News and stories

The latest Action Plan to implement the UK Rare Diseases Framework in England is out today. Minister Ashley Dalton, Parliamentary Under Secretary of State for Health and Social Care, introduced the paper on Tuesday at the Rare Disease Day Westminster reception. As at last year’s event the minister praised Genetic Alliance UK and our members for the advice and support we have provided to this plan’s delivery. The minister also spent time before her speech meeting many of our members and people living with rare conditions.

NICE publishes first quality standard to improve care for people with rare conditions

You can now fundraise for Genetic Alliance UK, SWAN UK and Rare Disease UK on our new JustGiving page.

For Rare Disease Day 2024, Rebecca Starkie, Senior Global Patient Engagement Director, Advanced Clinical, shares some patient insights and talks about the challenges and innovations in clinical research.

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 Big Sunflower Project aims to raise awareness of the rare neuromuscular conditions known as centronuclear and myotubular myopathy by asking people to grow a sunflower and share their sunflower photos online. The project was established in 2011 after founder Toni Abram and her father Mike were diagnosed with centronuclear myopathy.

Anthony was diagnosed with ITP in July 2006. In 2024 he realised that the rare auto immune disorder has taken up 28 per cent of his life.

Tammy went through lots of tests and people telling her that symptoms were psychological before she finally got her diagnosis of eosinophilic gastroenteritis.

Elle has been diagnosed with Postural Orthostatic Tachycardia Syndrome, Elhers Danlos type 3 and Gastroesophageal reflux disease. However this hasn't stopped her achieving her goals.

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