14th January 2020

Last Saturday (9th January 2021) the Department of Health and Social Care published the UK Rare Diseases Framework, which replaces the previous UK Strategy for Rare Diseases published in 2013.

But what does this policy mean for those with Addison’s disease, adrenal insufficiency and the rare disease community as a whole? On Tuesday, we caught up with Genetic Alliance UK and other patient organisations, to take a closer look at this new health policy. Read below to find out more about what we learnt and what we can do moving forward.

1 in 17 people will develop a rare disease at some point in their lives – that’s 3.5 million in the UK alone. The UK Rare Diseases Framework represents a commitment from the governments of all 4 UK nations (England, Scotland, Wales and Northern Ireland), to deliver a shared aim for people living with rare conditions.

This framework was put together in part thanks to the responses from the 'National Conversation on Rare Disease' survey, which was launched by the Minister for Rare Diseases at the time, Baroness Nicola Blackwood in October 2019. Many of the Addison’s community took part in this survey and your responses will have enabled the government to better understand what challenges are shared amongst the rare disease community, as well as the differences.

At our community catch up (via Zoom) held on Tuesday 12 January, made possible thanks to Genetic Alliance UK, Nick Meade from Genetic Alliance (who spoke at our 2019 AGM) gave more detail about the new Rare Disease Framework.

Genetic Alliance UK is a national alliance of organisations with a membership of over 200 charities, including Addison’s Disease Self-Help Group! We work together to build a unified and powerful rare disease community, supporting and sharing resources. Because as the saying goes, although rare diseases may be individually rare, they are collectively common!

The UK Rare Diseases Framework

So what is the UK Rare Diseases Framework? The Framework lists the priorities and underlying strategic themes that detail how the UK will address the challenges faced by those living with rare diseases.

The UK Rare Diseases Framework outlines 4 high-level priorities for rare diseases in the UK over the next 5 years.

4 high-level priorities

Below we comment on what these 4 priorities could mean for those living with Addison’s or adrenal insufficiency, as well as the whole rare disease community. 

  1. Helping patients get a final diagnosis faster. A fast diagnosis can mean quicker access to specialised care and avoids the diagnostic odyssey, potential misdiagnoses, and ultimately fatality in undiagnosed Addison’s due to adrenal crisis. On average, rare disease patients experience 3 misdiagnoses, visit 5 different doctors and wait over 4 years before receiving a diagnosis in the UK. It is excellent to see that the Framework acknowledges the importance of this for rare conditions. The ADSHG has an exciting announcement coming soon about our involvement in research into diagnosis (watch this space!) so there is a lot of hope for improvement in this area.
  2. Increasing awareness of rare diseases among healthcare professionals. No one can be aware of all rare conditions individually. So this commitment to additional education and training as well as using an array of digital tools to support quicker diagnosis and better patient care is key.
  3. Better coordination of care. We know as people living with a rare disease how we must become the expert patient, with the management of appointments and health services becoming a complex and time-consuming job. Many are unable to work or learn because of this impact. With joined up and high-quality care, the burden on patients and their carers could be significantly minimised. This acknowledges that chronic illness affects our lives as much as our bodies and better coordination of care throughout their patient journey is a key area to improve our quality of life. Genetic Alliance UK have done great work in this area through their Coordinated Care Of Rare Diseases (CONCORD) study, and we hope the Framework will drive the implementation of the study’s findings.
  4. Improving access to specialist care, treatments and drugs. With the UK’s exit from the EU, global collaboration in the development and delivery of treatments to improve care in the field of rare conditions, which require highly specialised diagnosis and treatment has never been more important. Rare diseases are rare, but experts are rarer still - Genetic Alliance UK’s work in Action or Access to improve access for rare conditions to potentially life-changing treatments highlights the difficulties in access.

The survey also identified several cross-cutting issues, which have also been included in the Framework as underlying themes. These are:

  • Continuing to champion the patient voice;
  • Pioneering research, so that we can harness the potential of cutting-edge science and translate outcomes into frontline clinical care.
  • Using digital tools, data and technology to improve efficiency, patient experience and research.
  • Maximising collaboration with the rare disease community in the UK and across the world to drive better outcomes for patients.
  • Ensuring alignment with wider policy so that rare disease issues are recognised across government.

Lord Bethell, the Minister responsible for rare disease policy in England says: "We will continue to work with the rare disease community throughout development of these plans and know that, as the experts for your conditions, you will have plenty of excellent ideas on how we can achieve the aims set out in the Framework."

Next Steps

Phase 1 is the UK Rare Diseases Framework! Now released, this provides a strategic direction for the UK’s Governments work on rare diseases across the next 5 years, at which point it will be reviewed.

In Phase 2, the four nations will develop an action plan, to deliver these commitments.

Where possible, each nation will aim to publish the action plans by the end of 2021. With the COVID-19 pandemic putting unprecedented pressures on the NHS we join Genetic Alliance UK in their comment: “we hope all four health departments and NHS recognise the value that these Action Plans will bring to ensure that people living with rare conditions have the best possible care, even – and perhaps especially – when the NHS is under such pressure. While these plans are unpublished – there is a gap in policy delivery for people living with rare conditions.”

Overarching policy for people living with rare conditions is necessary now more than ever and the ADSHG is committed to advocating on your behalf and working with the community as we drive forward the Government’s work on rare diseases. The Framework begins the work to tackle the most pressing barriers for improving the lives of those living with rare diseases – so the diagnostic odyssey no longer exists, patients and clinicians know far more about rare conditions, and care is of the highest standard possible.

The positive stories we hear from our community and experience in our own treatment show it is possible to deliver excellence and this new Framework starts the work to provide action plans needed to spread this excellence more widely and ensure that our community is sufficiently served by the system.

How you can help - call for contributions!

To make sure we feedback your views and represent our community correctly, we want to hear from you! If there's any project or research that you know about that might address or improve any of the priorities of the framework (or bits missed!) then we'd love to hear them. As prompts for your contribution - here's some discussion points for you - "having read the policy, in your opinion..."

  • What are the gaps?
  • Do you have a specfic nation comments?
  • What resources would provide better implementation?
  • What are your wider comments?

Let us know on: [email protected] including 'Rare Disease Framework' in the subject header.

In the future we'll need lots of help making sure the Governments know this is a priority for our community so the ADSHG will keep you updated on our continued involvement. Become a member to hear directly from us and join our community, or keep an eye on our social media channels and website for future news!


More info:

In November 2020, the ADSHG joined other representatives from the rare disease community for The All Party Parliamentary Group (APPG) on Rare, Genetic & Undiagnosed Conditions launch of 2 important new reports. You can read more about them here.
Genetic Alliance UK "Rare Experience 2020"
Alexion Pharmaceuticals, Inc. "Reforming Rare Diseases"