The psychosocial effects of rare diseases on individuals and their families: The case of Von Hippel-Lindau (VHL) syndrome

Von Hippel-Lindau (VHL) syndrome is a rare, genetically inherited, and multisystemic disease that requires lifelong monitoring. Beyond its physical manifestations, the psychosocial burdens it imposes on individuals and family systems lead to significant consequences. Individuals living with VHL and their relatives face numerous challenges such as the diagnostic process, disease management, caregiving responsibilities, financial burden, access to healthcare services, family dynamics, and social exclusion. Particularly due to the risk of genetic transmission, feelings of guilt, anxiety, and uncertainty about the future are commonly experienced among family members, which directly affects quality of life. For this reason, addressing rare diseases like VHL requires not only a medical but also a holistic psychosocial approach. Within this context, the social work profession emerges as a fundamental discipline capable of responding to the multifaceted needs of individuals and families. The main objective of this study is to understand the lived experiences of individuals diagnosed with VHL and their first-degree relatives, the psychosocial challenges they face, and their perceived need for social work support, through their own narratives. In line with this objective, in-depth interviews were conducted with 17 patients and 23 family members using a semi-structured interview form. Some interviews were conducted face-to-face, while others were held online or by phone; audio recordings were made with participants' consent, and the research process was carried out in accordance with ethical principles. A phenomenological research design was chosen to explore the lived experiences of individuals affected by the disease. Additionally, the researcher's position as a relative of a person diagnosed with VHL contributed depth to the study both in terms of observation and in building trust with participants. Therefore, participant observation was also utilized as a qualitative veri collection method. The data obtained were analyzed using the MAXQDA 2024 software and evaluated through thematic analysis. The data were classified under multiple themes such as the diagnostic process, disease management, access to healthcare services, financial burden, redefinition of family roles, caregiver responsibilities, need for social support, psychological resilience, difficulties in accessing information, and anxiety about the future. In the discussion section, these themes were interpreted in light of current literature and evaluated within the context of the social work discipline. The findings indicate that rare diseases like VHL generate multidimensional social work needs at both the individual and family levels, and that the current healthcare system falls short in addressing these needs. Accordingly, various recommendations were developed in areas such as the active involvement of social workers in multidisciplinary teams, caregiver support, psychoeducation, strengthening social assistance mechanisms, and the implementation of rights-based policies. This study not only contributes to the visibility of individuals living with rare diseases but also opens new areas of intervention for the social work profession.