Rare disease: final progress report

The Scottish Implementation Plan, It’s Not Rare to Have a Rare Disease was first published in 2014 following the publication of the UK Strategy for Rare Diseases Strategy in November 2013. This final report evaluates Scotland’s progress against each of those 51 commitments set out in the 2013 strategy.

4. Co-ordination of Care

Commitments 23-20

Some rare disease patients need expertise from a number of specialists and multidisciplinary teams. Well-co-ordinated care is essential when several specialists and hospital departments are involved in a patient’s care.

It is not the best use of time or resources if patients have to visit different departments at the same hospital on different days, particularly if the hospital is not close to their home. Problems can also occur if possible interactions between different treatments are not properly managed. This section describes some of our work in this area.

4.1 Co-ordination of Care Working Group

The Rare Disease Strategic Oversight Group (RDSOG) commissioned a second working group to look at how care could be better co-ordinated for people with rare conditions.

The short life working group set up a Co-ordination of Care Workshop on 26 March 2020, to review and consider the results of the use cases exercise at the UK Rare Disease Forum as highlighted at 1.2 above. The aim of the workshop was to explore the particular challenges faced in receiving or providing co-ordinated care for rare disease patients. The group developed four use case personas to draw out what might matter most to people in certain situations and to show how this may influence and drive their behaviours in the following scenarios:

  • A parent of a child with an undiagnosed rare disease.
  • A patient with a rare disease diagnosis who has difficulty getting the support they need.
  • A triage nurse in an Emergency Department (A&E) who has a patient with a diagnosed rare disease.
  • A GP seeing a parent with an undiagnosed rare disease.

The evidence gathered to develop the use cases show why some patients, their families or carers and health professionals may experience challenges with services and sets out what steps might need to be considered and applied when designing system solutions to drive better person-centred care and support that takes account of what really matters to them.

To help illustrate this further, using the first use case persona, the group wanted to understand what a parent of a child with an undiagnosed rare disease might:

  • hear or see;
  • what they might think;
  • how they might feel; and
  • what they might say


From other parents – how their child is developing

From health professionals – just wait, child develop at different paces; no that test would not be appropriate, yes we could try that.

From other children – what about me?


Why is my child different from other children?

I’m failing my child

There is no one else who has the same experience as me.

I need to see someone who will listen to me.

I want to be taken seriously

Will I ever know what’s happening to my child?

I’ll google it!

Will this affect my other children and any future child I might have?

I need more time to take my child to appointments.

Trying to lead a normal life not worth the effort.

I can’t cope.


Worried – don’t know what’s happening, how long will this last, will it get worse?

Frustrated – not being heard, not finding answers



Overwhelmed/can’t cope

Failing my family – partner/children

Guilty – my fault, what did I do wrong?

Grief for the child you hoped would be ok.



Panic - seek help from everywhere

Assertive with health professional – this is what I need.

Make excuses and not go out, actively avoid, I can’t make it today…

Check out with family and friends, do you think this too…?

Avoid talking to children


Then thinking about the parent’s goals from this scenario – what matters to them and what do they want to happen, the group came up with the following outcomes:

  • To get a diagnosis which will enable me to manage the symptoms my child is experiencing and enable my child to reach their potential.
  • Help me to understand the reason why my child is experiencing these symptom.
  • Provide more certainty about what might lie ahead.
  • Help my child access the support and treatment they need.
  • Enable others to improve awareness, understanding and acceptance to my child’s symptoms.

The Scottish Government policy team continue to use the evidence and feedback from the use case scenarios which will inform Scotland’s response to the UK Government Rare Disease Framework.

4.2 National Demand Optimisation Group

It is essential that those affected by a rare disease have access to the right test at the right time and in the right way. Reducing or eliminating unnecessary testing can help deliver enhanced decision-making in patient care.

In 2015, the Scottish Government funded the establishment of the National Demand Optimisation Group (NDOG), in line with deliverable 3 of the Healthcare Science National Delivery Plan “Driving Improvement; Delivering Results”. The group has since been active in highlighting a variety of quality improvement activities associated with the promotion of appropriate laboratory test use.

During Phase I, the NDOG identified already existing demand optimisation work as well as undertaking a number of feasibility pilots to identify unwarranted variation, with a view to designing targeted interventions. It was recognised that there was a need to maintain the momentum from the initial successful phase of the programme and to implement improvement strategies locally and nationally, embedding the values and tools of demand optimisation into operational practice. To enable this, the following recommendations were made:

  • pilot and promote the Atlas of Variation with referring clinicians.
  • sustain ongoing Quality Improvement initiatives.
  • develop and monitor new Quality Improvement projects.
  • ensure alignment with the values of Realistic Medicine and contribute to the Scottish Government’s vision for the future of primary care services.

The published report summarising Phase II work highlighted the programme’s successes including the regular collection of data that captured diagnostic test requesting activity, presenting it in an easy accessible format, and coordinating with laboratory network clinical leads to initiate and progress quality improvement initiatives.

