Cystinosis Foundation

The Cystinosis Foundation was established in 1983 with a mission to: educate patients, families and medical professionals about Cystinosis; provide emotional support to those coping with this ultra-rare condition; encourage and support research for improved treatments and a cure; and mentor the establishment of support groups in other countries. The Foundation carries out its mission through the publication of newsletters and brochures, and the organization and hosting of unique educational family conferences that include medical professionals, including the International Cystinosis Congress. Our activities and services include: Providing Parental Support - We provide parents and families with information, referrals to local patient support groups, newsletters and invitations to Foundation-sponsored conferences/events. We also mentor the establishment of support groups around the world. Education - We offer the general public and the medical profession educational and networking conferences. Advocacy - In 1983 Jean Hobbs Hotz, Founder and President of the Cystinosis Foundation, actively encouraged Congress to pass the Orphan Drug Act. The Foundation continues to serve as an advocate for Cystinosis patients and other members of the rare disease community by participating in visits to Capitol Hill, including sponsoring a Capitol Hill Day for Cystinosis in 2013. Research Support - The Foundation has raised funds to promote research on causes of and treatments for Cystinosis. Research funding support in the 1980s and early 1990s contributed to a better understanding of Cystinosis. Direct testimony and advocacy by President Jean Hobbs-Hotz led to access to the first effective treatment for this ultra rare disease. Affiliations - The Foundation is a member of the National Organization of Rare Disorders (NORD), EURODIS, and Genetic Alliance, organizations that further the cause of individuals coping with rare diseases.