1. THE UK STRATEGY FOR RARE DISEASES
Farhana Ali
Public Affairs Manager
Rare Disease UK
Climb Conference 8 October 2016

2. Rare Disease UK is a campaign managed by Genetic Alliance UK, the national charity of over 180 patient organisations. Climb is member!
We were was established in 2008 in response to an EU led movement which recognized that more needed to be done by European countries to meet the needs of their populations who were affected by rare conditions.
We started off with only a handful of people supporting the campaign, since then we’ve come a long way, and now we have over 2,000 supporters including 300 patient organizations.
We bring together all stakeholders with an interest in rare diseases and believe that by working together we can keep rare diseases high on the political agenda.
Our goal is to bring about lasting change. We work on a UK-wide basis to ensure patients affected by rare conditions have equitable access to health and care services, no matter where they live in the UK.

3. RARE DISEASE UK
Established in November RDUK is the national multi-stakeholder campaign for people with rare diseases and all who support them. We have over 2,000 supporters, including:
300+ patient organisations;
20 pharmaceutical companies;
Professional bodies, clinicians, health professionals & researchers;
Individual patients and families.
RDUK was established in 2008 in response to an EU led movement which recognized that more was needed to be done by European countries to meet the needs of their populations who were affected by rare conditions.
We started off with only a handful of people supporting the campaign, since then we’ve come a long way and now we have over 2,000 supporters with an interest in rare diseases.
Rare Disease UK is the only project in the UK that brings together all stakeholders with an interest in rare diseases. Our membership of over 280 patient organisations is the largest alliance of patient organisations that we are aware of in the UK. By working together we can keep rare diseases high on the political agenda.
By capturing the experiences of our members, the patients and families affected by rare condition, we seek to mobilize and provide a unified voice for the rare disease community. By working together with our members, the people in this room, we’ve been able to raise the profile of rare diseases across the UK so that each UK government and NHS views rare diseases as a public health priority.
Our goal is to bring about about lasting change offering better health and quality of life for individuals and families affected by rare diseases. We work on a UK-wide basis to ensure patients affected by rare conditions have equitable access to health and care services, no matter where they live in the UK.
In order to do this, our focus has been to influence the development and the implementation of the UK Strategy for Rare Diseases.

4. THE UK STRATEGY FOR RARE DISEASES
EU Recommendation on rare diseases (June 2009) –called for the development of national plans for rare diseases.
It all started in 2009, when the Council of the European Union recommended that all EU nations develop strategies to address the needs of those with rare diseases by the end of 2013.

5. THE UK STRATEGY FOR RARE DISEASES
People living with rare diseases in the UK needed health services that would deliver better health outcomes.
Patients and families were experiencing inconsistencies in accessing medicines and healthcare.
With over 8,000 different rare diseases a UK-wide strategy for rare diseases was needed.
Since then RDUK worked to ensure that the UK’s health departments acted this obligation. Why did we do this? Simple.
People living with rare diseases in the UK needed health services that would deliver better health outcomes.
In 2010, our survey of 600 families demonstrated why improvements to rare disease healthcare was needed:
46% of patients with a rare disease had to wait over one year for a correct diagnosis…. 20% had to wait over five years for a diagnosis.
52% of patients or families felt they weren’t given enough information on their condition following diagnosis.
75% of patients didn’t have a dedicated person to coordinate their care.
Essentially what we found was that patients and families were experiencing inconsistencies in accessing medicines and healthcare.
The systems and structures are not in place to adequately respond to the needs of many of those affected by rare diseases.
With over 8,000 different rare diseases a UK-wide strategy for rare diseases was needed.

6. SUCCESS!
As a direct result of our efforts and that of our supporters, in November 2013, literally less than a month before the four-year deadline, the ‘UK Strategy for Rare Diseases’ was published.
We were pleased to see that the document was very similar to an RDUK report that had been published two years earlier.

7. THE UK STRATEGY FOR RARE DISEASES
First time the four UK governments worked together to produce a single comprehensive strategy for rare diseases.
Five themes: empowerment; diagnosis; prevention & early intervention; better co-ordination of care; research & development.
51 commitments across all four devolved administrations.
The UK Strategy for Rare Diseases is the first time the four UK governments worked together to produce a single comprehensive strategy for those affected by rare diseases.
Since the publication of the UK Strategy, RDUK has been instrumental in taking forward implementation in each home nation. We know that a cohesive and well-implemented strategy would improve the health and quality of life of those living with a rare condition.

8. KEY FEATURES
A clear personal care plan for every patient that brings together health and care services.
Making sure patients, their families and carers have the information they need, are listened to and consulted.
Developing better methods of identifying and preventing rare diseases.
Improving diagnosis and earlier intervention for those with a rare disease.
Better education and training for health and social care professionals.
Building on research to improve personalised approaches to healthcare for those with a rare disease.
A clear personal care plan for every patient that brings together health and care services
Making sure patients, their families and carers have the information they need, are listened to and consulted.

