While Huntington’s Disease (HD) remains a condition which is not widely recognised, its symptoms are most easily distinguished by their physical manifestation. Its cognitive impact is much less obvious and symptoms can be very subtle, particularly in the early stages.

Behavioural problems, functional challenges and difficulties in continuing with basic daily tasks can all be distressing for the person involved, and also for their families and loved ones in understanding how to support them.

#MindfulOfHuntingtons is the theme of this year’s Huntington’s Awareness campaign, with emphasis placed on the need for better recognition of cognitive symptoms, and greater understanding of the impact of these symptoms on the lives of individuals and families.

Here, consultant psychiatrist Dr Nadeem Mazi-Kotwal and forensic and clinical psychologist Dr Vincent Harding, both HD specialists at St Andrew’s Healthcare, discuss the challenges HD presents and ways in which effective support can be offered.

As a neurodegenerative condition, HD has both a physical and mental impact on people which will worsen over time. But it remains the physical symptoms that are most recognisable, and its cognitive manifestation can be much less expected.

“It’s an illness that creeps up, in many ways,” says Dr Nadeem Mazi-Kotwal.

“The diagnosis of the illness as HD is made when the person starts showing the motor symptoms - but there are changes happening in the person’s personality, thinking and cognitive processes much before that.

“Subtle changes in personality, changes in the quality of life and the way the person makes sense of the information that is reaching the brain, can all have great impact on the life of that person and the life of their family.”

“It can be very difficult, and there is limited specialist provision for people with HD,” says Dr Vincent Harding.

“Awareness can be low, even among healthcare professionals, so there can be many challenges for the person and their family in accessing the specialist, multi-disciplinary support they need.

“And in terms of the cognitive symptoms, they can be even more difficult to recognise, and potentially do go unnoticed for longer. This can have a significant impact on that person’s quality of life.”

The cognitive impact

HD is a relatively rare condition, with an estimated 8,000 people in the UK living with the disease - caused by a ‘faulty’ gene and passed through generations of families - and for many people, little is known about it.

However, while the physical symptoms - movement and motor problems - are generally easier to spot, the psychological impact can begin to take hold from a very early stage and affect a person’s life in many ways.

The ability to work, maintain a social life and continue with basic everyday tasks can all be jeopardised by the cognitive decline resulting from HD.

As well as the depression and significant mental health decline that can be associated with HD, the impact can be wide-ranging and, particularly in the early stages, often very subtle, says Dr Mazi-Kotwal.

“We see the person’s ability to process information progressively worsen. A person who may have been capable of doing something in the past may take substantially longer periods of time to do the same thing. This has a huge impact on their ability to complete day-to-day tasks,” he says.

“We also see effects on a person’s energy drive and motivation levels. People lose interest, and this is not because of clinical depression or any other mental illness, it is the inner ability to motivate oneself and be aware of the reward at the end of a particular activity. That reward and driving mechanism is compromised as a result of HD.

“Our behaviour is very much modulated by the frontal lobe, which enables us to behave in a way that is socially and culturally appropriate, but that is gradually lost in HD. Behaviour may become more disinhibited, people may do things impulsively, without thinking through the consequences.

“And if you put all of this together, what you see is a change in personality and thinking, problem solving, and generally, changes in the ability of the person to function as they did previously.”

And those cognitive changes become more pronounced over time, says Dr Harding.

“The cognitive symptoms tend to progress as HD advances, which can contribute to impaired ability to work and perform activities of daily living. That has an impact on the person, but also on those supporting them,” he says.

“A problem we see is that there is still limited recognition of HD, and an ongoing need to raise the profile and awareness of all symptoms, including and perhaps particularly the cognitive symptoms.”

Risk of misdiagnosis

With a limited awareness of HD, where the condition has not yet been formally diagnosed, there is a risk of cognitive symptoms being attributed to another condition.

“We often see patients with HD being misdiagnosed with all types of different things. We have seen cases where patients have been diagnosed with emotionally unstable personality disorders, or different types of personality disorders, when in fact, it is the changes due to HD driving this,” says Dr Mazi-Kotwal.

“People with HD are at higher risk of developing all mental health disorders, from anxiety to full blown psychosis, and the proportion of people with HD developing a mental health issue is substantially higher than amongst the general population.

“HD may co-exist, but whilst the mental health symptoms may be treated, it is also the underlying illness which needs to be addressed and treated.”

As well as restricting a person’s access to the support that they need, misdiagnosis can also have profound longer-term consequences.

“In the short term, treatments are often directed towards the problem symptoms. So if there are sleep problems or aggression, there may be therapies and treatments modulated for that in terms of medication or anger management - but without the awareness that this is fuelled by HD, the effectiveness of these is questionable,” says Dr Mazi-Kotwal.

“By not recognising HD and the mechanisms required to support health, input that could be available from professionals or organisations like the Huntington’s Disease Association is often delayed which can be detrimental mentally and physically for the person with HD.

