Living with an invisible illness
For many Canadians living with a rare disease, barriers to care emerge early in the journey
I often describe the disease I’m living with as an invisible illness.
If you walk by me in the grocery store, or see me dropping my children off at school, you would never know I’m living with a rare disease. You wouldn’t know I take an immunosuppressive medication every week to slow the progression of the disease and maintain my mobility. Or that some days it takes all my strength just to get out of bed.
My situation isn’t unique. The same can be said for countless other people who may be living with various forms of disease that aren’t easily visible to others — from heart disease and diabetes to multiple sclerosis and Crohn’s disease.
But in the case of many rare diseases, the lack of visible or physical signs can exacerbate an awareness issue that has led to limited funding and — as a result — very few scientific and medical advances in the treatment of these diseases.
On Rare Disease Day, which was Sunday, one in 12 Canadians — or about three million people — were living with a rare disease. Countless others may be affected or at risk, but remain undiagnosed and unaware. There is no perfect definition that encompasses the more than 6,800 rare diseases, which include cystic fibrosis, multiple sclerosis and hemophilia.
In fact, until recently, Health Canada didn’t even have a definition for rare diseases. The limited progress and awareness can be captured with one statistic: for people living with 94 per cent of these conditions, there is no treatment available.
Unfortunately, for many patients with a rare disease, the barriers to care emerge early in the journey.
In the seven years before I was officially diagnosed with Ehlers-Danlos Syndrome (EDS) — a chronic disease that affects the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues — I bounced from one medical specialist to the next, seeking answers for what was happening to my body.
I underwent countless medical tests and exams and devoted hours to searching online for information that would provide clarity.
The most troubling part about all of that — my story isn’t unique. It takes an average of seven years for a patient to receive an accurate rare disease diagnosis.
Some of the people I’ve met through the Chronically Simple community said it took nearly 10 years for them to find an answer.
The time to diagnosis underscores the need for more clinical education and a more concrete pathway that involves collaboration among specialists and access to proper diagnostic tools that enable physicians to identify and diagnose patients. Of course, the most pressing issue is access to safe, effective and affordable treatments. In recent years, we’ve seen an increase in the number of orphan medications that reach the market in Canada.
The average number of orphan drugs approved jumped from 12 per year from 2009 to 2014 to 22 a year from 2015 to 2019, according to the Patented Medicine Prices Review Board. Yet, there continues to be questions and concerns about the affordability of these medications and the therapeutic benefit brought by some.
Unfortunately, the COVID-19 pandemic has disrupted research and development efforts across the world. Clinical research studies not only offer promise for potential curative medications or therapies, but can provide patients who’ve exhausted other treatment options with access to a therapy that extends and improves their quality of life.
The cancellation of many trials has led to heartbreaking consequences.
One of my friends who was diagnosed with amyotrophic lateral sclerosis (ALS) in November 2019 enrolled in a trial that was scheduled to start in March 2020.
When the trial was cancelled, she lost the opportunity to access occupational and speech therapy services. The disease since has rapidly progressed, and she’s now in palliative care. Unfortunately, there are many more stories just like hers.
As we continue to navigate life amid the COVID-19 pandemic, we must maintain all the momentum we’ve established in recent years in the research and development of new therapies to treat rare diseases.
In the past year, we have witnessed a remarkable response from the scientific, medical and pharmaceutical communities to develop safe effective vaccines to combat COVID-19. The speed of development, coupled with the efficacy of these new products, is a reminder of the tremendous amount we can achieve when we devote the necessary resources and expertise.
To me, it offers hope for the future of rare disease treatments. But it also serves as a reminder that we need to continue to raise awareness and increase the investments we’re making so that we can develop safe, effective and affordable therapies for the 94 per cent of conditions that don’t have a treatment.
To effectively address this issue, we need to shine a brighter light on these invisible illnesses.
Kristy Dickinson is the founder and CEO of Chronically Simple, a health care app designed to help patients and caregivers manage appointments, interactions with health care providers, and all the administration that comes with living with a chronic or complex disease or disability.