Out of Sight, Out of Mind: Funding for Rare Diseases

Out of Sight, Out of Mind: Funding for Rare Diseases

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By: Yvonne Bach & Parita Shah

About one in 12 Canadians are affected by rare diseases, and two-thirds of these Canadians
are children.1 Rare diseases are defined as “seriously debilitating or life-threatening conditions affecting fewer than five in 10,000 people”. 2 Canada has recently made some advancements relating to the knowledge and treatment of rare diseases; however, considerable challenges still remain, ranging from inadequate scientific understanding and clinical expertise to drug availability and pricing.

Rigorous scientific research to improve our understanding of a disease requires funding and research participants, both of which are scarce for research in rare diseases. With respect to the availability of research funding, government agencies have a mandate “to improve public health”, and so are less likely to favour preclinical and clinical research investigating uncom mon conditions because it has a potential to influence a relatively small number of people, and thus they are likely to favour grants that address common conditions.3 The impact of research in rare diseases focuses on a small population, which makes it difficult for researchers in the
field to secure funding.4,5 In addition to the challenge of securing a grant, clinical researchers are faced with another obstacle: finding research participants. Given that rare disease populations are small, conducting a rigorous research through large randomized trials is often impractical.

However, Canada is probably one of the few developed countries in the world that has limited guidelines for providing care to individuals with rare diseases. Inadequate resources could contribute to inconsistencies with treating rare diseases among academic scholars and clinicians. As a result, individuals with rare diseases may be at an increased risk of misdiagnoses, futile medical interventions, confusion, stigma, social isolation, and early preventable death. Fortunately, in 2012, Canada gained access to Orphanet, an online platform that offers peer-reviewed information on rare diseases from world experts. This tool not only allows clinicians to make informed decisions, but it could also allow patients and their families to gain a better understanding of their condition and actively engage in the decision-making process. Although this tool can help in making accurate diagnoses and care plans, Canada does not have readily accessible treatment options. If new and effective therapeutic interventions are found, families could still face the financial hardship of treatment that isn’t subsidized by the government or medical insurance.

In Canada, the approval of drugs for rare diseases can take a long time, which contributes to unnecessary distress for both the patients and their families. For example, only 60% of the available treatments for rare diseases are accessible in Canada, and most get approved up to six years later than analogs in the US and Europe.1 Of the drugs available in Canada, most are so expensive that drug plans may refuse to cover the cost. Furthermore, patients requiring the remaining 40% of drugs not available domestically may have to travel outside of Canada, further adding to their financial expenses. Other options are to remain untreated—which could contribute to debilitating consequences for their physical and mental health—or opt out for other non-allopathic/homeopathic treatment options, which may or may not be effective in treating their condition. Overall, practical treatment options for individuals with rare diseases are limited, even though our knowledge for these conditions has improved over the years.


Federal and provincial grants are not the only source that basic and clinical scientists rely on to conduct their research. Similar to most health care systems and research institutions, a large portion of their funding comes from private donors. Thus, it is up to the everyday people in our society to educate others and raise awareness on the scarcity of funding and support for people suffering from rare diseases. Although these patients and their families experience similar physical and mental burdens as those diagnosed with other life-threatening illnesses such as cancer or heart disease, it has been difficult to foster the same kind of attention from the public.

In recent years, social media has been the go-to platform for a myriad of important but overshadowed issues, including rare diseases. For instance, amyotrophic lateral sclerosis (ALS), a rare motor neuron disorder, caught international headlines when Pete Frates, a Boston College alumnus, was diagnosed with it, giving him only a few years left to live. In 2014, Pete and his friend, Pat Quinn, who also had ALS, took to social media to share their personal experiences and frustrations associated with the lack of funding in discovering a cure for ALS, even though we have the technology to do so. The pair created the famous campaign known as the “Ice Bucket Challenge.”6,7 The campaign went viral in the summer of 2014 when the world’s most influential leaders, politicians, athletes, and A-list celebrities (Former President George W. Bush, Lebron James, Justin Bieber, etc.) were seen being doused with a bucket full of icy cold water in support of the cause. Soon enough, it was impossible to go on Facebook and Instagram without seeing your friend or colleague accepting the Ice Bucket Challenge.

