Thousands of families in the UK are facing the unknown as they care for children with undiagnosed genetic conditions. These conditions are so rare that they do not even have a name, leaving families feeling isolated and struggling to find support.
On Friday 26 April 2024, SWAN UK (syndromes without a name), the only UK support community for families with undiagnosed genetic conditions, will be calling on people to spread the word and help more families find them sooner.
According to statistics, around 6,000 children are born every year in the UK with a genetic condition likely to remain undiagnosed. For these families, the future is uncertain and the lack of a diagnosis can make it difficult to access necessary support and resources.
Katie, a mother whose 2-year-old son Stanley has an undiagnosed genetic condition, shares her experience: “As a parent, when you are told that tests are showing that everything is clear, and it is believed your child has an unknown genetic condition that could take up to a lifetime to diagnose, it can be overwhelming and isolating. Finding SWAN UK made us realize that we are not alone in this journey. Stanley and I have already made some friends in the SWAN UK community, and we look forward to getting more involved as time goes on.”
Miriam Ingram, SWAN UK’s Communications and Engagement Manager, explains the importance of support for families with undiagnosed genetic conditions: “We know that for families like Katie’s, life can be extremely difficult as medical professionals can’t give them any answers and this can be a very lonely place to be. Without a diagnosis, it can be hard to access all kinds of support because families can’t tick a box as to what is wrong with their child. SWAN UK offers a lifeline to these families by providing peer-to-peer support, events and opportunities, information, and a sense of belonging.”
Undiagnosed Children’s Day is a nationwide event that takes place every year to raise awareness of children with undiagnosed genetic conditions, also known as syndromes without a name. SWAN UK, run by the charity Genetic Alliance UK, is the only dedicated support community for families affected by an undiagnosed genetic condition in the UK. They offer support and information to families, as well as work with healthcare professionals to educate them about undiagnosed genetic conditions and the challenges faced by families in the SWAN UK community.
To arrange an interview with Katie or another parent, please email miriam.ingram@geneticalliance.org.uk.
Derick is an experienced reporter having held multiple senior roles for large publishers across Europe. Specialist subjects include small business and financial emerging markets.