Rare Disease Day is celebrated worldwide on 28 February 2021 to raise awareness about the experiences of people with rare diseases.
Following the 2021 theme of Rare is many. Rare is strong. Rare is proud, we have shared personal stories from our community members in the weeks leading up to Rare Disease Day. This has been an opportunity to acknowledge the challenges for our community members who live with a rare disorder and hear what they have learned.
For Rare Disease Day Belinda has shared her story of living with factor X (10) deficiency – a very rare bleeding disorder, affecting 1 in a million people.
READ BELINDA’S STORY
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.
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? Click here to tell us more about your story.