary, this study suggests parental emotions shifted to thankfulness and reassurance with time and education about the condition and monitoring plan. These findings can guide providers on how to care for this patient population and be sensitive to the psychosocial implications of receiving a positive NBS and an LOPD diagnosis.
- Published
- 2021