9. All four nations committed to launching ‘their own national plans…
PROGRESS
Effective implementation will help to secure the best use of resources and help create a framework for the research necessary to support the development of innovative therapies for unmet medical needs.
It’s been almost three years since the launch of the strategy and we are at varying stages of progress in its implementation – In Wales, Scotland and Northern Ireland have all developed implementation plans and have also established implementation groups to provide oversight of the plan.
However, progress has been very slow in England… where there has been no plan. The DH in England has failed to coordinate its arms length bodies including NHS England and NICE to publish a plan of action. NHS England has at least published a Statement of Intent for England February 2014 and has been making some progress, as has NIHR – but none of this is being coordinated and we risk going back to square one.
Despite all of this there has been some impressive advancements, once such example is the establishment of a national rare disease register by Public Health England. Soon will know exactly how many people are affected rare conditions in England; this will be invaluable for improving treatment and research into rare disease
All four nations committed to launching ‘their own national plans…
by the end of February 2014’

10. UK RARE DISEASE FORUM
Charged with overseeing the implementation of the UK Strategy for Rare Diseases across the UK
Progress report published in February 2016 noted that without an implementation plan for England it was difficult to see where improvements had been made.
Despite this, the Department of Health in England has failed to develop a plan.
The UK Rare Disease Forum is the group that has been charged with overseeing the implementation of the UK Strategy for Rare Diseases across the UK,
Earlier this year, the group published a progress report, which if I’m being honest, isn’t a great document.
While the report shows there has been good progress overall. The lack of a strategy implementation plan for England also makes it difficult to link any improvements directly to the objectives of the UK Strategy.
Despite this, the Department of Health in England has failed to develop a plan.

11. PATIENT EMPOWERMENT GROUP
The Patient Empowerment Group (PEG) is a collective of policy aware, focused, expert patient representatives that have been following and supporting the UK Strategy for Rare Diseases since its conception.
The purpose of the group is to ensure that the patient voice is properly informed and effectively represented in the implementation of the UK Strategy for Rare Diseases. 
Climb is a member of PEG.
What did RDUK do?
We established PEG. PEG consists of patient representatives from RDUK and Genetic Alliance UK's membership, and includes a wide range of rare and genetic conditions. 
The group is chaired by Nick Meade, Director of Policy at Genetic Alliance UK. Nick is a patient representative on the UK Rare Disease Forum.
Through PEG we’ve been pushing for the implementation of the UK Strategy for Rare Diseases.

12. COORDINATION OF CARE
Well coordinated care is essential when several specialists and hospital departments are involved in providing care.
It is not the best use of time or resources if families have to visit different departments at the same hospital on different days.
A patient should have an evidence based care plan that identifies the anticipated course of the condition and sets out the responsibilities of specialist, general and primary care services.
The UK Strategy for Rare Diseases contains 51 commitments to ensure those living with rare conditions with the highest possible quality of evidence based care and treatment. There are, however, few specific provisions for patients with a rare condition who will need to transition between care providers.
The UK Strategy for Rare Diseases does however recognise that coordination of care is vital in the management of care and treatment. It notes that it’s 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.
A patient should have an evidence based care plan that identifies the anticipated course of the condition and sets out the responsibilities of specialist, general and primary care services.

13. TRANSITION
Advances in science and medicine have led to better health outcomes.
“One of the things that people often used to say to me was that they never expected their son or daughter to survive and become an adult.”
Better treatments mean that patients affected by rare diseases will be requiring a transition plan for the first time.
Advances in science and medicine have led to better health outcomes for patients living with a rare condition. Patients who previously would not have survived childhood are now living on into adulthood, a fact that should be celebrated.
The quote on the slide from a nurse working in rare diseases.
Better treatments mean that patients affected by rare diseases will be requiring a transition plan for the first time and the challenge now will be for healthcare systems in the four nations to develop age appropriate services for these patients.
In light of this, Rare Disease UK undertook a study to gain a better understanding of the issues faced by patients transitioning both from child to adult care and from adult to older age care. As well as a small number of patients who have experienced transition from adult into older age care and also from older age into end of life care.
We spoke to patients affected by rare conditions and their families from across the UK about their experiences.

14. KEY FINDINGS
Good communication and coordination are essential for successful transition
Patients and families feel disconnected from the transition process
Age-appropriate services are not always available to patients
Medical professionals receive insufficient training in adolescent care and medicine
“Who wants to transition to someone who’s never seen a case of your very rare condition before?”
KEY FINDINGS:
Good communication and coordination are essential
Medical professionals receive insufficient training in adolescent care and medicine
Medical professionals receive insufficient training in adolescent care and medicine – One doctor we spoke to asked:
“Who wants to transition to someone who’s never seen a case of your very rare condition before?”

15. KEY FINDINGS
Research studies are not compatible with the transition process
Parents feel anxious and unsupported during transition
A patient’s individual circumstances are not always considered during transition
Transition is better for those affected by common conditions
We found that:
Parents feel anxious and unsupported during transition process – because they too are transitioning
Unsurprisingly: Transition is better for those affected by common conditions this was apparent especially to families who were affected by a number of conditions. They could see that the tranisiton for their rare disease wasn’t as smooth as say the transition for Autism.
Our findings show that the NHS is capable of providing a world-class service to families affected by rare conditions, and that many patients are happy with the support they receive. The clinicians we spoke to are not just pioneers in the UK but also the world. Unfortunately, this high quality care is not universal to all patients with rare conditions going through transition within the NHS.
The provision of well coordinated, age appropriate services for young people entering adulthood is the exception, rather than the rule. As a result individuals, families and too often, professionals too, are struggling to cope.
Our findings are just the tip of an iceberg; there is much more that still remains to be to be discovered, understood and acted upon.

16. NEXT STEPS
Rare Disease UK currently undertaking further investigations on transition.
All Party Parliamentary Group (APPG) launching an inquiry into the implementation of the UK Strategy for Rare Diseases.
Patient Empowerment Group will continue to push for the implementation of UK Strategy.

17. GET INVOLVED Join Rare Disease UK – it’s free!
Submit evidence to APPG inquiry.
Contact your local MP ask them to join the APPG.

18. Farhana Ali
Public Affairs Officer