SWAN UK, the only support community for families affected by undiagnosed genetic conditions in the UK, is gearing up for their annual awareness day, Undiagnosed Children’s Day, which will take place this Friday, April 25, 2025.
Undiagnosed Children’s Day is a nationwide event aimed 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.
Having an undiagnosed genetic condition is not a diagnosis, but rather a term used when a child or young adult is believed to have a genetic condition and testing has failed to identify its genetic cause. These conditions can manifest in a range of symptoms and each child is likely to be affected differently. Many are described as having global developmental delay, learning and/or physical disabilities, or complex medical needs.
Miriam Ingram, SWAN UK Communications and Engagement Manager, explains that having a child with an undiagnosed genetic condition can be a lonely and isolating experience for families. They often have more questions than answers about what the future holds. SWAN UK aims to bring these families together, providing support and connecting them with others who understand the unique challenges they face.
In honor of Undiagnosed Children’s Day, SWAN UK is hoping to reach more families and expand their support community. Families who answer “yes” to any of the following questions can join the SWAN UK community:
– Have you been told your child has global developmental delay (GDD) or failure to thrive but not told the reason why?
– Is your child suspected to have a rare or genetic condition, but more testing is needed to identify which one?
– Does your child have unexplained medical, learning, or physical disabilities?
– Has your child received genetic testing results that were negative or with a variant of unknown significance?
– Did your child take part in the Deciphering Developmental Disorders (DDD) study or the 100,000 Genomes Project, but you still don’t have a diagnosis?
SWAN UK is encouraging families to visit their website (https://geneticalliance.org.uk/swanuk) to learn more about their support community and how they can join.
Undiagnosed Children’s Day is an important event that aims to bring attention to the challenges faced by families affected by undiagnosed genetic conditions. SWAN UK is determined to continue their work in supporting these families and raising awareness for their cause.
Derick is an experienced reporter having held multiple senior roles for large publishers across Europe. Specialist subjects include small business and financial emerging markets.