Our response to the draft UK Rare Disease Plan

Sarah Bramley-Harker,

Department of Health,

Screening and Specialised Services Team,

Room 5W35, Quarry House

Quarry Hill



May 29th 2012


Dear Sarah,


Consultation on the United Kingdom Plan for Rare Diseases


Who We Are


Northern Ireland Rare Disease Partnership is a not for profit organisation, bringing together those living with a rare disease and organisations representing them; clinicians and other health professionals; researchers and producers of specialist medicines and equipment; and health policy makers and academics.

Our aims are to advocate, educate and innovate on behalf of those living with Rare Diseases, and those involved in their treatment and care.  We work closely with RDUK, and we would wish to endorse their detailed response to the consultation.


Our Response to the Consultation


1.  Accessibility

We are very grateful for the extension to the deadline for submission of responses granted by your office on 25 May.  However, using the 12-week minimum permissible period for a consultation on a subject of such importance and complexity as the UK’s Rare Disease Plan seems to demonstrate a worrying lack of awareness of the reality of living with, or caring for those with a rare disease.   The Plan will shape policy and operational responses far into the future.  It will impact on people living with disabilities, and on those carrying heavy burdens of caring and of professional responsibilities.  So it is important that the consultation process should enable the views, knowledge and experience of all these stakeholders to be taken into account.  We have found it very difficult to do this comprehensively, and in a meaningful way, within the time allowed.

Additionally, the exclusively web-based consultation methodology shows a lack of comprehension of the realities of life beyond the metropolitan centres, and of living with disability.  Internet access is far from universal, geographically and socio-economically.  Neither is the internet a suitable medium of communication for some stakeholder groups; yet the consultation was not available in other formats or languages; and not even in a “Plain English” version.  These factors make genuine and inclusive engagement in the consultation process problematic.


However, we welcome Northern Ireland launch of the Draft Plan by Minister Poots on Rare Disease Day, at the event supported by the Patient Client Council, inaugurating the Northern Ireland Rare Disease Partnership and attended by many NIRDP members and elected representatives.  We think that this is a positive demonstration of a collaborative model of working together.  We look forward to commencing a dialogue with policy officials here soon, so that the final Plan is fully informed, fit for purpose, and enjoys the full support of all the stakeholders.


2. Medical Focus


The current draft is very focussed on the medical aspects of rare disease treatment and care. We would like to see the social care and welfare aspects of living with a rare disease recognised much more fully in the final Plan.  This would include recognition of the need for on-going support, advice and information, so that people affected by rare disease can enjoy their full rights as citizens, including access to education and employment, and to participation in society.  This should include not only those directly affected by rare diseases, but also their carers.  [see also 4, On-going Treatment and Care, below]


3. Speedy Diagnosis and Early Intervention


The final Plan must be clear that for people with rare disease the pathway to diagnosis is as important as the subsequent pathway of treatment and care.

It is well known that people with rare disease often experience very long and convoluted diagnostic pathways. This is amply demonstrated in the Patient and Client Council report ‘Experience of Diagnosis: Views of patients and carers of diagnosis of rare diseases in Northern Ireland’ (February 2012, available at: http://www.patientclientcouncil.hscni.net/uploads/research/Experience_of_Diagnosis.pdf), which was developed in collaboration with the Northern Ireland Rare Disease Partnership.

Where a patient is clearly unwell but the cause remains mysterious the Plan should prescribe an augmented diagnostic response.



Where the diagnosis is not clear, the Health Service should be mandated to intensify its efforts to establish the cause of symptoms. These patients should be fast tracked including through direct consultant-to-consultant referrals.  They should not be subjected to a disconnected series of “routine” waits, which increase isolation and stress. This approach would this benefit both the patient and the Service, by reducing casualty attendances, hospital admissions and potentially dangerous and damaging inappropriate prescribing, while waiting for an accurate diagnosis.  Identifying and keeping a tab on difficult to diagnose cases could be a part of the role for the Rare Disease co-ordinators proposed at 9, Centres of Excellence and Networks, below; the proposals at 5, Training, are also relevant.


4.  On-going Treatment and Care


Aside from delayed diagnosis, there are two other aspects of service provision that present particular challenges for people affected by rare disease.

The first of these is the range of interventions that some people require, necessitating very regular appointments at multiple clinics.  (One of our members tellingly describes this as “my daughter has a different consultant for every bit of her”).  The draft’s recognition of the need to coordinate this activity is welcome. However, the capacity of individual patients and their carers to withstand multiple interventions at one sitting has to be balanced against what might otherwise be the “most efficient” pattern of appointments. The final Plan should recognise this aspect.


