Rare disorders are gaining attention among researchers

Q. A friend of mine was diagnosed with Jumping Frenchmen of Maine. Have you ever heard of this?

Not until now. Jumping Frenchmen of Maine is a rare, unexplained disorder that produces an extreme startle reaction to a sudden noise or sight.

Jumping Frenchmen of Maine was first identified during the late 1800s in Maine and the Canadian province of Quebec. It was discovered among an isolated population of French-Canadian lumberjacks. Since the discovery, the extreme startle reaction has been found in other societies in many parts of the world.

Jumping Frenchmen of Maine is one of almost 7,000 rare diseases. In the United States, a disease is classified as rare if fewer than 200,000 people have it. About 25 million people in the U.S. have a rare or orphan disease.

Some familiar orphan diseases are cystic fibrosis, Lou Gehrig's disease and Tourette's syndrome. Orphan diseases don't attract as much research funding as major diseases because they aren't as profitable to the healthcare industry.

In 1983, Congress passed the Orphan Drug Act. The ODA created financial incentives for drug and biologics manufacturers, including tax credits for costs of clinical research, government grant funding, assistance for clinical research, and seven-year periods of exclusive marketing. At the same time, federal programs began encouraging product development and clinical research for products targeting rare diseases.

Before Congress enacted the ODA, only 38 drugs were approved in the U.S. specifically to treat orphan diseases. From the passage of the ODA until May 2010, the FDA approved 353 orphan drugs and granted orphan designations to 2,116 compounds. As of 2010, 200 of the roughly 7,000 officially designated orphan diseases have become treatable.

An excellent source of assistance for these diseases is the National Organization for Rare Disorders, a 501(c)(3) organization. NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 280 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. For more information, contact the National Organization for Rare Disorders, 55 Kenosia Ave., Danbury, CT 06810, or go to www.rarediseases.org.

New rare diseases are discovered every year. Most are inherited and caused by alterations or defects in genes. Others can be caused by environmental conditions.

To browse through a list of rare diseases, go to the Genetics Home Reference website at: http://ghr.nlm.nih.gov/BrowseConditions.