Rare Disease Day: Opportunities for Librarians

Abstract

Over 7,000 diseases are considered rare in the United States, affecting 30 million people nationally (1,2). Patients affected by rare diseases not only deal with the attendant challenges of illness but also face many additional barriers due to having a condition that is rare. Rare Disease Day, observed every February 29 , the rarest day of the year, is a way to raise awareness of rare diseases and provide support for those affected by rare diseases. (In non-leap years, Rare Disease Day is held on February 28). Rare Disease Day provides an opportunity for librarians to provide resources and programming in support of this patient community. This article discusses resources and programming that librarians can develop in support of patients with rare diseases and highlights some rare disease programming conducted at one consumer health library in observance of Rare Disease Day. Rare diseases are sometimes referred to as orphan diseases. There are multiple definitions of rare diseases but according to the Orphan Drug Act, in the United States a disease is considered rare if it affects fewer than 20,000 people (2). In the European Union, a disease is considered rare when it affects fewer than one out of 2000 people (3). There are between 6000 and 8000 diseases that are considered rare. While only a few people are affected by any one rare disease, collectively rare diseases affect 30 million people in the United States and 300 million people worldwide (2). Approximately 70% to 80% of rare diseases have an identified genetic component (2), while other rare diseases may result from infections, allergies, or environmental causes. A rare disease is often present throughout a person’s entire life, even if symptoms do not immediately appear. Nearly 66% of patients impacted by rare diseases are pediatric patients, which not only negatively affects the patient but also impacts parents/families. Subsequently, parents take on the role of medical caregivers (3). Patients with rare diseases face many challenges during their healthcare journey. There is a lack of provider knowledge of many rare diseases. These patients are often misdiagnosed or often go undiagnosed. On average, it takes over 6–8 years for a patient with a rare disease to be diagnosed correctly, and often these patients are subjected to multiple medical tests often unnecessarily (4). Due to the limited