• One in 17 people in the UK are affected by rare diseases, with approximately 3.5 million individuals struggling to access optimal care and specialist services.
• A third of UK rare disease patients endure waiting periods exceeding five years for accurate diagnosis, highlighting significant gaps in healthcare delivery.
• Children constitute 75% of rare disease patients, with 72% of cases being genetic, creating profound impacts on families' mental, physical, and financial well-being.