Europe's First Rare Disease Consultant Nurse Joins Cardiff and Vale to Improve Care for Those Living with Rare Diseases

In March 2026, Rhiannon Edwards was appointed to the role of Rare Disease Consultant Nurse at Cardiff and Vale University Health Board, a first-of-its-kind position designed to identify opportunities across the Health Board to connect patients’ medical care with wider services, including education, welfare and the workplace, which together can have a profound impact on an individual’s quality of life and day-to-day experience.

Rare diseases affect 180,000 individuals in Wales and 3.5 million people across the UK. Until now, the expectation for these patients in Wales has been that they coordinate and manage their own care across multiple agencies.

“Often, this can leave people feeling alone, unheard and isolated, overwhelmed by multiple appointments and the complexity of their needs, which often aren’t being supported.”

In her new role, Rhiannon will be exploring ways to standardise how patients interact with these vital services, helping to address some of the challenges historically experienced by the rare disease community by transitioning them from passive recipients of care to active participants in managing their health and wellbeing.

“As an underserved group, there are so many exciting opportunities for us to support coordinated care across the rare disease community.”

As a starting point, Rhiannon and her team have spent the last few months launching the Wales Digital Rare Care Centre, an online platform providing a single point of access for people living with rare diseases. It helps families connect with others in similar situations, building a sense of community and access to support in the same way that those living with more recognised conditions often have.

The centre, which is powered by Carecircle, has been developed in collaboration with individuals with lived experience and brings together health, social care, education, welfare and workplace support in one place, empowering patients to self-manage appointments, self-refer to NHS and non-NHS services, and access earlier interventions. The partnership with Carecircle means that Wales has the potential to be highlighted as a leader in digital health transformation across the world for those impacted by rare diseases, as their platform already works across 158 countries globally.

For professionals, the platform provides tailored education and resources designed to improve awareness, confidence and consistency in delivering person-centred care.

“This is a new way of working which I feel will play a vital role going forward in shaping how patients interact with the NHS and the other services across Wales, supporting families to understand how to communicate their needs, and for professionals to ability to find tailored information which provides the support they have lacked access to in the past.”

Evaluating the success of this new platform will be pivotal in understanding how initiatives such as this improve the lives of people living with rare diseases in a meaningful way.

“It is important we continually monitor the effectiveness of this resource and whether it is fit for purpose.”

Rhiannon and her team will continue working closely with those who have lived experience and are open to change should they find any aspect of the platform isn’t effective.

“We will be listening to feedback and adjusting our approach accordingly. The key thing is that Carecircle helps us to make meaningful connections between health, social care and the workplace, and if it’s not consistently doing that then we will be making changes.”

Looking ahead, Rhiannon hopes her role will help create a more connected, responsive and inclusive system for people living with rare diseases. By bringing together healthcare, social care, education and employment support, she aims to ensure individuals no longer have to navigate complex services alone. Through collaboration, innovation and ongoing engagement with those who have lived experience, she is committed to driving lasting improvements that help people living with rare diseases access the care, information and services they need throughout their journey.

Learn more about the Digital Rare Care Centre