The Impact of Having a Rare Disease

The Impact of Having a Rare Disease | Dr. Ali Ghahary

Approximately 8% of Canadians are diagnosed with a rare disease.

Rare Disease Statistics

Rare diseases can occur in both children and adults. Currently, there are more than 7,000 types of rare diseases and many more that continue to be undiagnosed. Examples of rare diseases include aarskog syndrome, acinic cell carcinoma, byssinosis, cholecystitis, and hydrocephalus, just to name a few.

You can find a complete list of rare diseases by visiting globalgenes.org/rarelist.

Canada’s Fight to Combat Rare Diseases

In many cases it is unknown what causes a rare disease, and at least half of those diagnosed with a rare disease will have no known history of any previous rare diseases. In fact, most patients diagnosed will have been given a clean bill of health up until their diagnosis. Compared to other parts of the world, Canada is considered to be behind in its approach and handling of rare diseases. As a result, CORD (the Canadian Organization for Rare Diseases) launched their Rare Disease Strategy in May 2015 and implemented the following goals: To promote innovative research, to improve early detection and prevention of rare diseases, to enhance community support, and to provide patients and families with sustainable access to therapies. By creating this strategy, CORD hopes to be able to help patients gain better access to timely care, avoid being misdiagnosed, as well as avoid unnecessary testing delays.

The Impact of Having a Rare Disease

Because so little is known about rare diseases, this can make diagnosing and treatment difficult. As a result, having a rare disease can impact a patient’s health in more ways than one. Many patients with an undiagnosed rare disease sometimes feel as though they aren’t being heard; because of this, patients with a rare disease are much more susceptible to developing mental health issues – such as severe depression and anxiety. Similarly, patients who have already received a diagnosis can also experience a decline in their mental health given the complexity that often comes along with a rare disease, the chronic pain that is associated with many of them, and how difficult they can be to treat.

Sarah Malone, a contributor to TheMighty.com – a digital health community that was created to connect and empower those facing health challenges and disabilities – published an article discussing the toll having a rare disease can take on one’s mental health – including the signs and symptoms to watch for, as well as the importance of reaching out for help when you do notice those symptoms. Dr. Ali Ghahary, a family physician from Vancouver, Canada, says that if you do notice any of those symptoms, you should always reach out to a trusted individual, such as a friend or a family member, and make sure you also seek the advice of a physician. A family physician like Dr. Ali Ghahary plays an integral role in patient care and is equipped with a variety of resources; they will be able to make referrals to outpatient therapy (i.e. counselling), and will also be able to prescribe medications to help reduce the feelings of anxiousness. You can find more information on mental health from Dr. Ali Ghahary here.

Rare Disease Awareness

Rare Disease Day originally started as a European event in 2008 and has since grown into a worldwide phenomenon with the participation of 94 countries. Taking place on the last day of February each year, Rare Disease Day provides both the general public and healthcare professionals with information on rare diseases and the impact that they can have on the everyday lives of patients, as well as encourages researchers to address the ongoing needs of those living with rare diseases.

For more information on Rare Disease Day and to find out how you can get involved in your community, visit rarediseaseday.org.