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Rare Diseases

Home > Illnesses and Disabilities Home > Types of Illnesses & Disabilities > Rare Diseases

A rare disease is a condition that affects fewer than 200,000 people nationwide. Some of them affect fewer than a hundred people. There are close to 7,000 rare diseases, many of which are caused by defective genes. Most rare diseases are fatal.

Some rare diseases include:

• Amyotrophic lateral sclerosis (ALS), also called Lou Gehrig's disease. In ALS, the nerve cells that send messages to your voluntary muscles—the ones you can control, like in your arms and legs—die. At first, this causes mild muscle problems. You may have trouble walking, writing, or speaking. Eventually, you lose your strength and cannot move. When muscles in your chest fail, you cannot breathe.
• Fabry disease. In Fabry disease, there is a build up of certain fat-like substances in the eyes, kidneys, and blood vessels. People with Fabry disease often survive into adulthood but are at increased risk of heart attack, stroke, and kidney failure.
• Spasmodic torticollis. This is a painful condition in which your neck muscles contract (shorten) on their own, causing your head to twist or turn to one side.

If you have a rare disease, it can be difficult to find a specialist who is familiar with your disease. If treatments exist, they are sometimes very expensive, because only a few people use them. On-line support groups can help people affected by rare diseases connect no matter where they live.

Altogether, rare diseases affect as many as 25 million Americans. That makes rare diseases—and finding treatments for them—an important public health concern.

Additional Resources

Publications

1.   Financial Assistance Information - This document provides resources that may help in finding information on financial aid for medical treatment.

   http://www.genome.gov/11008842

2.   Genetics Home Reference - Genetics Home Reference, the National Library of Medicine’s web site for the consumer provides information about genetic conditions and the genes or chromosomes responsible for these conditions.

   http://ghr.nlm.nih.gov

3. Genetic and Rare Conditions Site (Copyright © University of Kansas Medical Center) - This web site contains information and links about many genetic and rare conditions. It also links to teaching activities for educators about some of the conditions.

   http://www.kumc.edu/gec/support/

Organizations

1.   Genetic and Rare Diseases Information Center
2.   National Human Genome Research Institute, NIH, HHS
3.   Office of Rare Diseases, OD, NIH, HHS
4. Clinicaltrials.gov
5. Genetic Alliance, Inc.
6. National Organization for Rare Disorders
7. Rare Diseases Clinical Research Network

= Indicates Federal Resources

Content last updated May 15, 2008.