Looking for answers

Despite growing numbers of orphan drugs, patients with rare disorders still face diagnosis challenge

Jim Cirigliano
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DANBURY, Conn.—Notwithstanding great strides in the treatments of rare diseases since the passage of the U.S. Orphan Drug Act of 1983, a recent online post by the National Organization for Rare Disorders (NORD) revealed that lengthy delays in receiving an accurate diagnosis continue to thwart many patients seeking a medical solution to a rare disorder.
The issue came to light after NORD posed a question on its Facebook page asking its members, “How long did it take you or a loved one to get an accurate diagnosis?” Respondents revealed anecdotally what many in the field have already recognized—a troubling trend of long delays in diagnosis, misdiagnosis and missed diagnoses surrounding rare disorders.
The Orphan Drug Act of 1983 created a series of incentives that encouraged pharmaceutical companies to pursue drugs that would otherwise be unprofitable due to their limited patient pools. These incentives include tax breaks, research subsidies, grants for drug development and market exclusivity. Since the law’s passage 30 years ago, more than 350 orphan drugs have earned approval by the U.S. Food and Drug Administration (FDA), and about 200 rare diseases are now considered treatable.
After the Orphan Drug Act became law, the same principal group of advocates that pushed for the bill’s passage formed NORD to support patients with rare disorders. The organization’s goals have included supporting research of rare disorders, helping patients gain access to therapy and developing treatments for patients whose rare diseases have no FDA-approved therapy.
Marking its own 30th anniversary this year, NORD has celebrated the successes of the Orphan Drug Act and the progress that has been made on behalf of patients with rare disorders, but it has come to realize that for many patients, getting an accurate diagnosis remains a significant, if not primary, concern. In light of this ongoing challenge, NORD has recently added “promoting diagnosis” to the strategic priorities stated for the organization.
To this end, NORD has begun outreach to physicians and other medical professionals, hoping to educate them about rare disorders and the possibility that some of their patients may be suffering from a condition as yet undiagnosed. NORD has begun to develop physician guides written by leading experts on specific rare diseases, making the guides free and available to physicians around the world at NORDPhysicianGuides.org.
Rare diseases often show symptoms that resemble those of more common disorders, making them easy for medical professionals to misdiagnose or to incorrectly characterize as something far more familiar. Many rare diseases affect multiple body systems, which only adds to the complexity in pinpointing a diagnosis.
“Sometimes patients say to us that they wish there was a ‘Dr. House’ for their disease,” says Mary Dunkle, vice president of communications at NORD. “What they mean is that they are hoping to find a diagnostician who is focused on solving mysteries—who embraces the challenge of taking disparate and seemingly unrelated medical events, signs and symptoms and figuring out how they all point to a specific diagnosis. It’s partly just a matter of encouraging a change of mindset—to be willing to listen carefully and remain open to all possibilities.”
Patients and their families can aid this process, as well. NORD encourages patients to keep lists of any symptoms or events that may be significant and to discuss them with their physicians. Patients should also ask questions and become as educated as possible, taking a more active and participatory role in the process of diagnosing unresolved medical issues.
Momentum is building both within the community of medical professionals and among patient advocacy groups for a multidisciplinary approach to diagnosing rare disorders. The National Institutes of Health (NIH) established its Undiagnosed Diseases Program in 2008, in which medical experts at the NIH Clinical Center combine forces to crack the cases of patients who are accepted into the program. The program is scheduled to expand to several satellite centers in the United States in 2014. The University of Alabama at Birmingham has established an Undiagnosed Diseases Program of its own as well.
In addition, many patient organizations are creating programs specifically designed to educate medical professionals about the disease their members face.
“Many of our member organizations would like to create guides on their diseases, and we’re looking into possibly getting a grant from a foundation so that we could make this an option for a large number of patient organizations,” says Dunkle.
NORD advocates for continued governmental funding for rare disease research, and specifically for the NIH Undiagnosed Diseases Program, even in a time of budget cuts and sequestration.
“Funding specifically for rare disease research is a relatively small portion of the total NIH budget now, but there are many cases in which study of rare diseases can lead to better understanding of more common ones,” says Dunkle. “A strong argument can be made for at least maintaining the current level of funding or, better yet, increasing it.”

Jim Cirigliano

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