“With HD, the priority is to know about the illness as quickly as possible, to plan the future, make decisions about advanced care planning and the care and support that a person wants, whether they would want to be resuscitated, and so on. The earlier we do this, the greater chance the person has to think about this and make decisions while they have the capacity to do so.

“If a diagnosis is delayed, we risk missing the critical time for a person to be able to consider all the options and in a way deprive the person of making decisions for their future care.”

Dr Harding believes awareness plays a key role in this, which is a vital part of the #MindfulOfHuntingtons campaign.

“The general public and even healthcare professionals are not fully aware of this condition and how it manifests and there is a need to raise awareness, particularly among health professionals.” he says.

Dr Mazi-Kotwal also believes recognition among people with HD themselves of their symptoms can be crucial.

“A major barrier we sometimes face is with the person who is experiencing these symptoms and it can be difficult for them to acknowledging that there is an issue that they need help with,” he says.

“This can be quite surprising, especially as some of our patients are almost Wikipedias of the illness, they can tell you everything about it - but they really struggle to see how it is affecting them personally.

“Greater awareness of the symptoms and the cognitive impact people can expect to face is also a part of this, so they recognise that this is a way in which HD is affecting them.”

Family involvement and co-production

For families, HD can be something they are aware is genetic and therefore may know or suspect their loved one has the condition. For others, it can be a devastating reality to discover through a diagnosis.

But in any event, the manifestation of symptoms and changes in their loved one can be very hard to cope with.

“This can be a very difficult time for whole families, seeing the way the person is changing and how they are now functioning differently,” says Dr Harding. Dr Mazi-Kotwal continues:

“It can cause concern with family members who see their loved one now not interested or not willing to able to complete tasks they previously could.

“Also, the changes in personality and the way a person reacts to family members can be quite different to their previous demeanour. Families know this person has HD, but interactions can be very personal, comments can be quite hurtful.

“It is of course the HD modulating rather than the innate wish of the person to behave that way - but that can be difficult for a family to understand.”

For St Andrew’s Healthcare, families and friends are a priority in the care they contribute to with their relative or friend living with HD.

Mindful of the impact this has on them too, the team always seek to involve families as friends as equal ‘partners in care’ from the earliest opportunity, both for the best possible delivery of care for the patient, as well as enabling families and friends to find appropriate support themselves.

“We work closely alongside families and friends and the patient, and use the triangle of care approach,” says Dr Harding.

“It’s a biopsychosocial approach, where we see the whole person - seeing everything that makes that person, from the changes in the brain, their health, their background, personality, their social circle, family, and appreciating the importance of all of those things, all in conjunction with each other.

“Co-production is something that is very important to the way we work. We develop a robust care plan that a person has been fully part of, they’ve co-produced it with us, and we will always seek family involvement where they are involved.

“We want to be able to anticipate a person’s needs and wants in advance and to meet them as quickly as possible, so as soon as somebody comes to us, we’re reaching out to their families and friends and, where the patient consents, we’ll send out a comprehensive assessment form to help inform our care plans and conversations with that person.”

Family involvement is crucial to the work of the team in delivering the person-centred care that is central to the St Andrew’s approach, and this is reflected in the hospital’s support and pledge to John’s Campaign, which promotes the value of family and friends being actively involved in a person’s care.

“The information we gather is the foundation on which we base our interventions, and it informs our neuropsychological formulation to address the difficulties that a person is presenting with when they first come to us,” says Dr Mazi-Kotwal.

“The interventions we plan as a result of this information from family and friends also help us to deliver our therapeutic programme.

“It makes a big difference having this as a starting point and knowing we can provide truly personalised care which is in tune with what the person’s preferences are or would have been. Providing care is much easier this way, as compared to a person who does not have the input from friends and family who can inform and contribute to their care.”

Dr Harding has led research at St Andrew’s which gathered the experiences of healthcare assistants and registered nurses working with people with HD, to help inform future care and make their approach even more centred around co-production.

“It really is about us working with families and friends as equal partners in care,” says Dr Harding.

“It’s about respecting the knowledge they bring to the situation, and what they know about that person which could help improve experiences and outcomes for everybody involved.”

Clarity, certainty and structure

For someone living with HD, the realisation that basic daily routines are slipping, tasks they could previously carry out independently are becoming more difficult, and the likelihood of them needing support is increasing, is a very difficult reality to face.

But while symptoms are unique to each individual, and the speed and severity with which the onset comes differs vastly, living well with HD is absolutely possible and achievable - and the potential to do so becomes more likely by putting structures in place as early as possible.

“It’s about us being clear, concise and concrete in the interactions we have with people,” says Dr Harding.

“We need to provide some form of clear structure, but we need to allow for flexibility as well. It’s about understanding the individual as a person before the condition, but equally making sense of the changes we see through the lens of HD and being able to adapt to changing needs with that person.

