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.
It took 10 years for Jude to be diagnosed with KBG syndrome. It was a relief for the family to get the diagnosis after so many years of seeking answers. However, they found that not many healthcare professionals had ever heard of KBG syndrome and therefore couldn't offer much support through their journey. When Jude hit secondary education he attended a special school where he flourished, and felt supported. He now has big goals and dreams, despite his condition.
Receiving a diagnosis can help bring clarity. In our recent blog we hear about a daughter who has been diagnosed with FOXP2 related speech and language disorder. We learn about the challenges that comes with this rare condition, and about the advancements in research and incredible organisations that are around to support people with this conditions.
Dylan lives with TBR1 related disorder, a condition which means he will need support for the rest of his life. His mum, Jemma, talks about the challenges and worries of having a child with a rare condition but also the joys it can bring.
Sally is 19 years old and has Spinal Muscular Atrophy type 2. She is a boccia player on the Boccia UK World Class Programme and making her Paralympic debut in Paris August 2024, before she starts university to study Music in September. In this blog Sally talks about her boccia journey to date and how people can get involved.
Luis is diagnosed with Nascimento X-linked intellectual disability. Now his family is doing all they can to raise awareness and build a community for others. This is their story
Keir lives with Poland syndrome, characterised by under-developed or missing chest muscle. After years of feeling uncomfortable with his body Keir is now hoping to win powerlifting championships across the world and show that nothing is impossible when living with a rare condition.
Elizabeth has ocular Lambert-Eaton myasthenic (LEMS). It took 3 years to receive a diagnosis. In that time she received several misdiagnoses and ended up having to take early retirement. Learn more about myasthenia by visiting Genetic Alliance UK member, MyAware’s website.
Nisha has Congenital Myasthenia Syndrome. In this blog she shares the stats around her story and answers questions on what life is like with her condition. June is Myasthenia Awareness Month, join in by visiting Genetic Alliance UK member, MyAware's website.
Stuart has ocular myasthenia gravis. He shares how the diagnosis has affected his life. Learn more about myasthenia and how you can get involved in Myasthenia Awareness Month in June 2024, by visiting Genetic Alliance UK member, MyAware's website.
