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Rare Disease Day is next Sunday 28 February. Ahead of then, learn more about rare diseases and the thousands of events you can get involved in on the day 
https://medium.com/rcpch-insight/what-is-a-rare-disease-adc70582ca24
https://medium.com/rcpch-insight/what-is-a-rare-disease-adc70582ca24
In the EU, a rare disease is defined as any condition that affects no more than 1 person in every 2000 people. 1/X
When rare diseases are considered as individual conditions, the number of people affected may seem small. When they are taken together, however, they affect a large number of people—and an estimated 300 million people worldwide live with one of 7000 rare diseases. 2/X
Around 80% are genetic, rather than environmental, in their origin, and only a quarter are well understood at the molecular level. 3/X
Rare diseases disproportionately affect children—75% of rare diseases affect children and more than 30% of children with a rare disease die before their fifth birthday. 4/X
Patients often require a lifetime of care, and living with a condition can have a huge impact on education, mobility, and mental health. 5/X
Parents and carers can often face a significant care burden, needing to take time out of work to look after their children. 6/X
Consequently, @DHSCgovuk recently emphasised the need to minimise the burden placed on carers: https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework 7/X
In January, the government published its UK Rare Diseases Framework, a policy paper that includes a commitment for the four nations to work with patients and their families to develop action plans. These are expected to be published later this year. 8/X
Rapid whole genome sequencing, meanwhile, has already started in Wales, and will soon be rolled out in England. This technology allows healthcare workers to rapidly test for and diagnose rare diseases in critically ill babies and children — and further our understanding. 9/X
The College, meanwhile, continues to collaborate with @BPSUtweet, a world-leading centre for paediatric disease surveillance that enables doctors and researchers to investigate the epidemiology of rare diseases. 10/X
The BPSU has facilitated research into over 100 rare conditions and many of their findings have influenced decisions relating to conditions and patients. 11/X
Funding for rare disease research can still be a challenge, especially for basic disease research such as epidemiology, diagnostics, and service evaluation. So the College has established its own Rare Disease Development Fund: https://www.rcpch.ac.uk/support-us/rare-disease-development-fund/brochure. 12/X
Funding these areas has the potential to accelerate diagnosis, improve health services, change public policy, and alleviate the emotional, financial, and social impacts of rare diseases—ultimately improving the lives of children and families affected by them. 13/X
Rare Disease Day is an observance day held on the last day in February that aims to raise awareness, improve access to treatment, and increase medical representation for patients and their families. 14/X
On the day, hundreds of patient-led organisations will host thousands local and national events—allowing the rare disease community to share experiences, offer peer support, and foster ongoing collaborative research. 15/X
Find out more and sign up for an event next Sunday at http://RareDiseaseDay.org . @rarediseaseday 16/X
