Hi everyone!
Today is Rare Disease Day, an international day to raise awareness. It happens every year on the last day of February. So on leap years, it seems especially appropriate to have Rare Disease Day on February 29th! Did you know that 1 in every 12 Canadians has a rare disorder? Neither did I until I stared researched after being diagnosed with Complex Regional Pain Syndrome (CRPS)…
There are over 7000 rare disorders recognized currently by the Canadian Organization for Rare Disorders. I was shocked when I found a statistic saying 1 in 12 Canadians have a rare disorder. Even more shocking is to find out that two thirds of them are children. Rare disorders have a devastating effect on patients lives, their families, and the people around them. Many people who develop these conditions are able to push past the new barriers presented to them, and find happiness and purpose in their new lives. Many people are born with these conditions, and only know the life they have been living. Some end up moving forward, some end up stuck. Today is the perfect day to educate yourself on one rare condition you didn’t know about, and investigate what it’s like for people living with it. Rare Disease Day is all about raising awareness of the large number of people collectively affected by over 7000 different conditions. Rare on their own, but surprisingly less rare all together.
I live with CRPS, a rare disorder that currently affects me every second of every day. According to de Mos, et al. (2007), the incidence rate of CRPS is 26.2 per 100,000 person years. (NOTE: person years is a statistical measure of incidence. Wikipedia actually has a really good summary of it here if you want to understand it better.) For me, CRPS means constant pain of all different sensations (squeezing, burning, stabbing, freezing, hammering, tingling, etc.), hypersensitivity to everything including minor vibrations, a lack of physical stamina due to pain, a sweaty and always cold foot, brain fog, nausea due to pain, and the mental mountain of pushing forward through it all. That’s really just off the top of my head though. Like I didn’t mention the ingrown hairs all over my affected leg because I can’t exfoliate it properly. Blerg. Anyway, my life with CRPS is just one example of one rare condition and the effects it has on one person’s life.
When you start to go through it in your head, you probably have more people around you with rare conditions than you realize. I am very open about things going on with my health, but there are many people who prefer to just keep their health concerns unspoken. When you take people’s personalities and preference for sharing into the equation, it’s easier to see how 1 in 12 Canadians are packing rare conditions. Some open, some secret, some visible, some invisible.
Days devoted to awareness like Rare Disease Day are important. Rare Disease Day was started by EURODIS- Rare Diseases Europe in 2008. EURODIS is made up of over 700 different advocacy groups from 60 different countries across Europe. Groups like these do a lot of work spreading awareness, advocating for patients, informing government decisions, and more. Advocacy groups are especially important to people with rare conditions. Dunkle, Pines, Saltonstall (2010) state that the collaboration between rare disease advocacy groups, policymakers, and scientists “is unparalleled in other areas of medical research and product development.” Change is happening, and advocacy groups are helping us get there. I hope we go from questions to answers, from treatments to cures.
I’m also using Rare Disease Day as another reminder of those who have supported me, and continue to support me. Thank you. Thank you for sticking with me, because I know I’ve changed. I’ve had to. Thank you ❤
Love and gratitude x
Zara
How to show your support:
For the people with rare conditions around you- Listen! Be patient! Do a bit of research, use today to familiarize yourself with a condition you’ve never heard of before. Be open minded, some of these conditions are invisible so you won’t have a visual cue to remind you of what the person is going through.
If you are looking for places to financially support, please consider the following organizations. There are also many wonderful individuals who have crowd funding campaigns for their own care or someone else’s. So that is an option as well for financial support. I have included many different organizations, from different countries and devoted to different conditions/ goals. There are many links to CRPS awareness organizations, since that is a part of my life now. However, I have also included foundations for other rare diseases that have affected those around me. Links to donate are listed by country for CRPS and general info organizations, and by rare disorder otherwise.
Canada
CRPS Hope and Awareness Foundation
Promoting Awareness of RSD Canada (PARC)
Canadian Organization for Rare Disorders (CORD)
United States of America
Reflex Sympathetic Dystrophy Syndrome Association (RSDSA)
National Organization for Rare Disorders (NORD)
Europe
EURORDIS- Rare Diseases Europe
Charcot Marie Tooth (CMT) disease is a hereditary sensory and motor neuropathy, causing pain and muscle weakness often in the legs and feet. It affects roughly 1 in 2500 people, and there are several different types of CMT. There are treatments, but there is no cure.
Charcot Marie-Tooth Association USA
Ehlers-Danlos syndrome (EDS) affects connective tissue which includes skin, bones, joints, organs, and more. Symptoms vary between types of EDS but can include: hypermobile joints, chronic pain, joint dislocations, fragile skin, blood tissue tears, organ dysfunction, kyphosis (spine curves abnormally forward) that can result in breathing issues, teeth and gum abnormalities, and more. There are treatments, but there is no cure.
Huntington’s disease is a degenerative brain condition that affects physical, mental, and cognitive states. Movement, mood, and cognition are all eventually affected. Symptoms can go from mood disturbance, to involuntary movements, to issues walking, to difficulty swallowing and more. Huntington’s disease will often start to affect people in their 30s, but some have symptoms start in their 20s. Life expectancy for someone with Huntington’s is anywhere from 10-20 years from the onset of their symptoms. Like many of the rare conditions, there are treatments that vary in efficacy, but no cure.
European Huntington’s Disease Network
Restless Legs Syndrome (RLS) is characterized by uncomfortable or painful sensations in the legs that causes someone to need to move their legs. This may not seem profound to you, but people with RLS say it is torture. Often RLS is worse at night, so people with it have extremely altered sleep patterns, sometimes not being able to sleep at all. There are treatments, but no cure.
Restless Legs Syndrome Foundation [USA]
Spina Bifida is a developmental condition resulting in the “incomplete development of the brain, spinal cord, and/or meninges” in the womb. There are four types of spina bifida, with the mild form sometimes exhibiting no symptoms. Spina bifida can leave an infant with severe mental and physical disabilities like paralysis. The range of symptoms and the overall effect on an individual vary wildly between the different types of spina bifida. There are prenatal screenings that can be used to detect spina bifida. There is no cure.
NIH information on Spina bifida
Spina Bifida and Hydrocephalus Organization of Canada
Spina Bifida Association [USA]
Additional Resources (check out the sites of everything mentioned above too, not just their donation pages!)
Rare Disease Day Official Site
de Mos. et al. 2007. The incidence of complex regional pain syndrome: a population-based study.
Duncan, Pines, and Saltonstall. 2010. Advocacy groups and their role in rare diseases research.
Canadian Organization for Rare Disorders (CORD)
National Organization for Rare Disorders (NORD)
EGAN Patients Network for Medical Research and Health [Europe]
Incidence (of medical conditions) definition
[Totally Aside…You may notice that it’s Rare Disease Day, but I will more often use the terms “disorder” or “condition”. Technically speaking, disease, disorder, and syndrome all mean different things. So if you love this kind of terminology stuff like I do, check out the difference here!]
It Is What It Is 
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