Rare Disease Day is celebrated worldwide on 28 February to raise awareness about the experiences of people with rare diseases.
The 2022 theme of Rare is many. Rare is strong. Rare is proud reminds us how important it is to come together and connect as a community. This is an opportunity to share personal stories and acknowledge the challenges for our community members who live with a rare disorder.
In Australia, a disease is considered rare if it affects less than 5 in 10,000 people.
Around 8% of Australians (2 million people) live with a rare disease.
About 80% of rare diseases are genetic.1
Haemophilia is considered rare. Approximately:
Researchers are still gathering data on how many females are affected by haemophilia.
Some bleeding disorders are very rare.
For example, factor X (10) deficiency only affects 1 in a million people.
Type 3 VWD is the rarest form of von Willebrand disease, occurring in 1 in 1-2 million people in countries like Europe and the USA.2
In Youth News in this issue of National Haemophilia, Adam tells his story of raising awareness about haemophilia in his local community and school. He explains why it is important and how it helps the people around him support him, both in emergencies and in his everyday life, and not try to make decisions for him.
You may have seen some other personal stories about living with very rare bleeding disorders on our social media platforms in the lead up to Rare Disease Day:
Our thanks to Adam, Belinda and Simoni for sharing their personal stories.
Sharing personal stories is an important way to help people with rare diseases feel connected. It can also help the wider community to understand better what it is like to live with a rare disease.
Many people with rare diseases speak of feeling isolated. Many have never met or heard of another person with their condition. If they are the first in their family with the condition, or have a very rare combination, like two bleeding disorders, it may have taken a long time for them to be diagnosed. Women and girls with haemophilia also talk of not being believed because of the common assumption that only males have haemophilia.
Treatment development is another issue for very rare diseases. When rare diseases are very rare and numbers are small, this can mean that the development of new and highly effective treatments is slow. There may even be no treatment that specifically targets that condition. For example, while there has been great excitement around the world about the novel therapies developed for haemophilia and the difference they make to reducing bleeds and quality of life, there is not yet a specific clotting factor concentrate that is suitable to treat factor V (5) deficiency and fresh frozen plasma may be used for treatment instead.
You can help to raise awareness by sharing the stories of people with bleeding disorders through your personal networks.
Perhaps you have a story you would like to share yourself? Visit the SHARE YOUR STORY section on the HFA website to tell us more about your story.
For more information on Rare Disease Day, visit www.rarediseasedayaustralia.com.au.
1.Australian Government. Department of Health. What we’re doing about rare diseases. Accessed 15 February 2022
2.Orphanet: the portal for rare diseases and orphan drugs. https://www.orpha.net/ Accessed 15 February 2022
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