UK Rare Diseases Framework: An Important Step Towards More Collaborative Diagnosis, Treatment And Care

Last month saw the publication of the UK Rare Diseases Framework, setting out the national vision on how the UK will improve the lives of people living with rare diseases. Elysium Neurological welcomes this important publication which aims to ensure a coherent and streamlined way of diagnosing, treating and caring for patients who are living with a rare disease. By putting patients’ needs first and promoting collaboration between healthcare bodies and professionals, it is an important step towards ensuring that no-one living with a rare disease misses out on the vital care and support that they need.


Empowering patient voices


We are heartened that at the centre of the new framework are the voices of those people living with a rare disease. Patient empowerment to influence and shape the experience and delivery of complex care is crucial. Their voices ensure that positive outcomes are truly reflective of individual needs and not just those of a healthcare system. And in particular, patient voices need to be heard as those affected often feel like they are struggling alone, despite rare diseases affecting more people than you might think.



There are between 5,000 and 8,000 rare diseases and these include conditions such as Huntington’s disease, Myashthenia Gravis and Multiple system atrophy (MSA). Although each disease affects less than 0.1% of the UK’s population, when combined together they affect the lives of 3 million people. So it may seem that individually they are rare, but collectively they are actually quite common, with 1 in 17 people being diagnosed with a rare disease within their lifetime. These figures mean that rare diseases are a significant cause of illness within the UK and as such, people living with them have a wide range of healthcare needs.


What does the framework mean for Elysium?


At Elysium Neurological we have six dedicated services that provide care and support for Huntington’s disease and other rare neurological diseases. Our teams of clinicians, therapists and carers see first-hand the complex variety of healthcare requirements for each patient with a rare disease. Our teams also see how patient outcomes are improved when everyone involved in their care works collaboratively, sharing expert knowledge, experience and best practice. Therefore, we believe that the framework and its subsequent action plans, will bring real positive change in a patient’s healthcare journey.


What are the main priorities of the framework?


There are four main priorities included within the UK Rare Diseases Framework:

  1. Helping patients get a final diagnosis faster
  2. Increasing awareness of rare diseases among healthcare professionals
  3. Better coordination of care
  4. Improving access to specialist care, treatments and drugs

Let’s look at each one in turn.


Helping patients get a final diagnosis faster 


Delays in diagnosis cause a lot of additional patient suffering, ranging from confusion and emotional uncertainty and stress whilst waiting, to missed treatment and gaps in care. A faster, final diagnosis can remove much of this stress from the patient’s healthcare journey and will ultimately result in a more joined-up care experience.

Although our services mostly support patients who have already received a diagnosis, the positive impact of swift recognition of symptoms and understanding of the cause, is far reaching. Faster diagnosis can positively influence a person’s experience of treatment and care many years down the line.



Theresa Fitzpatrick is Service Lead at Badby Park, a specialist neurological care home in Daventry which provides rehabilitation, long-term care, respite and palliative care for people with progressive neurological illnesses, acquired brain injuries and spinal injuries. Theresa leads the Meadows unit at Badby Park which specifically cares for people living with Huntington’s disease and finds that if residents have received a timely diagnosis then all elements of their care benefit.

Theresa says: “Providing quality complex care is about ensuring that we care for the whole person, the individual and what they want, rather than the condition. If a diagnosis is made late, this becomes much more difficult, because with Huntington’s in particular, the individual may not have capacity to shape how their care is delivered.

An early diagnosis means that the patient and their families have time to understand and become informed about the condition and their different healthcare options. They can work together with the Huntington’s disease Association (HDA) to establish a support network, understand how to navigate the different elements of their care and make informed choices. It’s then these choices, that they’ve made in an informed way, that guide all elements of care when they come to Badby Park, ranging from their dietary preferences, to personal care choices, through to end of life care.

A faster diagnosis gives more time to arrange access to the appropriate specialised care. The patient and the family are then able to choose their preferred care placement and the team welcoming them, like our team at Badby Park, have the best starting point from which to organise a team of expert therapists and clinicians that can work together to deliver that care.”

Increasing awareness of rare diseases among healthcare professionals


Increasing awareness of rare diseases amongst healthcare professionals means not only an improved understanding of the condition itself, but also associated symptoms, emotional responses and knowledge of any behaviours that may be exhibited by the patient. All these factors have an impact on the experience of the disease for the patient and when healthcare professionals have a good level of education, training and awareness into the specifics of the disease then they are empowered to provide quality, personalised care that the patient deserves.



In 2020 Joanna McCabe was appointed as the Huntington’s disease Nurse Specialist to support all of Elysium Healthcare’s neurological services. Joanna was formerly Care Centre Director for Stanley House in Herefordshire which has a national reputation for delivering first-class care and support for men and women with Huntington’s disease (HD). During that time Joanna experienced the importance of improving knowledge and providing rigorous training on HD for colleagues so that they could understand the nuances of the condition and how to maintain quality of life for patients, no matter how challenging their care needs became. Jo is now rolling that training out across all neuro services and she finds that one of the most important changes care teams need to make is a shift in mind-set about what HD patients actually need.

Jo says: “When you care for someone with Huntington’s (HD) it requires a slightly different way of thinking and a more accepting approach towards any behaviour that the patient might display. It is about understanding that the behaviour, even if it is challenging, is the condition and not the person. So that’s why training and increased understanding is hugely important.

For example, someone with HD can often be very focused on what they want, perhaps they want a cup of coffee, or a particular food, and they may not relent with their request until it is given. It’s never normally a problem to provide something small like a coffee within a care setting, but often that request is made by the patient with a degree of flexibility, being able to wait whilst it’s being made or being understanding if another task needs to be completed first. Due to mental processing impairments that take place within the frontal lobe of someone living with HD, flexibility and waiting is rarely possible. They’re not being deliberately difficult, they are just not able to wait. This can sometimes cause agitated behaviour.

