Why you should care
More than that, defining an illness as rare might mean a cure is easier to find.
“I have no diagnosis, no prognosis and no pain medication,” says Kathy Panas Zabel. For more than 30 years, she’s been trying to figure out why she experiences pain throughout her body. Doctors couldn’t help her or didn’t want to take her on as a patient because of her complex medical background, so she started compiling research and medical records on her own, trying to find some answers.
Some hope came in 2009 when she found out she had been accepted to Dr. William Gahl’s Undiagnosed Diseases Program at the National Institutes of Health (NIH). Applicants to the program have to submit medical records and undergo testing including genome sequencing, but less than half of patients actually receive a diagnosis. In the world of rare diseases, Zabel is truly rare. She might be the only one with her condition.
However, not all rare diseases are that rare. And as a class, they’re barely rare at all. The NIH’s definition of a “rare disease” is just one that affects less than 200,000 Americans. Only a few people may be affected by each, but there are estimated to be thousands of these conditions, meaning that:
An estimated one in 12 Americans lives with a rare disease.
The NIH estimates that between 25 and 30 million people, or 7 to 9 percent of the U.S. population, currently live with a rare disease. The Canadian government also estimates that one in 12 Canadians have a rare disease, while EURORDIS, a patient-driven nongovernmental organization (NGO) alliance, estimates that about 6 percent of European Union citizens live with a rare disease — which in Europe means it affects less than one in 2,000 people.
Although technically rare, many people recognize these diseases. Five years ago, the ice bucket challenge stormed the internet to raise awareness for amyotrophic lateral sclerosis (ALS), also called Lou Gehrig’s disease after the famous baseball player who broke barriers by announcing his diagnosis publicly. Despite recent, heavily publicized outbreaks, the measles still qualifies as a rare disease, as do subtypes of well-known cancers like lymphoma and leukemia.
Disease is also a broad term and includes viral infections, cancers, congenital conditions and conditions resulting from genetic mutations.
In the U.S., Congress defined a rare disease in 1983 with the Orphan Drug Act. According to Dr. Anne Pariser, director of the Office of Rare Diseases Research at NIH, no one knows for sure how the fewer-than-200,000 definition came about. Through monetary incentives like tax credits, grants and marketing exclusivity, this act aimed to get pharmaceutical companies to pay more attention to developing drugs in markets where they might not have a lot of patients, and therefore might not make a lot of money.
Today, the NIH reports that the Office of Orphan Products Development’s incentives to drug companies has brought “more than 400 drugs and biologic products for rare diseases” to the market. It’s been touted as a success: Before the Orphan Drug Act passed, only about one new treatment a year came to market for a rare disease, as opposed to an average of 11 a year since the act passed. But a 2017 investigation by Kaiser Health News found drugmakers taking advantage of the rules to increase profits, and a report from the Government Accountability Office released last year suggests the Food and Drug Administration should improve how they review applications for such drugs.
The NIH estimates that there are between 6,500 and 7,000 rare diseases, but that number is growing. For example, with cancers, the discovery of a specific cell marker or gene mutations leads to the medical community defining “orphan subpopulations.” Such subtypes need a specific therapy to target the specific cell markers or gene mutations. For example, one cause of a subset of a type of leukemia called chronic myeloid leukemia (CML) is a mutant chromosome. When researchers realized that, they were able to develop a treatment that fixed the specific genetic mutation.
Then there are patients like Kathy Zabel. Her disease is new, undefined and simply called an “undiagnosed disease of the peripheral nerve.” As far as her doctors at NIH can tell, she was likely born with several defective genes. “My DNA is frozen at NIH in hopes of finding a cause,” says Zabel, and in hopes of helping diagnose patients with similar conditions in the future.
The coalition of patients in the U.S. with rare diseases who helped get the Orphan Drug Act passed became the National Organization for Rare Disorders (NORD), which advocates for more research and patient support across all rare disorders. EURORDIS partners with NORD and rare disease organizations across the world to bring awareness to rare diseases each February on Rare Disease Day.
Pariser points out that as we understand the science better and define new rare diseases, it becomes more challenging to develop therapies. “It’s very important to remember that right now only about 5 percent of rare diseases have a treatment” option available, and “not more than 10 percent of rare diseases have ongoing research,” she says, which means millions of Americans with rare diseases like Kathy Zabel have to hope for more research before they can hope for a cure.