Thirteen years ago, Rick Colella and his wife, Terry, became concerned about their 15-year-old son. A rower on his Lake Sammamish Rowing team, he seemed to be getting weaker instead of stronger. His trapezius muscles, which run from the upper back and extend to the middle of the spine, looked oddly prominent between his neck and shoulder. Then there was the time in middle school when he had difficulty playing the trumpet because of muscular problems around his mouth.
After months of appointments with pediatricians, orthopedists and sports medicine physicians, Sidney Gospe, chief of neurology at Seattle Children’s Hospital, confirmed the diagnosis: Facioscapulohumeral Muscular Dystrophy (FSHD). While comedian Jerry Lewis brought widespread attention to Duchenne Muscular Dystrophy, FSHD is actually the most common form of the disease. It affects more people than either Lou Gehrig’s disease or cystic fibrosis do. Usually beginning in the teenage years, FSHD can affect facial muscles and cause muscle weakness in the arms and shoulders, often progressing to affect abdominal and leg muscles as well. While it is progressive, the disease varies tremendously among the estimated 35,000 people who have it in the U.S. and the half million thought to have it worldwide.
With no treatment available, all that could be offered to the Colellas at the time of their son’s diagnosis was a follow-up appointment in a year to gauge if and how much his muscles had weakened. While Rick and Terry’s son’s condition did not come with a positive outlook, he was fortunate to have determined parents who tackled this challenge head-on.
Terry, ’80, who has a master’s degree in nursing from the UW, is a bundle of positive energy, bristling with can-do spirit. Rick, ’73, ’75, who earned a UW degree in aeronautical engineering and an MBA from the Foster School of Business, won Olympic bronze medals in the 200-meter breaststroke in both ’72, ’76. He knows what it takes to work hard—and win.
At the time of their son’s diagnosis, there were competing theories about the cause of FSHD muscular dystrophy. This uncertainty created an obstacle for researchers in obtaining funding. Government agencies such as the National Institutes of Health prefer to fund projects that have a significant chance at success.
So, the Colellas sprang into action and founded a nonprofit called Friends of FSH Research. To date, they have funded $3.2 million in research, with more than $1 million going to UW scientists. Because of their generosity, UW is now one of the world’s three top institutions in terms of significant advances in FSHD.
“I suppose if I’d lived somewhere other than Kirkland, I probably would have held bake sales to raise money for research,” Terry says. “We were in a great part of the country to do this because of Children’s, the UW and Fred Hutch. I thought, ‘If we don’t do it, who will?’” Before the Colellas became personally involved, almost all of the funding for muscular dystrophy research went to Duchenne.
At the start, Terry reached out to Thomas Bird, now professor emeritus of neurology. He not only helped the new organization put out its first request for proposals, but also chaired its scientific advisory board for eight years. Terry didn’t contact a lawyer to start the organization; instead, she went online and called the IRS to get tax help. The payoff of all of their hard work? In their first year, she and Rick pulled off the mother of all fundraising auctions, bringing in $200,000 to fund research projects.
“People love supporting the UW and that’s one reason our donors and supporters are comfortable working with us,” says Rick, a UW swimming star who was inducted into the Husky Hall of Fame. In their organization’s first year, “We made enough money to fund three research projects.”
What makes the UW connection to Friends of FSH Research so special? It isn’t just that an alumni-led organization is giving grants to UW investigators. It goes much deeper than that.
Every year, the UW Medicine lab staff who devote their careers to researching this insidious disease participate in the annual auction, not because they feel obligated but because they want to. Meeting patients makes the work personal and gives their research a real sense of urgency. It’s not uncommon for patients to call the researchers and ask questions or even visit the labs. “For me, the annual auction is a celebration of what I work on, day in and day out,” says Joel R. Chamberlain, ’01, ’05, research associate professor of medicine who is working on potential therapies to prevent muscle damage.
Stephen Tapscott, professor, neurologist, and molecular geneticist at Fred Hutchinson Cancer Research Center, also received funding from the Colellas’ organization. His team is collaborating with labs at the UW, Leiden University in the Netherlands, and the University of Rochester to once and for all pinpoint the cause of FSHD. They identified the genes and proteins that lead to muscle damage, along with the mechanisms that cause FSHD. The guilty parties are located on the DUX4 gene. It results in a protein that eats away muscle.
“At the time we started work, there was really no agreement on the mechanisms for how the mutation led to the disease process,” says Tapscott, ’90. “There were many conflicting hypotheses and the real challenge was to test the individual theories and come to a clear understanding. We didn’t have proof that DUX4 caused FSHD until the UW, Fred Hutch, Rochester and Leiden generated the proof. Our whole lab is working on FSHD but now that we have targets for drug therapies, many companies are interested in developing drugs for FSHD. There will be clinical trials in the near future.” That simply would not have happened without the Colellas’ involvement. “They funded the very early phase work and once we had agreement on the cause, it was easier for other funders to come in. Without Friends of FSH Research, it would have taken much longer,” Tapscott says.
Leo Wang, ’07, a clinician and UW assistant professor of neurology, sees patients at the Veteran’s Administration, Children’s and the UW. Armed with two grants from Friends of FSH Research, he is working with clinical and basic science FSHD researchers who are trying to figure out how to follow the disease and mark changes in its course. One goal is to more quickly detect muscle changes so they can see if particular drugs are working. Wang is also trying to find out if decreasing inflammation in the muscle will slow the course of disease.
Daniel Miller, professor of pediatrics and pediatric genetics, got involved with the Colellas through what he calls “a nice bit of serendipity.” While at the UW on a postdoctoral fellowship, he was looking for a new direction in his research when he came across a flyer from the Colellas’ nonprofit asking for research proposals. He had seen children with FSHD, but he hadn’t dug into the scientific literature. “It hasn’t received the publicity of Jerry’s Kids and the Duchenne Muscular Dystrophy effort, but you probably know someone with FSHD. It can be mild enough that a person can live without realizing they have the condition, or so severe that children don’t learn to walk on time and end up requiring a wheelchair,” he says.
Miller, ’94, ’95, ’99, ’02, ultimately joined forces with Tapscott to investigate which genes were involved. “It’s a problem of not being able to turn off the DUX4 gene. In most people, DUX4 is shut off so they’re not making the protein in muscle. But in FSHD, a mutation causes abnormal regulation of the gene,” he says.
Miller explained that clinicians will often see a young person who has one parent with the genetic change. If the parent has the condition, there is a 50-50 chance of passing it on to a child. Less common: a new mutation occurs at conception even though neither parent has the disease. This was the case with the Colellas’ son—a genetic fluke.
Now 29 years old, Rick and Terry’s son is married and has a job as a copywriter, which he loves. He doesn’t feel that the disease has significantly affected his dreams and goals. As for the Colellas, they now have an even greater reason to continue their work: serving everyone who has come together to fight FSHD. “The people are what this is all about,” says Miller. “You ask anybody in the field. It’s unheard of to have four or five labs at one university working on one condition.”
Rick and Terry will be awarding UW researchers and their local colleagues at an event at the UW Medicine South Lake Union Campus on World FSHD Day (June 20, 2017). Visit the Friends of FSH Research for more details.