UK government announces new Rare Diseases Framework

The UK government has announced a new framework to raise awareness of rare diseases, speed up diagnosis and improve care and treatment.

The UK Rare Diseases Framework, signed and agreed by all four nations of the UK, builds upon the successes of the previous strategy and was developed in consultation with those living with rare diseases following the National Conversation on Rare Diseases.

Rare diseases often start through unusual patterns of common symptoms that can be hard for a GP to recognise, and there can often be trips to multiple specialists before a final diagnosis is reached. This can take years and can have a big impact on patients, their families and the NHS.

The new framework sets four priorities across England, Wales, Scotland and Northern Ireland including:

1) Helping patients get a final diagnosis faster
2) Increasing awareness of rare diseases among healthcare professionals
3) Better coordination of care
4) Improving access to specialist care, treatments and drugs

DC Action welcomes this new framework and hopes it will pave the way for new research breakthroughs and better access to care for people with rare conditions, including dyskeratosis congenita, across the UK.

You can see the full framework here: