All of the latest news and updates from Genetic Alliance UK can be found below. This includes the release of our latest reports and findings, as well as pieces that our member organisations have requested that we share.
We also share stories, images and experiences from those living with genetic, rare and undiagnosed conditions. Individuals affected by these conditions are at the heart of everything that we do and we want to champion these communities by amplifying their voices, individually and collectively.
If you’d like to have your story included on our website then get in touch.
Featured
Kevin ran the London Landmarks Half Marathon to raise money for SWAN UK and Rare Disease UK. He he tells us about his family’s experience the undiagnosed and rare communities and why he supports our work.
Featured
Jesse, a happy boy who had a wicked sense of humour. Six months before he was taken into intensive care he learnt to walk and managed to walk the length of the Suspension Bridge (now known to the family as Jesse’s Bridge). This is his story.
Rosie was born in April 2022, and for the first 16 weeks things her family lived in their "new family unit" bubble. Rosie's mum shares what happened next.
Bex is mum to 6-year-old Jackson, the youngest of three boys. Jackson has a genetic/neurological condition so rare they have yet to find a name for it. This means Jackson has complex medical, physical, and learning disabilities.
The Parkes family have had to battle and fight for everything since Charlie was born. Not having a diagnosis very often means you don’t tick boxes, making the journey a lot harder. Despite this, Charlie has smashed every goal and expectation anyone has ever had about him.
Jackson has a condition so rare, it remains undiagnosed. He's got a long list of different diagnoses but the cause of his complex needs is still unknown. He also has a list of 23 different specialists helping to find answers. Jackson's mum, Bex, tells their story.
Kayley's daughter, Evana has 15q11.2 microdeletion, which they discovered after a genetic test. Kayley is part of the SWAN UK community. This is her story.
Jazz is part of the SWAN UK community, SWAN stands for syndrome without a name, a condition so rare that it doesn't have a name. In this blog she talks about her having a son with an undiagnosed condition.
Helen is a SWAN UK Parent Rep for Nottingham, Oxfordshire and Berkshire. After 19 years her son was diagnosed with hypermobile Ehlers-Danlos syndrome.
