News and stories

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.

A young boy with glasses holds up a SWAN UK sign. He is cropped onto a bright pink background

Meet the Parkes


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.

2 images side by side. Each of a young boy with growing hair. In one he sits in an accessibility wheelchair swing. He has his legs outstretched to either side on the railing of the equipment. The other image is a close up of his face with a happy smile on his face.

Jackson’s undiagnosed journey


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.

Introducing Evana


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.

Autiemum and Max: Our rare 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.

Introducing Helen Dennehy


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 Shum’s story


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.

Meet Becca and Elliot


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