Rare diseases, by definition, affect few people, tending to fall off the health and social policy radar screen. However, policy makers looking to contain long-run healthcare costs are doing themselves a great disservice by ignoring this category of diseases which affects some 30 million people in EU, a figure equivalent to the combined populations Belgium, Luxembourg and the Netherlands.
A rare disease is a disease that occurs infrequently or rarely in the general population. In Europe, for example, a rare disease is defined as affecting less than 1 in 2,000 citizens, and in the US as affecting fewer than 200,000 patients. Yet for combined population of 800 million, this could range from a few hundred to as many as 400,000 individuals for any single rare disease.
Despite this number, the rare disease patient is the orphan of health systems, often denied diagnosis, treatment and the benefits of research.
For patients, families and individuals affected by rare diseases, gaining access to services is often extremely difficult. Finding expert help is too frequently a matter of luck rather than a consequence of systematic planning by national health systems. Paradoxically, although any given rare condition may only affect a few hundred, there are between 5000 and 7000 distinct rare diseases identified to date, meaning that the number of families in need of health and social services is vast. And, because the diseases share a number of common characteristics, it is possible to develop public policy and actions to improve access to information, diagnosis, care, treatment as well as to promote biomedical research and R&D in medicines.
Rare diseases are often life-threatening. They are chronic, progressive, degenerative and disabling. People living with rare diseases face many common challenges, such as delayed or inaccurate diagnosis, difficulty accessing care and lack of knowledge or access to expertise. For the individual sufferer this is a disaster, and for an economy it represents a significant direct and indirect cost.
When a disease is diagnosed on time and managed well, people are often able to maintain a normal quality of life, meaning that timely diagnosis and correct treatment of rare disease patients is not only ethical but cost effective. Misdiagnosis and delays in diagnosis of rare disease patients often lead to increased expenses and waste for health care and social systems due to inadequate treatments. And the numbers can balloon quickly when a number of rare diseases are taken together.
Rare diseases not only affect the person diagnosed - they also impact families, friends, care takers and society as a whole.
For more information about rare diseases please watch the following documentary on rare diseases (english subtitles included).