What Does It Mean to Be a Rare Disease?

Chances are, you or someone you know has been diagnosed with a rare disease and that is why you are here, reading this now. You are not alone if you are not fully aware of what a rare disease is, who it impacts, and how it is treated.

Understanding what a rare disease is, why narcolepsy is considered one, and what support resources are available to those impacted by narcolepsy can help you or your loved one find relief.

What is a rare disease?

A rare disease is one that affects fewer than 200,000 people in the United States. In the past, rare diseases did not have treatment development because drug companies did not fund research and development. Laws have since been passed to encourage drug companies to develop treatments for rare diseases.¹

There are an estimated 7,000 rare diseases in the United States. Because most rare diseases are not tracked, the exact number of rare diseases is not fully known.¹

What treatments are being developed for rare diseases?

Although research, development, and funding for rare diseases have increased significantly over the years, many rare diseases do not have treatment.

National and state organizations have been formed to help in the treatment research, development, and funding of rare diseases.

Is narcolepsy a rare disease?

Narcolepsy is classified as a rare disease. The exact number of Americans impacted by narcolepsy is unknown, but it is estimated to be 1 in every 2,000 people in the United States. Because narcolepsy can go undetected and is underdiagnosed, this number is likely much higher.²

Many individuals are diagnosed with narcolepsy during school age, when falling asleep becomes problematic. However, it is not uncommon for many others to wait 10 to 15 years before receiving a diagnosis.³

What role does research play in rare diseases?

Studies and research are instrumental in the evolution of treatment and disease management for rare diseases. Because of the difficulties in diagnosis, research and development may be much slower for rare diseases such as narcolepsy.

Participation in clinical trials may be a good opportunity to take part in the advancement of treatment and management of narcolepsy. Start a conversation with your doctor about your interest in clinical trial participation. There might be a clinical trial that not only helps you, but could also advance the treatment of narcolepsy for others.

What advocacy opportunities are there for narcolepsy?

Advocacy for rare diseases like narcolepsy is important for continued research, development, and treatment of the disease. Advocacy for narcolepsy may include:^4,5

• Participation in Rare Disease Week: This free, week-long event held in Washington, D.C., brings together more than 500 disease advocates who learn how to lobby Congress. Advocates gain valuable information about how to help develop and change laws related to rare diseases.
• Supporting and joining advocacy groups: These can help you connect with others who are impacted by narcolepsy, and provide valuable information and education about the disease. The National Organization for Rare Disorders (NORD) is a good place to start and learn more about rare disease advocacy.

Remember: having a rare disease such as narcolepsy may seem isolating, but you are not alone. Find your voice and the support you need by looking into advocacy, support groups, and clinical research. Rare disease treatments and advancements rely on the advocacy and determination of those like you.