Rare Diseases & Orphan Drugs

What Is a Rare Disease?


A rare disease is a life-threatening, seriously debilitating or serious and chronic condition affecting a fairly small number of patients.

According to the Canadian Organization for Rare Diseases (CORD), rare diseases affect one in 12 Canadians (two-thirds of whom are children). That represents approximately 3 million Canadians and their families facing a debilitating disease that severely impacts their lives, making finding treatments for them a serious public health concern for the country.

Currently, only 60% of treatments for rare disorders make it into Canada and most get approved up to six years later than in the USA and Europe.

Médunik Canada strives to improve this situation. We believe that Canadians with rare diseases are no less deserving of effective and affordable treatment options than those with more common ailments.

Rare Disease Statistics

  • Worldwide, approximately 6,000 to 8,000 rare diseases and disorders have been identified, with new ones being discovered every day
  • More than 80% of rare diseases are of genetic origin
  • Other causes: infections, allergies, environmental factors, degenerative and proliferative conditions
  • Rare diseases are responsible for 35% of deaths in the first year of life and 30% of children with rare diseases die before their fifth 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

A large number of Canadians with rare diseases have issues accessing the appropriate therapy for their condition.

Search for qualified help may be time-consuming due the limited number of specialists and may imply traveling a long distance to get the consultation thus elevating the cost of care for such patients.

For one-third of patients with a rare disease, simply receiving an accurate diagnosis takes between one and five years.

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 Canadian Organization for Rare Disorders (CORD), the Regroupement québécois des maladies orphelines (RQMO) (in French only), and the National Organization for Rare Disorders (NORD) have worked aggressively to draw attention to rare diseases and the lack of treatment options. CORD, RQMO and NORD works to promote legislation, such as the National Strategy for Drugs for Rare Diseases, and the Québec Policy for Rare Diseases (in French only), to encourage research and development into often life-saving treatment options, and to provide easier access to such treatments.

Clearly, a lot of work remains to be done to provide Canadians with rare diseases with affordable access to the orphan drugs they need, a critical mission to which Médunik Canada remains firmly committed.

Additional information about rare diseases is available on the following links:

What Is an Orphan Drug?

Orphan drugs are medications or other medicinal products used to treat rare diseases or disorders. They are called “orphan drugs” because due to their limited market, few pharmaceutical companies pursue research into such products. Selling to only a small group of patients, drug manufacturers would be unlikely to recover development and marketing costs, let alone make a profit by producing the product.

The following link offers additional information about orphan drugs:

Orphan Drugs: A Global Crusade

Abbey S. Meyers wrote this memoir to document the issues that led to the enactment of the “Orphan Drug Act of 1983” and the extraordinary scientific and industrial progress that ensued, including the development of Orphan Drug legislation in other industrialized countries around the world.

Photo of Abbey S. Meyers

About the Author

Ms. Meyers is the founder and Past-President of the National Organization for Rare Disorders (NORD), a coalition of national volunteer health agencies and a clearinghouse for information about little-known illnesses. Ms. Meyers currently holds the honorary title of President Emeritus of NORD. She also served as Honorary President of the European Organization for Rare Disorders (EURORDIS) before retiring from role as a leader of the rare disease consumer movement in 2009.

During her professional career in the United States, Ms. Meyers served as Consumer Representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee (1989-92), the NIH Recombinant DNA Advisory Committee (RAC) (1993-96), the FDA Biological Response Modifiers Committee (1995-99) and the HHS National Human Research Protections Advisory Committee (2000-2002).

Ms. Meyers is the recipient of the FDA Commissioner's Special Citation for Exceptional Dedication and Achievements on Behalf of All People Afflicted with Rare Disorders (1988) and the Department of Health and Human Services Public Health Service Award for Exceptional Achievements in Orphan Drug Development (1985). She holds an honorary doctorate from Alfred University in New York and is considered to be the primary American consumer advocate responsible for the passage of the Orphan Drug Act of 1983.

Throughout her career, Ms. Meyers has sat on numerous committees, boards and commissions dealing with orphan diseases at the national and international levels.

She is the author of many articles and papers related to this topic and has been a frequent speaker at conferences across North America, Europe and Asia.

For more information about her work, please visit abbeysmeyers.com.