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.
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Genetic Alliance UK have written an open letter to the new Government, calling for a renewed commitment to supporting people with genetic, rare and undiagnosed conditions in the UK.
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.
Chapman was born blind, has speech difficulties, learning struggles, and symptoms of autism. Despite these hurdles and the absence of a clear diagnosis, he managed to become a talented pianist, winning awards at a competition in Taiwan.
Becca's son, Elliot, has been diagnosed with multiple things since he was bor. From a quadricuspid pulmonary valve, and ventricular septal defect after birth. To sensory processing disorder, speech delay and ADHD tendencies and anxiety, all of which led to challenging behaviour but no formal diagnosis
