International Rare Disease Day takes place on the last day of February each year, so this year it’s even more special because it falls on Leap Day!(1) It’s an opportunity to raise awareness of the more than 6,000 rare conditions that afflict well over 300 million people around the world – and their families.(2)
Before being diagnosed with a rare disease myself, back in 2016, I was already involved in awareness-raising activities. Why? Because my work was in healthcare; in biomedical ethics, particularly clinical research ethics. My job was to ensure that the rights and wellbeing of the people who took part in medical research studies were protected.
I knew, because of my work, that very few rare conditions “are preventable or curable, most are chronic and many result in early death.”(2) Here are some sobering facts for my American friends, although the percentages are likely the same across the globe:
one in 10 people in the U.S. — that’s about 30 million individuals — has a rare disease.
About 80 percent of these diseases are genetic in origin, more than half affect children, and many are life-threatening.”(3)
Without medical research, we wouldn’t have treatments for any of the more common health problems that many of us live with. Try to name five or six diseases – for which we have treatments – off the top of your head, starting with just the first four letters of the alphabet. Which did you come up with?
My answers were; arthritis, asthma, depression, cancers, cardiac conditions, and diabetes. Did you know that research into rare diseases can also lead to treatments for more common conditions? This is one of the reasons for which everyone should support Rare Disease Day!
Now, as a patient living with a rare condition, this type of research is important to me on a much more personal level. So important, in fact, that I participated in a clinical trial myself, just last year.
The photo for this post is of one of the boxes of experimental medications that I received, as part of this research project. Unfortunately this treatment didn’t help with my symptoms, but it didn’t make them worse either!
Failures like this are part of the research process, because it’s essential for medical scientists to find out what doesn’t work – so they can then focus on other ideas that might work. This process of trial and error, as you might imagine, is very expensive:
Researching rare diseases and treatments can be a challenging task – not least because their rarity means there may be few patients available for genetic testing, and funding is likely to be very limited.
However, a greater knowledge of the way rare conditions affect the human body does not just benefit those affected: it can impact positively on the healthcare of everyone, by giving us a better understanding of how the body’s cells work.”(4)
The institutes conducting research into rare diseases often have to fight for funding – and most are government organizations. In other words, they run on taxpayer dollars.
There are the Canadian Institutes of Health Research (CIHR) here in Canada, while the US has the National Institutes of Health (NIH). Or – as the NIH’s Director Dr. Frances Collins called them during a Rare Disease Day webcast yesterday – the “National Institutes of Hope”.(5)
Although it was identified over a hundred years ago, there’s still not much known about my own rare condition; we don’t know what causes it, why certain people get it, how to best treat it, or how to cure it. There is no cure, and treatment is mostly hit or miss.
Its name is Complex Regional Pain Syndrome (CRPS), but until recently it was called Reflex Sympathetic Dystrophy (RSD). Before that, it went by the name causalgia. Not only has its name changed, there have also been many different definitions for this rare disease.
When I was first diagnosed in 2018, CRPS was described as being a neuro-inflammatory disease. Then, just a few months later, researchers were able to identify markers for autoimmune disorders in the blood of CRPS patients.(6)
For now, until the next discovery, CRPS is referred to as being an autoimmune and neuro-inflammatory disease. Some researchers and physicians try to combine that into the term neuroautoinflammatory, but that’s such a mouthful that it hasn’t caught on ‘-)
Both the autoimmune and the autoinflammatory components of CRPS appear to be regulated by neuropeptide-containing peripheral nerve fibers and the sympathetic nervous system.
While CRPS displays a complex neuroimmunological pathogenesis, therapeutic interventions could be designed targeting autoinflammation, autoimmunity, or the neural support for these phenomena.”
What this means is that research into my rare disease could lead to new discoveries for other conditions. More common diseases like Alzheimer’s, Amyotrophic Lateral Sclerosis (ALS, also known as motor neurone disease (MND) or Lou Gehrig’s disease) depression, Multiple sclerosis, and others.
This is why you should care about Rare Disease Day! I hope I’ve convinced you that this type of medical research is actually important for everyone, for each and every one of us.
As always, thanks so much for stopping by! I wish you a wonderful Leap Day, a great Leap Year, and a thought-providing Rare Disease Day!
References
(1) What is a rare disease? Key Figures. European Organisation for Rare Diseases (Eurordis). Online. Accessed 29 Feb 2020:
https://www.rarediseaseday.org/article/what-is-a-rare-disease
(2) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. S. Nguengang Wakap, D.M. Lambert, A Olry et al. Eur J Hum Genet 28, 165–173 (2020). Online https://doi.org/10.1038/s41431-019-0508-0. Accessed 29 Feb 2020:
https://www.nature.com/articles/s41431-019-0508-0
(3) Rare Diseases Are Not Rare! National Center for Advancing Translational Sciences (NCATS); part of the National Institutes of Health (NIH). Jan 2020. Online. Accessed 29 Feb 2020:
https://ncats.nih.gov/news/releases/2019/rare-diseases-challenge
(4) How rare disease research is changing cancer treatment. Elaine Dunlop. The Conversation. Academic Journalism Society. 28 Feb 2017. Online. Accessed 29 Feb 2020:
http://theconversation.com/how-rare-disease-research-is-changing-cancer-treatment-63163
(5) Rare Disease Day at NIH 2020. National Center for Advancing Translational Sciences (NCATS); part of the National Institutes of Health (NIH). 28 Feb 2020. Live webcast. Online. Accessed 29 Feb 2020:
https://videocast.nih.gov/summary.asp?live=34608&bhcp=1
https://ncats.nih.gov/news/events/rdd
(6) Autoinflammatory and autoimmune contributions to complex regional pain syndrome. David Clark J, Tawfik VL, Tajerian M, Kingery WS. Molecular Pain. 2018, Online: doi:10.1177/1744806918799127. Accessed 29 Feb 2020:
https://journals.sagepub.com/doi/10.1177/1744806918799127