Scottish Government

APPENDIX 6: RELATIONSHIPS BETWEEN GENETICS SERVICES AND THE SCOTTISH HUNTINGTON'S ASSOCIATION

1. Introduction

This briefing paper has been prepared by John Eden from Scottish Huntington's Association as part of the current consultation on the development of genetic services in Scotland. Providing an example of the role that voluntary organisations play in the delivery of integrated health and social care, the paper focuses on the work of the Scottish Huntington's Association and its role in working alongside genetic services across Scotland. Within this context, the paper will also analyse the current relationship between genetics services and voluntary agencies.

2. Who are the Scottish Huntington's Association?

Scottish Huntington's Association ( SHA) is a small, Scottish Charity that was established by families living with Huntington's disease ( HD) in the late 1980's. Experiencing directly the dearth of services available to them, the organisation pursued the goal of setting up specialist family support services and this ultimately blossomed into the development of an extensive network of Advisory services which more latterly includes specialist Palliative Care and Youth services. There are currently eight Advisory services located in Highland, Grampian, Angus, Dundee, Fife, Lothian, Glasgow and Ayrshire. There are also two Palliative Care services locate in Lanarkshire and Ayrshire as well as one national Palliative Care Training project. Finally a national Youth Advisory Service is based in Grampian.

In common with many other voluntary organisations, SHA also supports a network of family support groups which are run autonomously by family members, and which provide peer support, social opportunities, and access to information and advice. There are currently family branches located in Grampian, Tayside, Fife, Lothian, Lanarkshire, Glasgow and Ayrshire.

The main aims of the SHA are:

• To promote through information and education, greater public and professional understanding of the complex issues associated with Huntington's Disease - in particular on issues relevant to Health, Welfare and Social Justice
• To maintain, develop and support a range of Specialist Information and Advisory Services for individuals and families living with Huntington's Disease throughout Scotland
• To provide specialist assessment and information relevant to the management of Huntington's Disease
• To support and encourage the establishment of SHA Branches and Support Groups throughout Scotland by encouraging empowerment of individuals and families
• To develop effective links with Health, Social and other Statutory and Voluntary agencies involved in the care of Huntington's Disease, providing advice, information and campaigning to improve the level and standard of care for those affected by HD
• To promote and support relevant research in relation to the scientific, medical and social aspects of Huntington's Disease
• To promote non discrimination regardless of gender, race, language, religion, disability or background.

SHA is a vibrant modern charity, employing high standards of governance practices. Its Governing Board has a 50/50 composition of professional staff who have a specific interest in HD and family members and the Chairperson of the organisation is a family member.

SHA has focussed exclusively on developing services that are focussed on supporting people living with HD in their local community and it is the expertise the organisation has developed in this area which will enable it to have a significant role to play as Community Health Partnerships begin to unfold.

3. What is Huntington's disease?

Huntington's Disease ( HD) is a devastating, progressive neurological illness. A child who has a parent with the gene that causes the illness has a fifty-fifty chance of inheriting the disease. HD changes the way that people have control over their movements, causing constant uncontrollable movements, problems with balance and coordination, loss of speech and loss of the ability to swallow food and liquid safely. Over fifteen to twenty-five years, a person with Huntington's Disease will eventually become completely dependent on others for all their day to day needs, may be unable to walk, may require artificial feeding and may have lost the ability to communicate verbally.

Those are just the physical effects of the illness, but cruelly Huntington's Disease also causes problems with the person's ability to think and reason. Memory becomes impaired, as does concentration and skills that were once second nature become lost as the person's brain becomes unable to organise the small steps that every task we undertake requires. Often, quite quickly after symptoms begin, the person loses the ability to do their job and over time other roles; being a father or mother, the person who looks after the household finances are lost.

To compound these immense problems people with HD change. They are no longer the person they once were. They frequently become moody and irritable, withdrawn or angry and lose the ability to care about the feelings of those around them and for family it is this loss of the person which is the greatest tragedy the illness visits upon them. These changes in personality and behaviour are sometimes joined by mental ill health; depression, Schizophrenia, manic depression which further deepen the terrible impact of the disease.

4. The Advisory Services in detail

In order to understand the relationship between genetics services and the SHA it is useful here to explore in some detail the function of the SHA Advisory services.

