SITUATION

There are over 7,000 rare diseases, many of which are classified as ultra-rare. The small number of patients, however, means that the challenges of rare and ultra-rare diseases are shared: identifying patients, accelerating diagnosis and improving access to treatment, whether that’s market access, initiating treatment or maintaining patients on treatment.

APPROACH

In working with many clients across different rare/ultra-rare diseases we wanted to address these challenges and ensure better outcomes. In doing so, we focused on two areas:

• Capturing experiences of patients and family members to gain a better understanding of what life with a 
rare/ultra-rare disease is really like and what can be done to better support and/or improve outcomes
• Identifying barriers and facilitators to diagnosis from an HCP perspective to design interventions that accelerate diagnosis.

OUTCOMES

Examples of work in rare/
ultra-rare disease:

• Removing the ultra-rare disease taboo to drive conversation and consequently diagnosis through a patient support programme
• Creating a patient-centric story to highlight the benefits of treatment to HCPs
• Co-creating a new market access approach for ultra-rare disease with patient groups and payers
• Supporting a more effective transition from paediatric to adult care to ensure that patients stay on treatment.