Come visit our booth at Lilac Fest!!
Sunday June 1, 2025 from 10am-6pm
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.
Want to stay informed about research in rare diseases?
View our VIPeR website to learn how to stay up to date on research in rare diseases and to participate in clinical trials:
WHAT IS THE RARE DISEASE NETWORK OF ALBERTA?
The Rare Disease Network of Alberta (rDNA) is a non-profit organization founded in 2018 to improve understanding and awareness of rare diseases across Alberta.
From the tools used to make a diagnosis, to emerging treatments and navigating local support systems—rare diseases can be complex and isolating. That’s why we focus on education, connection, and resource-sharing.
Through educational sessions for healthcare providers and families, community-building events, and accessible patient resources, rDNA works to create a more informed and connected future for those affected by rare diseases.