It's Not Rare to Have a Rare Disease

4. EMPOWERING THOSE AFFECTED BY RARE DISEASES

UK Strategy Commitments

1. Strengthen the mechanisms and opportunities for meaningful and sustained patient involvement in rare disease service provision and research, recognising patient groups as key partners - including in the development of the four country plans to implement the Strategy.

2. Improve awareness amongst service providers and others of the effects that rare diseases can have on a person's education, family, social relationships and ability to work.

3. Encourage effective and timely liaison between the NHS and other public service providers, and encourage providers to consider the effects of rare diseases on people's lives when they are developing and managing services.

4. Make sure that patients and their families have a say in decisions about treatment and in the planning, evaluation and monitoring of services

5. Consider how to give all patients with rare disease clear and timely information about: their condition and its development; treatment and therapy options; practical support.

6. Improve access for patients (or where appropriate their parents or guardians) to their personal data.

7. Support patients to register on databases, where these exist.

8. Help patients to contribute to research and other activity related to rare diseases.

Where we are now

The Scottish Government is committed to supporting person-centred care at all stages of the patient journey and patient and public involvement in the development of healthcare services to help deliver better outcomes.

Through the Patient Rights (Scotland) Act 2011^[21] and our work to develop more person-centred health and care services we are giving people more voice on their experiences to drive quality improvement in health, to promote personal responsibility for health and wellbeing and to support self-management. This will include providing support to people to help them navigate and understand the health and social care systems, so that they become more involved and engaged in their healthcare design and delivery of services. This should help people in maintaining their health and in managing periods of ill-health. There are various legislative, policy and structural arrangements which support these approaches.

Since 2012, the Act has given patients the right that the healthcare they receive:

• considers their needs;
• considers what would be of optimum benefit to them; and,
• encourages them to participate in decisions about their health and provides information and support for them to do so.

The Patient Rights (Scotland) Act 2011 also established and provided access for patients and members of the public to the independent Patient Advice and Support Service (PASS) which provides information and helps raise awareness and understanding of their rights and responsibilities when using health services. PASS also helps and supports patients to give feedback about their healthcare and directs them to other types of support, such as advocacy or communication support services.

The NHS Reform (Scotland) Act 2004^[22] places a duty on all NHS Boards to involve the public (patients, carers or members of the public from a range of perspectives) in the planning and design of health care services and policies. This applies to all patients of all ages, including those with rare diseases.

In addition, the Charter for Patients' Rights and Responsibilities published in October 2012^[23] states that:

• [patients] "…have the right to be involved, directly or through representatives in the planning, design and provision of services…"
• "Health Boards must involve people who live in their Board area in the planning and development of services, and in decisions that significantly affect the operation of those services."

The Scottish Health Council promotes public involvement in the NHS in Scotland ensuring that NHS Boards listen to and take account of people's views and work in partnership with patients, carers and the public. The Scottish Health Council's local offices in each of the NHS Board areas link closely with local, regional and national Managed Clinical Networks to promote public involvement in the NHS in Scotland.

The Scottish Health Council provides support to strengthen engagement mechanisms, promotes awareness amongst service providers of the importance of public engagement, encourages liaison between the NHS and local communities and supports patients and the public in having a say in the planning, evaluation and monitoring of services. This work is supported by Participation and Evaluation Toolkits.

Third sector organisations also have an important role to play in supporting patient empowerment and in facilitating peer support.

Developments in Patient Empowerment

Across a range of health conditions there are a variety of excellent models for patient involvement and information provision which could be extended across rare diseases.

Managed Clinical Networks are key to facilitating and supporting patient involvement in decisions. In some areas, patient representation comes from the third sector, for example in the Scottish Cancer Coalition and the Respiratory National Advisory Group.

The Neurological Alliance of Scotland involves patient representatives in a 'Neurological Voices Programme'. This is run in partnership with NHS Boards. It supports people with neurological conditions and their carers to get involved in planning and improving neurological health services, with a focus on the relevant NHS Scotland Clinical Standards.

In diabetes services, the chair of an active patient subgroup is also on the national Diabetes MCN steering group.

In designated national specialist services patients are involved in annual performance reviews of specialist services and in the regular 3-5 year planning reviews. The Scottish Genetics Education Network has a wide range of information leaflets and support information on rare conditions of genetic origin.

The Person-Centred Health and Care Collaborative^[24] is a key part of a Scotland-wide programme of work aimed at improving health and care services to focus on people, their families and carers. The collaborative aims to bring together people from every NHS Board to listen to the experiences of people who use services and to use their feedback to drive improvement and make care more person-centred.

NHS Boards already have structures in place to support the involvement of the people and communities they serve. Currently public partnership fora exist within each NHS Board. With the replacement of Community Health Partnerships by Health and Social Care Partnerships, the future role of Patient Public Forums is being considered, to ensure they continue to discharge their important role in encouraging patient groups to engage with the new bodies.

