Urddad-Foundation Answers Northern Ireland Consultation on Rare Disease Plan

  1. Do you think the action to empower those with rare diseases will allow

                       Northern Ireland to meet its commitments?

          Theme 1: Empowering those affected by rare diseases



The UK Strategy aims to ensure improvements across the whole patient journey, from the patients’ first contact with the GP through to diagnosis, support and management of a rare condition

The Commitments in the strategy emphasise the fundamental role that the patient, supported by their family/carer and/or patient organisation will play during this journey. Patients and their families are often those with most knowledge about their condition, its management and services they require. They are often supported by a wide range of groups: these can be global networks and patient organisations working at a national level as well as those based in Northern Ireland

The third sector and particularly patient organisations can help provide the knowledge many organisations provide information and support through Websites, they are also registered with other European organisations like Eurordis and the European Network of Rare Disease help lines many are also registered Orphanet   they also have the knowledge of what is available in their local areas they can also carry out leaflet drops as well as being able to act as the patient’s advocate when needed. Patient organisations can bridge the gap between patients, their families and the health service.

While mechanisms for patient involvement in service provision and research have been developed and piloted in some areas, these need to be strengthened in relation to rare disease guidance in some cases the patients may need to secure access to health and social care services to help manage diseases, and formally extended to include learning difficulties, complex needs, and consideration that all rare disease are not the same and that all care packages will not fit all 75 % of rare diseases affect children from birth to 5 year old of their non-medical needs may change and any plan should include a review time scale

Such services like evaluation and monitoring via patient experience surveys. Currently there are no formal mechanism for patients and families to feed into the planning where a plan is required, by a named lead professional. This will determine the need for a care and support plan. Where a plan is required, it should make clear who the care and support co-ordinator is, and who has specific responsibility for completing and monitoring the plan. There should be an independent monitoring service to evaluate the plan to ensure that it meets the needs of the patient this could be carried out by charitable organisation

While it understood that the HSC in Northern Ireland are committed to listening to the views of patients the UK Strategy aims to ensure improvements across the whole patient journey while the Department and the HSC wants to afford every opportunity to learn about the needs of individual patients and their needs rare diseases are by their nature rare it is vital for the Department and the HSC sign up to the orphanet web site to enable the department to keep its self-updated on any new information. It is also one of the best websites for information on what is happening with other groups in Europe

We also understand the Department wants to further secure its engagement by building their strong working relationship with the Northern Ireland Rare Disease Partnership (NIRDP) we feel that this should not be at the cost to other organisations who have been engaged with rare disease issues for many years we feel that patients with complex rare diseases could fall through the net

We are concerned that many children have undiagnosed conditions and many have ultra-rare- disease and children with this condition have been so profoundly affected they need complex care we feel that patients with complex needs and there family’s needs must be ring-fenced. 75% of rare diseases affect children and they must be cared for the rest of their lives the needs of individual patients cannot and must not have constraints on resources ultra-rare- disease for these patients means a life commitment from the Department and the HSC

We are greatly concerned about the relationship that the Department and the HSC has with the NIRDP and its consultation avenues that are already in place we feel that all groups must be treated as equal within their field we must not have a situation arise when the Department or the HSH will only consult with the NIRDP as the strategy will become under threat as the only group that they will consult with is the partnership we would again remind the Department and the HSC of its commitments under section 75 to ensure that all groups are treated equality and that one group or groups cannot be excluded from any consultation process because it is not a member of the NIRDP other groups must have the right to discuss patients cases with the Department and HSC

We also hope the Department and the HSCB will grant every group the commitment it will participate in all groups’ events and support them to provide opportunities for people living with rare disease and their carers to give a first-hand account of the impact that rare disease has on their lives

Theme 2 Identifying and Preventing Rare Diseases

The UK Strategy noted that many rare diseases are present at birth and are either caused by a genetic problem (for example cystic fibrosis) or deficiencies or exposures to substances around the time of conception or during pregnancy.

200,000. That’s how a “rare disease” is most often distinguished from a “common disease” — 200,000 or fewer people need to be affected for a particular disease to be rare, officially, in the United States. Rare diseases affect mostly children in fact 75% of all rare disease affect children from Birth to 5 year old and many are genetic. Hemophagocytic Lymphohistiocytosis (HLH) is a rare disorder primarily affecting young children from a very early age but it is found in patients of all ages.

