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  • 1. 1 QuickTime et un dcompresseur GIF sont requis pour visualiser cette image. Rare diseasesFrom recognition to treatment: role of the AFM EDITORIAL p2AFM AN ORGANISATION IN THE FIGHT AGAINST NEUROMUSCULAR DISEASESp3 A patients association at the heart of rare disease issues A general interest strategy accompanied by an innovative approachFINDING A CUREp6 Developing tools and programmes useful for rare diseases Developing innovative treatmentsIMPROVEMENT OF PATIENTS DAILY LIVESp 12 Coming out from oblivion Attaining full citizenship Fighting misdiagnosisCONCLUSION p 17APPENDICESp 19 Translated by David Kerridge from the AFM document Maladies rares de la reconnaissance aux thrapeutiques : le rle de lAFM.For more information: AFM-BP 59- 91002 Evry Cedex France Phone: +33 1 69 47 28 28 www.afm-france.org -

2. 2EDITORIAL Because they affect nearly three million people in France today, rare diseases have become a real public health issue. Despite their wide diversity, they share many problems, and if these problems were tackled by the public authorities within an overall policy of research and treatment, it would allow nearly 5% of the population to come out from oblivion. Thanks to French Telethon donations, it is now nearly 18 years since the AFM has been committed to an innovative policy of research and assistance for patients. Eighteen years of combat and initiatives for neuromuscular diseases through a general interest strategy which has resulted in outstanding advances all round, for rare genetic diseases as well as more common diseases. The AFM has come a long way: today, rare diseases are recognised as a real public health issue, and little by little research is being organised and new hopes for treatments are emerging. But we are still confronted with an obstacle course: misdiagnosis, insufficient research, difficulties with bearing medical costs, accumulation of exclusion factors etc. There is still a lot to be done and although the patients associations play a motor role, they cannot act alone. They must have the full support of the public authorities. Now that a political will seems to be emerging to set up a national plan for rare diseases, we are redoubling our vigilance to ensure that this plan is both well- structured and financed for the long term. At the AFM we have taken on the combat of patients affected by neuromuscular diseases, all of them rare and progressive, often seriously disabling and mortal. We are doing everything we can to ensure that this political will on behalf of the public authorities marks the beginning of a new era for these patients. Laurence Tiennot Herment President of the AFM 3. 3- AFM AN ORGANISATION IN THE FIGHT AGAINSTNEUROMUSCULAR DISEASES The AFM is born from a new generation of patients and patients relatives who have decided to take their destiny in hand and to put up a resistance to the disease on all fronts. Engaged in scientific research as well as in assistance to patients, it acts independently and is guided solely by the interest of the patient. A PATIENTS ASSOCIATION Created in 1958 by patients and patients relatives, the AFM set itself a single aim: to conquer neuromuscular diseases. It is this refusal to accept fate and a determination to make every effort to fight against these rare, chronic, progressive and often fatal diseases which has determined the strategy of the Association since its founding. Faced with the isolation and distress of sick persons and their families, the AFM has developed an innovative strategy both in the field of research as well as in assistance to patients.If the Association now figures among the major actors in research and health in France, it is because this strategy was rooted in values first laid down by its founder members and perpetuated since: against oblivion and ignorance: revolt a founding value of the AFM is therevolt of relatives who refuse fate and resignation to make choices: will and conviction since its creation, the AFM hasmade every effort to carry out its will and repeat its conviction that cure ispossible to succeed: rigour and effectiveness this is the golden rule that the AFMhas always set itself as it works in highly complex fields with limited andunpredictable resources accountability: transparency this is more than just a requirement,transparency is an ethic. Ever since the first Tlthon, the Association hasalways been committed to giving a faithful account of the use of itsdonations. AT THE HEART OF RARE DISEASE ISSUESFor a long time forgotten by science and medicine and ignored by the health system, neuromuscular diseases are at the heart of rare disease issues. In the 1960s, when the families first decided to group together within an association, every day they had to face up to a real obstacle course : misdiagnosis, a quasi- absence of competent consultation, a medical profession that had given up, and non-existent research or support for medical costs. 