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Kirkland mother fights to fund research, find cure for son’s degenerative muscle disease

Terry Colella and husband, Rick, founded Friends of FSH Research to fund research for their son’s degenerative muscle disease.  - contributed
Terry Colella and husband, Rick, founded Friends of FSH Research to fund research for their son’s degenerative muscle disease.
— image credit: contributed

Don’t bother giving Brian Colella’s mother a gift – it may end up going to someone else.

So before Brian came home recently to visit from Korea where he teaches English, he thought about what to get for his mother, Terry.

“It’s kind of a joke that there’s no point in trying to give my mom a gift because she’ll just take it and put it into the auction,” said Brian, 23. “I’m looking around like what would be a good auction item to bring home because I know that she would rather have that than have something for herself.”

On a recent afternoon, the mother-of-four walks through the downstairs of her Kirkland home that is packed with dozens of acrylic and oil paintings, wine bottles, granite rock vases, French serving platters, gift baskets, books and more. Terry’s downstairs has become a storage for items up for bid at her annual auctions she hosts to fund research for Brian’s degenerative muscular disease, FSHD (Facioscapulohumeral Muscular Dystrophy). This year marks the 7th Annual “FiSHing for a Cure Gala” dinner and auction, which will be held on Saturday, Jan. 29 at the Bellevue Hyatt. To date, the auctions have raised more than $1.2 million that has funded groundbreaking research for the disease.

Terry started her non-profit organization, Friends of FSH Research, after her son was diagnosed with FSHD in 2004.

Misdiagnosis

Thinking back, Terry says there were some “odd” instances that she didn’t think too much of at the time. In the 5th grade, Brian wanted to join band, but his band teacher said his mouth muscles were not strong enough to play the trumpet.

“We just thought he had this rosebud-shaped mouth,” said Terry, who worked as a labor and delivery nurse at Overlake Hospital for nearly 20 years “Retrospectively, had we known, that (his disease) would have told us why.”

During his sophomore year at International Community School, Brian joined the Sammamish Rowing Association, rowing after school and in competitions throughout the year. For practice, the team competed on a rowing machine at the gym. No matter how hard he tried, Brian would not get stronger on it, Terry recalled.

Later that year, Brian was wrestling with his sister, Mariel, and his mother noticed a strange protrusion of his arm muscles. That prompted her to set an appointment with the doctor.

The pediatrician dismissed it as a sports injury and “that was the beginning of three months of being analyzed, kind of like a guinea pig,” said Terry. “It got really hard after a while.”

Five different specialists handed her a list of possible conditions: missing scapulo (upper back) muscles, a nerve injury and even another form of Muscular Dystrophy.

Terry wouldn’t buy any of it.

“The specialists – all of whom were very sure of their diagnosis – all had varying degrees of inaccuracies,” she said, noting that symptoms are so varied in people with FSHD that the disease is often misdiagnosed. “As a mom and nurse, I pretty much put those opinions away. I just thought they were wrong.”

They eventually saw a doctor who diagnosed Brian with FSHD – a “horrible term to hear, especially with my son who had always been really, really, super healthy,” Terry recalled.

Brian went to a Muscular Dystrophy clinic, where doctors ran strength tests and told him to come back for a check-up in a year.

“It’s like you’re just going to keep going to be told how you’re doing or how you’re starting to get weaker because there’s no treatment or cure,” she said. “There’s no physical therapy program that will enhance anything – nothing.”

After extensive Internet searches, Terry also found there was also not much going on in the way of research for the disease.

Friends of FSH Research

Terry read about a woman with a lung condition whose family put on auctions every year to raise money for the LAM Foundation.

“So I thought, I could do that,” she said.

Brian decided to write a letter that went out to all the families at his school, raising awareness about FSHD. Meanwhile, Terry left her job as a nurse and formed Friends of FSH Research, a volunteer-run charity committed to finding a treatment or cure for FSHD.

“I’m doing it for my own sanity as much as everything else,” she said of her non-profit. “It’s helped me cope with the whole thing. I feel like I’m doing the best I can to make an impact.”

The first auction had the biggest turnout yet, with 375 people in attendance, and raised $180,000. The event also drew great support from the school community and co-workers from the Boeing Co., where Terry’s husband, Rick, works.

Since then, the non-profit has funded the very first FSH research project ever to be conducted in the Seattle area in 2005. Friends of FSH has provided pilot project funding to local researchers, including Stephen Tapscott (Fred Hutchinson) and Dan Miller (University of Washington). Based upon the data from pilot studies that the organization has helped to fund, the research group recently won a $6.3 million FSH grant – the largest ever for FSH research – supported by the National Institute of Health.

The collaborative research group also made a major breakthrough that was recently reported in the New York Times that points to the disease-causing gene and suggests new directions for potential targets for therapies.

“These are ground-breaking, novel findings that really have implications for other conditions,” said Terry, noting that her organization’s collaborative model had sped up the research process. “There’s never been this kind of excitement around FSH before. There is a lot of new hope.”

Living with FSHD

Terry has only heard her son vent once about his disease. With weakening muscles in his upper arms and back, Brian was no longer able to row or play many of the sports he once enjoyed. So he developed a liking for computer games.

But the family was concerned that he was spending too much time in front of the screen.

“He said, ‘I can’t do anything else. I can’t even play basketball anymore, I can’t shoot baskets anymore, holding a bat is too heavy now,’” Terry recalled, crying. “He’s not a complainer.”

His sister, Mariel, says he’s had to make adaptations to the way he raises his arm to eat or wash his hair.

“He’s able to do everything, it’s just doing it a different way,” she said, though, “It’s really hard to think about what’s down the road, like him having to be in a wheelchair.”

Brian said his greatest fear about living with FSHD is he wants to have kids someday, “but I wouldn’t want my child to have the disease. But I’m not planning on having a child any time soon, so who knows what options there will be by the time I want to have kids.”

There’s also the fear of the unknown for Brian.

“It’s hard because I really don’t know what condition I’ll be in in the future because there’s no way to predict how it will progress,” he said. “I try not to think about that too much.”

Brian hopes researchers will one day find a cure for his disease. He also credits his mother for bringing this reality closer.

“This is basically her whole life at this point,” he said. “It’s pretty incredible how much she has done.”

‘FiSHing for a Cure’

The 7th annual gala dinner and auction begins at 5 p.m. Saturday, Jan. 29 at the Bellevue Hyatt Regency Ballroom, 900 Bellevue Way N.E., Bellevue. The event includes complimentary champagne, hors d’oeuvres, live music, dinner and a silent and live auction. Tickets cost $100. For information, visit www.fshfriends.org or call 425-827-8954.

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