The Five Senses and Beyond: The Encyclopedia of Perception - Jennifer L. Hellier 2017

National Organization for Rare Disorders

The National Organization for Rare Disorders (NORD) is not only a professional organization for basic science and clinical researchers studying rare disorders—also called orphaned diseases—but also an organization for those with rare disorders, their families, and their communities so that our society can better support them. The vision of NORD has been divided into four core areas: (1) a national awareness and recognition of the challenges endured by people living with rare diseases; (2) a culture of innovation that supports basic and translational research to create diagnostic tests and therapies for all rare diseases; (3) access for all patients to the diagnostics and therapies that will extend and improve their lives; and (4) a regulatory environment that encourages development and timely approval of safe, effective diagnostics and treatments.

The U.S. National Institutes of Health (NIH) has defined a disease as rare if there are fewer than 200,000 Americans affected by the disorder. To date, there are about 7,000 identified rare diseases with many having an effect on sensory systems. Thus, there are roughly 30 million people in the United States (or approximately 1 in every 10 persons) who are living with a rare disease. For a complete list of rare disorders, please see the following link: https://rarediseases.info.nih.gov/gard.

To promote their cause, NORD is the official U.S. sponsor of Rare Disease Day, which is always the last day of February. Rare Disease Day started in Europe in 2008 and focuses on allowing patients and their families/caregivers to promote awareness of the disease and how it challenges their everyday lives. Most recently, 65 different countries participated in Rare Disease Day.

History

Prior to the late 1970s, rare disorders were not widely studied, and thus, new and specific treatments were not being developed for patients. In 1979, patients, families, and leaders who were part of a rare disease patient organization began an Ad Hoc Coalition to bring the lack of research and treatments to the attention of the U.S. Congress. By 1983, the coalition was successful in getting the Orphan Drug Act passed, which provides financial incentives for new drugs and treatments to be developed for rare disorders. This coalition eventually became NORD. Following is a short timeline that led to NORD and important legislation that is still in effect today.

•January 1, 1979: Dr. Marion J. Finkel, who worked for the Food and Drug Association (FDA), issued a report that focused on the lack of funding for drug development that would have limited commercial value, meaning medications for small patient populations. She is considered the leader in orphan drug development.

•January 1979—January 1980: Representative Henry Waxman (1939—) chaired the Subcommittee on Health and the Environment of the House Energy and Commerce Committee, and held hearings about the lack of orphan drugs. During this same time period, patient advocates formed the Ad Hoc Coalition to help campaign for better health care solutions for rare diseases.

•March 4, 1981: The rare diseases issue was brought to prime time on national television. Actor Jack Klugman (1922—2012) along with his brother and producer Maurice Klugman (1914—1981) made an episode of Quincy, M.E. (1976—1983) that highlighted problems for patients with orphaned disorders. The episode, titled “Seldom Silent, Never Heard,” was about the tragic death of a teenager with Tourette’s syndrome that sets Quincy to fight for orphan drug development.

•December 1982: The House and Senate passed the Orphan Drug Act. The act was originally put aside for work on other bills, but the Ad Hoc Coalition and other advocates for rare diseases mobilized support for it to be revived and become law.

•January 4, 1983: President Ronald Reagan (1911—2004) signed the Orphan Drug Act, making it a law of the United States.

•February 1, 1983: The first orphan drug (Panhematin®) was approved by the Food and Drug Administration (FDA) for acute intermittent porphyria, which can cause problems with the nervous system if porphyrin (a natural chemical needed for hemoglobin to bind red blood cells, iron, and oxygen) levels are too high.

•May 4, 1983: NORD was founded and Abbey Meyers becomes the first president of the 501(c)(3) organization, which provides support and advocacy for persons with rare disorders.

•January 1, 1984: The Orphan Drug Act Amendment was passed. This amendment included a definition of rare disorders: “any disease affecting fewer than 200,000 Americans or a disease with a higher prevalence but for which there is no reasonable expectation that a therapy would recover the cost of development.”

Jennifer L. Hellier

See also: Ageusia; Anosmia; Bell’s Palsy; Congenital Insensitivity to Pain; Horner Syndrome

Further Reading

Genetic and Rare Diseases Information Center (GARD). (n.d.). Diseases. National Center for Advancing Translational Sciences. Retrieved from https://rarediseases.info.nih.gov/gard

National Organization for Rare Disorders (NORD). (n.d.). Tools and resources. Retrieved from http://rarediseases.org/