4. 4Under the impetus of the AFM, research has emerged, specialised consultations exist, diagnosis has been refined and treatments have been developed. But even if the road to recovery is long and hard, the AFMs action has demonstrated that it is possible to do something.Today, neuromuscular diseases represent some 200 different diseases among the 6 to 7000 rare diseases. A disease is considered rare if it affects fewer than one person in 2000. Rare diseases are very diverse and the majority are of genetic origin. They are responsible for more than 10% of the mortality of young people (less than 15 years old). They can prevent movement (myopathies), sight (retinitis), hearing (deafness), breathing (cystic fibrosis), understanding (fragile X syndrome) etc. However, these diseases have certain things in common there is no curative treatment, it is difficult to obtain diagnosis and treatment, there is an absence of research but social exclusion is common. A total of about 3 million French people and 20 to 30 million Europeans are concerned by rare diseases. A GENERAL INTEREST STRATEGY In order to be more effective in its fight against neuromuscular diseases, the AFM has chosen to intervene beyond the simple neuromuscular disease level so as to take on the more comprehensive issues of genetic and rare diseases. In fact, it is by advancing our knowledge about the wider groups of pathologies to which neuromuscular diseases belong that the Association has the best chances of getting results.Because neuromuscular diseases affect the muscle and the neurone, the AFM has set out to uphold myology (the science and medicine of the muscle) as a discipline in its own right, like cardiology, immunology etc.Because neuromuscular diseases are of genetic origin, the AFM has developed general interest tools, means and know-how to speed up understanding of genetic diseases and open the way to treatments originating from genetic knowledge.Because neuromuscular diseases belong to the group of rare diseases hitherto neglected by the public health system, the AFM has developed an overall strategy for the recognition of these patients who were excluded from support for medical costs and from social and economic life.Because neuromuscular diseases are chronic and seriously disabling, the AFM along with other associations is fighting for the recognition of the right of each citizen to have the means at their disposal to compensate for their disabilities, whether they are physical, intellectual or sensorial. ACCOMPANIED BY AN INNOVATIVE APPROACH 5. 5Faced with dead-end situations, the AFM positions its courses of action within a logic of innovation. Whether in the scientific or social field, its approach is the same: look for new solutions, develop them alone or in partnership, then after validating them encourage the State and institutional or industrial partners to take up the challenge and widen its benefits.The role of the Association is not to be a substitute for the public authorities even all the Telethon donations would not be sufficient for this but to be an impetus, a pioneer and an incentive. 6. 6FINDING A CUREEvery initiative of the AFM, from fundamental research into the muscle to the development of innovative treatments and including molecular biology, is undertaken with a single objective: cure. Because the disease can still be a killer, the AFMs strategy aims to reach this objective as quickly as possible. Through its different forms of targeted action, the AFM is at the origin of a real medical revolution generated by a better understanding of genes. Thus it plays a pioneering role in areas where both State and industry are absent. It plays this role by supporting and encouraging both work of general interest in the field of drug development and in the research for innovative treatments. DEVELOPING TOOLS AND PROGRAMMES USEFUL FOR RARE DISEASESThe integrative policy of the AFM has led it to support or take charge of the development of general interest tools and programmes that are of use to all rare genetic diseases, including neuromuscular diseases.DNA and tissue banks: collecting and storing the raw material of research Like 80% of rare diseases, the majority of neuromuscular diseases are of genetic origin. Finding the genetic anomaly responsible for a disease necessitates having the DNA of the members of the same family (as well as other families) in order to search for a link between the genome, the modifications and the disease.Therefore, as early as in 1989 the AFM launched its first campaigns for samples aimed to collect the DNA of patients and their families. It contributed to the setting up of banks where the collected DNA could be preserved for research purposes. Today, 14 DNA banks have benefited from the support of the AFM in metropolitan France, French overseas territories, Europe and North Africa. With more that 50 000 samples from nearly 20 000 families, the bank of the AFM laboratory, Gntho