Living with a rare disease. Patients’ and families’ experiences

Living with a rare disease (RD) can affect individuals as well as their families and friends in multiple ways. There are many challenges that vary depending on the condition – from unexplainable symptoms in spite of many doctor visits, struggles with insurers to get access to expensive diagnostic tests, a lack not only of established treatment options but also social support more generally.
RD are often characterized by an early onset that leads to chronic conditions that impact not only quality of life but also lead to a significant decrease in life expectancy. Given that patient experiences are still under-investigated and characterized by specific individual circumstances our DIPEx Module will help to capture the complexity and breadth of the challenges RD patients and their relatives are confronted with while identifying sources of support and empowerment.

In our project we listen closely to the stories patients with three different sets of rare diseases – metabolic, neurological and connective tissues disorders – tell us about their everyday lives, the care they receive and how they think it can be improved.
To broaden the insights of our interview study, we intend to work with patient organizations, patient representatives, and clinicians to define key issues around diagnostic and treatment delays, lack of available interventions, access to health and social care services as well as perceived psychosocial and economic effects.

  • Credits

    Financial support from the University Research Priority Program of

    the University of Zurich (URPP) ITINERARE – Innovative Therapies in Rare Diseases



    Sebastian Wäscher

    Sebastian Wäscher is a post-doctoral researcher in bioethics. After graduating in communication science, philosophy, and sociology at the University of Münster, Germany, he became a research assistant at the Institute for Medical Ethics and History of Medicine in Bochum, Germany. Since 2015 he is a member of the Institute of Biomedical Ethics and History of Medicine in Zürich and since 2019, he is a member of the DIPEx group.
    Sebastian has established a proven expertise in qualitative research methods over the past years. He conducted research in various field of biomedical ethics like, personalized medicine, end-of-life decision making, methodological questions of empirical-ethics, evaluation of clinical ethics support service, scientific responsibility, pregnancy and prenatal testing, and research integrity.
    Since 2021, he is the coordinator of the DIPEx module on rare diseases.

    Advisory panel

  • Help & Support

    Orphanet: The portal for rare diseases and orphan drugs:
    ProRaris. Rare Diseases Alliance Switzerland:
    Radiz – Rare Disease Initiative Zürich:

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