There are also specific challenges faced by people with rare conditions at transition points.  The need for the system to deal effectively and efficiently with these transitions is increasing as treatment and care improvements lead to increases in life expectancy.  These transitions now run the full gamut: from baby to child, child to adolescent, adolescent to adult and from adult to older person. At these times there is a need for additional planning and focus to ensure the patient makes a smooth transition from one service to another. The final Plan should make specific reference to the need to actively manage these transition stages within the Health and Social Care services, committing additional resources as required to ensure a smooth and effective handover.  It should also include the need for cross-sectoral working, as education, employment and transport also have important roles in enabling those with rare conditions to play a full part and contribute to society. [See also 2, Medical Focus, above]


5. Training


As the draft rightly points out, IS/IT solutions to alert clinical professionals to the possibility of a rare disease are essential to enabling earlier diagnosis. It is our experience that failure of professionals in all specialisms to listen actively and intelligently to patients and carers is also a considerable obstacle to diagnosis and to effective and efficient on-going care and treatment.


We recognise that diagnostic skills are a core component of medical training. We do not think it is sufficient to assume – as the draft currently does – that rare disease is adequately addressed in general training.

We would like the Plan to propose that a module on rare diseases is introduced to undergraduate and postgraduate curricula. This should focus on the specific challenges rare diseases can present in diagnosis, and in on-going treatment and management, and on the importance of effective communication and engagement with patients and carers.

The current draft addresses only medical training.  We would like the final Plan to propose that a similar module is introduced to the curricula for Nursing, Allied Health Professionals and- crucially- Social Workers.  Given their increasing role in planning for effective front line delivery, awareness training for GP Practice Managers should also be considered.

We attach great importance to this area; and we are anxious to contribute to discussions, and to explore ways in which we, and people living with rare disease, could contribute constructively to delivery.


6. Screening


As a basic principle, screening should be introduced where it can identify the presence of a rare disease.  However, as the draft recognises, there are considerable and complex ethical and legal dimensions to screening. The family planning dimension is now a changing picture, especially with the introduction of techniques such as PIGD.  There are, for some rare diseases, issues both of the “right to know”, and of the “need to know”. For example, if a child is born with a rare condition, which only manifests in later life, should the child be made aware as early as possible or only when they reach maturity?


Apparently, an important aspect of decision making by the National Screening Committee is whether a condition is an “important health problem”. Although individual rare diseases affect a relatively small number of people, the broader impact on families- especially of inherited

conditions- produces a considerable multiplier effect, not captured by current methodologies. In addition, the scarcity of the disease can make it difficult to establish the evidence base for screening. For rare diseases, all this might lead to a decision to screen only rarely; and so to lead to systemic missed opportunities, avoidable costs and inefficiencies, quite apart from the more intangible human costs.

We would like the final Plan to be explicit about all the main ethical and resource challenges of screening for rare diseases.

We would like the final Plan to give an assurance that the decision-making processes of the National Screening Committee will be re-examined to ensure that they do not act so as to produce a tendency to exclude rare diseases. Further, we would suggest that a special Sub-committee of the National Screening Committee, including members experienced and knowledgeable on rare diseases, be established to consider and decide upon screening for rare diseases.

These ethical and legal considerations for screening are also relevant to Genetic Testing, below. [see also 8, Research, 10 Genetic Testing, and 13 Registers, below]


7. Coding and Classification


We believe rare diseases should be identified as comprehensively as possible through screening, disease registers and coding and classification. Any system for identifying and tracking rare diseases must be capable of universal application across all health and social care (including education and welfare) services nationally, and internationally.


For some conditions, universality and international application might be seen as desirable, but not essential. For rare diseases, both universality and international application are essential for the realisation of benefits to patients and carers, and for the efficient and effective utilisation of scarce specialist resources.


We support the work being done to address the specific challenges of rare disease within the development and implementation of a new clinical coding system.   We would urge that this should be strongly disseminated and firmly prescribed, especially in areas where accurate coding is currently less than perfect- e.g. outpatients, where we believe there is a strong tendency to code as “any other condition” rather than use the actual condition code, resulting, inter alia, in significant under-reporting of the impact of rare diseases, including to health and social care workloads.


