In January, some 50 American and European scientists gathered outside Paris in Lisses, France, for the second major Duchenne muscular dystrophy gene therapy conference jointly sponsored by MDA and its French counterpart, the Association Française Contre les Myopathies (AFM). The first such conference was held in November 1994 at MDA National Headquarters in Tucson, Ariz.

Pierre Birambeau, secretary general of the AFM, spoke movingly of the relationship between the two organizations, both leaders in the field of neuromuscular disease research and services to families.

"The gene for Duchenne dystrophy, this amazing discovery, is here because of the MDA researchers. The American researchers are no longer anonymous. They're colleagues, with universities behind them. People are going ahead and are sure to achieve therapies."

He went on to thank MDA for giving the AFM a precious gift -- the knowledge of how to put on a telethon. "The telethon was thought to be an American institution," he said. "Now it's in France because of MDA."

In 1986, Birambeau came to America to learn all he could about the MDA Telethon. He learned well. The AFM's first telethon, in 1987, raised $36 million. Jerry Lewis appeared on it, as he did in 1988, when it raised $37 million. Held the first week in December, the AFM telethon seems to have become a holiday giving tradition in France, raising $75 million in 1995.

But what is the AFM today? Where has it been, and what has it become?

SHAKING UP FAMILIES

The AFM began in 1958, a small organization with a handful of families in Angers, France, Birambeau says. "They didn't really do much until Bernard Barataud became president in 1980. He had a child with Duchenne dystrophy, and he shook up some of the parents." Barataud's son died in 1986.

Today, the AFM resembles MDA in structure. Thanks to the close relationship MDA and the AFM have had, the AFM covers the same 40 diseases and uses a similar central office and field office structure. The AFM now has 19 field offices throughout France and serves some 6,300 families.

A WHO VIEW

The AFM looks at disabilities the way the World Health Organization does.

WHO's view of disabilities puts the primary problem, called a "lesion," at the top of a chain of effects. The lesion can be a genetic defect, an illness or accident. To do anything about this kind of problem, research is necessary.

The next link in the chain is that of functional impact caused by the lesion -- for example, muscle deterioration. This level is usually best helped by medical management.

Next is partial or total reduction of a person's activity -- for example, loss of the ability to walk -- which is best addressed by providing technical aids that compensate for lost functions.

Finally, there is social isolation, best remedied by changing attitudes to allow for social inclusion.

Because France has a national health service, the AFM is able to concentrate its resources on research and other kinds of endeavors, such as technical and social support for people with disabilities. MDA, which operates in a country without a national health service, provides direct support to some 230 neuromuscular disease clinics, as well as paying part of families' costs for wheelchairs and sponsoring support groups and summer camps.

BASIC RESEARCH

Just about the time the AFM parents were getting shaken up, genetic research was being shaken up. Both forces shaped the future of the association.

Genetic research quickly became the primary basket into which the AFM put its funding eggs. The theme of its 1995 telethon reflects this continued emphasis: "l'audace d'y croire: des gènes pour guérir," which means "the courage to believe: genes for cure."

The AFM, in partnership with private business and the French government, houses two major genetics research facilities at its office complex in Evry. The world-famous GénéthonLaboratory is mapping the human genome (all human genes), in a way similar to that of the American Human Genome Project. The AFM set up Généthon in 1990 with a French foundation, CEPH (Centre d'Etude du Polymorphisme Humain, or Center for the Study of Human Polymorphism). Généthon's famous gene maps are used all over the world.

The other laboratory at AFM headquarters is known as TGS (for Très Grand Sequençage, or Large-Scale Sequencing). It opened last year and is a collaborative effort between the AFM and a French biotechnology company, Genset. Its purpose, slightly different from Généthon's, is to study the regions of DNA that regulate genes, turning them on in specific tissues. These regions, known as "promoters," are important in gene therapy because doctors want to be able to give people genes systemically (for example, by intravenous injection) but have those genes "turn on" only in the areas where they're needed (for example, muscle).

MEDICAL MANAGEMENT- AN ADVISORY ROLE

France's national health service meets basic needs, including surgery and equipment for people with neuromuscular diseases, explains Dr. Jon Urtizberea, a pediatric neurologist who directs the AFM's Department of Medical Affairs. However, he says, the system is strained, and the AFM steps in when necessary with direct help to patients.

The AFM considers 28 neuromuscular disease clinics in France to be its medical "network," Urtizberea says. The clinics may occasionally ask the AFM for financial support, but not much. The AFM does provide guidance to the clinics and to other doctors.

"We will not interfere in the relationship between patient and doctor," he says, "but we make recommendations to doctors in the form of what has been said by experts in the field." These experts are frequently convened at AFM-supported meetings on various aspects of neuromuscular disease management.

