In the 1960s, there were no power wheelchairs and no lifts on buses, even in New York. Bathrooms weren’t accessible, many buildings lacked elevators, and children with disabilities were educated at home, if at all.

Leon Charash, a young doctor who had graduated from Cornell University Medical College at the age of 21 and had started a child neurology practice specializing in cerebral palsy and neuromuscular disorders on Long Island, was concerned about such issues.

Together with Ade Milhorat, a doctor who had founded the Muscular Dystrophy Association with a group of New York area parents in 1950, Charash had helped to start a preschool for children with disabilities. And in 1958, with the support of the new organization, as well as the New York City Board of Education and Department of Health, he’d started a program to allow thousands of disabled children access to the public schools.

So it was entirely consistent with Charash’s interests to speak out at a press conference in the mid-1960s. A respected researcher from Chicago announced that results of experiments in which mice were treated with anabolic steroids and a heart drug called digitalis would likely lead to a cure for muscular dystrophy.

As reporters eagerly scribbled away, Charash raised his hand. He had tested the treatment, he said, on one of two identical twins with Duchenne MD, giving the other a look-alike but inert treatment. After two years, he’d found no difference in their disease progression.

“I think you should be careful writing these articles,” he told a New York Times reporter, citing the risk of raising and dashing hopes in families.

Robert Ross, who headed MDA then, as now, noticed the young doctor and later mentioned him to Jerry Lewis. It turned out that Lewis had grown up with Charash in Newark, N.J., and even once fought over the same girlfriend. Charash soon found himself involved with MDA.

Leon Charash

At that time, most MDA-funded research took place at the Institute for Muscle Disease, a facility MDA owned and operated in New York. But by the 1970s the Association realized it needed to spread its wings and fund research wherever the best work was being done.

It established a Medical Advisory Committee to review grant applications for treatment-related research and a Scientific Advisory Committee to review applications for basic science projects.

Charash became chairman of the MAC in 1971, a position he’s held ever since, although he remains modest about his contributions. “I’m not a researcher,” he says, without embarrassment. “I’m basically a physician with 55 years of experience.”

Charash headed the MAC through the groundbreaking decades ahead, witnessing the molecular biology revolution, the identification of dozens of disease-related genes, and clinical trials of drugs, cell transplants and gene transfer strategies.

He became a member of the Board of Directors in 1994.

Charash’s long relationship with MDA has allowed him to see it grow from a decentralized, diffuse organization supporting local clinics in the 1950s and ‘60s, to a centralized agency that funds clinics across the country and research around the world.

He reflects on his MDA role with modesty and undiluted enthusiasm.

“I’ve met some wonderful people, and I’ve learned a great deal,” he says. “In fact, although I’ve made some contributions, I’ve done nothing in my professional life that remotely elevates me to the sense of satisfaction I’ve had working with MDA.”

In the 1980s, it was becoming clear that solving the puzzle of most of the disorders covered by MDA would require expertise in the nascent field of molecular genetics.

Rod Howell

Rod Howell, then chairman of Pediatrics at the University of Texas Medical School in Houston, was already an accomplished pediatrician and medical geneticist, specializing in disorders of carbohydrate metabolism.

In the 1970s and early ‘80s, when Howell was conducting research in two MDA-covered metabolic disorders — McArdle’s disease and Pompe’s disease — he began to come into contact with the Association.

“MDA was awakening to the fact that genetics was key,” Howell says of those days. In 1981, he was invited to join MDA’s Medical Advisory Committee, and in 1983, to chair its new Task Force on Genetics.

By 1987, scientists had decoded the root cause of MDA’s flagship disease, Duchenne muscular dystrophy, and the next several years would see the same process repeated for almost all of MDA’s disorders.

In 1989, after eight years on the Medical Advisory Committee, Howell moved to MDA’s Scientific Advisory Committee and became its chairman. The same year, Howell also became chairman of the Department of Pediatrics at the University of Miami School of Medicine, a position he held until 2003; and a professor of pediatrics, a position he still holds.

