Perspectives on newborn screening for Fabry disease based on mothers' experiences in Japan

Abstract

Newborn screening (NBS) for Fabry disease (FD) is an effective way to identify individuals with FD before the onset of symptoms, enabling early therapeutic treatment. The classic form of FD typically begins in early childhood or later, but the late-onset form often develops in adulthood. However, FD-NBS identifies positive cases regardless of the expected timing of symptom onset. Consequently, concerns have been raised about prolonged uncertainty, medicalization, and caregivers' hypervigilance throughout the asymptomatic period. These issues are particularly salient for mothers, who are often heterozygous carriers and primary caregivers. Despite the growing implementation of FD-NBS in some countries, the perspectives of parents, especially mothers, have not been adequately explored. This study explores the experiences, emotions, and needs of five mothers whose children were diagnosed with FD through NBS, aiming to uncover the psychological impact and support required during the asymptomatic period. Semistructured interviews were conducted and analyzed using the KJ (Kawakita Jiro) method, a kind of bottom-up qualitative approach. The findings revealed that mothers experienced a psychological burden related to monitoring for disease onset. However, this burden was reduced by several factors, including an understanding of the timing of onset, the attending physician's opinions, the passage of time, and personalized coping strategies. Needs were identified for support in understanding the disease, as well as for spaces that facilitate empathy and information exchange. Opinions regarding FD-NBS were generally positive; however, negative feelings were also expressed, including views that they did not have to discover their child's FD through NBS. These findings suggest that understanding the experiences of mothers of asymptomatic children and providing support, such as genetic counseling and peer support, could enhance the effectiveness of FD-NBS.