The importance of understanding experiences of care for those living with rare diseases

The 28^th February 2026 marks Rare Disease Day, a day dedicated to raising awareness for people living with rare diseases, advocating for equal access to healthcare, and establishing a supportive global community. While work to advocate and support people living with these conditions should take place every day, Rare Disease Day is a timely reminder of why understanding the experiences of people with rare conditions is essential for improving care.

In the UK, a rare disease is classified as one affecting fewer than one in 2,000 people. Yet with more than 7,000 different rare diseases identified, and more still unnamed, the impact is significant. Around 3.5 million people in the UK and 30 million people across Europe are living with a rare condition¹.

Rare diseases are often misdiagnosed or take many years to identify. Limited awareness among healthcare professionals, combined with the clinical complexity of rare diseases, contributes to these delays. People living with these conditions also often need to travel long distances to reach specialist centres where expertise is available. This means individuals face prolonged uncertainty, delayed access to appropriate care, and additional strain on their daily lives.

Little is known about many rare diseases and, given their low prevalence, research examining the care, treatment and quality of life for those living with these conditions is often limited. As a result, the unique experiences of millions living with severe conditions often remain invisible.

UK Rare Diseases Framework

The challenges experienced by those living with rare conditions are not unknown however – it is widely recognised that there is a lack of support for these individuals – and steps are being taken to reduce the inequity of care. The government developed the UK Rare Diseases Framework in 2021, which highlights the four priorities for improving care for people living with these conditions. This included: improving awareness of conditions amongst healthcare professions, reducing delays to diagnosis, improving coordination of care and improving access to care and treatment. Patient voice is one of five themes that underpins the implementation of this framework, where governments should be ‘putting the patient voice at the heat of its decision making’.

While progress is being made – each of the devolved nations has produced an annual progress report and/or Rare Diseases Action Plan following the framework’s launch – the impact this framework has had on improving the experiences of care and life for individuals living with rare diseases remains unclear.  With the framework now extended to 2027, there is an opportunity to strengthen the evidence base and demonstrate progress against improvements in experience.

It is widely accepted that an individual’s experience, alongside safety and effectiveness of treatment, is a central component of care quality. Ensuring the voices of those with rare conditions are heard is therefore essential to understanding and improving person centred care. As an organisation that is dedicated to understanding person centred care and experiences of health and social care, Picker has conducted research on a number of rare diseases. A recent study we conducted into two rare syndromes was published last week.

Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS)

Marfan syndrome and Loeys-Dietz syndrome are genetic connective tissue disorders that impact the skeletal, cardiovascular and ocular system. Picker collaborated with the Marfan Trust to design and deliver a national survey exploring the experiences of people living with these syndromes. The survey development included:

• A scoping review to identify existing evidence and inform key topics.
• Semi-structured interviews with those living with Marfan and/or Loeys-Dietz syndrome to capture in-depth personal experiences.
• Questionnaire design and testing to ensure clarity, relevance, and ease of completion.

The survey ran online and received nearly 400 responses. By capturing the voices of those directly affected, the study revealed delays in diagnosis, limited access to specialist services, and significant impacts on daily life for those living with MFS and LDS. Key findings included:

• One in 10 people waited more than five years for a diagnosis.
• Only 34% of participants had a named healthcare professional overseeing their care.
• Less than a quarter (23%) of respondents felt they had received enough information from healthcare professionals about their condition or treatment.

The findings from the national survey will be used to shape national conversations, improve care pathways, and ensure that future treatment and support align with patient needs and preferences.

Importantly, the themes identified through this survey reflect challenges that extend beyond MFS and LDS, demonstrating why research into rare disease experiences is essential to understanding the challenges faced by millions of individuals and families, who are navigating conditions that are not widely understood. It provides crucial insights into issues such as diagnostic delays, gaps in care, and the emotional, social, and economic support needs experienced by those with rare conditions – which are not captured in standard clinical data.

By amplifying patient voices, research into rare conditions guides the development of more effective, person centred care, treatment and support services, informs healthcare policy, and promotes equitable access to healthcare. Ultimately, understanding the experiences of those living with rare diseases drives innovation, improves quality of life, and ensures that care pathways are shaped by the people who rely on them most.

If you would like to discuss this blog further or require help in understanding experiences of those with rare diseases, please contact us at: [email protected].