8. Research


While the draft highlights areas in which research on rare disease has been prioritised and international work encouraged, it falls short of making a statement of policy on what is desirable for research in rare diseases.  We also find it inexplicable and profoundly disappointing that Northern Ireland is not part of the UK’s National Institute for Health Research, and so researchers (and patients) in Northern Ireland are excluded from participation in this National Research effort. This is hard to reconcile with the Northern Ireland Executive Programme for Government’s stress on innovation, science and technology as a means of rebalancing the economy, or with the DHSSPS’s express commitment to promoting Northern Ireland as a leader in health innovation. As Mr Poots said recently, “Greater use of innovation and technology is essential to meet the challenges of delivering effective services with increasingly constrained resources and rising demand. To do this, we need greater collaboration across the health sector, academia and industry.”

However, without participation in this important aspect of the UK research drive, Northern Ireland’s efforts will be restricted. It will be more difficult for Northern Ireland to become a genuine leader in innovation. We would like the final Plan to underwrite a rare disease strand be present permanently in government-funded research, and to focus on collaborative UK, EU, and international research projects and programmes. Such an underlying policy principle will ensure the continuance of rare disease research programmes, when specific initiatives end. It could help attract collaborative inward investment, and translate Northern Ireland’s academic, medical and industrial strengths into tangible innovation and improvements in services, care and treatments.


Similarly, there is a need to ensure that Northern Ireland is included in the process of centralising and streamlining approvals for R&D, in particular to ensure that these do not discriminate against rare diseases, as many of the same factors as with screening, around small numbers, dispersed locations, etc. come into play and may militate against applications. [see also 6, Screening, above]


9. Centres of Excellence and Networks


We strongly support the draft’s proposals on a system of Centres of Excellence, linked to local networks and personalised care planning.  We believe this is a rational service structure to meet the needs of people affected by rare diseases.


However, it seems that service co-ordination is a challenge even for common conditions. Personalised care planning is still an aspiration rather than a reality for many patients. This could very easily create a situation where the need to address service co-ordination and personalised care planning more generally delays progress on these matters for rare diseases, which would be pushed to the back of the queue.


Instead, we would like the final Plan to recognise rare diseases as presenting an opportunity to pioneer with small numbers of patients new methods of co-ordinating and personalising treatment and care.  As a minimum, we would like the final Plan to assert that people affected by rare disease must be included as a specific interest group in the development of general policy on service coordination and personalised care planning.


From a Northern Ireland perspective, we would like explicit recognition of the fact that most Centres of Excellence inevitably lie outside Northern Ireland, whether elsewhere in the UK, in the Republic of Ireland, or further afield.  The final Plan should recognise that access from Northern Ireland to such Centres, and the development of linkages with the local support networks here will require particular attention.  In addition to the obvious geographical barriers, it is our experience that there are also considerable attitudinal barriers amongst some clinicians, and additional bureaucratic hurdles to be overcome in establishing robust and reliable linkages between specialist Centres and front line service providers.  In our view, a means of tackling these issues might be the designation of a Clinical Lead for Rare Disease in Northern Ireland, perhaps building on the existing Regional Medical Genetics Unit’s expertise, supported by a designated Rare Disease Co-ordinator in each Health and Social Care Trust. This model would provide a mechanism for linkage, communication and support between the remote Centres of Excellence, front line service delivery, and patients and carers.  It would also support the effective and efficient delivery of the improvements advocated to diagnostic pathways [3 Speedy Diagnosis and Early Intervention] and to on-going treatment and care [4 On-going Treatment and Care] and be a focus for integrating the information available from Registers [13 Registers] into commissioning and service delivery at the Northern Ireland and local levels.


10. Genetic Testing


We see genetic testing, along with screening and disease registers, as essential to creating reliable information on rare disease that can be used to plan and provide effective services. However, as with screening, there are complex ethical and legal issues involved, including the requirement to disclose the results of certain predictive tests to e.g. Insurance Companies. We think the final Plan should set out a UK wide mechanism for consideration of these issues and their implications, including for access to new treatments, such as pre-Implantation Genetic Diagnosis. [see the comments at 6, Screening, and 8 Research, above]


11. Medicines for Rare Diseases


We strongly support initiatives that ensure that medicines for rare disease are researched and provided to patients. We recognise and fear the risk in rare disease that patient numbers will not be sufficient to produce the evidence normally expected by decision makers on the licensing and suitability of medicines.

To the lay-person, the proposed arrangements in the current draft are not clear in their purpose and operation. The final Plan should be clear about how decisions to approve medicines are made, and how the highly specific needs and exceptional circumstances of people with rare diseases will be addressed. It is essential that people with rare diseases are not adversely impacted by inappropriate and impossible to meet requirements originally formulated for common conditions, without taking account of the unique characteristics of rare diseases.


