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“Developing positive change in how we diagnose, treat and care for patients with a rare disease.” Rhetoric or reality?


One year on from the launch of the UK Rare Diseases Framework, Michelle Conway reflects on the changes she has seen within her 13 years of working with rare diseases. She suggests a way forward to improve outcomes and lived experience for the rare disease community

By Michelle Conway, CRD consulting
UK Rare Disease Framework

Inequity of access

My passion for improving access to care and treatments for people living with a rare condition was sparked in 2010, when I witnessed the inequity of access to the medicine produced by the company I was working for, across Health Board areas and regions, as well as between countries. This inequity extended beyond just access to a treatment and impacted access to specialist services, specialists, and support systems for those living with rare conditions. As we approach the first anniversary of the publication of the UK Rare Diseases Framework, I have been reflecting on how much things have really changed in the past 13 years.

The UK Strategy for Rare Diseases

The publication of The UK Strategy for Rare Diseases in 2013 was heralded by the rare disease community as something of a landmark for people with lived experience of rare conditions. This was the first time all four health departments from across the United Kingdom would come together and deliver against 51 commitments that aimed to empower those affected by rare diseases, support identification and prevention, ensure diagnosis and early intervention, deliver care coordination and improve research in rare diseases. The policy intent within the Strategy was to be commended; however, translating that policy into anything meaningful for the rare disease community was slow in development and it took until 2017 for a tangible action plan to be published, outlining how the strategy would be implemented.

The strategy ran until 2020 and set out great ambitions with potentially meaningful impact for those living with a rare condition. Some of the key deliverables were the promise of a clear and personalised care plan for every person, bringing together their health and social care needs; access to the information needed to support people living with rare conditions and their families and carers; improvements in diagnosis; improved training and resources for healthcare professionals and improved personalised approaches to managing rare conditions.

Has there been progress?

Of course there have been pockets of excellence delivered as a result of the strategy and it would be remiss not to recognise some of the policy developments that have occurred: greater opportunities for policymakers and payers to hear the patient voice through forums such as the UK Rare Disease Forum and improved opportunities for patient engagement with the UK Health Technology Assessment bodies; advances in the use of genomics in the identification of some rare conditions; engagement with the European Reference Networks (ERNs); and the advances in research, such as the 100,000 genomes project. However, did the strategy “ensure no one gets left behind just because they have a rare disease”? Perhaps the answer to that question can be found in the successor to the Strategy—the UK Rare Diseases Framework.

Published in January 2021, the new Framework outlines four key priorities for the four nations of the UK to “develop positive change in how we diagnose, treat and care for patients with a rare disease”. Sound familiar? The four priorities outlined within the framework are: helping patients get a final diagnosis faster, increasing awareness of rare diseases among healthcare professionals, better coordination of care and improving access to specialist care, treatment and drugs. Perhaps we should be reassured that these four priorities were informed by a national programme of engagement with those who have lived experience, including the National Conversation on Rare Diseases Survey. However, the fact that these are still the priorities suggests the policy intent of the UK Strategy for Rare Diseases was not realised, and the rare disease community is still fighting for many of the same support needs they had in 2013.

What does the future hold?

The current framework will run for five years from its publication, meaning that we should start to see significant progress in the four priority areas imminently. However, in the context of the current financial situation we find ourselves in because of Brexit, a pandemic and a war in Ukraine, and the impact this is having on our health services, one could be forgiven for feeling slightly pessimistic about the progress, particularly when we are one year into the delivery and Scotland has only just published its action plan.

Fortunately, there are some green shoots of growth within the UK, and it has been encouraging to watch the development of the Syndromes Without a Name (SWAN) Clinic in Wales, a two-year pilot commissioned through the Welsh Health Specialised Services Committee by the Welsh Government. This initiative aims to address the diagnostic odyssey of those who have yet to receive a diagnosis for their rare and complex condition and will provide an opportunity for specialist input through a coordinated approach, providing them with the opportunity to draw on expertise from across the UK and globally. The launch of the pilot to run full genome sequencing on 100,000 newborn babies is a further step in achieving the priorities set out in the framework and will ensure that parents are given the information and support they need at the very start of their journey.

Of course, rare diseases do not recognise borders. Perhaps, if we are to achieve the goal of the UN Resolution on Persons Living with a Rare Disease and ensure we implement this new UK Rare Diseases Framework to have meaningful impact, we need to look beyond our own organisations, regions and countries. So many great initiatives are occurring across the globe but all too often we try to deliver better outcomes in silos.

If we are truly determined to improve the outcomes and lived experience for the rare disease community and their carers and families, we must develop the collaborative mindset that was key to bringing us through the pandemic. We must share, learn, and hold each other—and ourselves—to account. And we must remember that at the end of every failed initiative or policy, there is a family who are sometimes struggling with the everyday, who are relying on us to make policy intent a reality.

About Michelle

Michelle Conway trained as a nurse, before moving from the NHS to the pharmaceutical industry, where she took up a role as a nurse specialist. Michelle discovered a passion for rare disease when working with a biotech organisation to launch a product for an ultra-rare disease. She then supported the company with the launch of several ultra-orphan medicines.

With experience across multiple roles in the biotech and pharmaceutical industries, Michelle has expertise in market access and policy work. Michelle supports projects requiring expertise and knowledge about the challenges of access and policy for medicines for rare cancers and orphan medicine launch-planning.

UK Rare Disease Framework

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