Rare diseases
Examples of rare diseases are the following: osteogenesis imperfecta, Lowe syndrome, cri-du-chat syndrome. It is estimated that there are at least 8'000 orphan diseases today. These disorders are relatively ignored by the pharmaceutical industry, which makes them orphan diseases from a research perspective. They are also treatment orphans. The vast majority of these diseases are genetic in origin. Autoimmune and infectious disorders are rarer. However, the origin of a large number of these diseases remains unknown.
Rare diseases can affect anyone. Three out of four diseases present as pediatric conditions and are often associated with severe disabilities. However, the remaining fraction presents in adulthood, as late as age 30, 40, or 50. These may affect one’s ability to move (myopathies), to comprehend the world around us (fragile X syndrome), to breathe (cystic fibrosis), or to combat infection (immune deficiencies).
A rare disease is defined by its incidence, which is variable according to country. For example, in the United States, a condition affecting less than 200’000 citizens is considered rare (1/15'000 persons). On the other hand, in the European Union, a disease is considered rare if it meets the following criteria: chronic, potentially fatal, with an incidence less than 1/2000. In addition, these diseases present certain challenges when it comes to treatment-directed research. Therefore, it would appear that a rare disease in Europe may not be considered rare on other continents.
The challenges
Medical professionals often neglect to consider rare diseases as a diagnosis possibly owing to their ill-defined characteristics and the relative scarcity of affected individuals. Indeed, the diagnosis can remain elusive for a long time, and families go from doctor to doctor in search of answers.
Patients’ life expectancy may be affected and may be associated with a number of challenges and handicaps, which may be at the root of isolation and discrimination. In addition, administrative hurdles can abound for these patients, adding insult to injury. Fortunately, numerous Swiss societies exist to assist with some of these. Funding for research, however, remains a challenge.
Global approach to rare or orphan diseases
In the 90s, various governmental- and non-governmental associations underlined the need to create economic incentives for the pharmaceutical industry to develop and market orphan-drugs. In 1999, the European Parliament adopted a resolution aimed at incentivizing the pharmaceutical industry by means of fiscal incentives, experimental assistance, and proprietary legislation. While these changes may seem insignificant, they did represent a considerable step forward for patients.
In France and Europe, rare and orphan diseases are being considered in a new light. Indeed, rare and orphan diseases are now recognized as one of the public health priorities according to an ordinance dated August 9, 2004. Likewise, a national initiative on rare and orphan diseases was implemented for 2005-2008. This national initiative was aimed at recognizing the problem and guaranteeing patients diagnosis, treatment, and follow up. A second ordinance is due to see the light of day in 2010. Its main objective is to focus on the development novel therapies. In the wake of the French model, the European Union adopted a resolution demanding that European governments implement national strategies for addressing and managing rare and orphan diseases.
The time has come for Switzerland to act. Although the total number of affected patients nation-wide is low, ethical and public-health concerns demand these patients be recognized by political and economic endeavors.