February 28, 2019 will be the twelfth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities. The theme for Rare Disease Day 2019 is ‘Bridging health and social care’. Focusing on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease and their families around the world face every day. – RareDiseaseDay.org
World Rare Disease Day is celebrated on the last day of February. It’s the day when families affected by rare disease unite and become part of a much bigger community. One in twelve Canadians is affected by a rare disease. That’s 3 million people in Canada alone, and hundreds of millions worldwide! And these people have family and friends. Not very rare, is it?
Most patients affected by rare disease have no access to treatment. It’s either not available to them, or there’s no treatment at all. 2/3 of rare disease patients are children and 30% of them don’t see their 5th birthday. Patients endure a diagnostic odyssey that can take years. Misdiagnosis, or no diagnosis at all, is not uncommon.
I was told in 2006 that I inherited a rare neuromuscular disorder called Pompe disease. I’m fortunate that I have the adult variety because when I was an infant there was no treatment for Pompe disease. Babies with the more severe infantile form of the disease usually don’t survive their first birthday without treatment. If I had not been the first person in BC to be treated for Pompe disease nine years ago, I honestly don’t think I would be here today. So, when you hear criticism about how expensive drugs are and you read stories about families in heartbreaking situations, remember these are real people, and these people could be you.
Data generated through newborn screening suggests that Pompe disease may be more common than once thought, but it’s still generally accepted to occur in 1/40k births. That seems uncommon but did you know that means the odds of being a carrier are only 1/100? Can you imagine if the odds of winning the lotto were 1/100?! And that’s just one rare disease. There are 7,000 rare diseases!
- Go to RareDiseaseDay.org to find banners, profile pics for social media, events and ideas.
- Download our Facebook cover photo.
- Download our photo frame and upload a pic of you and your family. Use the hashtags #CareAboutRARE, #RareDiseaseDay, #WRDD2019, #ShowYourRare, #Pompe. If your post is public and you tag @CdnAssocOfPompe we’ll share it on our page.
There are programs and events planned all over the world. These are just a few:
- The Canadian Organization for Rare Disorders (CORD) is holding a few events:
- Rare Disease Day 2019 Breakfast Reception at Queen’s Park, Breakfast Reception at Queen’s Park in Toronto, ON, Feb 28, 2019 at 8-9:30 am
- International Rare Disease Day on Parliament Hill, Ottawa, ON, 10:30 am
- Rare Disease Day 2019 Gala, Toronto, ON, May 10, 2019.
- Rare Disease Network of Alberta is hosting a meeting ‘The ghosts in our genes: Using DNA to find rare diseases‘, Calgary, AB at 12:15 pm