AFM-supported meetings, teaching sessions and publications have helped doctors take better care of people with neuromuscular diseases in several ways. One way, Urtizberea says, is helping doctors improve their ability to diagnose neuromuscular diseases. Ten or 15 years ago, he says, probably 50 percent of some diseases, like limb-girdle dystrophy, were misdiagnosed.

Early and proper bracing and spine-straightening surgery for children with Duchenne dystrophy and spinal muscular atrophy, as well as properly timed assisted ventilation and improved cardiac care, have been among the priorities of the association.

The AFM has recently begun promoting gastrostomy tube feeding (via a tube into the stomach through an incision) to improve nutrition for people who can't chew and swallow effectively.

Urtizberea has seen a change in attitude on the part of French physicians since about 1988, when the AFM first started gearing up efforts to improve medical care and showing people with neuromuscular diseases on its telethon. "The majority of medical professionals are now convinced they should take care of children with Duchenne dystrophy and spinal muscular atrophy," he says.

Earlier this year, the AFM announced the opening of the Myology Institute on the Paris campus of France's Salpêtrìere Hospital, established in the 17th century. Duchenne himself practiced at the Salpêtrìere in the 19th century.

The Myology Institute is a partnership of the AFM and the French government's health agency, INSERM, and is dedicated to a combination of research, teaching and medical care in the field of muscle disease. The institute's secretary general, Dr. Marc Bouillet, says patients will receive coordinated care from specialists in cardiology, physiology, pulmonary medicine, metabolic diseases and medical imaging. Medical doctors and other professionals will be able to take specialized courses in muscle pathology, and a clinical research program will study the relationship between muscle diseases and the genetic defects that apparently cause them, as well as test potential treatments.

RESTORING LOST FUNCTIONS

Restoring basic functions that allow someone with a disability to take charge of his own life is a real necessity, says Jean- Claude Cunin, director of the AFM's Technical Aids Department.

Cunin, who used to teach children with disabilities, says the French national health service doesn't cover the real needs of people with disabilities, still considering many of the more expensive technical aids to be luxuries. The AFM has tried to close the spending gap, giving an estimated $7 million to disabled people since 1988 for high-tech devices and service dogs.

Direct aid is only part of the picture, Cunin explains. The AFM finds out what already exists in the field of compensatory aids (even if the product is in a very early stage of development), then develops further those aids it judges most worthwhile. The association then helps people obtain aids on an individual level, while at the same time it works at the political level for government funding and at the social level for recognition of the necessity for such funding.

Cunin offers two recent examples - the multifunctional electric wheelchair and the intelligent mattress. The AFM found a prototype of a multifunctional wheelchair in development in Sweden. The chair can move a person from a sitting to a full standing position at the touch of a switch, as well as move him to a variety of heights and angles while still seated. It also allows someone to lie flat and transfer from the chair to a bed, and, of course, it allows movement from one place to another.

The AFM worked with the Swedish manufacturer to further develop the chairs and then began importing them into France. They sell for about $20,000 to $30,000 each, and they're not covered by the national health insurance program. But, Cunin says, if the AFM can help develop a larger market, the price will come down.

The AFM also worked with industry to develop the so-called intelligent mattress, which can be programmed to change the position of the person lying on it. This is especially vital during the night, when the paralyzed person needs to be moved perhaps 10 or 15 times to prevent bedsores and promote comfort -- making nights an ordeal for families. The intelligent mattress has pockets underneath it that alternately inflate and deflate. It can be programmed to do this automatically or at a signal from the person using it.

On a recent morning, about a dozen people with disabilities were testing new computer programs, another area of intense interest to Cunin's department. "Solitude," he says, "is the second enemy of myopathy. To be able to write, to exchange ideas with others, this is being an actor in one's life, not a passive participant."

OPENING SOCIETY'S DOORS

The French tradition has been to house people with disabilities in institutions, Cunin says. An important goal of the AFM has been to change this attitude, and the association works at the political and social level to integrate people with disabilities at all levels of society.

It recognizes that not everyone has the expertise or the energy to fight for his rights alone, even on the most local level. To help people get assistance from government agencies and other sources and move toward participation in the larger society, the AFM has stationed five or six specialized staff members in each of its 19 field offices.

The staff members function somewhat like social workers, says Jean-Louis Sarran, the AFM's regional services director. "They help people do what they cannot do, or maybe cannot do today.

"Maybe they've been to the Social Security office 10 or 15 times, and they just can't do it again, at least not today." The social worker from the regional office, like an MDA program service coordinator, can step in and help.

"From 1958 to 1986, there was no one responsible for a unified approach to family problems," Sarran says. Problems with schools, the workplace and so forth were left dangling, as families were "bounced from one professional to another." After the 1987 telethon, the regional service system was set up to help solve this kind of problem.