The NDOG has now concluded its third phase of operation and the Phase III Report is due to be finalised and published in the near future. Notable achievements of the third phase include:

  • development and refinement of a Scottish Atlas of Variation for Laboratory tests that clearly demonstrates significant unwarranted variation in laboratory test use and availability.
  • meaningful engagement with Primary Care to develop a GP Atlas view.
  • creation of pilot dashboard summary views for both GP and Laboratory professional groups to interrogate.
  • data collection to populate the Atlas has now stretched to cover three individual years (2017, 2018 and 2019).
  • development of NHS Board flash reports that focus on requesting patterns for individual tests along with educational guidance on appropriate test use; continuation of a programme of quality improvement initiatives.

Funding for Phase IV has been approved and work has commenced on mapping priorities for the year ahead.

4.3 Co-ordinated Care of Rare Diseases Concord Study

The CONCORD (Co-ordinated Care Of Rare Diseases) study is looking at how care services for people with rare diseases are co-ordinated across the UK, and how people affected by rare diseases and health care professionals who treat rare diseases would like them to be co-ordinated. It is a collaboration between patients and carers affected by rare conditions, health care professionals with expertise in rare conditions, and health services researchers.

Genetic Alliance UK is part of the wider group involved in the study based at UCL, which began in June 2018 and is funded by the National Institute for Health Research (NIHR) Health Services and Delivery Research Programme. The work of the research team was completed in November 2020 and a final report on study findings is due to publish in January 2021. The findings of the report will be carefully considered in the development of the post 2020 Action Plan for Scotland, so that rare disease patients can experience better coordination of care throughout their patient journey.

Rare disease patient quote showing the impact that good co-ordinated care can make to patient’s lives.

Going to many different clinics seeing lots of Doctors, many of whom have never seen your version of your condition, is really stressful. Driving two hours each way to a hospital on your own is tough. Not knowing how your appointment will go or what else you can try to bring your symptoms under control. Add to all of that remembering to go to the GP surgery to pick up a print out of all the results of the blood tests you had the week before, in advance of maybe starting a new drug. If you forget, no treatment decision can be made unless somebody at the clinic has time to phone the GP for the results. Nurses are all too busy, Receptionists too busy, Doctor running late, you’re distraught that you forgot, but you had too many things to remember yesterday.

Not anymore. Nowadays, the results of tests done anywhere in Scotland are easy for Consultants to see. A quick e-mail or phone call to let the Consultant or their Secretary know when the tests are done so that they can check them online makes everything safer, more straightforward and a lot less stressful. Thank you!

4.4 European Reference Networks

We know that working with the other countries in the UK, Europe and internationally remains vitally important to support research and improve access to diagnosis, information and care for rare disease patients, particularly for ultra-rare diseases with low numbers of patients. In Scotland, we collaborate through UK participation in the European Reference Networks (ERNs). ERN’s are virtual centres of knowledge, skills and expertise involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialised treatment, and concentrated knowledge and resources.

The uncertainty around the UK Exit from the EU remains a challenge. Especially the effect that this will have on the European Reference Networks (ERNs) and access to healthcare systems across Europe. We continue to work closely with colleagues in the rest of the UK on this matter. More detail on the work of ERNs to support the response to COVID-19 can be found at 6.2 below.

4.5 Nationally Designated Specialist Services

Specialist services provide support to patients living with a rare condition or who have highly specialist needs. National Services Division (NSD) commissions specialist and highly specialist services.

NSD advises applicants who are considering submitting a proposal for a specialist service and supports the application process (stages 1-3). The National Specialist Services Committee (NSSC) and National Professional Patient and Public Reference Group (NPPPRG) provides a robust advisory and decision making structure to the application process.

NSD launched a new website in 2020, to improve access to information for staff from other NHS organisations and patients about the services, networks and other programmes that they commission. The website is currently in its Alpha Testing phase and will be further developed in 2021/22.

At the moment, due to the ongoing impact on COVID-19, applications for new specialist services are paused. However exceptions are being made for applications where there is evidence that these are likely to lead to direct patient safety improvements; are either cost-neutral or cost saving; and can be taken forward without additional resource.

Work has continued for services that were already progressing through the application process. Progress on those specifically relating to those with a rare disease includes:

  • Amyloidosis Service/Network - The associated Network Lead Clinician has begun to draft an application for future consideration.
  • Inherited Metabolic Diseases - This service was formally commissioned in at the end of 2018. NSD continues to work with the main host health board, NHS Greater Glasgow and Clyde, to develop this service and a number of key additional posts have been appointed since the service was designated. Work is ongoing to repatriate the care of patients who have previously had their care overseen by centres in England.
  • National Peri Hilar Cholangiocarcinoma Service - This rare cancer has an incidence of approximately 1 in 100,000. Surgery represents the only chance of long term survival. It was proposed that there be one provider of the National Peri Hilar Cholangiocarcinoma Service, at the Royal Infirmary of Edinburgh. This is now progressing to a Stage 2 application.


Email: carol-anne.redpath@gov.scot

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