Controversial decisions on drug provision made by NICE and local decision makers have caused significant patient anxiety in the past. Such decisions are often presented – rightly or wrongly – as about cost effectiveness and meeting the need of the greatest number of patients. Individual rare diseases would never satisfy such criteria.


It is of vital importance that patients and the public understand decisions to fund medicines. For people with rare diseases the final Plan is an opportunity to be clear on how this process works and to provide assurance that the rarity of their individual condition will not operate to exclude them from receiving the medicines they need.


12. Empowering those Affected by Rare Conditions


The current draft describes the various means by which people affected by rare disease ought to be empowered. It is worth noting that most of these – including the Northern Ireland Rare Disease Partnership – are very recent innovations.  At the consultation stage, it was perhaps sufficient to cite the statutory involvement duties, the initiatives on self-management in recent policy for long-term conditions, and the role of advice and information.


However, we believe that the final Plan should specifically note the early stage of development of most of these initiatives along with the need for a phase of focussed support for their development. The Plan should also evidence the intent to provide this support, in the same way as it supports research, medicines and other initiatives. That England has no specific arrangements as yet does not mean that arrangements are well developed in the other countries. That these initiatives are at an early stage provides also an opportunity for the final Plan to state that there should be national and international collaboration and information sharing through their development.


Ready access to advice and information is an essential component of patient empowerment.  The Core Sources of information, the Information Standard and Information Prescriptions are all initiatives that we support. We would also suggest that the final Plan prescribes national co-ordination of rare disease information to feed into these various initiatives. People affected by rare disease cannot afford organisational or territorial boundaries to be an obstacle to information sharing. We feel strongly that the Orphanet initiative should continue to be supported, as a valuable and trusted source of information.


13. Registers


We believe that the establishment of registers of rare disease is essential. They should be used both in establishing databases for research, and in providing information for planning and managing service delivery efficiently and effectively. Registers might also pick up on people (e.g. with late onset conditions) who are not currently involved with health and social care services, adding to the ability to “forward plan” for service delivery.  We know that many people with rare diseases are eager and willing to participate, if a register is available and accessible, as this allows them to contribute something to the research effort, adding to the knowledge available on their condition. This is an important element of “patient empowerment”.

However, participation in registers is not always a straightforward matter. For example, people with HD in Northern Ireland cannot easily participate in the EuroHD Register as it appears that clinicians here do not conduct the assessments and record the information required for inclusion. So HD patients would have to travel to a centre in England in order to participate. Similarly, we understand that the University of Ulster hosts EUROCAT, the European Congenital Abnormalities Register, but data from Northern Ireland is not included on it. From a patient perspective this seems inexplicable.

We believe the final Plan should set a clear strategic direction, strongly encouraging establishment of Registers; participation in them; and (all importantly) use of the data not only for research but as part of the evidence base for commissioning and delivery of services. Given its size, Northern Ireland should work towards using modern IT systems to establish a single rare disease Registry, under the auspices of the Clinical Lead for Rare Disease and the Rare Disease Co-Ordinator model described under Centres of Excellence and Networks at 9 above. [See also 4 On-going Treatment and Care, and 8, Research, above]




The Northern Ireland Rare Disease Partnership has been established to help to meet the needs outlined in the draft plan for improved awareness and education, coordinated services and patient and carer involvement in the planning and delivery of services for people affected by rare disease.

We are a new organisation with few resources but we intend to contribute to the agenda outlined by in the draft fully and constructively.

We are mindful of our geographical position and of the specific requirement this creates to collaborate beyond national boundaries. With this in mind, we are sending a copy of our response to the Departments of Health in the Republic of Ireland and the Isle of Man.


Within Northern Ireland, the next five years will see a fundamental shift in the way in which health and social care services are provided. The strategic direction of services matches the aspirations of the draft Plan, with specialised hospitals supporting local networks and a strong emphasis on patient empowerment. We have copied our response to the Minister and Committee responsible for Health and Social Care in Northern Ireland.


We look forward to seeing the final version of this important Plan and to playing our part in its implementation in Northern Ireland and beyond.



Yours sincerely,





Christine Collins


Northern Ireland Rare Disease Partnership










One Response to Our response to the draft UK Rare Disease Plan

  1. patricia says:

    delighted to read this report But i live in south Ireland and have igG4 Disease a rare and aggressive form there is not enough information on the Disease so it is treated as Wagers granmolatos,, since i have had this 2012 my life is on hold i find it difficult to survive mentally,physically, and financially, yours Patricia Bourke

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