There are five key areas of work with HD family members:

• Specialist assessment of need.
• Provision of information, advice and education
• Advocacy
• Emotional support and counselling
• Care planning and coordination

In addition there are three key areas of work with Professional staff:

• Training & Education
• Liaison and coordination
• Advice & consultation

A number of characteristics make the approach of the Advisory service unique. These include:

• A focus on working with families as opposed to working only with individuals, for example an Advisor may involve the Youth Advisor to provide information, advice or support to young people living in the family.
• Working across traditional boundaries, for example it is common for Advisors to work with people in their own homes and if the individual then moves on to nursing home care, the Advisor will continue to provide support to the person with HD and their family and will likely deliver training, information and advice to the nursing home staff. The same is true when someone with HD has an acute hospital admission. Advisors can provide vital liaison between community and acute settings. While Advisors cannot overcome all of the barriers, this approach strongly promotes the integration of care.
• Enhancing this approach, Advisors operate using a combined health and social care approach. An Advisor can address symptom management issues, for example, managing the motor disorder or giving advice about nutrition and diet. Equally she can address the social needs of the client or assess and plan home care services. Obviously much of the work is done in concert with other professions, but clients benefit greatly from having the full range of their needs addressed.
• Advisors provide an invaluable care coordination service. They are in the best position to do this because they understand the natural history of the disease and have greater experience of the complex and diverse symptoms and issues that arise for individuals and families living with HD than non-specialised staff.
• This is a client group with poor self-advocacy who can and do fall easily through the gaps in services. This is particularly true in the early stages of the disease when the need for medical intervention may be negligible and the person does not require support from social services. Nevertheless morbidity may still be significant; depression, anxiety, relationship difficulties. The Advisory service can act as a safety net which prevents this from happening and is more likely to recognise the person with HD or their families need for support.
• People with Huntington's disease frequently have difficulty accessing services. This is often because of physical disability, problems with communication or cognitive and behavioural changes. Advisors play a crucial role in enabling their clients to access local resources and remain active members of their communities.
• Advisors work with people with HD and their families with the goal of empowering them to manage their symptoms and enjoy the maximum quality of life possible within each individual's circumstances.
• Advisors can work with clients at any point in their condition, for example, before they undergo genetic testing or during the testing process or when the person with HD begins to have symptoms or reaches the end of their life. Advisors often work with clients over many years forming very supportive and trusting relationships. The importance of this cannot be overstated because many people with HD have extreme difficulty coping with change, find it difficult to form or sustain relationships because of mental health issues and require high levels of consistency.
• The long duration of this disease (15-25 years after symptoms begin) means that clients benefit from a known, trusted and consistent point of contact for help and support.
• The ability to work with people over time also means that Advisors can take a highly proactive approach to the care of people with HD. This may mean helping the person to plan ahead in terms of what treatment they want in the future. It may mean anticipating or reassessing changing needs and planning alterations to care packages so that the person is well supported. This is a crucial strategy in reducing the incidence of crisis.
• Importantly, when the correct care is provided in the community, admission to hospital as a result of poor symptom management can be avoided.
• It is part of the remit of the Advisors to provide training, education and advice to other professional staff. This is an effective way of improving the quality of care provided to individuals and families living with Huntington's disease. A good example of this is demonstrated in the following example. "The Advisory service is working with a man who has behaviour changes as a result of his illness. He is reported by the staff as being difficult, irritable, moody, rigid and demanding. The Advisor discovers by talking to the client that his perspective is that some of the staff are rude, or snappy towards him. The Advisor provides an afternoon training session at which it becomes clear that a few of the staff have very negative attitudes towards the client and have not grasped the complexities around his behaviour. The Advisor explains the underlying disease process and provides advice on how to respond appropriately to the client. A week later, the Advisor visits the client who remarks that all the staff are being much nicer to him."
• Perhaps the most valuable aspect of the training and education provided by the Advisory service is that it is available at the point of need. Few professional staff have the opportunity to work with people with Huntington's disease and Advisors are an invaluable source of information and advice.

Clearly the SHA Advisory services have an enormous amount to contribute to the support of people living with Huntington's disease and within the context of the development of Community Health Partnerships they have a significant role to play.

5. Emerging themes in Health and Social Care

While the writer does not intend to undertake a review of the current development in Health and Social Care, it is useful here to summarise the main themes that have been emerging from the Kerr report and the White Paper 'Partnership for Care'.

