As Luis' condition Nascimento X-Linked Intellectual Disability is rare he was featured on the Genetic Alliance UK website recently to raise more awareness of it.
You can find it here at : www.geneticalliance.org.uk/news/luis-story/
What do they do?
As taken directly from their site: Genetic Alliance UK is an alliance of over 200 charities and support groups working together to improve the lives of people in the UK with genetic, rare and undiagnosed conditions.
Around 3.5 million people in the UK are affected by rare conditions, which are individually rare but collectively common. They campaign for timely diagnosis, better coordinated care, and improved screening, testing, services and treatment.
We run Rare Disease UK which provides a united voice for the rare disease community and raises awareness each year by leading on Rare Disease Day. We also run SWAN UK, which supports children, young people and families affected by undiagnosed genetic conditions and raises awareness each year by leading on Undiagnosed Children's Day.
Below are some fact and figures provided directly from their site also available by using this direct link: www.geneticalliance.org.uk/campaigns-and-research/facts-and-figures/
Genetic conditions
8 in 10 rare conditions are caused by a change to someone’s genetic code
Some rare gene disorders affect only 1 or 2 people in the UK and a handful of people around the world
Some people may be the only person in the world affected by a particular change to their genetic code
Every year around 6,000 children in the UK are born with a genetic condition so rare that it does not yet have a name. This might be because the right test has not yet been developed to diagnose it, or the genetic cause of the condition has not been discovered. An undiagnosed genetic condition is known as a ‘syndrome without a name’ or SWAN
Diagnosis
Figures from Good Diagnosis (Genetic Alliance UK, 2022) and UK Rare Diseases Framework (Department of Health and Social Care, 2021)
More than a third of people with a rare condition have to wait more than 5 years between first experiencing symptoms and receiving a final diagnosis
Not everyone receives a clear diagnosis: The 100,000 Genomes Project helped 1 in 4 people with an undiagnosed rare condition receive a diagnosis for the first time
Daily treatment and management (care coordination)
Figures from CoOrdinated Care of Rare Diseases (CONCORD) research study (2020)
Only 1 in 10 adults in the UK living with a rare condition have a care coordinator to help organise different aspects of their care
Only 1 in 10 adults and 4 in 10 children in the UK living with a rare condition have a care plan in place
Treatment
Figures from Fermaglich et al, ‘A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act’, Orphanet Journal of Rare Diseases (2023)
Only 1 out of 20 rare conditions have an approved treatment or medicine to help. This is partly due to the small number of people affected by each rare condition.
Thanks to the efforts of organisations like the Genetic Alliance UK and sites like ours here at Luis' Space, we will continue to raise awareness of rare conditions and provide valuable insight. If you would like to share a story please get in contact and we would be happy to do so on your behalf.
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