Although Doctors have written about the disorder over the years it has only been recently that it has received much attention Patients with active HLH have to many histiocytes as well as lymphocytes (another kind of infection-fighting cell), both of which are so called white blood cells that may cause inflammation (swelling, redness, heat, pain, and loss of function) Theses cells then begin to penetrate and accumulate in good tissue and can cause damage to a variety of organs some possible sites are: bone marrow, lymph nodes, liver spleen skin membranes surrounding the brain, spinal cord or, more rarely, the brain its self

What causes this disease?

Scientist do not yet know all the complicated processes involved in this disease

There are two major forms of HLH .One known as the primary form, is inherited. The other is known as the secondary to inappropriate (abnormal) activity of the immune system. This can occur after the use of immunosuppressive therapy and/or infections

What dose familial mean?

Familial Hemophagocytic lymphohistiocytosis (also known as FHL, FEL, or FHLH) means that the particular form of the disease is genetic. Families who have had more than one child with HLH will have the diagnosis changed to FHL because this form is genetic, there is a 25% chance that each young sibling will have FHL The onset of FHL usually occurs within the first two years of life

How will you know it is familial?

(familial) and secondary form of HLH in each patient, However, onset a stage is suggestive of a familial form whereas onset later than 6 years of age is rare in the familial form Discussion with your child’s doctor concerning family medical history and past infections of your child sometimes, but rarely, may offer clues. If there is a brother or sister who also acquires the same disease, it is usually familial. It is important to know that if the disease has been triggered by a virus, it may still be familial The uncertainty of not knowing whether your child has a familial form of this disease adds to the frustration of parents and doctors Scientist are focusing on ways that a genetic test can be developed HLH is life threatening disease Exactly how the disease will progress is a difficult question for anyone to answer. You can expect your child to receive extensive testing and aggressive treatment with various types of chemotherapy and/or other drugs

Sample 1 HLH Rare Disease

The majority of cases of rare diseases are not identified

There will in future be greater efforts to avoid the emergence of signs and symptoms through preventive therapies aimed at those who are genetically at very high risk. Screening will not always pick up rare diseases due to the nature of the disease and for some rare diseases screening would be of help if there is a dependence on screening alone then our fear would be that many people may fall through the net Many diseases in their nature are rare and many of them have not been indexed

We feel screening would help but we feel used only if the patient is showing signs of a rare disease that has already been diagnosed using New quality assurance standards for rare disease testing Rare disorders have been defined by the Orphan Drug Act of 1983 as those that affect less than 200,000 individuals in the United States. Ultra rare disorders are considered having a prevalence of less than 2000 some examples include pantothenate kinase-associated neurodegeneration, infantile neuroaxonal dystrophy syndrome and x-linked ocular albinism. Because of their rarity, test request volume is generally too low to be of interest to the mainstream clinical molecular genetics laboratories our fear would be that patients with ultra-rare diseases would fall through the net if Northern Ireland was to depend on screening only

The New-born Bloodspot Screening Programme is the most relevant to the Strategy for Rare

Diseases. It involves taking a small sample of blood from the baby’s heel ideally on day five Diseases. It involves taking a small sample of blood from the baby’s heel ideally on day five of life. The sample is screened for rare but serious diseases that respond to early mortality intervention to reduce and/or morbidity.

       Theme 3              Diagnosis and Early Intervention

Early and accurate diagnosis of rare diseases is a prerequisite for best care and early intervention. Diagnosis of rare diseases often requires recognition that a possibility of a rare disease as a cause of common symptoms and signs and therefore poses a big challenge in non-specialist care.

In a small number of diagnoses of a rare disease may be as a result of screening, for example following new born and antenatal screening. Early diagnosis and early intervention may also follow testing because of family history of a rare disease, where no symptoms of the disease have yet appeared. Increasingly, early diagnosis and early intervention offer the prospect of prevention of disease through prenatal or, in the case of IVF, preimplantation

But in many cases there are no warning signs at all and its only when it becomes almost too late and a child is in hospital that they find they have in fact got a rare disease The family GP is the first point of contact and the need to help  our GPs. And diagnostic prompting to help him/her make a decision on when to send the patient for genetic testing is vital we are finding new rare diseases all the time. We cannot expect our GPs to know every single rare disease that is out there.