• The shift away from acute hospital care to care in the local community.
• The growing priority for keeping people at home and preventing inappropriate hospital admission.
• The growing emphasis on the need to effectively manage long-term health conditions rather than have episodic acute admissions to hospital.
• The need for far higher levels of integration between health and social care and between primary and acute care.
• The importance of care management and care coordination in providing seamless care.
• The central need for effective multi disciplinary working.
• The importance of partnerships between statutory, private and voluntary providers of services.
• A growing recognition of the role that voluntary organisations have as service providers.
• The importance of empowering people to manage their own health.
• The importance of attending to the needs of carers.
• The development of Managed Care Networks ( MCN) and the need for evidence based practice and well developed care pathways.

It is clear that the SHA Advisory services and the way in which they currently work have a great deal to offer in terms the Community Health Partnership ( CHP) Agenda.

• The Advisory service model is strongly geared towards the proactive management of Huntington's disease in community settings. There is a strong organisational ethos around supporting people with the disease to live at home for as long as possible. Advisory services work proactively across a wide range of health and social issues, reducing the instance of crisis and hospital admission.
• The SHA has recognised the value of a palliative care approach to meeting the needs of people with Huntington's disease. This is not just about caring for people as they approach the end of their lives, but applying the principles of maximising quality of life, managing symptoms effectively, providing high quality information and promoting choice and normalised living throughout the duration of the disease.
• Care coordination provided by Advisors is a critical element of providing an effective service to people living with HD. This is a complex disorder with significant co-morbidity and as the disease progresses, clients require increasing support from a wide variety of services; psychiatry, social work, home care, day care, respite, Speech and Language Therapy. It is not uncommon for people with HD to have between ten and fifteen different agencies providing support. This is frequently daunting for individuals and families and there is an obviously high risk of duplication of work, overlap of roles, poor communication, and conflicting opinion about care management. The care coordination role undertaken by Advisors is crucial in these circumstances.
• The CHP agenda provides a superb opportunity to build on the care coordination role of the Advisor. Clearly, even with committed and skilled work by the Advisors, the systemic difficulties that are inherent to the current, very sectionalised, model of service delivery are challenging to overcome. Managed Care Networks are providing an effective way of driving up the quality of care, improving the client's experience of their journey through the system and improving joint working across agencies. Currently there is no MCN for Huntington's disease anywhere in Scotland, but it seems obvious that there is huge potential within this model to improve services for people with HD. The SHA can offer a great deal to this approach. It provides a natural focus for the consultation and participation of families living with the disease, in the MCN. MCN's require a strong evidence base in order to work effectively and in this unique area of practice, the evidence for practice is only just beginning to develop. The SHA is already part of several international networks; European Huntington's disease Network, International Huntington's Association. An enormous amount of work is being undertaken around the management of symptoms, pharmaceutical treatments for the underlying disease process, standards of care and many other areas of study. The SHA is perfectly positioned to funnel the information into an MCN. It already has a huge amount to offer from the collective experience of the staff and clinicians who are currently involved in the management of HD. It is not an overstatement that much of the expertise in supporting people with HD and their families resides within the voluntary sector.
• Development of an MCN would also remedy a key difficulty in undertaking multi-disciplinary work, which is that there is frequently no natural leader (because HD sits across physical disability and mental health) with responsibility for driving forward services.
• Despite the fact that the SHA has a great deal to offer, it is clear that the only way to provide effective care is by building a sound multi-agency approach.
• The SHA Advisors provide accurate, up-to-date and appropriate information for family members of all ages and circumstances and they advise people about the best ways to manage their condition and remain as well as possible. A range of literature is available and an informative web site provides easy access to downloadable material. Currently the most effective ways of keeping well are to ensure that the person with HD eats a nutritional diet, takes plenty of exercise, minimises stress, maintains as normal a life as possible and gets plenty of mental stimulation. This kind of advice and support is valuable in terms of empowering people with HD to take control of their lives and look after their own health. There is a strong argument for further developing this approach towards the expert patient model and this has happened on a small scale in Glasgow. This model is most effective in the earlier stages of the disease before cognitive impairment and motivational problems reduce the person's ability to self-manage their condition. Nevertheless, this approach has a great deal to commend it, particularly since this is the best time for the person with HD and their family to begin to plan ahead for the changes that will take place in their lives. Additionally, learning how to access services, how to get the best from the professional staff and learning what to expect and what rights individuals have are valuable tools for the future. The SHA is well placed to continue and develop this work.
• The Advocacy service offered by the SHA Advisors is important in ensuring that the views of people living with HD and their families are communicated effectively and that concerns about service provision are properly addressed.
• SHA Advisors focus on the needs of carers and the organisation has a specific carer assessment tool. In Grampian a new HD carer support service has commenced and it will be looking at the impact of HD on the quality of life for carers as well as exploring more effective ways of providing support to them.
• The SHA's network of Family Support groups provide an opportunity for people living with HD and their families to have contact with other people facing similar challenges. Many people with HD report that it is the contact with other people with HD rather than professional staff from which they gain reassurance, comfort, experience and hope.
• The Advisory service model, because it is based around seeing the person in their own home is also an effective way of addressing the needs of people living in rural settings.

