UNSOLVED MYSTERY (DIAGNOSIS): TREATING RARE DISEASES AS A PUBLIC HEALTH CRISIS

Rare diseases conditions that affect no more than 200,000 people-impact an estimated 30 million Americans and 400 million people globally. When rare diseases are examined individually, there are often scarce public health resources available. The result of this reality is that rare disease patients do not have the same opportunities to medical treatments and developments as those with more common conditions. This Note is the first assessment of addressing rare disease through a public health lens, including through public health law and policy. This framework aims to improve the epidemiologic data surrounding rare diseases, create shared databanks for research and development of therapeutics, develop policies to promote innovation, and use legal interventions to ensure equal rights for rare disease patients. Epidemiologic data on rare disease is scant and a research agenda to clarify rare disease prevalence and incidence, as well as demographic distributions, is vital to understand the scope of this issue. Economic approaches to rare disease therapies have fallen short of providing desperately needed interventions for the vast majority of rare disease patients. Policies, such as creating research initiatives to give researchers access to biological data, are lacking and deserve refreshed attention. Finally, legal principles, such as protection of patient information and availability of remedies in medical malpractice suits, should be altered to better serve rare disease patients. Until a public health approach using this framework to rare disease is realized, patients with rare diseases will continue to face a world that fails to address their needs.