By Mike Costanza, correspondent
Posted Nov 04, 2008 @ 07:05 PM
Penfield, N.Y. — Christine Piacentino remembers Dec. 31, 1997. That was the day she and her husband, Michael, learned their 4-year-old son, Jonathan, had Duchenne muscular dystrophy.
The news hit the Penfield couple hard.
“We wanted to forget that day and act like it never happened,” Christine said.
Christine noticed early on that Jonathan wasn’t advancing toward the normal milestones of growth as quickly as expected.
“The first trigger was he had problems speaking,” she said.
Doctors believed he was developmentally delayed, and by the time he was 2 1/2 years old, Jonathan was in a BOCES program for children with special needs.
“They thought he needed extra help,” Christine said. “They thought he’d grow out of it.”
At the same time, Jonathan’s physical therapist noticed he was having difficulty getting up from the floor. He continued to experience difficulties moving about or using his muscles in other ways, and at the age of 4, tests revealed he had Duchenne.
Christine said for about the next six months, she seemed to move in a fog. Then, she decided to get going.
“I decided I had to do something,” she said. “I didn’t want another family to feel the way I felt.”
Christine joined Parent Project Muscular Dystrophy, a non-profit organization that funds research into her son’s disease and advocates for patients and their families, and soon took a seat on its board of directors. Starting in 2000, she and others affected by Duchenne began lobbying for the passage of the Muscular Dystrophy Community Assistance, Research and Education Act.
“Christine is a terrific advocate,” said Pat Furlong, founding president and CEO of the organization. “I can’t say enough about her willingness to get out there.”
Christine did all this on top of a full-time job. She is currently a consultant for a management resources company.
Furlong said the legislation contained a number of provisions intended to expand and intensify research on muscular dystrophy, including authorization for the National Institutes of Health to establish Centers of Excellence for research purposes. Each center would conduct research and test potential treatments, including tests with humans when appropriate. The ultimate goal: a cure.
In December 2001, President George Bush signed the act into law. Christine soon returned to Washington, D.C., with other members of the organization, this time seeking money to fund research. Her children came with her to help make the case for funding to congressional staffers and their bosses.
The stories told by Jonathan and other kids affected by Duchenne muscular dystrophy moved them.
“It’s quite a compelling story when you can say to someone, ‘I have this,’” Christine said.
Jonathan didn’t seem all that impressed with the nation’s capital.
“It was fun, but, like, it’s not all monuments or big buildings with congressmen in them,” he said. “It’s got subways; it’s got homeless people, just like Rochester and New York City.”
Since then, Christine has made countless calls to congressional offices and has returned to Washington at least yearly to lobby for the continuation of funding for muscular dystrophy research, often with one or both of her kids.
As the period covered by the muscular dystrophy act approached, she also lobbied for re-authorization of the bill. Once again, her efforts and those of the many others who have championed the cause bore fruit.
On Oct. 8, Bush signed the Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Act, an expanded version of the original bill. The bill is named in honor of the late Minnesota Sen. Paul D. Wellstone, who was admired by many in both parties.
According to Furlong, the research into the disease and its treatment has begun to show progress. For example, drugs called ACE inhibitors and beta blockers can be used to protect the heart muscles and make them work more efficiently, and steroids can help prolong heart and lung function.
“We stand at the forefront of some promising clinical trials,” Furlong said. “The world of Duchenne is changing.”
At the same time, she’s worried about the effect the current economic climate could have on the National Institutes of Health’s budget and its ability to conduct research on muscular dystrophy.
“The NIH budget is severely constrained,” Furlong said. “I am deeply concerned about a loss of funding.”
Jonathan is helping with clinical research in his own way, by participating in a clinical trial for a new drug to treat his disease. He takes about 15 pills a day, and regularly sees a cardiologist and three other medical specialists. The Penfield High School sophomore gets good grades and walks to class with the help of a shopping cart donated by Wegmans.
Somehow, despite the disease, he has kept his chin up.
“It doesn’t matter to me that I have gone through this all of my life,” Jonathan said. “I just kind of deal with it.”