WHAT IS A RARE DISEASE?

 
More than 18,000 Canadians and 2,100 Albertans are expected to have a rare disease and there may be 300 million people in the world with a rare disease. Some people might know only that they have a medical condition but not know that they have a rare disease. Examples of rare diseases include cystic fibrosis, Rett syndrome, Pompe disease, adrenoleukodystrophy or mitochondrial disease to name just a few.

There are more than 6,000 known rare diseases and new ones being discovered every day. Rare diseases can make people, often children, very sick and sometimes lead to death at an early age. Because they are rare, it may take a long time to get a diagnosis because the symptoms might not be familiar to most doctors who are used to seeing the usual things that people see doctors for.

Things are changing. New technologies are making it easier to find a diagnosis by looking for changes in “genes”. Genes are the instructions that keep our bodies working from the time they come together, one set from each parent, through our entire lives. Genes are made of DNA and the DNA code is necessary for life. A change in the DNA code can change the instructions and things may not work that well sometimes. A child’s body may not grow, or they may develop seizures, an enlarged heart, weak muscles or any number of issues that lead to a rare disease.

Even though the situation is difficult for people with rare diseases, research is helping improve the lives of many people and changing the course for some of the rare diseases. For example, in children born with Pompe disease, 80% used to die before their first birthday but now, with treatment, more than 80% survive.
 

Links


 
Prevalence of Rare Diseases by Alphabetical List
Rare Diseases: Facts & Statistics
What is a Rare Disease?

WHAT IS THE RARE DISEASE NETWORK OF ALBERTA?

 
The Rare Disease Network of Alberta (rDNA) is a non-profit corporation that was formed in 2018 to help people understand about rare diseases.

From the technologies used in making the diagnosis, new and different methods of treatment, or to caregivers searching for resources in the community and through government programs, there is much to learn. The Rare Disease Network of Alberta is here to support patients and their families in their journey. Let’s work together for a different future.

 

RARE DISEASE DAY 2020 – FEBRUARY 28, 2020

We welcome everyone to join us in Calgary or on Facebook live stream (click here) to share information and life experiences of people with a rare disease! More than 3.5 million Canadians or roughly 10% of the population has a rare disease.

CLICK HERE TO REGISTER!

Optional networking dinner purchase available

Get information from local and international organizations

Participate in a small group session for shared learning

Create an information packet for a topic that interests you

Send us your artwork and we will make stickers for everyone

Send us your logo for a group logo shirt

Door prizes available

Optional reduced admission at Glenbow museum (only for registered guests)

PROGRAMME

11:30-12:00 Poster Viewing
12:00-12:20 Welcome and Introduction (Dr. Aneal Khan)
12:20-12:40 Western Canada Metabolic Disease Network (Dr. Cheryl Greenberg)
12:40-1:00 Going the distance as a rare parent advocate (David Proctor)
1:00-1:20 Urea Cycle Diseases (Dr. Ramona Salvarinova)
1:20-1:30 Discussion
1:30-2:00 Refreshments and Activities
2:00-2:30 Small Group Sessions (may be revised depending on number of registrants)

Low Protein Diets / Phenylketonuria – Metabolic Dietitians
Supports for Families – Brady’s Foundation for Pediatric Palliative Care
Managing Medications – Christy Gilkes
Coping with Fabry Pain – Dr. Aneal Khan
Genetic Counselling – Heather Barnes

2:30-3:00 Living with Pompe disease (Brad Crittenden)
3:00-3:20 When life is short with a rare disease (Jaclyn Tainsh)
3:20-4:00 Leap into Understanding and Action
4:00-4:30 Prizes
5:30-7:00 Dinner at Milestones (Extra Ticket Purchase Required)

If you are attending this event, you can show your Eventbrite ticket at the front desk to get a special rate to see the Glenbow Museum before the start of the rDNA event.

For Rare Disease organization, if you are interested to have your organization logo on our group logo shirt, you will be contacted by our Event Planning Committee for further details.

For parking and wheelchair access, the best option is the Telus Convention Centre lot 60 located right across the street from Glenbow Museum.

 

 

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