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Institute of Biomedical Ethics and History of Medicine (IBME)

Rare disease. Patients’ and families’ experiences

Living with a rare disease. Patient’s 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 the DIPEx approach 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. Our “patients as experts” approach with its open questions and narrative elements will ensure interview partners have enough space to flag any other issues they deem important, including messages to healthcare providers or politicians. This way we ensure we gather comprehensive, firsthand insights into individuals’ experiences, including new and unexpected findings that might otherwise be left unnoticed.

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.

Collaborating institutes

Together with a group of patient advocacy organizations and international experts from medicine, ethics, law, sociology, psychology and other disciplines we will discuss our findings and work towards recommendations for health care professionals and policy-makers, so they can continue to try and improve everyday life and care for people living with a rare disease. 

Involved DIPEx Researchers