Earlier this year, the Department of Health and Social Care (DHSC) published the UK Rare Diseases Framework to promote positive change in the way people with rare diseases are diagnosed, care for and treated.
According to Rare Disease UK, one in 17 people will be affected by a rare disease at some point during their lifetime, with 3.5 million people in the UK and 30 million people across Europe living with a rare disease.
It can often take a long time for people living with a rare disease to get a diagnosis – on average, it takes over five years to receive an accurate diagnosis.
The UK Rare Diseases Framework was informed by the National Conversation on Rare Diseases and also builds on the UK Strategy for Rare Diseases, as well as major advances in the diagnosis and treatment of rare diseases.
The rare diseases community, through the National Conversation on Rare Diseases, helped to identify four key priorities for the framework:
- Helping patients across the UK to get a final diagnosis for a rare disease faster
- Increasing awareness of rare diseases and use of genomic testing among healthcare professionals
- Improved coordination of care for people with rare diseases throughout the patient journey
- Improved access to specialist care, treatment and drugs for rare diseases.
The patient voice will be ‘central’ to the implementation of this framework, said the DHSC.
This will be done by working collaboratively with the rare diseases community to ensure the needs of patients are reflected across wider government policy, including mental health and social care.
The framework will also seek to sustain, improve and foster opportunities for intentional collaboration while continuing to offer an ‘attractive’ environment to researchers, clinicians and pharmaceutical companies in the UK.
Following on from the initial publication of the framework, all four UK nations will each develop and publish a plan detailing steps they will take to meet the aims identified in the framework.
These plans will be developed in collaboration with the rare diseases community, and also across nations, governments and organisations.
Biotech company bluebird bio has highlighted the personal stories of nine patients from seven countries, aged between four and 61, living with the rare inherited blood disorder thalassaemia to mark Rare Disease Day 2021.
The nine patients are featured in a video – ‘Living with Thalassaemia in Europe: Stories from patients of different ages’ – together with national patient group representatives and quotes from clinicians.
The video, filmed during the COVID-19 pandemic, tells the patients’ stories through a mix of selfie videos, still photography and animated facts to show the day-to-day perspectives of living with this condition.
For more information, click here.
Rare Disease Day 2021 is on 28 February and aims to raise awareness among the general public and decision-makers about rare diseases and the impact these conditions have on patients’ lives.
Launched by EURODIS and its Council of National Alliances in 2008, the campaign has become a worldwide event, with the US taking part from 2009 and over 100 countries participating globally by 2020.
Rare Disease Day was first celebrated in 2008 on 29 February, as it is a ‘rare’ date that happens only every four years. Since then, it has taken place on the last day of February in subsequent years.
For 2021, Rare Disease Day will shine a light on the global rare diseases community by spotlighting 6 continents, 6 portraits, 6 heroes, 6 lives, which features individuals living with a different rare disease and facing similar challenges.
For more information on Rare Disease Day, visit rarediseaseday.org