Northern Ireland cannot handle rare diseases on its own because rare disease has no borders. We have to grasp what others are doing to put their citizens first. We agree that training helps, but a rare disease undiagnosed could speed up mortality rates, training takes a long time we need to have in place tried and tested methods Northern Ireland needs to grasp all the new methods, that are being given to other Health Services in the United Kingdom and Ireland, 75% of all rare diseases affect children from birth up to the age of 5 year old who speaks for them.

To make a statement that our GPs will never see an example of many of the conditions which are termed collectively as rare diseases is a damning statement. Rare diseases are not so rare that is the point of the UK strategy on rare diseases why should Northern Ireland be so different from the other three countries within the UK they are in fact better off than Northern Ireland due to their mainland location

We need to know when progress is to be achieved through the Modernizing Scientific Careers (MSC) an acclaimed UK-wide government initiative to address the training and education needs of the whole healthcare science workforce in the National Health Service (NHS). This aims to introduce flexibility, sustainability and modern career pathways for the healthcare science workforce to meet future needs of the Health Service. It sets out an education, training and career framework for all healthcare scientists, including a strong focus on genetics we want to know how far this is away from being finalized and would the Department and the HSC support it or would it be the case if resources are there?  We would like to have a qualifying answer on this before we could depend on this happening

 In respect of providing access to information in Northern Ireland, the existing data

Collection system (NIECR) runs on software provided by Orion Health on secure servers in the HSC data centres and is available to authorised users for the delivery of care throughout the HSC and all GP practices across Northern Ireland. The potential for strengthening this system, to collate information and provide clinicians with a comprehensive history of treatment and facilitate more informed decision-making in a shorter period of time, should be considered, Once more this statement is not telling us anything Only that HSC has a system (NIECR) runs on software provided by Orion we would like to know that if the HSC is working on Orion will it work on the NHS network. Radical new plans to improve health outcomes and the quality of patient care through digital technology and innovation have been unveiled by national health and social care organisations today.

Established by the Department of Health and chaired by NHS England’s National Director for Patients and Information, Tim Kelsey, the National Information Board has set out a bold vision for how technology should work harder and better for patients and citizens by 2020.

The vision commits to giving everybody online access to their GP records, viewed through approved apps and digital platforms, by 2015.(Source NHS) we would feel that the Department and HSC  must be in a position to be able to conform its plans regarding its computer systems as to there the capability of linking our system or replacing it  and is there capability of linking with  are European partners

There is excellent potential in Northern Ireland to consider establishing rare disease database(s) where they do not exist. Expertise and experience in epidemiology, statistics, informatics, genetics, data management, and data protection are all readily available within Northern Ireland. Consideration should therefore be given to the potential for Northern Ireland to develop a comprehensive rare disease registry and information hub that could potentially set high standards within Northern Ireland and will also link into the main NHS hub in the UK

The effective use of screening, carrier testing and cascade testing for severe genetic conditions can all help to reduce the impact of a disease by escalating the point at the diagnosis process. The advent of genomics offers new possibilities for which a rare disease is identified we therefore need to ensure that where possible speedy diagnosis can be provided for people with a rare disease and ultra-rare diseases and disorders

The HSCB and PHA will continue to secure access to effective clinical and social care for people with rare diseases including NICE Technology Appraisals and Highly Specialised Technology evaluations (recommendations on the use of new and existing highly specialised medicines and treatments within the NHS) and UKGTN tests. Ultra Rare Diseases will cost the department more to obtain will they use same criteria as a rare disease or will provisions be made in budgets to cope with any new ultra rare disease

Centres of Excellence in the Treatment of Rare Disease

Theme 4

The UK Strategy aims to ensure improvements across the whole patient journey, from the patient’s first contact with the GP through to diagnosis, support and management of a rare condition

The Urddad-Foundation has been calling for a centre of excellence for Northern Ireland, we feel this is vital for the treatment and the outcome for patients and their families. The Health and Social Care sector in Northern Ireland is committed to ensuring that the diagnosis and care provided for people with rare diseases is effectively coordinated and connected at local level, a key premise in commissioning health services for Northern Ireland is providing local services where possible and seeking specialist treatment where this is not available in Northern Ireland; this will be a key driver in shaping the commissioning profile for specialist care. With a population of only 1.8m Northern Ireland is however unlikely to ever be in a position to independently support highly specialist elements of care for rare diseases locally and will need to continue to link with tertiary and quaternary centres in Great Britain (GB) and elsewhere to secure access to the full range of care needed Northern Ireland already has a strong relationship with many of the specialist units

