Today is Rare Disease Day


The most satisfying aspect of my job is when I meet a patient who is suffering from a rare disease that until very recently was untreatable, but which today can be treated with a newly-approved medication. Last May, at my organization's annual dinner, we invited four patients to come to the podium to discuss their diseases. They then made presented awards to the presidents of the companies that had developed a new drug already being used to treat their disease. I saw tears come to the eyes of the people attending the dinner. We all know one or more people who are alive today because of the remarkable medical advances made very recently. This includes the many new treatments for both rare and more common cancers. The latest report from the American Cancer Society noted that between 1991 and 2010, there was a 20 percent decline in the overall death rate from cancer. The organization that I head, the National Organization for Rare Disorders (NORD), focuses on patients with a rare disease, which is defined as a disease that affects 200,000 or fewer patients in the U.S. Many rare diseases are cancer, and as we learn more about cancer, more and more will be classified as "rare."This week is a special week for all patients with a rare disease, as Friday, Feb. 28, is commemorated around the world as Rare Disease Day.We designate the last day in February as Rare Disease Day because every four years, when there is a leap year, the last day of the month is February 29. It truly is the rarest date on the calendar. This year, my thoughts turn to the remarkable progress we are making in developing new treatments. Cancer research is especially exciting. Cancer immunotherapy – using the body's own immune system to fight cancers – promises to lead to new therapies for solid tumor conditions such as melanoma, non-small cell lung cancer and bladder cancer.At NORD, we rededicate ourselves this week to the tasks that are especially critical for the 30 million Americans with a rare disease. Five tasks stand out:1. Supporting research for rare diseases, including cancers that are rare. It is ironic that we are on the cusp of so many scientific advances, at a time when the research dollars are becoming scarcer. At NORD, our goal is to support the federal and private commitment to medical research.2. Enhancing the capability of physicians to diagnose rare diseases. Most physicians have little experience in diagnosing a rare disease, some of which affect a handful of people. For many diseases, it can take half a dozen years, or more, before an accurate diagnosis is made. At NORD, we support systems that provide broader education for physicians in enabling them to diagnose rare diseases more quickly and with greater accuracy.3. Expediting clinical trials. Testing new treatments is always time consuming, especially when little is known about a disease, and when there are few patients to test. At NORD we are committed to increasing our knowledge about how a rare disease naturally progresses, with no intervention or with existing interventions, because we can then more easily assess the effectiveness of a new treatment. And we also have established networks of patients with rare diseases so that recruitment for clinical trials can be expedited. 4. Expediting new drug approvals. We are fortunate to have officials at the FDA who understand that, sometimes, it is not feasible to test a new treatment for a rare disease the same way that a treatment for a common disease would be tested. The FDA has demonstrated great flexibility in assessing new treatments for rare diseases, and we at NORD support that spirit.5. Assuring access to new treatments. Our health care delivery and reimbursement systems are changing. There are more patients entering the system, and better and more expensive treatments are being developed. At NORD, we can committed to working with insurers -federal, state and private – to assure that new treatments become available in a timely way. At NORD we also pioneered patient assistance programs that enable patients in need to receive the support they need. One more thought as we commemorate Rare Disease Day, and that has to do with the new empowerment of the patient. We are seeing more and more personalized drugs – drugs that are created for an individual patient. As personalized medicine becomes a reality, patient involvement in the development process becomes ever more important. The word that I use is "patient-centricity." We at NORD are committed to making the patient the center of the health care system.I hope that everyone who is concerned about medical advances – and that should be every one of us – takes a few minutes this Friday to think about Rare Disease Day, and about the progress we have made, the progress we are making, and the challenges that remain.Peter L. Saltonstall is the president and CEO of the National Organization for Rare Disorders (NORD), a nonprofit organization representing the 30 million Americans with rare diseases. Learn more about NORD at

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