6. The relationship between Genetic services and the SHA

In the widest sense it is clear that the SHA has a great deal to offer as a member of Community Health Partnerships. Focussing specifically on the relationship between Genetics and the SHA there is plenty of evidence of the benefit of existing links and the potential to develop these in the future.

• Several SHA Advisory services are currently co-located with Genetics teams. These include the Lothian Advisory Service which has a base at the Western General Hospital, The Tayside Advisory Service, based in the Department of genetics in Ninewells hospital. This underscores that there is a natural link between Genetics services and the work of the SHA.
• In several areas of Scotland, Genetics consultants have become the de facto clinical experts on the management of the disease and in several instances have developed management clinics to meet the needs of people living with HD. There are good examples of this in Aberdeen, Dundee and Lothian.
• Where this has occurred, natural links between SHA Advisory services and Geneticists have evolved. As indicated elsewhere in this report a key issue in effectively managing local services is that there is often no natural leader for services for people with HD. Client's benefit significantly therefore where a local partnership between SHA staff and NHS clinicians exist. They frequently have access to more appropriate medical care as well as benefiting from the wide range of support offered by the SHA Advisors and overall, care is usually much better coordinated.
• There are two good examples of how beneficial this relationship can be. In Grampian the partnership between the Consultant Geneticist and the SHA Advisor has directly led to the development of several specialist resources; a nursing home providing both long term care and respite, and a specialist housing support service. In addition to other existing resources and a number of committed professional staff with an interest in HD, there now exists a well integrated network of health and social services for people with HD in Scotland. In Lothian a similar partnership has led to the development of a neuro-psychiatry clinic which is proving invaluable meeting the needs of people who have HD and who also have complex psychiatric and cognitive impairment.

Beyond the management of people who have symptoms of HD, there is further evidence of the importance of the relationship between the two agencies.

• SHA Advisors often act as an alternative route to information about testing. For example, General Practitioners may contact Advisors for information about the testing process.
• One of the commonest enquiries received by the SHA is from family members who are at risk and want to talk to someone about the testing process. SHA Advisors can and do advise about testing, it's implications, the nature of the disease and they can and do provide emotional support to people considering having the test. This role is complementary to the role of the Genetics service who will guide people through the testing protocol. It is invaluable for clients to have access to this alternative route for information. For some, approaching the Genetic service directly is a step too close towards undergoing the genetic test and being able to access a lay organisation can feel less threatening.
• Notwithstanding the fact that most genetic counselling across Scotland is undertaken by the regional genetic centres, Advisors, working closely with Consultant Geneticists have been involved in giving results. This is particularly the case in Highlands where because of the highly rural nature of the region it has been impractical for families to travel to the nearest regional genetic centre whereas the local Advisor is able to meet the client in his General Practitioner's surgery much more easily.
• The SHA can and does play an important role in instances when the relationship between an individual and a Genetics team breaks down. This happens rarely and usually where there are exceptional stresses on the individual or family such that they are exceptionally distressed by the testing process. In such instances, it is extremely important to the care and support of that individual that the genetics team have an alternative route for referral and this is a role that the SHA Advisory services can play. The SHA's status as a lay organisation can sometimes open doors that are closed to others.
• There are a number of key events in the natural history of HD where genetics services and SHA Advisors can work together to provide effective support. Clients who attend genetic centres for diagnostic testing are a good example of this. In some instances, particularly where there is a family history of HD an individual who develops symptoms of the disease may elect to have diagnostic testing. Receipt of a positive test, even when the disease is suspected by the individual, is devastating and it is crucial that genetics teams can refer on to appropriate support services. If genetics teams have the expertise in guiding individuals through the testing process, then SHA Advisors undoubtedly have the expertise in helping families deal with the implications of a positive test result. If the disease is at an early stage, the person with HD may need support in relation to employment issues, finances, housing and a host of other issues. Relationships may need additional support and of course the person's partner, their children (or grandchildren) will have their own concerns and need for support. What is also beneficial is that the support provided by the SHA can happen at the pace of the client.
• Receipt of a negative test result can also lead to significant morbidity; depression, guilt, stress, anxiety. The emotional support provided by SHA Advisors can be invaluable in ameliorating these difficulties.
• SHA produces a range of literature for individuals and families living with Huntington's disease. This includes specific information about undergoing the genetic test.

