Pioneering new possibilities for the rare disease community

Rare Disease Day is a global call to act for more than 400 million people living with rare conditions and their caregivers.¹ It shines a light on persistent inequities: many patients spend around five years seeking a diagnosis and lose an average of 91 workdays annually.^2,3 Of the over 10,000 known rare diseases, 90% do not have an approved treatment, and 7 in 10 rare diseases start in childhood.^4,5,6 The day is a reminder that listening to those most affected and turning awareness into practical solutions is how we close the gap.

From awareness to action
Driven by a mission to change what it means to live with a rare disease, we listen to, and partner with the rare disease community to speed up access to diagnosis and equitable care.

• Reducing time to diagnosis:  Access to effective screening and diagnostic tools remains inequitable for many rare disease patients. We are collaborating with partners across the health care ecosystem to reduce the time to diagnosis and improve access to treatment by scaling current solutions and leveraging next-gen technologies. Effective genetic screening and diagnostic tools remain out of reach for many people with rare conditions, even though most rare diseases have a genetic basis. By accelerating detection and diagnosis, we can open a vital window for intervention before life-altering symptoms occur.  As the first platinum member of the BeginNGS^® consortium, we are working to expand access to newborn screenings and next-generation sequencing.
• Advancing access to care and treatment: Rare disease patients — regardless of where they live face significant obstacles to accessing quality health care and treatment. We are focusing on developing and delivering new treatments and serving the rare disease community in more parts of the world; bridging treatment gaps with alternative access programmes to improve equitable access to orphan innovation and care.
• Advancing health care policy and partnerships: Addressing health equity challenges will require policymakers and health care stakeholders to consider the unique circumstances inherent to rare disease drug development, diagnosis, reimbursement and implement policy solutions. Such solutions should support patient access to treatments by a health care infrastructure that encourages appropriate data collection and medical research, the use of real-world evidence and collaboration across communities.

Progress starts with patient and caregiver expertise, listening and putting lived experience at the centre.  When health systems, researchers and innovators integrate lived experience into decisions, from diagnostic pathways and trial design to care delivery and policy, solutions become more relevant and equitable.

Rare Disease Day and every day
Living with a rare disease is inherently inequitable.  Equity is built daily, and Rare Disease Day is a rallying point. Let’s unite patient communities, advocates, clinicians, researchers, payers, regulators and policymakers to share and scale effective solutions such as national rare disease strategies, sustainable funding and access to diagnosis and treatments.  By linking local leadership with international collaboration, we can accelerate earlier diagnosis and equitable care, so innovation reaches more people in more places.