Every week, fans of Discovery Health's Mystery Diagnosis are introduced to patients whose lives are transformed when unexplainable symptoms set them onto a path into the medical unknown. Patients tell their gripping stories to physician after physician, undergo test after test, until finally diagnosed.
Though the diseases, and many times the symptoms, are uncommon to most doctors, rare diseases - as a whole - represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure the diseases, and you have a serious public health problem.
In 1983 the U. S. Congress enacted the Orphan Drug Act to provide incentives for medical pharmaceutical and product developers to focus on treatments for victims of rare diseases. Since that time, there have been over 18,000 products studies as possible treatments for rare diseases, and 326 of those have been approved by the FDA. Most of these were for diseases that had no approved treatment. Imagine the relief that came to those few patients.
Who are those patients? How many are there? Here are a few figures to illustrate the breadth of rare diseases:
*A disease is considered "rare" in the US if it affects fewer than 200,000 people
*There are between 6,000 and 7,000 rare disorders that affect 25-30 million people in the US
*Approximately 50% of the people affected by rare diseases are children.
For more about the
National Organization for Rare Disorders (NORD) visit
www.rarediseases.org.
For more information about Rare Disease Day, see rarediseaseday.org.
