Blog Takeover: Rare Disease Day

In her latest blog post, our Genetic Counsellor Emily discusses Rare Disease Day and how your support is helping to change the lives of children and families affected by rare genetic disorders.

Sheffield Star

“As many of you will know, Rare Disease Day is coming up soon on 29 February. About 80% of the 7000 known rare diseases have a genetic cause. Rare Disease Day is a fantastic opportunity to raise awareness of genetic conditions amongst the public, healthcare professionals, researchers and policy makers.

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As a group, rare diseases are not actually that rare, they will affect about 1 in 17 people at some point during their lives. Unfortunately it still takes an average of 7 years from the onset of symptoms for a rare disease to be diagnosed, and there are still many people who remain undiagnosed. At Jeans for Genes, we understand the many challenges that individuals and families with a rare health condition face. There is often very limited information available, most health professionals have never heard of the condition, it can be unclear how the condition should be managed and it is often very difficult to gain access to the right health services, social care, benefits and educational support. It is not unusual for families to feel isolated and disempowered.

We have supported many people by finding information about their rare condition and explaining it in a clear way. We help families with the same rare disorder to find one another by working with them to set-up a Network page for their condition on our website. We recently created a page for the genetic disorder Norrie disease, which is thought to affect just 20 people in the UK. Through the money raised on Jeans for Genes Day, we also provide grants to genetic disorder charities to support their invaluable work at bringing together people with rare disorders, funding specialist nurses, key workers and much more. There is more information about our grant programme on our website.

In addition, the wonderful educational resources on the Jeans for Genes Day website help to raise awareness and give young people an insight into life with a rare genetic condition.

While we are working hard to minimise the impacts a rare genetic diagnosis can have, we know much more needs to be done, so please join us in jeans on Friday 23 September for the 21st Jeans for Genes Day and help us to transform the lives of children with genetic disorders.”

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