In theory this sounds good but in practice it is very flawed. “Let’s take the first statement committed to ensuring that the diagnosis and care provided for people with rare diseases is effectively coordinated and connected at local level” the problem we see with that is we are a small country and we know of budget restrictions and we also know the NHS England are starting to roll out centres of excellence across England we feel that Northern Ireland and its citizens are being unfairly treated. And to confirm this I would ask the Health and Care to view the NHS England web site

Professor Mark Caulfield, Chief Scientist at Genomics England, said: “The creation of the new NHS Genomic Medicine Centres will play a key role in bringing together researchers, NHS clinicians and trainees to work on whole genome data that has never been collected on this scale before.  We have a clear goal of accelerating the findings from the programme back into mainstream healthcare at the fastest possible pace, meaning more rapid results for patients.”

The first wave of 11 designated Genomic Medicine Centres are:

  • East of England NHS GMC – designated for both cancer and rare disease. Led by Cambridge University Hospitals NHS Foundation Trust.
  • South London NHS GMC – designated for both cancer and rare disease. Led by Guy’s and St Thomas’ NHS Foundation Trust.

North West Coast NHS GMC – designated for both cancer and rare disease. Led by Liverpool Women’s NHS Foundation Trust.

  • Greater Manchester NHS GMC – designated for both cancer and rare disease. Led by Central Manchester University Hospitals NHS Foundation Trust.
  • University College London Partners NHS GMC – designated for both cancer and rare disease. Led by Great Ormond Street Hospital NHS Foundation Trust.
  • North East and North Cumbria NHS GMC – designated GMC for rare disease only. Led by The Newcastle upon Tyne Hospitals NHS Foundation Trust.
  • Oxford NHS GMC – designated for both cancer and rare disease. Led by Oxford University Hospitals Foundation Trust.
  • South West Peninsula NHS GMC – designated for both cancer and rare disease. Led by Royal Devon & Exeter NHS Foundation Trust.
  • Essex NHS GMC – designated for both cancer and rare disease. Led by University Hospital Southampton NHS Foundation Trust.
  • Imperial College Health Partners NHS GMC – designated for both cancer and rare disease. Led by Imperial College Healthcare NHS Trust.
  • West Midlands NHS GMC – designated for both cancer and rare 

Urddad-Foundation feels that Professor Mark Caulfield Chief Scientist at Genomics England has got it right he is taking the specialist care out to the cities to save time and delays in diagnosis surely Northern Ireland has a good case for the same rules to apply we feel his statement: We have a clear goal of accelerating the findings from the programme back into mainstream healthcare at the fastest possible pace, meaning more rapid results for patients.”

Northern Ireland cannot sit on the back seats in health care, our citizens deserve a health service that is in the main stream of research and leads the way in Ireland for patient care, we also look at the statement,” With a population of only 1.8m Northern Ireland is however unlikely to ever be in a position to independently support highly specialist elements of care for rare diseases locally and will need to continue to link with tertiary and quaternary centres in Great Britain “we read this with dismay and we feel sorry for our citizens to have a health service with this vision.

Rare Disease and ultra-rare diseases will cause a challenge to Northern Ireland Health Care we feel it cannot be underestimated and we know our health service  will have to raise to the challenge we already see our citizen’s having to travel to other parts of the United Kingdom and to America we see many of the families having to raise funds locally to try and get treatment for their child we also hear of cases of parents that wanted to travel to the United Kingdom and were unable to be funded we have seen couples live and work in the United Kingdom and having to close up their homes and travel to a hospital in another region to be treated. This in turn put added strain on a marriage at a time when husband and wife need to pull together and if there are siblings they have had to give up school to be with the rest of the family. We have also seen families traveling up to 400 miles with a sick child because the local hospital could not deal with them as they did not have the specialist consultants, when rare disease comes knocking on your door from that moment your life changes. No one can walk in the shoes of a family that has a child with a rare or ultra-rare disease without doing it themselves.