The campaign proved to be an extraordinary feat; millions of dollars were raised for health and research organizations that focus on ALS and other degenerative neuromuscular disorders. Within one month of the Ice Bucket Challenge, the fundraising initiative had already generated $100 million USD for the American ALS Association.8 Canada also experienced a similar positive impact as a result of the campaign—$10 million CAD was raised for the ALS Society of Canada which was financially matched by the Brain Canada Foundation and Health Canada, for a total of $20 million CAD.9

The tremendous surge of funding for ALS research was not raised in vain; in July 2016, the ALS Association announced that a fraction of the donations from the Ice Bucket Challenge was used to discover a new gene variant associated with ALS called NEK1 at the University of Massachusetts Medical School.10 No one can dispute the courage and determination of Frates, Quinn, and the many other advocates that helped inspire the entire world to join in on their fight. The campaign generated discussion, funding, and action in ways that a government cannot accomplish, simply because of their limited resources. The Ice Bucket Challenge was inspirational and instrumental to the progress of ALS research. However, it was also an eye-opener to the challenges that face all patients and families suffering from ALS or other rare diseases.

It is clear that funding from one sole source is insufficient and in recent years, the influence that social media holds has become a new platform for health advocacy. However, the Ice Bucket Challenge was not met unopposed; the campaign was criticized on its glamorization of a terminal disease and unclear connection between the act and cause, not to mention the amount of clean drinkable water that was used to complete the challenge (to which some participants responded by using rain water and even dirt). This presented a jolting realization that our society requires “exciting” and “fun” marketing campaigns to garner empathy and care for the suffering—how much knowledge and in-depth thought was given to ALS by the public? Were the monetary donations generated from narcissistic intent or genuine concern for ALS and the future of health care?

And although those are valid and important concerns that would be better addressed by sociologists and marketing strategists, the awareness and funding that ALS generated would not have reached global recognition if it were not for the Ice Bucket Challenge. We should invest our time and energy in maintaining the momentum generated by this campaign and brainstorming strategies to produce a similar amount of support for the other 7000 known rare diseases in the world. The Ice Bucket Challenge was a momentous breakthrough for research in ALS and all rare diseases for that matter—but what happens when the bucket runs dry?


  1. Canadian Organization for Rare Disorders (CORD). Now is the time: A strategy for rare diseases is a strategy for all Canadians; 2015.
  2. The Canadian Institutes of Health Research (CIHR). Supporting cutting-edge rare disease research. Government of Canada; 2016.
  3. Gupta S. Rare diseases: Canada’s “research orphans”. Open Medicine 2012;6(1):e23-e27.
  4. Griggs RC, Batshaw M, Dunkle M, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab 2009 Jan;96(1):20-26.
  5. Lavandeira A. Orphan drugs: legal aspects, current situation. Haemophilia 2002 May;8(3):194-198.
  6. Goldberg, Eleanor (15 August 2014). “Meet The Guy Who Made ALS ‘Ice Bucket Challenge’ Go Viral”. Huffington Post. Retrieved 17 April 2018.
  7. Cary, Billy (16 August 2014). “Reaction overwhelms Ice Bucket Challenge creator”. USA Today. Retrieved 17 April 2018.
  8. “The ALS Association Expresses Sincere Gratitude to Over Three Million Donors”. The ALS Association. August 29, 2014. Retrieved 17 April 2018.
  9. “ALS Canada awards $3 million for 12 new research projects to help make amyotrophic lateral sclerosis (ALS) a treatable, not terminal disease”. AMYOTROPHIC LATERAL SCLEROSIS SOCIETY OF CANADA. November 22, 2017. Retrieved 17 April 2018.
  10. Kenna, K. P., Van Doormaal, P. T., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., … & Shatunov, A. (2016). NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature genetics, 48(9), 1037.