The Importance of Advocacy in the RASopathies

As the definition of a RASopathy expands, RASopathies Network maintains a core focus on Noonan, cardio-facio-cutaneous, and Costello syndromes. While each of these syndromes carries its own traits, these particular RASopathies share cardiac, dermatological, orthopedic, gastrointestinal, and developmental issues. The journey for families, from seeking a diagnosis to framing their loved one’s syndrome through a molecular pathway lens, bears witness to the evolution of how genetic syndromes are interpreted in the field of genomic medicine. The aim of this chapter is to (1) provide a history of the RASopathies Network and how fortuitous opportunity played a role, (2) elucidate the importance of including families to better understand the syndromes and find effective therapies, and (3) share how a rare disease patient organization is working to improve the lives of individuals and families affected by a RASopathy. The Network’s approach is to provide a crucible from which effective interventions are developed. This includes organizing biennial international symposia to bring together families, clinicians, and researchers; strengthening RASopathies research network participation; plannning and discussing progress toward therapies and interventions; hosting webinars to highlight various topics across the spectrum of syndromes; and raising RASopathies research grant funds with the generosity of families and assistance of Penn Medicine Orphan Disease Center’s annual Million Dollar Bike Ride.