Treatment of Rare Diseases Found by Panel to Be Illusive
Six years after passage of a pioneering law aimed at providing drugs for rare diseases, up to 20 million Americans still face often insurmountable obstacles in having their diseases diagnosed and treated, a federal commission reported today.
The problem is no longer a simple absence of drugs, the National Commission on Orphan Diseases found. Instead, medical care is hampered by uninformed physicians, a paucity of research and the unwillingness of some insurers to pay for treatment.
“If you don’t have a mainstream medical disease, you are in big trouble today,” said Andrea Hecht, a Los Angeles County woman with a rare condition called Cushing’s syndrome. “ . . . Every American should look at this (issue) as something that they have a stake in.”
The commission was formed by Congress in 1985 to examine the medical care of patients with rare diseases--some 5,000 known conditions ranging from various cancers to Tay-Sachs disease and cystic fibrosis, each affecting fewer than 200,000 Americans.
Among the commission’s findings:
- One in seven of the 801 patients with rare diseases surveyed by the commission said it took them six or more years to have their disease accurately diagnosed. Nearly a third of the patients surveyed said it took them between one and five years.
- Nine percent of the patients had no health insurance; another 7% had inadequate insurance. Patients with rare diseases “are often uninsurable because third-party payers lack information about their disease or will not insure pre-existing conditions.”
- Insurers often refuse to cover the costs of experimental treatments--sometimes the only available therapy for people with rare diseases. Or, they refuse to reimburse for marketed drugs and devices not approved specifically for use against rare conditions.
- More than half of the $1.3 billion spent by the federal government on rare-disease research in fiscal 1987 was spent on about 200 rare forms of cancer, leaving just $640 million for the remaining 4,800 other rare diseases.
“The public’s fear of a disease governs where biomedical research money is spent,” said Abbey Meyers, a commission member and executive director of the National Organization for Rare Disorders. “The more the public fears a disease, the more funding it gets.”
The commission concluded:
“Information of all kinds, for patients and their families, physicians, researchers, insurers, and the public is lacking or poorly disseminated. . . In short, the needs of patients with rare diseases are not being adequately met.”
Andrea Hecht’s case, as she recounted it to The Times, is a typical example.
A 36-year-old president of a public relations firm in Sherman Oaks, Hecht first developed symptoms of her disease in 1976. Newly married and new to California, she began losing strength in her legs. Within months, she could not swing her legs out of a car.
Disease Takes Toll
Her body temperature and blood pressure went out of whack. She gained 75 pounds, her skin broke out, purple streaks appeared under her arms. Again and again, physicians failed to diagnose her problem. They gave her hormone shots, diuretics, creams for her skin.
After two years, a doctor finally recognized Hecht’s condition as Cushing’s syndrome, which results from an excess of certain hormones secreted by the adrenal gland. The cause of the disease can be tumors of either the adrenal gland or the pituitary gland.
Surgeons removed Hecht’s adrenal glands--a treatment that stopped her symptoms but reduced her ability to fight infections. For the next nine years, Hecht resumed a relatively normal life--until one day in 1987 she began losing peripheral vision.
The problem was traced to a tumor on Hecht’s pituitary gland; it was impinging on her optic nerve, Hecht says. The tumor, which was removed, turned out to have been the cause of Hecht’s disease. The removal of her adrenal glands had been unnecessary, she says.
“People believe that whatever goes wrong with their body, their local doctor is going to know what it is and know the latest treatment,” said Hecht, who has since founded the National Cushing’s Assn. “That is the biggest myth that the American public has been sold.”
Recommendations to Congress
The federal commission’s 54 recommendations to Congress include establishment of a federal office to oversee issues concerning rare diseases, increased research funding and efforts to ensure that insurance plans don’t discriminate against people with rare diseases.
“Some of the problems are unique to people with rare diseases,” Rep. Henry A. Waxman (D-Los Angeles), a sponsor of the 1983 Orphan Drug Act, said of the commission’s findings. “But other problems, such as insurance, are not unique.”
The Orphan Drug Act established incentives for pharmaceutical companies to develop products to treat rare diseases. Waxman said the commission grew out of the realization that the difficulties of people with rare diseases extend beyond a lack of available drugs.
