25 - Rare Disease Day 2021

Rare Disease Day 2021, on 28 February, aimed to raise awareness among the general public and decision-makers about rare diseases and the impact these conditions have on patients’ lives.

In 2021, Rare Disease Day focused on the global rare diseases community by spotlighting six continents, six portraits, six heroes, six lives, featuring individuals living with a different rare disease and facing similar challenges.

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.

The first Rare Disease Day took place on 29 February 2008, to co-incide with the ‘rare’ leap year day that only happens once every four years. Every year since then, the event has taken place on the last day of February.

For more information on Rare Disease Day, visit rarediseaseday.org

To mark Rare Disease Day 2021, biotech company bluebird bio highlighted the personal stories of nine patients from seven countries, aged between four and 61, living with the rare inherited blood disorder thalassaemia.

The nine patients are featured in a video – ‘Living with Thalassaemia in Europe: Stories from patients of different ages’ – along 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.

The UK Rare Diseases Framework was published by the Department of Health and Social Care (DHSC) earlier this year, and focuses on develop positive change in how patients with rare diseases are diagnosed, cared 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.

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 disease 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 framework will seek to sustain, improve and foster opportunities for international collaboration while continuing to offer an ‘attractive’ environment for 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.

Raising awareness on Rare Disease Day 2021