What You Should Know About Undiagnosed Rare Diseases

Organizations that support research and care for people with undiagnosed medical conditions

Cheyanna’s Champions 4 Children (CC4C) provides children with rare or undiagnosed conditions and their families in the Central Texas area with resources to help meet the child’s medical needs not covered by insurance or other financial assistance.

CURE (a Community for the Complex, Undiagnosed, Rare, and Extraordinary) brings together parents of children with undiagnosed, rare, and complex medical conditions to learn, share and support each other amidst their long journey.

Rare & Undiagnosed Network (RUN) is working to create a bridge between doctors, hospitals, researchers, and families across the globe to help bring whole genome sequencing to patients who need it.

Syndromes Without a Name United Kingdom (SWAN UK) is a non-profit, self-help organization, a registered charity, that promotes awareness of challenges faced by children and families affected by undiagnosed diseases.

The Wilhelm Foundation is an international nonprofit and NORD Member dedicated to advancing medical research and collaborative efforts to uncover the causes of undiagnosed conditions, aiming to provide answers to those in need.

Lastly, if you suspect you may have a specific rare disorder and are seeking a specialist qualified to diagnose it, consider reaching out to nonprofit organizations that serve patients with that disorder. Many maintain networks of qualified specialists that they can refer you to. Search by disorder in NORD’s Organizational Database to find an appropriate organization and their contact information.