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

Area of Science:

• Medical Genetics
• Newborn Screening
• Rare Diseases

Background:

• Pompe disease screening is standard for newborns to enable early treatment, particularly for infantile-onset Pompe disease (IOPD).
• Most newborns with abnormal screening results actually have late-onset Pompe disease (LOPD), creating diagnostic challenges.
• Early LOPD diagnosis introduces uncertainty regarding symptom onset, impacting families and healthcare providers.

Purpose of the Study:

• To explore the experiences of mothers whose children received a late-onset Pompe disease (LOPD) diagnosis following newborn screening.
• To understand the psychosocial impact of LOPD diagnosis and ongoing medical monitoring on parents.

Main Methods:

• A qualitative descriptive study was employed to gather in-depth insights.
• Eight mothers were interviewed regarding their experiences with newborn screening (NBS) results, diagnosis, living with LOPD, and medical monitoring.
• Conventional content analysis was used to analyze interview transcripts.

Main Results:

• Communicating abnormal NBS results initially evoked negative emotions, including fear and uncertainty about future symptom onset.
• Medical monitoring heightened parental worry but also provided reassurance through vigilant management.
• Mothers' emotional states evolved towards thankfulness and reassurance with increased time and education.

Conclusions:

• Positive NBS results for LOPD can cause significant psychosocial distress for parents.
• Healthcare providers can utilize these findings to better support families navigating LOPD diagnosis and monitoring.
• Education and consistent medical oversight are crucial for managing parental anxiety and fostering positive coping mechanisms.