“Globally, some 7,000 rare diseases have been identified.1 Compared to widespread conditions that strike hundreds of millions of people, rare diseases can lack similar levels of interest amongst the general public and medical/research communities. Most of these individual diseases receive little attention because they affect only thousands – or sometimes only hundreds – of patients worldwide.2
Yet looking at rare diseases as a collective entity, we are able to realize their expansive impact. Collectively, there are approximately 30 million people living with a rare disease in the US and another 3.5 million in the UK.3,4 Around the globe, the rare disease community is estimated to include 350 million people.5 And rare diseases touch more than just the patient. These conditions also impact families, friends, caregivers, physicians, payors, and society as a whole.
There is an urgent need to understand the state of rare diseases and the current gaps in care and support. To address this need, in January 2013, Shire conducted online surveys over a four-week period among US/UK rare disease patients and their caregivers, physicians treating patients with rare diseases, payors who handle reimbursements for healthcare plans and government/institutions, and thought leaders in the rare disease space. Surveys were fielded through market research agency ORC International and also distributed by advocacy group partners Global Genes and the Genetic Alliance UK.”