The “Life Costs” of Living with Rare Genetic Diseases

Economic cost analysis of the impact that a treatment or therapy has is arguably successful insofar as judgments can be made about who will benefit the most from a particular therapy. By definition this utilitarian analysis excludes those whose disease might not be “common.” This lack of social accountancy prejudices healthcare systems not only in terms of treatments but also in terms of support, capacity and knowledge made available to ameliorate the “life costs” of those living with rare diseases such as Huntington’s disease (HD) or phenylketonuria (PKU). Although life costs also apply to those living with the crippling effects of common disease, we argue that the social, emotional, psychological, and financial costs for those living with life-threatening or -affecting rare genetics conditions are particularly attenuated because of the assumptions about who would benefit (the case of PKU) and the nature of that benefit (the case of HD).