Cymraeg icon Cymraeg
Swan family-2

Welsh Government highlights developments to help people with rare diseases and lights up Cathays Park building to raise awareness on Rare Disease Day

Llywodraeth Cymru yn amlygu datblygiadau i helpu pobl â chlefydau prin ac yn goleuo adeilad Parc Cathays i godi ymwybyddiaeth ar Ddiwrnod Clefydau Prin

The development of a new app, which allows users to share their health profile and potentially draw attention to rare or complex medical conditions with health services, both in the UK and abroad – like a passport – has been highlighted on Rare Disease Day by Health and Social Services Minister Eluned Morgan.

The Care & Respond app has been developed in Wales with Welsh Government funding to support clinical decision making in cases of emergency and other time critical situations.

It is hoped it will also improve coordination of care for those affected by rare diseases, like the Swan family from Caerphilly.

Their daughter, Lucy, has Snijders Blok Fisher Syndrome, a neurodevelopmental disorder which sees her suffer with hypotonia and sensory processing issues among other things.

For years they had no name for the syndrome affecting her, which left them feeling isolated and alone.

Lucy’s mum Claire said:

“The awareness around undiagnosed and rare genetic conditions is very minimal. It would have helped my family and many families before and after mine if the understanding was increased. I am also sure this would aid a smoother process for families and enable faster diagnosis.

“After fighting for what felt like forever we finally had a diagnosis for our daughter’s ultra-rare genetic condition. This is something some families never achieve. I couldn’t help but cry.”

The Welsh Government is also lighting up its Cathays Park building this Rare Disease Day to raise awareness of the event and its work to improve the lives of those living with rare conditions.

Health and Social Services Minister Eluned Morgan said:

“Rare disease patients and their families can face a lifetime of complex care. Living with a rare disease can also have a huge impact on education, financial stability, mobility, and mental health.

“It is vital we include the voice of rare disease patients when developing wider health and social care policy.

“I am delighted the Care & Respond app is being developed and I am confident it will streamline communication and understanding around conditions for both users and health professionals.

“Our new Innovation Strategy, Wales Innovates launched yesterday and this is a fantastic example of what can be achieved through this strategy and collaborative working."

The Welsh Government is currently implementing the Wales Rare Diseases Action Plan, and funding the UK’s first SWAN (Syndrome Without a Name) Clinic, based at the University Hospital of Wales, in Cardiff.

The Minister for Health and Social Services, Eluned Morgan, added:

“The SWAN clinic brings hope and reassurance to families, offering a ‘one stop shop’ with access to specialists and cutting-edge investigations. This is a huge step to shortening the time people are living with an undiagnosed disease.

“We are also the first UK nation to offer genome genetic testing to very ill children and the first nation to appoint a national clinical lead and an NHS programme manager to support the implementation of our Rare Diseases Action Plan.”

Notes to editors

Interviews with Claire Swan are available on request.

A rare disease is defined as a condition which affects fewer than one in 2,000 people. It is currently estimated that there are more than 7,000 rare diseases, with new conditions continually being identified as research advances.

Although rare diseases are individually rare, they are collectively common, with one in 17 people being affected by a rare disease at some point in their lifetime. This equates to about 170,000 people in Wales.

The Care & Respond app has been developed in Wales by Science & Engineering Applications Ltd, in collaboration with various patient groups and partners. The passport has been developed with the Rare Diseases Implementation Group and Betsi Cadwaladr University Health Board.  The Care & Respond platform has been developed with the Welsh Ambulance Services NHS Trust; Cwm Taf Morgannwg University Health Board; Cwmpas and Grŵp Cynefin.  The project received funding from the Welsh Government via the Welsh Health Hack and Welsh Social Care Hack.

The Welsh Action Plan is helping implement the UK Rare Diseases Framework, a collaboration between all four UK nations and the rare disease community to address health inequalities, improve the quality and availability of care, and improve the lives of people living with rare diseases.

Wales Rare Diseases Action Plan 2022 - 2026 - NHS Wales Health Collaborative

The UK Rare Diseases Framework (