Battling a disease on two fronts

"There is no Dana-Farber of muscular dystrophy. We're going to make Boston and Watertown the powerhouse of muscular dystrophy," said Daniel Paul Perez (right, with research scientist Eric Sundberg), the driving force behind the new Wellstone research facility in Watertown

With the US National Institutes of Health's announcement that it will award a $9 million grant to launch the Wellstone Muscular Dystrophy Cooperative Research Center in Watertown next week, perhaps no one has the right to claim victory more than Daniel Paul Perez.

For two decades, Perez has worked to get broader recognition and better treatment for facioscapulohumeral muscular dystrophy, or FSHD, the second most prevalent form of muscular dystrophy in adults.

"It's a crippling, devastating disease on the order of Huntington's or Parkinson's," said Perez, a longtime activist who has been a driving force behind the center while waging his own battle with FSHD.

One of a number of research facilities named for the late Senator Paul D. Wellstone of Minnesota, the Watertown center will be the first to focus on FSHD, a disease that affects one out of 20,000 people, yet receives little public or scientific attention compared with the better-known form of muscular dystrophy that is supported by the Jerry Lewis Foundation. The Wellstone center will be headquartered at the Boston Biomedical Research Institute on Grove Street.

Those with the inherited condition lose muscle strength first in the upper body and face, including the ability to smile, then slowly and progressively lose their mobility, becoming unable to get out of a chair unassisted or to walk without losing their balance.

Males are often diagnosed in their early teens, as they are unable to perform simple athletic tasks like chin-ups or rope climbing, while females are often tagged in their early 20s, said Perez.

Perez, who grew up in Lexington and lives with his wife in Bedford, said that although he wasn't formally diagnosed until around age 15, his family had long suspected he had FSHD, since his mother also suffered from it.

Despite watching his mother's struggles, Perez was almost unaware of how his life would be changed over time by FSHD.

"I didn't fully realize what the implications were," said Perez, 46. Not being able to play basketball anymore, being unable even to step up on a curb. "At the age of 16, you don't ever fathom, you just don't think about these things. There's a lot of things you can't do that you used to do."

Though he can still stand, Perez said, he uses a wheelchair at home and at work to minimize the chances he will fall and suffer head injuries, a common danger for those with FSHD. Though many with mild or moderate cases of the disease live into their 70s, maintaining a high quality of life and independence is a major struggle, he said.

Scientists say there's still a lot they don't know, such as why only certain muscles are affected by the disease. "The basis for the disease is not properly understood," said Henry Paulus, deputy director and senior scientist at Boston Biomedical. "But also treatment needs to be developed."

Eric Sundberg, a Boston Biomedical scientist, said the goal of the center will be to gather data and to identify new biomarkers - molecular differences between diseased cells and normal cells - that will lead researchers and others to new therapeutic treatments.

Perez said he always found it strange that with the world-class medical facilities in the area, none focused on the research or treatment of muscular dystrophy. "There is no Dana-Farber of muscular dystrophy. We're going to make Boston and Watertown the powerhouse of muscular dystrophy," he said.

Perez envisions the Wellstone center, unlike other research facilities, as a collaborative effort, a place where scientists, students, clinicians, pharmaceutical company and governmental researchers, and even patients will come together. "I feel it's very important for patients to be involved in medical research," said Perez. "Too often, they're left out."

In 1989, Perez started an informal support network of nearly 100 people with FSHD from across the country, looking to share experiences, socialize, and mobilize political support. He also wanted to provide researchers with potential patients to study. "I needed a group, I couldn't act alone," he said. The network grew into the FSH Society, a nonprofit consortium of researchers and patients that Perez still heads. He also has appeared before Congress several times to lobby on behalf of getting more federal funds directed to FSHD research.

"The goal of this center is to create these kinds of models" so that pharmaceutical companies have a repository of tissues and other biomaterial on which to hold clinical trials in preparation for the testing of new drugs, said Perez. "I see this as a beginning, as one part of the engine - an engine that generates a lot of partnerships with other scientists."

Beyond data collection, Perez sees the center, which formally opens next Friday, as an important training ground for the next generation of researchers in the field. It will be the first Wellstone center in New England and the first in the nation to exclusively study FSHD, according to the Boston Biomedical Research Institute.

"I had not known Daniel before coming to Boston, but soon I became captivated by his commitment and determination to promote research on FSHD and his remarkable success at single-handedly engaging networks of scientists, clinicians, the NIH and Congress in his cause for more research that would lead to a therapy for FSHD," said Dr. Charles P. Emerson, director and senior scientist of Boston Biomedical, in an e-mail interview.

"Daniel is a master strategic thinker, and incredibly goal oriented and determined to make progress on his disease," he said. "For Daniel, the successful funding of our new Wellstone center is the culmination of years of hard work and planning, a wonderful tribute to his efforts."

"I never wanted to make anyone go through the pain and the difficulties and all the trials and tribulations of having this disease," said Perez. "On the other hand, I wouldn't have it any other way."