Today, more than 300 million people around the world live with a rare disease. About 70% of these diseases appear in childhood. On average, it can take about five years to receive an accurate diagnosis of a rare disease, even in countries with the most sophisticated health systems. A range of obstacles contribute to these delays, including limited awareness of rare disease, a global shortage of genetic and rare disease specialists, minimal rare disease education or training for healthcare professionals, insufficient infrastructure, and lack of appropriate testing tools—among other factors. 

The impact of waiting years for a rare disease diagnosis can be devastating, often resulting in a more severe and debilitating evolution of the disease, accelerating potential co-morbidities or even mortality, delaying life-saving treatment, and causing significant socioeconomic and mental health challenges for families in the early years of a child’s life.

The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease is a multidisciplinary group of rare disease advocates, researchers, physicians, and innovators from across the globe working to end this long and arduous diagnostic journey. 

Our vision is a clear path to a timely, accurate diagnosis for all children.

The roadmap we developed in our first year included actionable recommendations to address barriers along the diagnostic pathway, with an emphasis on technological solutions. More recently, we have expanded our mission to harness the power of innovation broadly to accelerate the time to diagnose a rare disease for children around the world.

Ending the diagnostic odyssey in rare disease is an ambitious undertaking—and one that cannot be accomplished by any one discipline or sector. Fortunately, there has been strong momentum in the rare disease field in recent years. Global policy changes—such as the inclusion of rare diseases within the United Nations Political Declarations on Universal Health Coverage in 2019 and 2023 and the first-ever United Nations Resolution on rare diseases released in 2021— have galvanized the rare disease community. The time is ripe for countries and health systems to transform how they help families navigate the complex search for a diagnosis and find answers more quickly. 

Our members are committed to global collaboration to bring creative recommendations and learnings to the field to improve the lives of children living with a rare disease. Throughout the year, we will be working closely with the broader rare disease community to build a resource compendium and to highlight examples of pioneering efforts to end the diagnostic odyssey. We welcome any suggestions you may have and look forward to hearing from you. 

Sincerely,

The Global Commission Co-Chairs