And for care givers, understanding the impact that the condition has on behaviour, requires a shift in mind-set, a different approach to what they might use in other care settings. This is why training and increased knowledge is really important. Part of providing HD care is giving in to demands and fulfilling requests, even if they are repeated. This helps manage agitation and reduces behaviour that may challenge, allowing other important care and therapy to be delivered. Knowing how to care for someone with Huntington’s can make a huge difference to their quality of life.”


Better coordination of care


The UK Rare Diseases Framework wants “rare disease patients to experience better coordination of care throughout their patient journey” and this is something that whole-heartedly chimes with Elysium’s approach to complex care.

A transdisciplinary (TDT) and coordinated team response is undoubtedly the best way to provide healthcare for people living with a rare disease. These are conditions that always require expertise from a number of specialists. At Elysium, we believe that complex care requires multiple experts working together as a team, sharing clinical knowledge and best practice to achieve positive outcomes for all of our patients.

Our collaborative EveryExpert approach, means that all decisions relating to an individual’s care is made by our ‘team of expert teams’, all working in partnership with the person and their families.

Kirsty Page is an Occupational Therapist specialising in Huntington’s disease and is part of our transdisciplinary team at St Neots Neurological Centre in Cambridgeshire. One of the main aims of her work is to ensure that patients continue to have positive quality of life, whilst maintaining their safety and taking a positive person-centred approach to risk, irrespective of the challenges their condition may present. Kirsty is an advocate of a TDT approach and has found that when she works closely with other clinicians, sharing experience and knowledge, the benefits of the therapies and care provided to the patient are increased manifold.



Kirsty explains: “Working in isolation from other therapists and clinicians, just isn’t feasible when you are providing healthcare for someone living with the challenging features of HD. There’s a natural overlap between the different care disciplines and so I always work very closely with nursing teams, physiotherapists, speech and language therapists (SLTs), dieticians and nutritionists.

For example, it is common for someone with HD to lose their ability to swallow and so ensuring they receive the nutritional support that they require is a team effort. My specialist knowledge of positioning and equipment for managing a seated posture in seating or bed, and experience of equipment such as beds, support systems and chairs complements the work of the physio, the SLT and everyone involved in their care.

We’re lucky at St Neots that we have a full team on-site and we can draw on each other’s expertise to find innovative solutions to problems, without having to wait for external referrals which ensure our patients are reviewed and reassessed in a timely manner by a professional who understands the complex nature of HD.”

Improving access to specialist care, treatments and drugs


The final priority of the framework highlights the necessity to improve access to specialist care, treatment and drugs. Currently very few rare diseases have established treatments, however even where they do exist then access to these therapies is often difficult. It is the goal of the framework, and subsequent action plans, that all patients have good access to therapies, care and treatments as part of their healthcare pathway and that every element of that pathway is delivered to a high standard.

Improving access to specialist care and treatment for all patients is also a priority focus for Elysium Neurological. As part of our clinical governance work, all services regularly meet and share information on best practice and work together to develop new, improved standards. This includes looking at how we can measure and benchmark outcomes from our care and treatment, ensuring that the care we provide is of the highest possible standard and tailored to patients’ needs. It also allows us to identify any areas where we could do things differently for better clinical results.



All six Elysium Neurological services now have agreed a set of outcome measures for each service pathway that is being implemented across the division. Professor Nick Alderman, Clinical Director, Neurobehavioural Rehabilitation Services & Head of Psychology, Elysium Neurological Services, led the project and says it is a significant development in measuring the standard of the care Elysium delivers and an important step forward in enhancing each and every patient’s experience.

Nick says: “Our newly agreed outcome measures were decided through consultation with experts both within and outside Elysium Healthcare, drawing upon a wide range of knowledge and experience to ensure we have the most comprehensive system possible to improve the patient pathway.

Measuring the outcome of the therapies and treatments that we provide will help us monitor their efficacy in treating a rare disease and of course something that is of equal importance, the impact on the patient and their experience of care.

When caring for someone living with Huntington’s disease and other rare diseases that may be neurodegenerative, measuring quality of life for the individual is paramount. These outcome measures will provide more in-depth understanding of how the many experts involved in a person’s care can work together to improve quality of life, and that will make a huge difference to the individual and their family.”


Now is the time for action


Now that the UK Rare Disease Framework has been published, the next step will see action plans from each of the four UK nations, outlining how they will deliver against the priorities and underlying themes within their respective healthcare systems.

Elysium Neurological supports this commitment to continue to work with the rare disease community and we also renew our commitment to a patient-centred coordinated approach to specialist care and treatment.  As soon as we have gathered sufficient data from our new outcome measures to inform our practice, in particular with regard to Huntington’s disease, we will share data and our learnings with the wider specialist clinical community. We want everyone connected to the care and support of those living with HD to have the opportunity to learn from this knowledge.

We also will continue to work with the rare disease community and strengthen our links with organisations such as the Huntington’s disease Association, who play a vital role in supporting patients and families on their healthcare journey. HD has a global community and already key members of our team, such as Kirsty Page, Occupational Therapist at St Neots Neurological Centre, are contributing to international discussions and guidelines with the European Huntington’s disease Network. Over the coming years we will look to become further involved in international discussions and help to improve access to treatment and care for people living with rare diseases worldwide.

We are always open to working in partnership with other organisations in the rare disease community, so if you’re a member of an organisation where you feel collaboration would be possible then please do get in touch.