There are many good examples of patient involvement in the development of NHS services that can be built on. For example NSD's Professional, Public & Patient Reference Group (NPPPRG) which advises on commissioning of highly specialist services for rare diseases and complex conditions has an individual patient member as well as involvement from Genetic Alliance UK.

The Alliance', as Scotland's third sector umbrella organisation, represents the views of its members when collaborating with NHS Scotland and Scottish Government.

Capturing Patient Views

Completely independent of government and the NHS, the Patient Opinion website is where patients, their carers or family members can tell other people about their experiences of the NHS. NHS Boards are alerted to stories posted about services in their area and are encouraged by the Scottish Government to post responses saying what they have done in light of what patients have said. It aims to make it easier for people to give feedback and for NHS Boards to get those opinions to the people who need to see them and ultimately, to make services better.

This can be done online at www.patientopinion.org.uk or by telephone on: 0800 122 31 35.

Scotland's four NHS Clinical Genetic Centres aim to help develop innovative, seamless services and to integrate patient and public views into service development and care guidelines. The Single Gene Complex Needs^[25] (SGCN) service was established following the recommendations of the 'Review of Genetics in Relation to Healthcare in Scotland'^[26]. The review recognised the crucial role that genetic services had in the diagnosis, assessment and treatment of individuals living with complex needs. The review also acknowledged that these patients and their families often had much broader complex health and social care needs.

Support in Genetics

The Single Gene Complex Needs service (SGCN) works primarily with adults living with rare diseases of single gene origin throughout Scotland, supporting individuals and their families to manage their care needs in their local communities.

SGCN works mutually with a wide range of partners from the third, health and social care sectors, to design, develop and deliver anticipatory services to improve outcomes for people living with single gene disorders. The service also acts as a point of contact between the health service, social services, the third sector, education and employers.

Patients who have been referred to the service have presented collectively with 112 different conditions of single gene/chromosomal origin as well as a small number of unspecified diagnoses.

The Key Information Summary (KIS) is in use across all GP practices in Scotland. It contains details of staff involved in a patient's care, main diagnosis and current issues, carer and support details and recommended actions for out of hours services

The Patient and Public Involvement Group of the Scottish Medicines Consortium (SMC) is reviewing its activities and work plan in response to the Scottish Government's requirements following the Access to New Medicines Review.

Updated guidance issued in July 2012^[27], recognises that Managed Clinical Networks (MCNs) have a strong foundation of working effectively with the third sector.

Criteria for National Managed Clinical Networks include requirements to involve service users in their work, to capture service users' views and to have policies to improve access to services and information dissemination (figure 3).

Patient Access to Information

NHS inform is Scotland's national health information service. This web and telephony based service provides quality assured information on a wide range of health and care related topics including information on over 800 medical conditions.

ALISS (A Local Information System for Scotland) is a search and collaboration tool for health and wellbeing in Scotland, helping signpost people to useful community support.

'Renal Patient View' and 'My Diabetes My Way' patient portals provide examples of how to provide more personalised support and information to patients with specific conditions.

Advances in technology and social networking provide opportunities for widening channels for information exchange i.e. Facebook, twitter, blogs and patient forums all provide useful platforms for information and peer support.

Figure 3 Information and Communication Support to Patients

Suggested Next Steps Emerging from Discussion/Engagement with Stakeholders

Patient Involvement

We will improve rare disease patient involvement and engage with rare disease service users at all stages in service planning, delivery and evaluation through:

• The creation of opportunities for patients with a rare disease to participate in decisions about all aspects of their care, support and treatment
• The use of existing NHS Board patient and public involvement structures and the Health and Social Care Partnerships arrangements as these develop
• Consideration of how the Person-Centred Health and Care Collaborative can best take into account the needs of people with rare diseases
• Publicising the Patient Opinion website and utilising SMS, social media, 'apps' and other communication technologies to provide patients with rare disease and families with opportunities to feedback on their experience of services.

Patient Records and Registers

• We will explore with relevant agencies the applicability/practicability of registers and the opportunities to develop a patient electronic health record.

Information for Patients

We will improve information provision to patients with rare disease through:

• Opportunities arising from the Person-centred e-Health Strategy and Delivery Plan
• Consideration of the development of current NHS Inform resources to provide access for people with rare diseases and their families to clear information on relevant conditions in a range of accessible formats, including links to third sector information resources
• Staff in appropriate roles seeking to signpost individuals with rare disease to further information on research and clinical trials and opportunities to participate.

Information for Staff

Staff will be supported to obtain quality information on rare diseases through:

• Consideration by NHS Education Scotland of what information, training and resources on rare diseases may be deliverable to staff, for example via the NES Knowledge Network.