Rare Disease Day

Rare Disease Day®

What is Rare Disease Day?

Rare Disease Day is an awareness event that takes place every year on the last day of February, February 28 or February 29 in Leap Years. It is the rarest of calendar dates to underscore the nature of these rare diseases. Rare Disease Day focuses public attention on rare diseases as a public health concern. It also emphasizes the need for research. Wear a zebra enamel awareness ribbon pin in either a personalized or non-personalized version to call attention to Rare Disease Day.

National Organization for Rare Disorders (NORD®) sponsors Rare Disease Day. NORD is the leading independent, nonprofit organization committed to the identification, treatment, and cure of rare diseases. Typically, it takes 5 years or more to receive a correct rare disease diagnosis.

When was Rare Disease Day established?

Rare Disease Day was first observed in Europe in 2008. It was established by EURORDIS, the European Rare Disease Organization. Then, in 2009, EURORDIS asked NORD to be its partner in this initiative and to sponsor Rare Disease Day in the United States.

What is a rare disease?

In the United States, a disease is considered “rare” if it affects fewer than 200,000 individuals. More than 7,000 rare diseases exist. Approximately 30 million Americans live with rare diseases. This equates to 1 in 10 Americans, or one on every elevator and four on every bus. The majority of these diseases are genetic. Some countries and the European Union have similar, but slightly different definitions.

What are some examples of rare diseases?

Rare diseases are present across the medical spectrum. Some are widely recognized by name, such as cystic fibrosis. Others, however, are less known, such as cat eye syndrome. Most cancers (all but a few types) are rare. There are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone, and skeletal disorders. There are also rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems. Many rare diseases are named for the physicians who first identified them. A few are named for patients or even the hospitals where they were first identified.

Where can I find out more about rare diseases?

The National Organization for Rare Disorders (NORD) offers a database of approximately 1,300 reports on specific rare diseases written in patient-friendly language on its website, www.rarediseases.org. The most complete listing of rare diseases in the U.S. is on the website of the NIH Genetic and Rare Diseases Information Center (GARD), www.rarediseases.info.nih.gov/diseases .

Who do rare diseases affect?

Many, but not all, rare diseases are genetic. For example, some are apparent at birth while others do not appear until much later in life. In addition, approximately two-thirds of Americans with rare diseases are children.

How many rare diseases have treatments?

Of the 7,000 known rare diseases, approximately 95 percent have no treatment. Many rare diseases and disorders are not studied by medical researchers. Often, patients are treated “off-label” (treatments that are not approved by the FDA for the specific disease). This can lead to insurance reimbursement problems.

What are some of the problems people with rare diseases experience?

• Difficulty in obtaining an accurate diagnosis (this can take years, which can be critical for stopping or halting the progression of a disease).
• Limited treatment options.
• Little or no research conducted on the disease.
• Difficulty finding physicians or treatment centers with experience for a particular disease.
• Paying for treatments that are generally more expensive than those for common diseases.
• Reimbursement issues related to private insurance, Medicare, and Medicaid.
• Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease.
• Feelings of isolation and abandonment or “orphaned” by our health care system.

What can I do to participate in Rare Disease Day?

You can get involved in Rare Disease Day. To find the activity that is right for you, visit www.rarediseaseday.us or the global website www.rarediseaseday.org. To get involved throughout the year, visit National Organizations for Rare Disorders (NORD)® at www.rarediseases.org.

Established in 1983, NORD is the largest rare disease organization in the U.S. and the leading independent nonprofit representing all patients and families affected by rare diseases. National Organizations for Rare Disorders is committed to the identification, treatment and cure of all 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD provides programs of advocacy, education, research, and patient and family services to improve the lives of all people living with rare diseases.

NORD represents more than 230 disease-specific member organizations and collaborates with many other organizations in specific causes of importance to the rare disease patient community.