The global role of patients, advocates and caregivers in rare diseases

Abstract

Despite over 7000 known rare diseases, reliable information regarding their prevalence, history and treatment options is scarce. To address this gap, patients, advocates, and caregivers (PACs) have become increasingly involved establishing disease-specific advocacy groups to share knowledge and best practices. PACs have become repositories of knowledge and experience regarding the complexities of each disease and have matured into important resources for reputable information and support. The roles of the PACs continue to expand from understanding the basics of the disease to advising regulatory agencies on the utility of novel treatments and beyond. In this article, we explore the spectrum of roles performed by PACs and the benefits of partnering with them throughout their journey from diagnosis to disease management.