When he was elected to MDA’s Board of Directors in 1994, Howell says, he found that his role on the Board wasn’t so different from his administrative role at the university.

“Running a large medical school department involves many of the same issues that MDA had dealt with for some 30 years,” he says. In addition to budgets and pension plans, there’s making sure that nontechnical Board members understand some of the key scientific issues.

“My job as a Board member is discussing things with them and trying to keep them informed about what’s happening, but in a very succinct way.

“I understand what labs do, and I’ve spent much of my academic career explaining to smart donors how to identify a gene and what a gene does,” Howell says. “The major job of an academic chairman is translating the science of medicine to the practical world. People have given the medical school a lot of money, so they must be understanding something.”

Forty years of talking with his patients’ parents has also prepared him well for this translator role. “All parents want to know exactly what’s happening,” Howell says. “If you can’t explain it to parents, you don’t understand it.”

Howell, now 74, has recently taken on yet another role, as special assistant to the Director of the National Institute of Child Health and Human Development at the National Institutes of Health in Bethesda, Md.

“I don’t feel any different from when I was 40,” he says, rattling off a six-week schedule that included travel to four U.S. and three foreign cities.

“In the car business, if you have a wonderful car with a number of miles on it, you call it a cream puff,” he says. “Maybe I’m a cream puff.”

“Being asked to join the MDA Board was a great honor, and made me feel like I was part of the inner circle of the MDA family,” Stan Appel says. The neurologist graduated from Columbia University’s College of Physicians and Surgeons in 1960 and worked with MDA for some 25 years prior to being elected to the Board in 2003.

By then his long relationship with MDA had included 22 years of directing an MDA/ALS clinic in Houston for treating people with amyotrophic lateral sclerosis (Lou Gehrig’s disease). The clinic was established at Baylor College of Medicine in 1981, designated an MDA/ALS center in 1987, and relocated to Methodist Hospital in 2005.

Appel directed the general MDA clinics in Houston from 1977 to 2004, and served as a member of both MDA’s Scientific and Medical Advisory Committees in the 1990s. He remains on the MAC today.

Stanley Appel

On the Board, Appel sees himself in a liaison role, bringing the reality of neuromuscular diseases, particularly ALS, to the nonphysician members. In December 2003, shortly after his election, Appel suggested that the Board meet in Houston at the ALS Center.

“I said, ‘The Board members should experience firsthand how much their efforts mean to patients with neuromuscular disease,’” Appel recalls.

“That clinic day was a Friday, and we had a Board meeting in the clinic conference room. Business was conducted as usual, and then Board members were given a tour and introduced to our ALS patients and their families.

“We had a great meeting, and the Board members had a close-up look at how their efforts have made a difference.”

He notes that ALS patients are now living longer than at any time in the past, and that the 36 multidisciplinary ALS centers supported by MDA are the reason.

“It’s the combination of all the things we do rather than any single thing,” he says.

Last year, Appel was given the 2005 Forbes Norris Award from the International Alliance of ALS/Motor Neurone Disease Associations. This award, named for neurologist Forbes Norris, who died in 1993, has been given yearly since 1994 to professionals who have made major contributions to ALS patient care and research.

Appel’s research has taken a number of directions over the years, most notably looking at the possible role of the immune system in ALS. Laboratory research and clinical trials conducted by Appel and his colleagues in the 1980s and ‘90s established that, if a renegade immune system (the cause of several autoimmune diseases) attacks cells in ALS, it does so very early and in a way that’s not possible to detect or treat by the usual methods.

Appel’s more recent work has focused on the microglia, the immune system cells of the central nervous system, and on how they may become activated and dangerous on the road to ALS.

“We’ve learned that motor neurons don’t die by themselves,” he says. “It’s a communal response, with inflammation and the immune system playing a role.”

Since he’s joined the Board, Appel has seen his goal of fast-tracking ALS translational (lab to clinic) research receive more attention.

“The Board is where the policies are made,” he says. “As a member you have an opportunity to influence the directions of the organization with respect to the allocation of resources.”