The National Organization for Rare Disorders (NORD) held a Regional Membership Meeting in Orlando, FL on May 1, 2015. Leslie Edwin attended for the CSRF; also in attendance were representatives from eleven patient organizations and one pharmaceutical company. 

To give a little history on NORD, in the decade leading up to the early 1980s less than 10 treatments for rare diseases were approved by the U.S. Food & Drug Administration (FDA). In the late 1970s, the FDA issued a call to address this problem, and a group of patient advocates came together to help. In 1983, the Orphan Drug Act was enacted, and NORD was founded that same year on the premise that “alone we are rare, together we are strong.” The first President to serve was Abbey Meyers, a mother of a child with a rare disease who had been instrumental in getting the Orphan Drug Act passed.

The Orphan Drug Act allows for “orphan status” on drugs used to treat rare diseases, which are defined as diseases that affect less than 200,000 Americans and for which there is no reasonable expectation of recovering the cost of research and development. Makers of orphan drugs receive tax credits and other financial incentives that help offset the costs of bringing the medications to market. NORD’s founders came together for this first important piece of legislation more than 30 years ago, and today NORD is one of the most widely-known nonprofit organizations in the rare disease community. They currently work with about 1200 patient advocacy organizations and report that there are approximately 30 million Americans living with rare diseases. Only about 350 of the more than 7000 currently recognized rare diseases have treatments that are approved by the FDA, so there is still plenty of work to be done. NORD’s mission statement includes a commitment to “the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.”

Patient Organization Statistics

The meeting began with an overview of the information collected in a 2014 survey regarding the patient organizations that work with NORD. Of the 7000 rare diseases out there, only about 1200 have membership organizations. 71% of organizations have fewer than five full-time employees, while 17% have 5-15, 7% have 15-30, 3% have 30-50, and 2% have more than 50. Data was not available for the number of organizations that are 100% volunteer, such as the CSRF. The 1980s and 1990s saw the highest number of newly founded organizations, with the biggest upswing being in the 1960s and a notable downswing since 2010. Most founders are still a CEO, a Board Member, or an Advisor. Regarding funding, most organizations have multiple sources: 90% have individual donors, 58% use annual events, 57% hold annual campaigns, 54% have corporate sponsors, and 45% receive foundation grants. 78% of the groups surveyed have strategic plans, which identify mission and goals in hiring, fundraising, and board building.

New Legislation

There are a number of bills relevant to the rare disease community moving through the government right now in various stages of approval. Collectively they are proof that our lawmakers are making changes to address the challenges faced by rare patients and their caregivers.

The 21st Century Cures Act (H.R.6) is a lengthy and complex bill (350+ pages at press time) that passed in the House on July 10, 2015. Opinion within the medical community is divided. You can read more about this bill at http://energycommerce.house.gov/cures.

The Rare Pediatric Disease Priority Review Voucher Program in its current form is scheduled to end in March, 2016. This program allows companies with drugs designated for rare pediatric patients to get through the FDA process more quickly.

The Ensuring Access to Clinical Trials Act (S.139 and H.R.209) is an amending bill to repeal the end of a previous act which will allow rare disease patients to continue to exempt up to $2,000 earned annually in medical trials from Medicaid and SSI benefit calculations. This bill was passed by the Senate on July 16, 2015.

The Patients’ Access to Treatments Act (H.R.1600) was introduced to the House in March 2015 and forbids insurance companies from charging higher co-pays and co-insurance for specialty drugs.

The FDA Safety Over Sequestration Act (H.R.1078) was introduced on February 25, 2015 as an amendment to the Balanced Budget and Emergency Deficit Control Act of 1985. It aims to exempt certain FDA user fees from sequestration.

The Advancing Care for Exceptional Kids Act (S.298 and H.R.546) was introduced on January 27, 2015 and allows states to pay for kids’ complex conditions under Medicaid. There is strong bi-partisan support for this bill.

It is always your right to contact your representatives to express your support or dissatisfaction with pending laws – a small group of patient advocates took up the cause of the Orphan Drug Act back in 1983 when it got sidelined in Congress, and we see the results of that. Our voices can be very powerful instruments when they are properly trained. You can find information on your representatives and relevant legislation at https://www.opencongress.org/.

Rare Action Network (RAN)

The goal of this new initiative is to increase state-based advocacy activity and member capacity. NORD feels that patient data collection is vital, particularly when related to the barriers faced in seeking treatment. Meaningful data can be used to back up policy action. On July 1, 2015, the RAN portal was created on the NORD website (http://rarediseases.org) under the “Advocate” tab.

What sets the RAN apart from other similar initiatives is personal engagement in patient-oriented, outcome driven efforts. NORD would like to identify Ambassadors in core states to begin organizing other like-minded people from member organizations.

Physician Education

Clearly, physician education is a top priority when it comes to identifying and treating rare diseases. It is common to hear that a Cushing’s patient has seen several doctors and spent a lot of time trying to get a proper diagnosis. It can be exasperating to have to convince a medical professional that you have a disease that they consider to be “too rare”. Many of us have been the first Cushing’s patient our doctors have ever seen, and many of us feel that Cushing’s has a much higher prevalence than is currently reported.

Thankfully, rare diseases are catching the eyes of medical students. They are eager to learn about rare conditions and less likely to have opinions set in stone. They will start treating more rare patients because they will be able to correctly diagnose more rare diseases. Mary Dunkle, Vice President of Educational Initiatives at NORD, quoted a doctor as saying that “med school is like trying to take a drink of water from a fire hydrant.” As long as we continue to present information to these future doctors, nurses, and specialists, we stand a good chance of having that information recalled when a patient presents with symptoms of a rare disease.

NORD has a Medical Student Liaison and Student Advisors on staff, and they offer free membership to students. At a recent American Medical Student Association event, 75 students enthusiastically joined NORD. They seek out the patient experience through these opportunities to speak with people who have endured a rare disease. We were privileged to have our D.C. area support group leaders Stacy Hardy and Renee Dorsey represent the CSRF at this event. NORD also publishes a quarterly newsletter especially for students.

A Bountifully Helpful Resource

NORD has been establishing relationships within the rare disease community for decades, and we member groups stand to greatly benefit from the availability of these shared connections. There are frequent regional and national meetings with scholarships available. NORD maintains a Linked In presence with information on job and collaboration opportunities, research grants, awareness days, and campaigns. Rare patients can, in some cases, receive financial assistance for travel, co-pays, and treatment, including costs associated with Cushing’s. NORD was the first Patient Assistance Program in the country and currently serves about 4000 patients each year. They have a strategic partnership with the European Organization for Rare Diseases (EURORDIS) which is dissolving the barriers to global registries and shared experiences. Patient groups of any size can submit articles, puzzlers, or other “spotlight” information through NORD to reach huge audiences via communication partnerships with Medical Societies and publishing entities like Frontline Medical Communications (30 medical journals) and Medscape (web resource for health professionals). Our membership in NORD is an invaluable tool that we can leverage in our efforts to provide educational opportunities and research support for better treatment and understanding of Cushing’s.

Author: Leslie Edwin, CSRF Director of Support Groups, Summer, 2015