Rare Diseases Resource Center

Rare diseases are health conditions that affect a small percentage of the population. They may be chronic, genetic, or degenerative and can affect any body part, causing a broad spectrum of symptoms. Treatment may involve specialized therapies, medications, or supportive care, but while some rare diseases are treatable, others require lifelong management. Diagnosis can be complex and take a long time, and finding an encouraging community is challenging but can support a better quality of life.

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FAQ

What defines a disease as rare?

In the United States, a rare disease is one that affects fewer than 200,000 people. Around 10,000 diseases fit this definition. However, there’s no single definition that applies everywhere in the world.

Are most rare diseases genetic?

Many rare diseases develop during childhood due to genetic or inherited health issues. However, some can occur for other reasons, such as infection.

How are rare diseases diagnosed?

Diagnosis can be challenging and may involve genetic testing. It can take a long time, and misdiagnosis is common due to limited research and understanding. Finding a specialist with experience in certain rare diseases may support a more accurate diagnosis.

Is there a cure for most rare diseases?

No consensus exists on an exact number of curable rare diseases, and only a limited number have licensed treatments. Doctors may be able to manage specific symptoms of rare diseases, but this may require lifelong support.

Where can you find support for rare diseases?

Advocacy groups and support organizations can connect people with rare diseases with information, legal advice, diagnostics, care resources, financial aid, scholarships, and social, emotional, or mental assistance.

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