Unsolved Mystery (Diagnosis)

Treating Rare Diseases as a Public Health Care 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.

a MPH, Johns Hopkins Bloomberg School of Public Health, 2017; BA (Neuroscience), Amherst College, 2012. I have many to thank for making this work possible, including the University of Illinois Law Review and its editors for their expert revisions; Professor Pia Hunter for her review and guidance; Ms. Julia Jenkins and Mr. Ted Brasfield of the EveryLife Foundation for Rare Diseases for their dedication to the rare disease community and expert input and feedback; Ms. Sarah Gray of the National Cancer Institute for her review and feedback; to my parents who continue to maneuver through the rare disease diagnostic odyssey; to my wife for her support and encouragement; and to the broader rare disease community, whose strength and perseverance have no equal. This research was selected for presentation at the 2020 American Public Health Association Annual Meeting.

The full text of this Note is available to download as a PDF.