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RareCare
Closing the delivery gap in rare disease policy
RareCare is an NIHR funded evaluation of the UK Rare Diseases Framework and England's Rare Diseases Action Plans. Over the past three years, the programme has brought together lived experience, healthcare professional insight, indicator development and routine health data analysis to explore what progress in rare disease policy looks like and how it could be measured in future.
The reports recognise important progress in rare disease policy, research and infrastructure. They also show a delivery gap between national policy ambition, service delivery, and what people living with rare diseases and their families experience in everyday diagnosis, care and support.
RareCare is an important evidence base for the next phase of rare disease policy. Read the reports below.
Report 1 — Measuring What Matters
What gets measured shapes what gets prioritised.
This report looks at how future rare disease policy evaluation can measure meaningful change across system activity, service delivery and lived experience and family impact. It makes the case for looking beyond completed actions so we can understand whether change is reaching services, people living with rare disease and their families.
Health inequalities
Future measurement needs to show not only whether things are improving, but for whom. National averages can hide important differences by geography, deprivation, age, sex and ethnicity, so inequalities should be visible wherever the data allows.
Report 2 — Measuring Diagnostic Journeys
Measuring Time to Diagnosis cannot be reduced to one simple number.
This report explores the complexity of diagnostic journeys, including different definitions of diagnosis, possible start and stop points for diagnostic journeys, different routes to diagnosis and the limitations of routine NHS data. It also shows why speed needs to be considered alongside accuracy, communication, support and equity.
Health inequalities
The report also highlights the importance of understanding inequalities in diagnostic journeys. Future measurement should examine differences by geography, deprivation and demographic factors, and make clear where the available data cannot show the full picture.
Report 3 — RareCare Evaluation
The Evaluation Report looks at whether progress in rare disease policy is reaching everyday care and experience.
It recognises important policy activity while highlighting a continuing delivery gap between policy visibility and people's experiences of diagnosis, care and support. The report brings together lived experience and professional evidence to consider what has changed and where gaps remain.
Health inequalities
The evaluation also highlights inequalities in diagnosis, access and experience, including differences between regions. Future policy evaluation needs to ask not only whether progress is happening, but whether it is reaching people fairly.
Report 4 — Designing for Inclusion
Lived experience should not only shape what research finds. It should shape what research asks.
This report shares learning from RareCare's lived experience led approach, including PPIE, the Research Advisory Group, patient organisation involvement and the Peer Researcher Programme. It shows why meaningful inclusion needs to be designed, supported and properly resourced from the beginning.
Inclusion and inequalities
RareCare aimed to reach beyond the usual voices and support broader participation, including people from ethnic minority communities, younger people and geographically dispersed communities. Who takes part matters because it shapes what policy makers hear.
What RareCare tells us
A key message across RareCare is that future evaluation needs to look across three connected levels:
Without all three, it is too easy to measure activity without knowing whether life is improving for people living with rare diseases and their families.
Health inequalities run across system change, service delivery and lived experience. Future rare disease policy evaluation should ask not only whether things are improving, but for whom. National averages can hide important differences in diagnosis, access, support and experience.
System level change
Policy commitments, national programmes, infrastructure, funding, data systems and workforce plans.
Lived experience and family impact
Whether people and families experience better diagnosis, care, support, access, equity and quality of life.
Service level delivery
Whether those changes are reaching everyday care, including referral pathways, diagnosis, communication, coordination, specialist advice and access to services.
Animations
RareCare Lexicon
This short animation explores how people can think and talk about diagnosis in different ways. It shows that diagnosis is not always a single moment or a single definition, and that different terms can reflect different stages and experiences of the diagnostic journey.
Designing research with
lived experience
Who takes part in research matters because it shapes what policy makers hear. This animation shares how lived experience was built into RareCare and how the Peer Researcher Programme supported inclusion, trust and stronger evidence.
Join our Webinar
Join us for the official launch webinar of the RareCare evaluation: What Happens Next? Turning Evidence into Action.
We'll be joined by leaders from the Office for Life Sciences, Genetic Alliance UK, Alstrom Society, and RareCare to discuss how lived-experience research and parallel sector work come together to inform future rare disease policy development, delivery and evaluation.
Thursday 17 September 2026, 13:00–14:00 BST
After registering, you will receive a confirmation email containing information about joining the meeting.
Thank you
RareCare has been shaped by contributions from people living with rare diseases, carers, patient advocacy organisations, peer researchers, healthcare professionals, researchers, the PPIE Group and the Research Advisory Group.
We are grateful to everyone who shared their expertise, experience and time with the programme.
RareCare was funded by the National Institute for Health and Care Research (NIHR).
This study/project is funded by the NIHR (RareCare: Evaluation of England's Rare Diseases Action Plans, NIHR205983). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care.
Contact
Josie Godfrey, Co-Lead Investigator & Policy — josie@realiseadvocacy.com
Lindsay Birrell, Patient and Public Involvement Lead — lindsay@realiseadvocacy.com
Consilium Scientific, general enquiries — management@consilium-scientific.org