Patient Insights Across Rare Diseases: Forging better partnerships through collective advocacy

Executive summary

Rare diseases are those that affect fewer than 1 in 2,000 people in Europe. Rare disease patients, their families and support networks face a disproportionate struggle for knowledge, advocacy, and options for treatment compared to more traditional diseases. This places a heavy personal and financial burden on individuals and families. The rare disease community is actively engaged and uniquely motivated to find valuable solutions to streamline both the clinical trials and approval processes to expedite much needed treatments to market. They are advocating for increased and sustained activation of the stakeholder patient communities, for better collaboration to drive support, funding, and experience and ultimately, better exposure and partnership to the researchers and companies key to the development of potential therapies.

In this paper, we describe the results of a social media listening exercise designed to look across multiple rare disease areas to show the extent to which there are important themes and commonalities across these communities. Using a robust methodology, we listened to the voices of rare disease patients and identified five critical themes of unmet need. We consider each theme and share specific and actionable recommendations to highlight what pharma and healthcare can do to improve the lives of rare disease patients.

The narrative and research are overlaid with the patient voice and perspective of Nick Sireau, founder of Findacure, a not-for-profit association committed to partnering with industry on behalf of rare disease patients and their families.