Clearly there is already a significant relationship between the work of the Scottish Huntington's Association and Genetic services and there is already a great deal of successful joint work taking place in many parts of Scotland, however it is undoubtedly the case that where there are existing relationships between SHA and Genetic services, these could be developed further. There are also a number of areas in Scotland, where SHA has so far been unable to penetrate the local planning systems and where no Advisory service exists; Argyll & Clyde, Forth Valley and the Borders are three key areas.

Despite the positive outcomes of the partnership between genetic services and the SHA, there is no doubt that in many areas of Scotland the SHA remains under resourced and this is one of the most significant barriers to overcome in building quality services for the HD client group.

7. Possible ways forward

The writer considers that the evidence presented in this short report makes it abundantly clear that there are significant benefits to joint working between the SHA and Genetics Centres around Scotland. Just as importantly, as CHP's begin to develop it is clear that the SHA has a significant role to play in local networks in terms of meeting the needs of individuals and families living with Huntington's disease.

The following are possible ways forward for CHP's to deliver services to the HD client group. It is perhaps worth considering that the work undertaken by the SHA and the ideas presented in this report are potentially a template for delivering services to people with other genetic condition. It is the view of the writer that CHP's could also consider grouping more than one condition within a single Managed Care Network. This is likely to be a more effective use of resources.

• CHP's should recognise that HD is a long duration degenerative disease with profound consequences for the individuals and families affected by it. As a result, there is a high likelihood that the client group will have high levels of need in relation to primary and acute services. They are also a group of people who are very vulnerable in terms of acute hospital admission because of the complex co-morbidity associated with the disease.
• A minimum set of services should be set out as guidance for CHP's and the Scottish Executive could consider establishing a monitoring group to review and advise CHP's about good practice.
• CHP's should consider purchasing services from the SHA and where possible co-locating them with Genetic teams. These services should provide a full range of support, information and care coordination.
• CHP's should consider developing MCN's for the HD client group. This would help address one of the most common local difficulties which is the problem of identifying a key senior clinician who has responsibility for driving forward services for people with Huntington's disease. It would also provide an effective multi-agency team that would have as it's focus, the proactive management of the disease, ensuring that most of the care is provided in the community and the incidence of avoidable admission to hospital minimised.
• CHP should explore partnering with private and voluntary sector agencies to commission and develop better community based resources that can provide quality respite care and long term care for this client group.
• Each CHP should consider giving a lead role to a key member for the development of services.
• CHP's should consider including voluntary organisations in their single shared assessment policies and much greater consideration should be given to utilising the experience and knowledge of the SHA in relation to care coordination in a more recognised way.

8. Conclusion

The partnership between Genetic services and the SHA has proven to be a potent one that has yielded considerable benefits for individuals and families living with Huntington's disease. It is the opinion of the writer that further investment by CHP's is required in order to ensure that this partnership can continue and evolve. There are significant issues around the inequality of services across Scotland and there is a real need to set a minimum standard of service to which all CHP's should aspire.

The model of joint working outlined in this report could be adopted for other genetic conditions, where many of the issues faced by families, are very similar and where there is therefore considerable overlap in terms of the services that are required to effectively meet their needs.

CHP's could have a profound influence on developing local services for individuals and families living with Huntington's disease, but commitment and energy is required to ensure that an integrated service is provided to meet the complex needs of the HD client group. Where there are existing networks and partnerships, especially between Genetic Services and the SHA, these should be developed further.