Cynthia Riddle and daughter Julia feed carrots to their horse Nora. (Photo by Lisa Aciukewicz)

Cindy Riddle appears to be living a life many would dream about: she lives with her husband, Ken, and two bright, healthy children—Emily, 5, and Julia, 2—in a picturesque country home on a small farm on West Bare Hill Road, where she boards horses. She boasts a collection of ribbons and medals from her 10 years competing in horse shows across New England as a young woman.

But Riddle found out in April that she is one of only 15,000 to 30,000 people in the whole country who suffer from a disease called inclusion body myositis, or IBM.

IBM is one of a small family of diseases referred to as “idiopathic inflammatory myopathies,” which cause swelling and loss of muscle. They are believed to be autoimmune diseases, in which the body’s immune system attacks normal, healthy tissue through inflammation, or swelling. The cause of these diseases is unknown. According to Bob Goldberg of the Myositis Association, all forms of myositis are present in 30,000 to 50,000 people in the U.S. at any given time, with half of those cases being IBM.

Some forms of myositis are considered temporary, marked by flare-ups of symptoms lasting a few months or a few years, and can be successfully treated with drugs. But IBM is not considered temporary, and according to the Myositis Association, there is no effective treatment for it. The association says that IBM causes people to get slowly weaker, rather than experience flares. And long-term, says the organization, “Patients with IBM need to anticipate the imminent limitations in their strength and mobility and prepare for each change.”

“I’m not willing to accept that I’m just going to get worse,” says Riddle. “I have young kids and a full life … . I plan on remaining mobile. I’ve been extremely healthy my whole life.”

Riddle said the disease is not particularly painful, but the degeneration in her muscles has been noticeable: she can no longer climb stairs, run, put on pantyhose, open or close Velcro fasteners, or squeeze a tube of toothpaste.

“It’s this silent thing that’s attacking me,” she said.

IBM, known as a seniors’ disease, typically strikes people in their mid-fifties or older, and is more common among men than women. But Riddle, age 49, was told by her doctor that she could have had the disease for as long as 10 years. She acknowledged having frequent spells of tripping and falling, mostly when hiking or walking the dogs. That is one of the early signs of IBM, she learned, along with a weakened hand grip, difficulty swallowing, and difficulty climbing stairs or standing from a seated position.

Riddle said that, shortly after her diagnosis, she found out about an IBM support group, but after one visit decided it wasn’t for her. Most of the people she saw there were seriously debilitated, she said, and she did not want to be reminded that this fate might await her. Instead, she decided to fight back. And her fight includes planning a relay marathon she hopes will help her raise $1 million for a clinical trial on a drug that might offer hope to her and other IBM sufferers.

On the hunt for a cure

After her diagnosis, Riddle spent the summer educating herself about the disease.

“I was hoping diet and exercise would help,” she said, and toward that end has incorporated a 45-minute workout into her daily routine.

After coming across medical studies that suggested there could be a link between IBM and Alzheimer’s disease, Riddle found out that the Myositis Association had funded a research grant at the University of Kentucky evaluating how a special diet—the “ketogenic diet”—might impact IBM. The diet has been used with some success in helping both juvenile epileptic patients and Alzheimer’s patients. She wanted to try the diet, under a doctor’s supervision, but couldn’t find a doctor willing to take this on because, she said, “It’s not even considered a mainstream treatment for juvenile epileptic patients, much less a treatment of possible benefit to IBM patients.”

During the course of investigating the diet, Riddle contacted the person responsible for the research, Dr. Paul Murphy, and learned about a new drug which, in clinical trials, has shown to be promising in the treatment of Alzheimer’s, and could be approved by the FDA as early as this summer. She learned that FDA-approved drugs can sometimes be employed for “compassionate use,” treatment of a condition for which the drug hasn’t been specifically approved. This was her ray of hope. She forwarded information about the drug, Flurizan, manufactured by Myriad Pharmaceuticals, to her doctor, Tony Amato, who is vice chairman of neurology at Brigham and Women’s Hospital, to see if he thought the drug could be of benefit to her. Going one step further, Riddle asked both Murphy and Amato if they thought Myriad would be receptive to considering a trial of the drug on IBM patients.

Much of what she heard back might have sounded discouraging to the average person. Amato told her that there is no clear connection between the role of the protein, or amyloid, suspected in the cause of Alzheimer’s and any role it might have in IBM. He said if there was a relationship between IBM and Alzheimer’s disease one might expect to see people with Alzheimer’s getting IBM, and vice versa, and added that he had never heard of any such case.

Murphy concurred with Amato, saying “There is a lack of evidence for the co-occurrence of IBM and AD in the same individuals.” He added, “I suspect that IBM will ultimately turn out to be caused by many combined factors, and we certainly shouldn’t be ‘putting all our eggs in one basket.’”

But Riddle is not your average person. She focused instead on the hope she heard in the feedback from the two men. Murphy told her that a trial of Flurizan in treating AD symptoms in mice was nearly complete, and that if the drug proved beneficial in that trial, Myriad might be interested in following up with a trial on the drug’s effectiveness in treating IBM.

Amato told her, “It would not be unreasonable to approach Myriad, but they will not likely do anything until the studies in AD are complete.” He noted that a trial to demonstrate the efficacy of Flurizan in treating IBM could cost more that $3 million, about two-thirds of which would probably be supplied by the drug company itself.

Riddle heard from the Myositis Association that there was an anonymous donor willing to contribute a matching grant of $500,000 toward IBM research, and that was all she needed to hear. She began making plans to raise $1 million, and to increase awareness about IBM to 1 million households.

“The whole journey is about being your own advocate,” she said.

Details of the hunt

In November Riddle decided to organize a relay marathon, with a fox hunt as a theme—“On the Hunt for a Cure”—to take place April 21, Patriots Day, the day of the Boston Marathon. She said she’s hoping that any media covering the marathon will pick up the story about her marathon, and give it some national attention. She sees herself as a “pretty good candidate for representing this disease,” because she is still young and, at present, has the mental energy to envision hope for a cure. She said one of her biggest challenges will be “trying to raise this disease out of obscurity—it doesn’t have a famous athlete behind it.”

Riddle initially pictured a race that would include walkers, runners, horseback riders, bicyclists, and motorcyclists, each handing off toy foxes containing amounts pledged for the cause, on a route that would run from Dunstable to Cambridge. But in thinking through this monumental undertaking in the last month, Riddle realized the race as she first imagined it is bigger than she’s prepared to handle. Now she thinks it would be better to contain the “hunt” relay within Harvard, with a contiguous off-road trail for those who want to participate, either walking, running, or riding, and she plans to work with the Harvard Conservation Trust and others on establishing a course for the race. She also has connections with people in the New England Hunt Club circuit, and is hoping they might be able to offer assistance as well.

Riddle has also turned to the Myositis Association for help on her project, and has learned they can help her set up an “event Web site” that would list sponsors, provide downloadable pledge forms, and provide a link for contributors to make online donations.

Regardless of the final form the marathon takes, Riddle will need people to help organize the event and to handle the myriad details of race day. And, of course, she will need people to participate in the marathon, and to donate funds.

Meanwhile, she has begun work on promotional materials, drafting a flyer and looking for promotional T-shirts. She said she’d like to approach the company that makes the “Life Is Good” T-shirts to see if they would donate some for the race.

“I’m just trying to persevere,” she said, but added, “Life is—still—good.”

Anyone interested in helping out with the marathon can contact Riddle at cynthiariddle@charter.net.