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.

Sarah running amongst other in the London Marathon. She runs by Big Ben, a large clock tower at the UK Parliament.

Running for Jack

Date:

Jack lives with Tricho Hepato Enteric Syndrome, a rare genetic condition that doesn't have a support charity dedicated to it. A close family friend of Jack's, Sarah, ran the London Marathon in 2024 to raise money for Rare Disease UK. Jack shares their fundraising journey and why they chose our charity to support.

Violet’s story

Date:

From her birth in 2022, Violet had many tests done. In 2023 she was diagnosed with TBCK syndrome. Violet's case was presenting as severe and life limiting. At 11 months old, she passed away. This is her story.

The bottom of a wheelchair with its shadow cast over the path it is being ridden on

Living with Complex Regional Pain Syndrome and Bone Marrow Oedema

Date:

Neal's journey started in 2012, and led to a diagnosis of Complex Regional Pain Syndrome and Bone Marrow Oedema. Through his journey he has found ways to make his life easier, including being prepared to meet healthcare professionals who have never heard of the condition.

A photo of Dr Amber. She takes the photo of herself with her arms stretched out. She wears a blue, medical jacket in a hospital room

Amber

Date:

Amber is a doctor and lives with Gitelman syndrome, a condition that causes severe salt wasting. Her unique position of being both a doctor and someone living with a rare condition gives her a unique insight into the rare world. This has been her journey so far.

Coordinating my care – an ongoing personal battle

Date:

Karen has Pregnancy Associated Osteoporosis. The condition has forced a difficult, limited and restricted life which has been made harder with the lack of well coordinated care. This is her story.

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

Meet the Parkes

Date:

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

Date:

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.

2 images side by side of a girl who during and after a marathon. She wears her number badge waving and holding up her medal.

Charlotte’s story

Date:

Charlotte loves the outdoors and being active by running and walking, which she does even whilst living with, Osteogenesis Imperfecta, more commonly known as Brittle Bone Disease. This is her story of how it doesn't stop her doing the things she loves.

Alana’s story

Date:

Alana was taken to the NICU immediately from birth causing a lot of worry to her family. Now, years later, she still has to visit hospital, which sometimes involves a stay. However, this doesn't stop Alana bringing so much joy to her family. Read all about her journey so far, told by her mum.

Introducing Evana

Date:

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.