that consolidation can bring operational efficiencies and greater public recognition (see, e.g., Hoffman, 2006).
Many advocacy organizations take on multiple roles, including providing information, supporting patients and families in obtaining needed clinical and other services, offering emotional support, educating clinicians, shaping public policy, and promoting research. Patients, families, and advocacy groups have been a driving force in public policy. Notably, they pressed for the passage of the Orphan Drug Act and the creation of the Office of Rare Diseases Research at NIH. They likewise were active in working for passage of the Genetic Information Nondiscrimination Act and creation of the compassionate allowances program that allows people with a number of rare conditions to qualify quickly for Social Security Disability Insurance (see Chapter 6). Some rare disease groups and their umbrella organizations argue that efforts to influence public policy should take this broad approach rather than focus on funding or other policies aimed at individual rare diseases (see, e.g., Farmer, 2009; Terry, 2010).
As is true for organizations associated with common diseases such as breast cancer or cancer generally, rare disease groups often aim to engage and have an impact on the broader community through public awareness and fundraising efforts. Walks, runs, bike races, telethons, celebrity appearances, and other events involve people in highly visible activities that draw attention to rare conditions and the toll they take. In addition, NORD and other groups promote awareness of rare diseases generally, including through activities associated with Rare Diseases Day.
Of particular relevance for this report, individuals, families, and advocacy groups have also mobilized to promote the study of rare diseases and the development of products to treat these diseases. In some cases, research is the primary focus of advocacy organizations. Although groups may focus mainly on raising money for research and advocating for more public funding for research, some take more active roles. For example, they may work with researchers by organizing group members to participate in clinical studies, provide personal data for natural history studies, contribute tissue samples, and volunteer in other ways (see, e.g., Farmer, 2009; Frohnmayer and Frohnmayer, 2009; Terry, 2009). They also can direct research to issues of most concern to patients and families (Nijsten and Bergstresser, 2010). The Office of Rare Diseases Research at NIH has made involvement of advocacy groups an important feature of the Rare Diseases Clinical Research Network.
Organizational strategies and agendas for supporting research vary depending on the state of knowledge, the organization’s financial resources, the concerns of organizational founders, and other factors. As discussed further in Chapters 4 and 5 and Appendix F, some patient organizations have promoted partnerships with industry and public agencies and devised