A rare disease is defined as a disease affecting less than one person in 2,000, ie in France less than 30,000 patients per pathology. About 7,000 rare diseases are currently described, affecting nearly 3 million French people. Every February 28 is dedicated to the International Rare Disease Day. The opportunity to raise awareness of these multiple and little-known diseases, often neglected by research on new treatments.
Why a world day dedicated to rare diseases?
World Rare Disease Day coordinates all the actions carried out around the world in favor of patients affected by one or more of these pathologies, the common characteristic of which is that they only affect a small number of patients. Created in 2008, coordinated by EURORDIS and more than 65 patient organizations around the world, it is aimed at patients, but also at the general public, health professionals, researchers and public authorities.
The purpose of the International Rare Disease Day is to raise awareness, promote research, improve diagnosis and care and facilitate the support and daily life of patients. All rare diseases are taken into account in their diversity of mechanisms, symptoms and severity, some being better known than others to the general public.
What are rare diseases?
Rare diseases include a vast set of very different pathologies. But 80% of them are of genetic origin and half develop in children under 5 years old. In the majority of cases, these diseases are severe, chronic and have a major impact on the health and quality of life of patients and their families, with:
- A motor, intellectual or sensory deficit in 50% of cases;
- A total loss of autonomy in 9% of cases.
Rare disease is sometimes synonymous with orphan disease, i.e. a disease for which there is no treatment. In France, the Téléthon® aims in particular to promote research once morest some of these diseases, in order to one day be able to offer effective treatments to all patients, in particular thanks to progress in gene and cell therapy. In general, pharmaceutical research focuses more on diseases affecting more patients.
National plans
In France, 23 “rare disease” health sectors exist, intended to improve the knowledge and training of health professionals, and therefore the diagnosis of rare diseases and their management. Indeed, only one out of two people has a precise diagnosis of their pathology, a diagnosis which is only made following 5 years for 25% of patients. Thanks to successive national “rare disease” plans, more and more reference centers for the management of rare diseases are labeled. No less than 109 centers just for the period 2017-2022.
These centers make it possible to make a diagnosis more quickly and to define and then adapt an optimal course of care for each patient. For example, a patient can condense all the follow-up examinations and consultations for his pathology into a single day, limiting their impact on his daily life. The existence and skills of these reference centers absolutely must be known to primary healthcare professionals, so that patients and their families can be referred to them. The impetus of the associative movement, very organized in France, has made it possible to draw up several national plans for rare diseases, the objective of which is to improve the recognition of rare diseases and support for patients.
Published on February 27, 2020 by Alexana A. Updated by Estelle B., Doctor of Pharmacy, on February 24, 2023.
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