Coming soon! International Rare Disease Day (21.02.2018)
The last day of February each year is international Rare Disease Day, which aims to raise awareness about rare diseases and how they impact the lives of patients and their families. So far there are 365 activities planned – in 78 countries – to mark this event. That’s an entire year’s worth of activities, all for this one very special day! For a list of international events, sortable by country, visit: https://www.rarediseaseday.org/events/world.
Rare Disease Day is coordinated by the European Organisation for Rare Diseases (Eurordis), and has spread around the globe in just 10 years. For more information, visit the Rare Disease Day 2018 website at: https://www.rarediseaseday.org/article/about-rare-disease-day.
Here in Canada, there are many different events planned – from Victoria to Winnipeg to Montréal. Some have been organized by the Canadian Organization for Rare Disorders (CORD), others by medical students or by local chapters of rare disease foundations. Because most rare diseases may have genetic causes, CORD’s mission includes promotion of cutting-edge screening for newborns in each Canadian province & territory and increasing access to genetic screening and counselling for rare disorders. For information about CORD, visit: http://www.raredisorders.ca/about-cord/.
“There are over 7000 known rare diseases and dozens more being discovered each year” but within Canada’s large geographical footprint and relatively low population density “because each disease affects only a small number of individuals, understanding and expertise may be limited and fragmented across the country” ~ CORD
Rare Disease Day encourages patients & caregivers to get involved in raising awareness of their diseases, by sharing their stories. One way to do this is by posting a brief story on their website, in simple language, which I did a few minutes ago. I’m not sure how long it will take to be posted to their website, but it’s not showing up yet so I’ve decided to post it here as well:
Getting a diagnosis felt like code-breaking
It’s impossible to describe the relief – after being told for so long that nothing was wrong – of finally having a name for all of my bizarre symptoms. It felt like I’d been missing the words that would unlock a code or a key; the key to explaining everything that was happening to my hand and arm since I’d broken my wrist.
I was told repeatedly by a specialist that nothing was wrong, but I knew that all the symptoms had to stem from the same cause. It didn’t make sense that they’d all have started at the same time, without any connection between them.
It felt like my hand was being blowtorched, from the fingertips to the wrist. Often the pain was so bad that my whole body would tremble. My hand would change colour to purple, red, or white; but there would always be red spots over each finger joint. The skin would feel icy cold or burning hot, but to me that hand always felt like it was on fire.
The joints in my wrist and every finger were getting stiffer and more rigid. It felt like the bones were growing together, or that something was blocking each joint. I couldn’t use that hand at all. Even having clothes touch it was unbearably painful. I’d often either faint or throw up from the pain. I managed to keep working, but for a few months I’d fast all day – so I wouldn’t throw up at work!
So what was the diagnosis? ‘Complex Regional Pain Syndrome’ (CRPS), a rare disease. Many doctors still use its old name, including the neuro-anaesthesiologist who diagnosed me; ‘Reflex Sympathetic Dystrophy’ (RSD).
With either name, it’s often described as a form of dystrophy that involves – and spreads along – the sympathetic nerves. It creates excruciating neuropathic pain. This disease is rated more painful than kidney stones, amputation of a finger or toe (without anaesthetic), and even childbirth on the globally-recognized ‘McGill Pain Index’ or pain scale.
But those types of pain go away. CRPS is chronic; it doesn’t go away. And if it does, it often takes years and may come back at any time. Many people think that chronic pain is less severe than acute pain, but that’s not true. Acute just means that it goes away more quickly.
It’s difficult to diagnose CRPS because it’s rare (and little-known by most physicians), but also because this disease presents differently in almost every patient. That means that each person with CRPS can have different symptoms.
Until I finally got that diagnosis, I felt very alone; I felt that no one understood what I was going through. I’d tell doctors and nurses that the pain was 3 times as bad as the original fracture, but no one understood how bad it really was. With that diagnosis, I was able to connect with other CRPS patients, and that has really helped me. Helping others makes me feel better!