HOLLISTON, Mass. (AP) - In 2007, Holliston couple Christine and Stephen Wright knew something was wrong.
Christine, 49, a tennis player, skier and bicyclist - and mother of three - was suddenly and dramatically losing weight and strength. Her doctors agreed something was off, but they couldn’t pinpoint a cause.
“We ended up going to four different (specialists) …. with test after test after test,” Stephen Wright said, naming a cardiologist, pulmonologist, oncologist, and hematologist. ”… and in the meantime she was continuing to get weaker and lose weight.”
After nearly two years of tests, misdiagnoses and sickness, they found it. Christine had amyloidosis, a rare blood disorder in which proteins build up and begin damaging organs. In Christine’s case, the proteins attacked her heart.
An aggressive, painful treatment – a stem cell transplant and chemotherapy – bought Christine nearly a decade of good health, but in 2016, the disease began attacking her heart again. Doctors had advised against a second treatment, and Christine’s heart was too weak to take it.
“Her body just gave up,” Stephen Wright said, after months of hospital visits, a three-times-a-day “cocktail” of drugs, clinical trials, and failed attempts to qualify for a heart transplant, “and she passed away on Oct. 15 of 2018.”
Now Stephen Wright is part of a push to create a statewide Rare Disease Advisory Council, with the backing of a bill in the state Legislature. The council would bring more awareness to rare diseases like Christine Wright’s, improve the quality of life for rare disease patients, help with funding, and pool knowledge currently scattered across the state and country.
“When I was introduced to the rare disease community, it was like ‘Oh my gosh, this is a whole community with all of these problems that no one knows about,’” said Julie Gortze, a registered nurse from North Attleborough and founder of the nonprofit Rare New England. “Children are dying, and parents are dying.”
Gortze has been working with state legislators to pass the bill forming the council for the past six years.
The idea, currently filed as H.4268 and sent to the Committee on Health Care Financing, is to create a body of experts that would focus only on rare diseases, characterized as affecting 200,000 people or fewer in the United States.
Very few rare diseases even have federally-approved treatments, supporters of the council said.
State Rep. Joseph McKenna, one of the lead sponsors on the bill, said there are about 7,000 diseases that fall into the category of “rare.” Unlike more common diseases, such as cancers, they don’t receive widespread attention, and support efforts are decentralized and small.
“Each rare disease also has needs for research and medical treatments,” he said, “and they don’t have a sponsorship on the Fenway Park Green Monster, for example.”
That awareness is important, supporters of the council said, for funding, interest in research, public sympathy, and early detection. The latter can be critical for some rare diseases.
“People do not understand what’s going on in the rare disease community,” Gortze said. “They’re in crisis, and it’s like they’re not even being paid attention to.”
The council proposed by the state would bring together that decentralized knowledge on rare diseases so that data can be accessed and studied in one place. The council could come up with standard definitions, treatment approaches, and research ideas, and possibly form a centralized database of rare diseases.
“I think there are a lot of organizations that are highly fragmented and disaggregated in terms of how they support the individual diseases,” Wright said. “I don’t think there’s synergy across these rare disease teams.”
Connecticut, New Hampshire and Pennsylvania already have such councils, or task forces, and a handful of other states are looking at forming their own.
“I believe it is critical that we provide this collective focus on the prevalence of rare disease in the Commonwealth,” State Rep. Hannah Kane, another lead sponsor on the bill, said in an email, “Unified in purpose, we can strive to shorten the length of time of diagnosis, galvanize the scientific community in discovery of treatments and cures, and provide patients with support mechanisms and best practices to battle their rare diseases.”
Kane called the council a “powerful tool” that is “natural and long overdue.”
In the Wrights’ case, the couple was lucky to have discovered Christine’s amyloidosis relatively early, after Christine read a newspaper article about a woman whose symptoms mirrored her own. Even so, a lack of common knowledge about the disease across the medical world meant the couple faced constant roadblocks. One hospital sent Christine through the process of determining whether she would be a good candidate for a heart transplant, Stephen Wright said, then denied her at the end because they weren’t sure how to treat a transplant patient with amyloidosis.
“Right now, oftentimes people with a rare disease feel like they’re alone on a journey,” said McKenna. “They’re educating doctors, they’re educating teachers, they’re educating friends, and constantly advocating for research dollars.”
Stephen Wright found himself in that position, saying he might have known more about amyloidosis than 99 percent of the medical community. A centralized database on rare diseases that included amyloidosis, he said, would have helped his wife.
“For the tens of thousands of patients who don’t know where to search and are in the two-year process that Chris was on,” Wright said, in trying to figure out what she had, “kind of getting a big data view of rare diseases so they can be consolidated …. I think would clearly have helped not only Chris, but all the rare disease patients.”
The Cambridge-based Massachusetts Biotechnology Council supports the bill, and supporters pointed to the many such innovative industries in the state of which a council could take advantage.
“Given our climate in Massachusetts with the biotech sector that we have, the life sciences sector that we have, between Cambridge and Boston and Westborough and into Worcester, combined with the hospitals we have, …. combined with the institutes (of higher learning) that we have,” McKenna listed, “it’s a no-brainer to bring them all together …. to make sure we’re doing the best for all of those patients.”
McKenna said he’s a “natural realist and borderline pessimist” when it comes to legislation passing, but was optimistic this could be the year the council bill makes it across the finish line. Tentative conversations with other legislators makes him think the bill might pass favorably out of its current committee – Healthcare Financing – by the end of the month.
That would bring it to the house floor, and the Senate already has a similar bill, sponsored by state Sen. Paul Feeney.
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