conditions are diagnosed in childhood and then affect individuals for decades. Many individuals require extensive, long-term supportive care that is not covered by Medicare or private health plans, although Medicaid may cover such services for those who qualify. Even for relatively well-off individuals and families, the expenses associated with life with a rare disease can be a significant burden.

For both individuals and family members, the economic impact of rare diseases extends to lost productivity, lost wages, or the inability to find manageable work with flexible leave, health insurance, and other key benefits. Notwithstanding laws against discrimination based on disability or genetic information (notably the Genetic Information Nondiscrimination Act of 2008, P.L. 110-233), employers may fear the consequences of hiring a person with evident health problems and may take health (including the health of an employee’s family members) into account when making hiring or layoff decisions. For small employers, a single health plan member with extraordinary medical costs can lead to unaffordable premiums for the entire group of employees. As described in Chapter 6, if it survives calls for its repeal, the Patient Protection and Affordable Care Act of 2010 (P.L. 111-148) should make access to insurance easier for many people with rare conditions and should limit certain restrictions on coverage, for example, a lifetime cap on benefits.

I did not choose this work as my career; the vocation was bestowed on me more than 14 years ago when my two children were diagnosed with a genetic disease called pseudoxanthoma elasticum.

Terry, 2009


The physical, emotional, and financial impact of a rare disease on individuals and families has motivated many of them to try, in turn, to have an impact on the disease and others affected by it. They have joined together to form support and advocacy organizations—some focused on individual conditions, others encompassing a number of related conditions, and yet others such as NORD and the Genetic Alliance acting as umbrella organizations and advocates. Although not focused solely on rare conditions, the Genetic Alliance convenes a range of activities to help rare disease and other groups develop, function effectively, and collaborate. NORD likewise provides assistance to rare disease groups, including newly organized groups.

Some groups (e.g., the Vasculitis Foundations, which was founded in 1986 as the Wegener’s Granulomatosis Association) have moved from a concentration on a single condition to a focus on a group of related conditions, some of which previously had not had an organized voice. Such movement reflects both the biological reality that knowledge about one condition may be more generally relevant and the organizational reality



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