What’s so rare that the awareness day for it falls on Leap Day, once every four years? That’s the story of international Rare Disease Day, launched back in 2008 to “build a global awareness campaign to help bring rare diseases to the spotlight.” (1) Leap Day – February 29 – was selected for this event, specifically because it is in itself a ‘rare’ date.
In reality, though, Rare Disease Day events usually take place on the last day of February. This year, because the final day of the month happens to fall on a Sunday, many organizations are hosting events during the course of the week that follows. The Rare Disease Interest Group (RareDIG) at McGill University here in Montreal will be hosting a virtual event for Rare Disease Day next Friday evening, on March 6:
This online event will showcase a series of 5 talks given by patients, clinicians and researchers and leaders of various organizations” (2)
Guest speakers scheduled for this event include a pediatric neurologist who is also an epidemiologist and researcher; a pharmacology and human genomics scientist; a rare brain cancer survivor and patient advocate; a Past-Chair of the International Alliance of Patient Organizations; and a teacher and rare disease patient who co-founded the non-profit patient organization Soft Bones Canada. (3)
It’s a point of pride for the RareDIG organization that patients are always involved in their events. RareDIG is a student association within McGill University’s Faculty of Medicine, and one of its founding members was herself a rare disease patient. This personal experience informed the group’s goals and their mission of addressing inequities in healthcare for patients diagnosed with rare diseases:
We likely all know someone who has a rare disease.
There are more than 7,000 identified rare diseases worldwide, each of which affect fewer than 1 in 2,000 people.
Added up, though, rare diseases affect tens of millions of people, including 1 in 12 Canadians.People with rare diseases face inequities in health care, including prohibitive medication costs and difficulty accessing experts in their condition.
A lack of awareness about these diseases in the healthcare community means that patients often embark on what is called a diagnostic odyssey, where late diagnosis leads to delayed intervention and prolonged suffering.In Fall 2017, a group of McGill Medical Students started the Rare Disease Interest Group (rareDIG), the first student-run, rare disease advocacy group in Canada.
We aim to encourage medical students to adopt attitudes that will benefit patients with rare diseases, as well as raise awareness of rare diseases in general.
Developing insight into the challenges patients with rare diseases face will inform the advocacy efforts of our colleagues and encourage the creation of public policy that can reduce inequities in care.”(4)
My work in bioethics has also been about trying to reduce inequities in healthcare, and in clinical or medical research, so RareDIG’s emphasis on addressing inequities in care for rare disease patients truly struck a chord with me. Having been diagnosed with my own rare disease, Complex Regional Pain Syndrome (CRPS), in May 2016 I know first-hand about some of these gaps in equality and access to care for those of us living the ‘rare life’.
Particularly for invisible yet extremely painful rare illnesses, such as CRPS, there is also often a marked lack of understanding – even among healthcare professionals – of how difficult the condition can make a person’s daily life. While a physician will quickly understand how a more common condition impacts their patient’s life, those of us with rare diseases often have to spend time educating our healthcare teams on the finer points of our diseases. This additional burden on rare disease patients seems to be common – across conditions.
Another inequity in care for this specific rare disease is that although “physical therapy is the cornerstone and first-line treatment for CRPS” (5), physiotherapy is not covered under most provincial health insurance plans. Even the most generous group insurance plans tend to cap reimbursement of physiotherapy at about $1,500 CAD per year, while my out of pocket costs were $80 CAD per session; three times a week for more than a year, then twice a week for another year or so, and then once a week.
These physical therapy sessions had continued for almost five years, and only ended when Montreal was ‘locked down’ in late 2020 due to the current pandemic. The only way that I could pay for this – medically necessary – therapy was by using all the money that my husband and I had saved to renovate our 1991 kitchen… almost twenty years of savings, gone within a couple of years because I’d developed a ‘random’ rare disease.
Yet for every story of someone using up their savings to pay for healthcare, even here in Canada, there are countless stories of those who couldn’t afford this care. Patients who might have worse disease outcomes, because they didn’t have access to physical therapy for their CRPS. This isn’t right, it isn’t equitable. If we don’t require patients to pay for their medically-necessary dialysis treatments for kidney disease, we shouldn’t require them to pay for physiotherapy for CRPS.
So what exactly is CRPS? That’s a great question, and one to which we don’t yet have a clear response. CRPS is considered by some specialists and researchers to be a neurologic disease, and by others to be more of an autoimmune condition; many now consider it to be both. Symptoms may differ from one patient to the next, or from day-to-day for the same person.
The most common symptom is severe, constant, and debilitating pain, usually neuropathic or nerve pain, in one or more limbs; a hand and arm or a person’s foot and leg. Other common symptoms include full-body fatigue, cognitive issues, and localized swelling, skin discolouration, and temperature changes. Despite there being a wide range of symptoms, it’s not yet known what causes CRPS; as a researcher might say, its etiology has not yet been elucidated:
The underlying cause of complex regional pain syndrome (CRPS) is not well understood…
The exact trigger of CRPS after an injury is not known, but it may be due to abnormal interactions between the central and peripheral nervous systems, and/or inappropriate inflammatory responses.” (6)
Thanks for taking the time to read about CRPS today, and about Rare Disease Day in general. If you’re interested in attending the virtual RareDIG event this coming Friday evening, hosted by the RareDIG organization within McGill University, please visit their Facebook page to register (see Reference (3) below); it’s a free event, but you do have to sign up.
I’ve attended previous Rare Disease Day events hosted by the RareDIG, and each of them has been fantastic. Even though this year’s event will be held online, because of the COVID pandemic, I’ll be wearing my zebra-print boots; they were a hit at the 2020 live event, held at Moyse Hall on the McGill University campus!
Keep safe, and please look after your well-being!
References:
(1) European Organisation for Rare Diseases (EURODIS). Overview of Rare Disease Day 2008. Undated. Webpage. Accessed 27 Feb 2021. Online:
https://www.rarediseaseday.org/article/rare-disease-day-2008
(2) European Organisation for Rare Diseases (EURODIS). Rare Disease Day 2021 Zoom – Hosted by RareDIG McGill; Events, Worldwide, Canada. Undated. Webpage. Accessed 27 Feb 2021. Online:
https://www.rarediseaseday.org/event/canada/890
(3) McGill MSS Rare Disease Interest Group. McGill RareDIG Rare Disease Day 2021. Webpage. Undated. Accessed 27 Feb 2021. Online:
https://www.facebook.com/rareDIG
(4) Seeds of Change. RareDIG. McGill University. Webpage. Undated. Accessed 27 Feb 2021. Online:
https://www.mcgill.ca/seedsofchange/project/raredig
(5) Rho RH, Brewer RP, Lamer TJ, Wilson PR. Complex regional pain syndrome. Mayo Clin Proc. 2002;77(2):174-180. doi:10.4065/77.2.174. 22 Feb 2002. Accessed 27 Feb 2021. Online:
https://www.mayoclinicproceedings.org/article/S0025-6196(11)62332-X/fulltext
(6) Genetic and Rare Diseases Information Center (GARD). Complex regional pain syndrome. National Center for Advancing Translational Science (NCATS); National Institutes of Health (NIH); U.S. Government. Webpage. Updated 09 Jan 2017. Accessed 27 Feb 2021. Online:
https://rarediseases.info.nih.gov/diseases/4647/complex-regional-pain-syndrome