What is a rare disease?

A rare disease (also known as an “orphan 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.

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.

Medunik Canada refuses to accept 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. That’s why we have made it our mission to bring as many proven orphan drugs as possible to the Canadian market.

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 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

For one-third of patients with a rare disease, simply receiving an accurate diagnosis takes between one and five years. And that’s just one of the many challenges they face. Others include:

  • The limited number of specialists or experts makes it difficult to find a healthcare provider who is knowledgeable about their condition.
  • Once a qualified expert has been identified, he or she may be located at a great distance from the patient.
  • For many patients, their medical condition, financial considerations and other factors make travel to consult the qualified expert difficult or impossible.
  • Delayed diagnosis means delayed or incorrect treatment, which may result in worsening of symptoms.
  • Lack of information and scientific knowledge about their condition.
  • Small market size means fewer research initiatives into effective treatment options.
  • Condition-specific support organizations do not exist for every rare disease.
If you or a loved one is experiencing unexplained symptoms:

Speak up and ask questions. Unexplained symptoms should be brought to the attention of your healthcare provider. Even if he or she cannot diagnose your condition, you may be referred to a specialist who can help.

Be an assertive, proactive patient. Find a healthcare provider who is willing to listen to your symptoms and who is interested in finding a diagnosis. Follow your instincts. If your healthcare provider does not appear to take your symptoms seriously, seek a second opinion.

Be prepared. Providing your healthcare provider with a complete and accurate description of symptoms is only the first step. Once he or she has an idea of what could be causing your symptoms, he or she will likely order a series of diagnostic testing to help confirm a diagnosis or at least narrow down the possibilities by the process of elimination.

Keep careful records. Ask for copies of the results of any diagnostic testing that is done. File all records in an organized fashion and keep them in a safe, but easily accessible place.

Compile your family medical history. Provide any healthcare provider you consult with a complete and up-to-date family medical history, including information about any relatives who died in infancy or under unexplained circumstances.

Monitor your condition. Keep track of any changes in your condition or symptoms, as well as any factors that may have contributed to these changes (treatments, medications, lifestyle changes, etc.)

Do your homework. The internet is a powerful tool if you stick to reliable sources. The National Organization for Rare Disorders (NORD) and the Canadian Organization for Rare Disorders (CORD) provide some credible sources as a starting point.

Accept help. During visits to healthcare providers, friends or family members can provide emotional support and help you remember any information or instructions you receive.

 

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), 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 Medunik Canada remains firmly committed.

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