Strategy

Research.
Contrary to popular belief, rare diseases and genetic diseases affect more people than we may think. They affect 4 to 6% of the population, i.e 3 million French people and 25 to 30 million Europeans. Eighty per cent of these diseases have a genetic origin.


As early as 1987, when AFM realised that the amount of knowledge necessary to cure just one disease could benefit several other diseases, it adjusted its rationale and got involved beyond the field of neuromuscular diseases -which are all rare diseases- in the problems of genetic diseases and rare disorders in general.

Although each of the 6,000 to 7,000 genetic diseases has its own specific problems, they have many problems in common such as difficulties in benefiting from a curative treatment, getting a correct diagnosis and, in the end, exclusion of the patient from social life. This is why it is imperative to have a transversal and overall vision in order to implement efficient policies in the areas of research, drug development, information and disease management. Since 1988, with proceeds from the Telethon, AFM has implemented an original strategy dedicated to the problems of rare diseases:
- The development of tools for genetic research in order to further our understanding of the origin of these diseases and to develop therapeutics. This has led to the creation of the Généthon research center, to the publication of the first human genome maps and, subsequently, to the discovery of the genes responsible for more than 700 diseases. In terms of research, gaining a critical mass of knowledge is the only way to generate progress for patients (for further information, please click on Research).

- Actions to promote autonomy and citizenship of sick and disabled persons, such as the May 1999 demonstration which has achieved concrete results :the creation of the Autonomous Living Plan. In terms of management and citizenship, it is also necessary to gain a critical mass of knowledge, which is the only way to solve the problems patients experience in their everyday life.

- An overall strategy to provide information on rare disease problems, raise awareness and bring about changes in the health system.

Today, a solidarity movement is taking shape and growing bigger, particularly within Alliance Maladies Rares (Rare Diseases Alliance) and Eurordis, and new synergies are developing within Plateforme Maladies Rares (Rare Diseases Platform).

These years of struggle and action on behalf of neuromuscular diseases through a general interest strategy has found expression in significant advances for all rare genetic diseases and even for common diseases. We have come a long way – rare diseases are finally recognised as a real public health challenge and little by little research is being organised and new therapies are emerging. But many obstacles remain – diagnostic error, insufficient research, patient management difficulties etc. Although patients’ associations have a major role to play here, they cannot act alone. In this field, public investment is vital.

At a time when a new political willingness is emerging to outline a national plan for rare diseases, we must ensure that this plan is structured and financed on a long-term basis.
 


Update 2006/09/12
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