What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare

Abstract

Background Growing efforts are made to improve the situation of persons with rare diseases, but the specific nature of these disorders remains unclear.

Living With and Treating Rare Diseases

“…The condition of their disease being rare is not described or referred to as the most problematic element. A French study has pointed out how these patients do not perceive the aspect of rarity as the greatest source of difficulty, so long as they have found health professionals who are able to recognize their requirements (Huyard, 2009).…”

“…However, the information patients find independently is not always understood, and if it is not accompanied by explanations, it can be disorientating. In literature, it is reported how often patients would like a guide to interpret the information they collect, expecting to receive explanations that they can understand (Huyard, 2009) The professional health care participants show as patient can have access to a mass of information which he is not able to select and it can lead to creating false expectations. They report how their approach is to propose that they can act as mediators, inviting the patient to discuss with them what they have found so that they can understand it better.…”

General and Health Information Challenges of Patients With Rare Diseases: The Importance of Health Information Provision and Web Sites for Locating Rare Disease Resources

“…Patients report preferring and trusting their physician over all other sources of information about their conditions (14,15), but patients often report being frustrated with the lack of information provided by their physician and the lack of information about their conditions in general (9)(10)(11)(12)16). Even though patients prefer and trust their physicians, due to lack of information provision from their physicians, patients often turn to other sources, including the Internet, to find information about their conditions.…”

“…This study also found that rare disease patients' health care experiences would be improved if health care providers met what patients viewed as a moral expectation by providing diagnosis disclosure and providing information to the patient about the condition (11).…”

“…Even though rare disease patients' information needs are often high, many rare disease patients have difficulty finding information about their diseases (7)(8)(9)(10)(11)(12). To emphasize the importance of information provision to patients with rare diseases, the Director of the European Cancer Patient Coalition says in a blog entry:…”