“We need to develop a clear care plan with sets of shared expectations, which allow for choice but equally give the structure and support they need. Because as HD progresses, we see a person who is much less able to plan, problem solve, reason and structure their day independently. So they’ll often become more reliant on those around them to support with those things.”

“There is a saying we use - ‘If you have seen one person with HD, then you have seen one person with HD’,” says Dr Mazi-Kotwal.

“Every case is very different, it is so unique in the way it presents. But, generally speaking, people who do well in managing their symptoms and the decline of functional abilities appear to be those who have built up a routine before the onset of HD symptoms.

“Well-established routines of exercising, breakfast, meal times, bedtimes, help people to maintain consistency in their day when the ability to plan and logically problem solve is declining.

“Some of the work we do is around education and relaying the importance of building up these routines, and equally building on existing routines and attaching other activities to that. That can often help, to add something to what a person is already doing, rather than to re-start completely.”

Patience is also a vital tool in being able to effectively support a patient.

“The idea of being able to hurry up and wait, a phrase that Jimmy Pollard uses, is important,” says Dr Harding.

“We need to be able to hurry up in terms of meeting people's needs and wants in a timely way. But equally, we need to be able to slow things down and put the brakes on when we're interacting with people; making sure that we are clear, concise and concrete in our communications, and that we give the person time to process and respond before we repeat or rephrase.

"The use of innovations, or assistive and smart technology, can also be vital in helping to preserve a person’s independence and enable them to carry out their routines.

“If you take memory as an example, recognition memory is often better than memory recall,” says Dr Harding.

“We can therefore keep information clear, concise, and concrete, with clear and consistent expectations and opportunities for consistent repetition to support learning. We might also be using verbal reminders, or written or pictorial cues, such as calendars, diaries, menus, timetables etcetera.

“To support attention and concentration, we would be reducing distractions in the environment wherever possible, breaking tasks down into smaller parts, keeping instructions short and specific, and giving the person adequate time to process and respond, ensuring that we don’t repeat or rephrase during this processing time.”

Dr Mazi-Kotwal continues:

“Similarly, adding in the technologies that are available to aid functioning and cognitive processes, such as pill dispensers, electronic diaries, smartphone reminders, specific apps and software that families can populate and add in alert mechanisms.

“Each individual has their own needs and may respond differently to different ways of supporting that, but between all of the options available, we can often find ways of improving functioning or reducing risk.”

The need for specialist care

St Andrew’s is one of only a handful of specialist care providers for HD patients nationally, meaning people from across the country are admitted to its Northampton site to be supported by its expert team.

While its resources and multi-disciplinary team ensure patients receive the optimum care and support in a timely and co-ordinated manner, sadly that is all too often not the case in the NHS or wider community.

Patients can often fall between the cracks of different departments or services, with the lack of awareness of HD also feeding in to the problems in referring to the best provider.

Research from the Huntington’s Disease Association which reveals that more than half of HD patients are declined mental health support due to their diagnosis also points to the lack of clarity in where patients can access support.

“Patients with HD often fall between different services,” says Dr Mazi-Kotwal.

“Often the motor symptoms may be diagnosed by neurologists. And there are significant mental health symptoms that may have been addressed by GP or primary care, mental health services or secondary health mental services.

“But once there is this diagnosis of HD, there are often difficulties in accessing services. While neurology may think a person needs mostly psychiatry, mental health services are generally reluctant to engage, as it is seen as an organic neurological illness rather than a core mental illness.

“And this tussle between services leaves patients without the care they need. And often, the specialist neuropsychiatry services, with the amalgamation of neurology and psychiatry or mental health services, are very rare, and perhaps only available on a consultative basis in tertiary centres.”

The breadth of different specialisms a person living with HD will need can also present logistical problems. “A person with HD may have cognitive difficulties, neurological difficulties, communication difficulties, perhaps cannot speak or articulate properly, cannot eat or drink properly, may be losing weight,” says Dr Mazi-Kotwal.

“So we are bringing in neurologists, mental health services, speech and language therapists, physiotherapists, occupational therapists, nutritionists, GPs - and all of these come with a waiting list. These are not services that see a person all together, they’re all piecemeal.

“It becomes quite a challenge accessing all these services in the community.”

But at St Andrew’s, resources which can be so difficult to access in the community and subject to delay, are all found on site and delivered by an in-house MDT.

“That’s one of the main benefits provided by somewhere like St Andrew’s,” says Dr Harding.

“We have that wraparound support from our own full-time MDT, who can meet that person at the earliest opportunity and assess that person’s needs and formulate risk and need and intervene accordingly.

“We identify what a person’s needs are and track them as they change over time, so we can modify the environment and our approach. There are many ways in which we can do that, all of which are led by the person.

“Wherever possible, we will work directly with the person themselves, but as the disease progresses, increasingly it’s about indirect systemic work through the MDT.

"Crucially, the work that begins from the point of admission and involves the patient and their friends and families, that person-centred care remains at the heart of absolutely everything we do.”

To find out more, please visit stah.org