What is a rare disease?

A rare disease is an illness that affects a small percentage of the population, thereby limiting scientific research, clinical expertise and patient access to effective treatment options.

In the United States, a rare disease is generally considered to be a disease that affects fewer than 200,000 Americans at any given time. Rare diseases are also sometimes called “orphan diseases”.

Some rare diseases have patient populations of fewer than one hundred. However, collectively, rare diseases affect as many as 25 million Americans, according to the National Institutes of Health (NIH). That makes rare diseases and finding treatments for them a serious public health concern for the country.

Rare Disease Statistics

  • Approximately 7,000 rare diseases and disorders have been identified, with new ones being discovered every day
  • 80% of rare diseases are of genetic origin
  • Other causes: infections, allergies, environmental factors, degenerative and proliferative conditions
  • If all of the people with rare diseases lived in one country, it would be the world’s third most populous country
  • Rare diseases are responsible for 35% of deaths in the first year of life and 30% of children with rare diseases die before their 5th birthday

Cause of rare diseases

Although the exact cause of many rare diseases is unknown, most are inherited and caused by genetic changes or defects (mutations). These diseases are referred to as “genetic” diseases and can be passed from one generation to the next. Other rare diseases may be caused by infections, allergies or environmental factors such as diet, smoking and exposure to toxins.

Challenges for patients with rare diseases

For one-third of patients with a rare disease, receiving an accurate diagnosis takes between one and five years. Patients often have to travel long distances to consult the few doctors who are knowledgeable about their condition. As a result, the costs involved in diagnosis and treatment can be exorbitant, placing them out of reach of a large number of patients.

Support for patients with rare diseases

Patient support groups

Most patients diagnosed with a rare disease will never know anyone else with the same disease, meaning that they and their families are left to cope alone. This isolation, combined with the lack of information about rare diseases, makes living with a rare illness or condition even more stressful.

Fortunately, in recent years, the internet has allowed the proliferation of web-based support groups. These online groups enable patients with rare diseases to connect with others around the world with similar conditions. Not only does this provide much-needed emotional support, it also allows patients to share information and learn from each other's experiences.

Patient advocacy groups

Over the last two decades, patient advocacy groups such as the National Organization for Rare Disorders (NORD) have worked aggressively to draw attention to rare diseases and the lack of treatment options. NORD works to promote legislation, such as the Orphan Drug Act (ODA), that encourages research and development into often life-saving treatment options, and to provide easier access to such treatments.

The Orphan Drug Act (ODA) of 1983

Under the ODA, Congress introduced tax incentives and enhanced patent protection, marketing rights and clinical research subsidies. It also created a government-run research and development enterprise.

Before the ODA was enacted, only 38 drugs to treat orphan diseases were approved in the U.S1. However, from 1983 to 2015, the FDA approved 552 orphan drugs and granted orphan designations to 3,633 compounds.

As of 2010, 200 of the roughly 7,000 officially designated orphan diseases have become treatable2.

Clearly, much work remains to be done to provide Americans with rare diseases with affordable access to the orphan drugs they need, a critical mission to which Medunik USA remains firmly committed.