Urddad-Foundation agrees it is especially important to ensure care provided by different service areas complement each other and provide a package which uses resources effectively to provide the best input from appropriate health care professionals and patients. We would like to know how this will be achieved when the health service is already making huge cuts in peoples care and taking away care packages. Can the Health Services afford to remove care from patients while undercutting services? Rare Disease and ultra-rare disease patients will need care for the rest of their lives. Urddad-Foundation sees the need to keep family units together we see the family unit as a whole will need support and counselling services. They cannot be expected to deal with the emotions and the feeling of guilt without back up services.

We see the damage rare disease can do to families and also the effects it has on the patients. Our health services need to have a joined-up approach to rare disease and ultra-rare disease. We have read in its Rare Disease Consultation Plan that it is based on patients being able to return to work. We look at this in many cases as it is not possible due to how the disorder affects them. We have seen many cases where patients could not survive without a long term life package. We have also seen patients with learning disabilities, anger problems, behaviour problems and Epilepsy having up to 160 episodes per month some patients are entrapped at the age they became unwell.

This brings it back to Commissioning Health Services. This is hard to add up where the services are coming from if we are already making huge cutbacks in our services. Where is the Department going to find new funds to meet the commitments it has at present, or will there be added funding for care? We have to look at mental health services, special learning disabilities units, we also see an increase in costs for drugs and research. We have been unable to do anything on the Compton Report and we are behind on the Bamford Report. It concerns the Urddad-Foundation that if there is no new money for local problems we already have within our Health Services, how will they be able to cope with what is required for a Rare Disease Strategy that will match the rest of the United Kingdom and the rest of our European Partners

Theme 5: The role of research

The role of research into rare diseases has a UK-wide dimension and we have used the above theme to suggest opportunities for Northern Ireland based research to contribute to international understanding of rare diseases. The following Actions therefore aim to strengthen Northern Ireland’s: contribution to UK-wide policy; and, the capacity to build on Northern Ireland’s existing research base.

With regard to the research role of specialist clinical centres, this is already included in the Regional Genetics Service draft service specification and is part of its practice. Clinical Research Networks in place in Northern Ireland are compatible with networks across the UK. Northern Ireland’s stable population, tightly knit structure and local expertise makes it an attractive option for a base for rare disease research.

In addition, opportunities exist for Northern Ireland based academic and clinical researchers to participate in research with colleagues from across the UK or globally.

The management or rare diseases a lot of concentration of medical expertise and many rare diseases are of genetic origin and effect the biological process and every cell in the body examples the heart, liver, kidneys, may be affected

So it involves a lot of specialist and expertise this expertise is not just required from our doctors or lead consultants but also from nurse’s therapist’s psychologist and diagnostic departments


The NICRN has been established to support the clinical research community in Northern Ireland

NICRN Mission Statement:

Our mission is to develop and enable a well-resourced network of skilled staff which provides investigators and patients from throughout Northern Ireland with access to and help in developing high quality clinical research studies across all Health and Social Care (HSC) structures. We aim to:

  • Enhance the ability of patients and Health care professionals to participate in and benefit from clinical research
  • Enhance the quality of clinical research undertaken within HSC
  • Improve the speed of delivering research outcomes
  • Enhance the regional coordination of clinical research across Trusts and academic organisations

Improve local integration of clinical research within HSC structures and service The NICRN has been established to support the clinical research community in Northern Ireland.

          • NICRN Mission Statement:
  • Our mission is to develop and enable a well-resourced network of skilled staff which provides investigators and patients from throughout Northern Ireland with access to and help in developing high quality clinical research studies across all Health and Social Care (HSC) structures.
  • We aim to:
  • Enhance the ability of patients and Health care professionals to participate in and benefit from clinical research
  • Enhance the quality of clinical research undertaken within HSC
  • Improve the speed of delivering research outcomes
  • Enhance the regional coordination of clinical research across Trusts and academic organisations
  • Improve local integration of clinical research within HSC structures and services

Rare disease research is a new science four all three countries with in the United Kingdom England, Scotland, Wales, the Urddad-foundation felt it was only right to research how these other regions are looking at in the matter of research We were pleased to see that our other regions seem to be marching ahead with its plan we also noticed that there plans were very upbeat and no sing of tighten our belts or that they would take a second class or even third class system for their citizens

