Exploring Family Dynamics and Ethical Considerations in the PAH Diagnostic and Therapeutic Journey: Insights from In-Depth Semi-Structured Interviews

<bold>Background:</bold> Establishing a diagnosis of a rare disease shapes patients' experiences and guides treatment. Research on family dynamics and ethical considerations in the diagnostic and therapeutic process for PAH remains limited. <bold>Methods:</bold> Stakeholders (n=63) from the NBR and PAH Cohort studies were recruited to take part in semi-structured interviews and focus groups, which were analysed thematically. <bold>Results:</bold> Key themes include lengthy diagnostic journeys, personality traits' influence on coping with PH diagnosis, family life complexities, and moral and ethical dilemmas. The diagnostic journey unfolds in five stages: health complaints, seeking help from GPs, misdiagnosis, relief with the correct diagnosis, mixed feelings about genetic results, and life with the disease. Following the diagnosis, participants embarked on a therapeutic journey, facing various challenges, including the disease's impact on professional lives, understanding the disease, shifts in communication dynamics with healthcare providers, therapeutic hurdles, and insurance issues. Family life complexities highlight the consequences of the diagnosis on family dynamics and planning. Genetic testing discussions reveal two attitudes: proactive advocates, seeing it as a chance for preparation, and gatekeepers, driven by a sense of responsibility, guilt and loose family connections. Building on these insights, we identified areas of unmet needs. <bold>Conclusions:</bold> The study highlights the need to enhance disease awareness, establish diagnostic pathways, and integrate genetic diagnostics. Leveraging clinical infrastructure can expedite the diagnostic process. A patient and family-centred approach improves the disease experience and contributes to advancing PAH understanding and management.