NEWS

Celebrity's Death Spurs Interest in Rare Cancers

Tom Reynolds

When former Chicago Bears star running back Walter Payton revealed in February that he had a rare liver disease, the headlines slanted optimistically, with doctors calling his prognosis "very promising" if he got a liver transplant.



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Walter Payton

 
Sadly, that chance never came for Payton, the National Football League's all-time leading rusher. His primary sclerosing cholangitis led swiftly to bile duct cancer, as it does in 10% of PSC patients, and in November he was dead at age 45.

Payton's death thrust into the spotlight a rare cancer that normally gets scant attention. And according to experts and advocates who work with these less common cancers, unfamiliarity underlies most problems faced by patients with these diseases. In some cases, lack of medical knowledge and public awareness leads to deaths that might have been prevented; in others, to years of unexplained misery.

Susan L. Anderson of Tempe, Ariz., suffered from severe stomach pain, vomiting, and bowel problems that baffled her physicians for 8 years despite exhaustive testing. Then, during a 1995 operation to treat a blockage in her small intestine, surgeons discovered a carcinoid tumor. Carcinoids are a type of neuroendocrine tumor that ranges from benign, quiescent, and usually undetected to malignant, physiologically active, and life-threatening. Its most severe manifestation, carcinoid syndrome, involves excessive hormone and neurotransmitter secretion leading to cardiac, pulmonary, and gastrointestinal damage that can be fatal.

Although rare, carcinoid tumors make up more than 40% of all small intestine tumors and can occur anywhere in the gastrointestinal tract and less commonly elsewhere. About 2,500 U.S. cases are diagnosed each year.

Slow Diagnoses

Anderson's experience is not unusual among rare disease sufferers. For about 35%, it takes 1 to 6 years for the condition to be diagnosed, and for 15% it takes seven years or more, said Abbey Meyers, president of the National Organization for Rare Disorders, New Fairfield, Conn.



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Abbey Meyers

 
Although Anderson began researching the disease immediately, it took her 2 more years to find a specialist, Richard Warner, M.D., at Mount Sinai School of Medicine in New York, who has treated carcinoid patients for 40 years. When he began treating her in 1997, she finally found relief from her crippling symptoms. Her experience inspired her to start a Web site (http://home.att.net/~S.L.Anderson) to help other patients.



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Dr. Richard Warner

 
"I decided I had to do it because it would have been such a godsend if someone had a page like this when I was first diagnosed," she said. The Internet is ideally suited to creating communities among rare disease patients who are geographically far-flung, she added.

Warner, who is medical director of the Carcinoid Cancer Foundation (now also on line at http://www.carcinoid.org), believes the increase in carcinoid diagnoses in recent years probably reflects growing awareness among physicians rather than a true increase in this cancer's incidence. But he added that physicians with little experience treating carcinoid often tell patients with advanced tumors that nothing can be done, when in fact a variety of options exist. "The patients become very discouraged, expect to die, and don't," he said. "But they do deteriorate."

He said the small number of patients with tumors such as carcinoid makes it difficult to get statistically significant results in treatment trials. He is trying to analyze outcomes of patients treated with hepatic artery chemoembolization, which he considers a promising treatment for carcinoid. But a lack of standardization in technique, drug regimens, and dosages further muddies the conclusions, he said.

Even more troubling, Warner said, is that the dearth of hard evidence gives insurers a reason to deny coverage for treatments that physicians consider effective. Some of the information they use is 10 years old, he said, and "the health maintenance organizations love that — to find things they can hide behind as an excuse to justify not covering a treatment."

The biggest advance for carcinoid patients in recent years was the introduction of Sandostatin® (octreotide), a drug made by Novartis Pharmaceuticals Corp. in East Hanover, N.J. It relieves diarrhea and other symptoms and is also used to reduce growth hormone levels in patients with acromegaly, a disfiguring and debilitating disorder caused by excessive secretion of the hormone. In 1998 a long-acting form of Sandostatin was approved, reducing injection frequency from three times a day to once a month. But Anderson and Warner said it is not always easy for patients to get their doctors to prescribe the drug, which costs about $2,200 a month. In most parts of the United States, Medicare covers 80% of the cost of Sandostatin, but because it is not considered an established treatment, the government requires doctors to pay up front and file for reimbursement.

Steve Dunn, who like Anderson is a cancer survivor turned webmaster, points out that many cancers doctors sometimes call "rare," such as kidney cancer, are in fact relatively common and have dozens of clinical trials going on. Dunn, who is from Boulder, Colo., was diagnosed with metastatic kidney cancer and was initially devastated to learn that 5-year survival was less than 5%. But he researched his disease and enrolled in a trial that he credits with saving his life. Now he offers help for other cancer patients at his site (http://cancerguide.org), frankly discussing subjects such as the pros and cons of researching one's disease and the questions to consider when deciding whether and what kind of clinical trial to enter.

"If you have a [truly] rare cancer, the chances are pretty good that your doctor has never treated even a single case of it, and doesn't really know very much about it," Dunn advises patients.

The bounty of online medical information allows patients to participate in treatment decisions to a much greater extent than was previously possible, and the mailing lists and news groups let patients "pick the brains" of thousands of people who may have the specific experience or expertise they seek.

Meyers said that by the standard established in the 1983 Orphan Drug Act, almost all but the most prevalent cancers (breast, lung, prostate, colorectal, and non-Hodgkins lymphoma) are classified as rare diseases, meaning fewer than 200,000 Americans are living with the disease. She said the definition makes sense in terms of drug development, since below this level of prevalence drug makers need financial incentives to render a drug profitable.

Meyers said that of the 1,100 disorders on the National Organization for Rare Disorder's online database (of a total 6,000 rare diseases identified), about 50 to 100 are either forms of cancer or disorders that predispose for cancer, such as neurofibromatosis. Launched with primitive technology in 1983 (on CompuServe in the pre-Web era), NORD now gets more than 5 million visits a year on its site. Users must pay $7.50 for a full report on a disorder, which she says is necessary because of the lack of public funding.

Net Community

Besides providing information, NORD uses the Internet to bring together patients who are frustrated by the lack of research into their disease. The organization recently issued a request for proposals for research studies on adenoid cystic carcinoma, a cancer of the salivary glands, after a group of patients raised money to fund the grant. However, "It's been very difficult just to get applications from someone who's studying it," Meyers said. She said there appears to be a perception — justified or not — that it is easier for researchers to get grants to study common cancers than rare cancers, causing the latter to be largely ignored.

"One of the big, big problems is that there's no information on the rare cancers" from major cancer organizations, Meyers said. She said information specialists both at the American Cancer Society and at the National Cancer Institute's Cancer Information Service refer callers to NORD when stymied by a question on a rare cancer, and in many cases NORD finds a clinical trial suited to the patient. The organization also helps arrange transportation to distant trial sites through agreements with airlines and private pilots.

Also on the Web is the Association of Cancer Online Resources Inc. (http://www.acor.org), a New York-based nonprofit organization that hosts 79 online discussion and support groups for cancer patients. These include a list for rare cancers in general and specific lists for such rare neoplasms as adenoid cystic carcinoma.

In summarizing the problems facing those with rare cancers, Meyers reprises a lament often heard from other quarters. "I think the frustration in the patient community is that all the attention is going to the most prevalent and most politically vocal cancers," she said, "and the people with rare cancers really feel they have been left out."



             
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