It seems that we feel that research for rare disease can be dealt with what we have here in Northern Ireland we would like to know how we have also looked on the website for (NIRCRN) and we have downloaded their mission statement on page 11 we find that rare diseases are not included on their statement we also looked at the Queens University web site it also does not claim any work on rare disease it claims it’s a research facility but of what? We would like to draw your attention to the downloaded copy below this paragraph

The abstract from the European Journal of Human Genetics

The development of tests for genetic susceptibility to common complex diseases has raised concerns. These concerns relate to evaluation of the scientific and clinical validity and utility of the tests, quality assurance of laboratories and testing services, advice and protection for the consumer and the appropriate regulatory and policy response. How these concerns are interpreted and addressed is an ongoing debate. If the possibility of using the discoveries from genomic science to improve health is to be realised without losing public confidence, then improvements in the evaluation and mechanisms for control of supply of tests may be as important as the science itself.

Urddad-Foundation feels that this new science is vital to help solve many conditions in relation to rare and ultra-rare diseases we must revise why we have a Strategy                                 by implementing a comprehensive approach to rare diseases

  • By developing appropriate public health policies
  • By increasing international cooperation in scientific research
  • By gaining and sharing scientific knowledge about all rare

        Diseases, not only the most “frequent” ones

  • By developing new diagnostic and therapeutic procedures
  • By raising public awareness
  • By facilitating the networking of patient groups to share

                                    Their experience and best practices

  • By supporting the most isolated patients and their parents to

Create new patient communities or patient groups

  • By providing comprehensive quality information to the rare

Disease community


                                              Patients without a Diagnosis


Urddad-Foundation we feel a Rare Disease Ultra Rare Disease and Patients without a diagnosis the need for such a unit in Northern Ireland is vital for patients to receive the same research facilities as the rest of the United Kingdom research rare diseases and ultra-rare diseases give the Health Service better facilities for also finding cures for other diseases like cancer, kidney disease, heart disease when we have read research on rare diseases and ultra-rare disease facilities they have found that they have found other cures for cancer that they might not have found in earlier research facilities they have also found that it is more cost effective doing test at the much higher scale of research. We also see so many children with the prospect of having no diagnosis at all. This is becoming a very serious problem also we see parents having to deal with children that they have been told that the doctors don’t know what is wrong with the child. The burden this puts on the parents is just heart breaking every parent wants to know if their child is sick and unwell they can take the child along to their GP or a hospital and find a doctor who can diagnose what is wrong with their child. Syndromes without a name are thought to be a genetic and 1in 25 babies in the UK have a genetic condition, about 50% of children undergoing genetic testing in the NHS may not get a diagnosis. The Urddad-Foundation feels that those 50% have families that are being torn apart mentally. What must it be like for those young families who have no sense of belonging to a community, they cannot go and speak to someone with the same condition? Life can be very isolating. Some families do not fit in at all

Urddad-Foundation knows just how important it is to give these families hope we know how hard it is for them and the child’s siblings having to explain to them that the doctors cannot fix their little brother or sister because they do not know what is wrong with them. The worry for the parents if they have other children will they be the same and it’s very hard to test for the likelihood of the same thing happening again. We feel that if having a rare disease and ultra-rare disease testing unit within Northern Ireland we would also be giving children who fall within this category hope, And also give the families peace of mind knowing that we in Northern Ireland have a research facility that is working to get them the one thing they want more than anything a Diagnosis.

The EU policy on Centres of Expertise


The commission Communication on Rare Diseases (2008) declared that *Member Stares share a common commitment to ensuring universal access to high quality health care on the basis of equity and solidarity in particular through identifying national and regional Centres of Expertise and that Centres of Expertise may also have an essential role in developing or facilitating specialised social services which will improve the quality of life of people living with a rare disease

In parallel, the Council Recommendation for Action in the field of rare diseases (2009)stated that The principle and overarching values of universality access to good quality care, equity and solidarity are of paramount importance for patients with rare diseases The council recommends that Member States identify appropriate Centres of Expertise throughout their territory by the End 2013 and consider supporting their creation In addition, it proposes to foster the participation of Centres of Expertise in European Reference Networks while respecting the national competences and rules, encourage a multidisciplinary approach to care of rare diseases, organise health care pathways for patients and support the use of information and communication technologies

