March 2023

Rare Disease Day 2023 (RDD2023) on 28th February was a focus for the 1 in 17 people in the UK living with conditions, like EB, that each affect fewer than 1 in 2,000 people. EB, cystic fibrosis, motor neuron disease and thousands of other individual conditions are rare diseases, but millions of people in the UK are affected by them and many of the issues around delays in diagnosis and access to treatment are shared. 

RDD2023 events across the UK were used to launch the 2023 Coordinating Care Report which describes the results of the CONCORD (CoOrdinated Care Of Rare Diseases) study and highlights five themes:

💙 Coordinating complex medical care

💚 Delivering well-organised logistical support

💜 Assisting an effective transition from children’s services to adult services

💙 Bridging the gap between healthcare and other services, such as education and benefits

💚 Integrating support from rare condition charities and support groups.

 

Read the 2023 Coordinating Care Report from Genetic Alliance

 

                      Director of Member Services, Claire Mather and Engagement Lead, Sophie Jones at Genetic Alliance UK's Rare Disease Day Westminster reception. 

The RDD2023 events included moving presentations of personal experiences by people living with rare conditions and official updates on the Rare Diseases Action Plans for each part of the UK. These were produced in 2022, (updated in England with a second plan launched on RDD2023), to address four priorities set out in the UK Rare Diseases Framework:

• Ensuring patients get the right diagnosis faster
• Increasing awareness of rare diseases among healthcare professionals
• Better coordination of care
• Improving access to specialist care, treatments and drugs

The action plans are available on our website along with more information about how our research strategy takes account of EB being a rare condition as we continue to fight EB by funding research towards a life free of pain for those living with EB.