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.
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.
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