The Definition of Centres of Expertise for Rare Diseases

A Centre of expertise for rare diseases (or a local network for rare diseases) is a centre (a network) that:


  • Specialises in a single rare disease or a group of rare diseases
  • Provides a multi-disciplinary approach with specialised competences
  • Manages multi-disciplinary care in coordinated manner
  • Offers a range of accurate services: consultation, medical, examinations specialised equipment, genetic counselling and access to social services
  • Participates in research protocols of diagnosis and care
  • Participates in drug clinical trials
  • Updates and increases its expertise
  • Provides guidelines on most appropriate care for diagnosis and treatments, integrating social and medical aspects
  • Engages into training of professionals
  • Disseminates information
  • Joins in European Reference Networks

Main Criteria to Identify Centres of Expertise


  • Professional qualification, both clinical and scientific experience, documented by publications, grants pre-existing accreditation
  • Commitment to cooperate and share information
  • Patient access to a multi-disciplinary team of experts
  • Reported volume of relevant activity
  • Coordination between professionals
  • A global approach integrating medical and social aspects
  • Participation in research activities at European and international level
  • Education, information and communication outreach activities with primary health care professionals and possibly the public
  • Training activities for healthcare professionals
  • Activities to involve patients and collaboration with patient organisations

The Definition of European Reference Networks for Rare Disease

A European Reference Network of Centres of Expertise is:



  • The structure for sharing knowledge and expertise amongst regional or national centres of expertise
  • Aiming at improving the overall quality and provision of care for one rare disease or a group of rare diseases
  • Providing added value to the existing services and expertise at a national level
  • Promoting sharing of expertise and mobility of experts rather than the mobility of patients
  • Permitting, facilitating the travelling of patients across borders to other centres when necessary
  • Guarantying that patients in every European country can benefit from a Reference Network, although centres of expertise are not necessary in every European country

Other Advantages of Centres of Expertise

Centres of expertise reduce health care costs by shortening diagnostic delays, by decreasing the waste due to misdiagnosis by reducing incorrect drug prescriptions or medical interventions, by decreasing the consequences of health debilitation, and by adapting care accurately to the needs of patients


NORTHERN IRELAND Links with another Member State Theme 6

Northern Ireland has to be included in this strategy and it must be fully behind the rest of the UK, it is far too important for our citizens not to have facilities on our door step for testing and developing new therapies in the advancement of finding cures for rare diseases. We cannot afford to be left out of these advances. We have to realise we do not know everything, we also have to realise that that we need outside help, Northern Ireland with its history of the “Troubles”  has not only destroyed lives of communities, business and our Health Services. The need to accept this and move on is vital.

Northern Ireland needs for its citizens and its children a health service the same if not better that the rest of the United Kingdom we cannot afford to get this wrong. If we do it will cost lives and if 75% of rare disease affects children then they will pay the price. The Health Service needs to make a Better Case for the citizens of Northern Ireland we cannot afford to be sitting in the back seats any longer.

NHS England said Northern Ireland was in a great position as it had a land border with another European Member the South of Ireland. We agree with this and should grasp with both hand hands. If it gives us more links to Health Care in the South of Ireland  the benefits it would bring to Northern Ireland Health Service More Hospitals, combined research, research facilities, It would cut patients travel time, patients would not have to travel to hospitals in England. Families would be able to visit a lot more and will mean they would not be under as much strain while trying to deal with a Diagnosis of a Rare Disease or an Ultra Rare Disease. If we don’t look at the possibilities of a linkage in some way then we feel that our citizens and our children will lose out.

Possible funding from Europe, we would ask the Northern Health Services if it has made enquiries into European Funding to set up such a link with the Southern Ireland Health Service. This is not about politics. It is about giving the best Health Service That we can achieve for our citizens Rare Disease Has No Borders.   How many more families will have to take their very sick little children all over the world to try and find a hospital that can treat their child? We also feel that Northern Ireland also has a unique opportunity to use the NHS Services in England but we feel that moving a child to a hospital in England is not an ideal situation. We have seen Children having to stay in Hospital for up to a year to enable the hospital to stabilise the child and even then hospital appointments after that means that the patient is getting two different care packages. We are looking at trying to keep the child in Ireland and to be treated in the nearest hospital if possible to their home as we want to see children being cared for in the North or South of Ireland.


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