Navigating the Diagnostic Journey: Parental Experiences with Healthcare Providers in the Diagnosis of Rett Syndrome
Audra Vanroboys
Co-Presenters: Individual Presentation
College: The College of Health Professions and Human Services
Major: Genetic Counseling
Faculty Research Mentor: Jill Fischer
Abstract:
Purpose: Rett syndrome (RTT) is a rare neurodevelopmental disorder marked by early development followed by regression, loss of speech, motor impairments, and stereotyped hand movements. Previous research documents long diagnostic delays for parents of children with RTT, but their experiences with healthcare providers during this journey remain unclear. This study explores parental experiences with healthcare providers during the RTT diagnostic journey, identifying key providers, best practices, areas for improvement, and the role of genetic counselors.Methods: Five semi-structured interviews with parents of children diagnosed with RTT were conducted via Zoom between November 2024 and February 2025. Thematic analysis was used to explore their diagnostic experiences and identify gaps in care.Conclusion: Themes reveal gaps in care during the diagnostic journey, including dismissive attitudes, poor communication, and lack of sensitivity from healthcare providers, with insurance coverage creating barriers. Strengths identified include transparent communication and provider empathy. When receiving the diagnosis, parents reported gaps such as lack of compassion and lack of resources, while strengths included optimistic providers and those willing to learn about RTT alongside parents.Significance: These findings suggest that addressing gaps in communication and sensitivity, along with reducing insurance barriers, could improve the RTT diagnostic experience. This research suggests that there is a critical need for more compassionate, transparent, and resource-oriented care throughout the RTT diagnostic journey.