Rare diseases are an important public health issue.
February 12, 2015
By Peter L. Saltonstall
Each year since 2009, the National Organization for Rare Disorders (NORD) has been the official U.S. sponsor of Rare Disease Day®1. This is a day celebrated around the world that is dedicated to elevating public understanding of rare diseases and to calling attention to the special challenges faced by the rare disease community.
Rare Disease Day always takes place on the last day of February. Every four years, this is February 29th – the rarest date on the calendar – underscoring the nature of the diseases that our patients face.
Alliance of International Advocacy Groups
Rare Disease Day was originally established by EURORDIS (Rare Diseases Europe) in 2008. Through our strategic partnership, EURORDIS asked NORD to launch it in the U.S. the following year. Each year since then, NORD, EURORDIS and other national alliances around the world have planned each annual Rare Disease Day observance, selecting a theme together and creating special resources to be used worldwide. Last year, 84 nations participated.
One of the wonderful things about this initiative is that it draws together rare disease advocates from around the world to join together in displaying the same logo and highlighting the same messages to emphasize our connection and our common cause.
Advocacy Activities Highlight Rare Disease Day
The special web site that NORD has created for Rare Disease Day (http://rarediseaseday.us) is well worth visiting. It sets forth the many activities that are planned in the U.S. at state houses of government, on college campuses, at government agencies, at medical institutions, and in schools. The website also explains how individuals, companies or other organizations can become a Rare Disease Day Partner:
- Support the theme of the day — that rare diseases are an important public health issue;
- Agree to promote the day, such as posting the Rare Disease Day logo on a website or in publications; and
- Agree to observe the day in the non-commercial spirit in which it was intended.
This website also links to the website hosted by EURORDIS at www.rarediseaseday.org where activities planned around the world are posted.
Handprints Across America
This year, as in previous years, we also will invite supporters to join with us in a program called Handprints Across America. This is a way for individuals to show their support for the day by printing the logo flier from the website and submitting a photo of themselves or a group of people holding it. You also can purchase a Rare Disease Day T-shirt to wear instead of holding the flier. All submissions will be included in NORD’s “Handprints Across America Gallery” for 2015.
On the website, you can also read about many other ways to get involved. “State House Events” are being organized in more than 30 states to educate state elected officials about the challenges of living with a rare disease. Events are being planned at schools, universities, hospitals and companies where patients, family members and others will speak about their experiences.
Rare Disease “Tweetchat”
NORD will also be co-hosting a “tweetchat” with ABC News and will be sharing stories with local, state and national reporters to put a human face on rare disease issues and to show the impact of these often devastating diseases on the lives of children and adults.
Sean Ferrer, the son of actress Audrey Hepburn, is working with NORD and EURORDIS as the “Rare Disease Day Ambassador.” Audrey Hepburn died of an extremely rare disease known as pseudomyxoma peritonei, and Sean became an advocate for the rare disease community to carry on the legacy of her humanitarian work on behalf of children. More than half of the patients affected by rare diseases are children.
In this blog, I want to address the topic of why we need a day each year dedicated to rare diseases. There are about 7,000 rare diseases that have been identified, and with advances in genetics, additional diseases continue to be identified. A rare disease is defined by U.S. federal law as a disease that affects 200,000 or fewer people, but there are many diseases that affect just a handful of people. Because most rare diseases have a genetic component, rare diseases are usually identified in childhood.
While each rare disease affects a relatively small number of people, collectively the 7,000 rare diseases affect about 30 million Americans, or nearly one in ten. That does not include the caregivers and families.
Patients Face Special Challenges
People with rare diseases have special challenges. Many of the diseases are difficult to diagnose; in some cases, it takes years. For most rare diseases, there are no FDA-approved treatments. In all, about 450 drugs have been approved by FDA to treat rare diseases – though we are encouraged that for the past few years, a third or more of the new drugs approved by FDA have been for rare diseases.
We support Rare Disease Day to focus international attention on the rare disease community – on the challenges of diagnosis and treatment and on the courage displayed by so many people, both patients and caregivers. NORD supports many programs for patients with rare diseases, and we believe it is critically important for legislators, state and local officials, the medical community, payers, and others to have a better understanding of the unique and complex issues involved.
I am delighted that CSL Behring has been an active supporter of NORD and has a continuing commitment to the rare disease community. I encourage all of you who are reading this blog to learn more about Rare Disease Day and about NORD, and hope you will join us in observing this important and special day.
Peter L. Saltonstall is President and CEO of National Organization for Rare Disorders