SITUATION
Effective conversations among family members are vital for early diagnosis and management of ultra-rare diseases. However, stigma and discomfort often prevent these discussions, delaying diagnosis and treatment. Empowering families to openly discuss these conditions is a crucial step in identifying hereditary risks and ensuring timely interventions.

APPROACH
We collaborated closely with the patient community to identify barriers to these conversations and co-create a solution that encourages meaningful dialogue. Key steps included:

• Qualitative Research: Behavioral analysis to understand the underlying challenges and identify strategies to encourage open communication.
• Co-Creation Workshops: Engaged patient group representatives across Europe to develop the program’s scope, materials, and objectives collaboratively.
• Prototype Feedback: Online community feedback on prototype visuals, tone, and language for materials such as websites and leaflets.
• Material Validation: Conducted surveys to refine the final designs and ensure relevance and clarity for the target audience.

OUTCOMES
The result was a comprehensive patient support program designed to empower individuals to initiate conversations with their families and healthcare professionals. Key components included:

• Educational Content: Information about the disease, its inheritance patterns, and its impact.
• Conversation Tools: A planner and checklists to build confidence in initiating discussions.
• Engaging Materials: Interactive resources such as a website, patient videos, and visually appealing leaflets tailored to diverse audiences.

This initiative created a foundation for meaningful dialogue, helping patients and families take proactive steps toward diagnosis and treatment in ultra-rare diseases.