The Maison des Maladies Orphelines

Alain Bouvet, PhD

Association Française de Recherche Génétique

5 rue Casimir Delavigne, 75006 Paris France

Thank you

This meeting is devoted to Human Medicine in General and to Neurofibromatoses in particular. While the medical aspect is been examined by scientists, the  "HUMAN" aspect of human medicine is emphasized here.

Because people are treated and not just disease, apart from medical support, other important needs have to be fullfilled. This is exactly why the A.F.R.G is opening the Maison des Malades Orphelines.

But before I talk about the Maison per se and its activities, I would like to take you through its genesis.

In the French Association for Neurofibromatosis, after examination of the care already given by doctors, a few facts surfaced. There were everyday needs not met in medical institutions.

There was a need for understandable information, and while neurofibromatoses were rare in France, they were also seen in various countries in the world, and obtaining information from world-wide sources would be invaluable.

However, gathering information and keeping up with the latest developements is very time consuming and when you are a member of a family with neurofibromatosis, you do not have a lot of free time.

In addition to the need for information, there are needs for social and psychological support , sometimes just meeting other parents with the same problem or a similar problem and exchanging tips would be a great booster for morale.

Having a meeting place where children with special needs would be welcomed, would also be a great relief.

There is also a need fo recognition. But neurofibromatoses do not seem to be a  mediatic disease, and people have the feeling of being left aside.

This is not true of only families with neurofibromatoses but families with other genetic problems as well. More often, they feel isolated and neglected because their diseases are statistically rare. They are the orphans of the medical system.

Therefore, the French Association for Neurofibromatosis has decided in 1995 to create  a federation of orphan genetic diseases, that regroup at the moment thirteen different genetic diseases. The A.F.R.G-F.M.G.O. (Association Française de Recherche Génétique -Fédération de Maladies Génétiques Orphelines).

The A.F.R.G. has two pillars: Long-term research and its financing through the establishment of a foundation where patients decide the orientation of research, in areas less mediatic than gene mapping, gene cloning or gene therapy but that are as important (genetic diagnosis, genetic epidemiology, genotype-phenotype interaction).

and the caring for everyday needs. Hence, the Maison des Maladies Orphelines (MMO).

The MMO is a pilot project that requires cooperation between associations  to provide to patients, their families, their friends and their doctors, a place that is truly their own. To offer solidarity "you are not alone" is the first aim of the Maison des Maladies Orphelines. The associations and their members have their say in defining all the activities of their own House.

Other organizations are involved in mapping the genes, finding the mutations, making vectors for gene therapy. We are not involve in those research activities.

We are more concerned with the daily struggle each patient and his family have to endure  until a cure is found, one day. Therefore, a social network, support of people who understand what they are going through,is primordial. Help and assistance in dealing with the French Bureaucraty is needed and we are plannning to hire a social worker.

Psychological support or just to be listened to is also very important and we already have a part-time psychologist on-call.

The first activity in the Maison des Maladies Orphelines will be the Documentation Center:

This will be my role, to spend my time, giving information "à la carte" or taylor-made if you prefer. This a role I like, having been immersed in the world of genetics for 15 years, trying to get away from jargon. The best comment I got from a student I tutored was  " But the way you explain it, it is simple! "

Since we are just starting, I take this opportunity to respectfully ask you or other people you know to send us your reprints and your various publications on neurofibromatoses, in order to give up to date information on neurofibromatoses from the best people in the field.

The Maison des Maladies Orphelines will be opened in January, and will  immediatly operate as a meeting place for the patients, their families, their friends, and in that category, I include their docteurs and the public in general. All will be welcome.

In that house, people from the various associations will run their daily activities, meet people, exchange information or just relax. In fact, the documentation center has already acquired its most important set of books: cartoons for the children.

In addition, we will also provide orientation and assistance to administrative, social and medical procedures patients with special needs and their families have to go through everyday. A social worker and a psychologist will be there to offer help. There are no medical doctors, on staff, so we can only refer people for genetic counselling and treatment.

I know that time is running out and that I have to give the floor to the president of the American Association, Mr Peter Bellermann.

Therefore, I could not resist to conclude by quoting another great American President: Abraham Lincoln. What he said about a democratic government could apply to the Maison des Maladies Orphelines:

- Emanating from the People
- Run by the People
- For the Good of the People

Thank you.

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