EURORDIS Rare Disease & Rare Cancers Survey


EURORDIS, through its Rare Barometer programme, has launched a new survey on rare diseases/ rare cancers patients’ experience of treatment. The purpose is to highlight unmet treatment needs.

The results of the survey can be very useful for the advocacy work that EURORDIS do in the field of rare cancers and would complement other survey’s results you may have completed for the organisation before.

EURORDIS have a team of professional researchers, specialised in surveys, who shall be able to conduct a thorough analysis of the responses received.

The survey is available in 23 languages and is intended for patients, their family members and carers. All responses are anonymous and will be kept in secure storage only accessible to their research team.

The survey shall take about 10 minutes to complete:

EURORDIS would like to reach out to all who are affected and ask them to please answer this survey and disseminate it widely to anyone else that you know who may also be affected.

The more results that the EURORDIS team are able to gather the more they shall be able to sort results by:

–       Age group (paediatric cancers vs rare cancers in adult)

–       Countries (or maybe just Western Europe vs Eastern Europe)

–       Type of cancers (or maybe just haematological malignancies vs rare solid tumours)

Please also note that the research team shall be able to come up with tailored infographics, based on our request and needs.

The survey is open until 30 April.



This is to provide more information on the Focus Workshop, aimed primarily at Healthcare professionals, which is being held from 4pm to 7pm on 7 June, in the Grosvenor Hall, Glengall Street, Belfast BT15 5AD.

The Focus Workshop builds on the Workshops held across Northern Ireland during March and April. It will consider the findings and recommendations from those Workshops; and agree priorities for action.  It will also focus on identifying existing information and communication channels used by clinicians and other healthcare professionals working with rare diseases; and consider how these might be improved.

Please register now to attend; and also complete the Survey to ensure that your voice is heard!


Communication and Information Review: Have your say, and make the NI Rare Disease Plan work!

Northern Ireland Rare Diseases Implementation Plan

As part of the Plan we are working with the Department of Health and the HSC bodies to carry out a Communications and Information Review; and on the basis of the evidence gathered, to make and implement recommendations for improvements to current systems.

The Review will provide both face to face and online/paper opportunities to participate; so please make full use of all the opportunities there are- your knowledge and experience is needed to build a better system!

We are starting by holding a series of interactive Workshops (see dates/times/venues below) facilitated by Grace Henry, designed to find out:

  • what information you need to help you tackle the challenges of a rare disease- whether you are a person living with a rare disease, a carer, a health professional, or a policy maker or service manager;
  • how that information should be made available; and
  • how you would like to participate in designing, delivering and evaluating services for rare diseases

These Workshops will give you an opportunity to hear about what is happening on the NI Rare Disease Plan (including on the NI Genomic Medicine Centre; the NI Rare Disease Registry; and medical education) and to have your say  in shaping how you will be included and involved in planning, decision making, and evaluating services.  It’s your chance to describe the information that is available, and how you get it; what is missing;   and to define the information and support you need- and how it should be delivered.

Workshop Outline Agenda:

  • What are Rare Diseases? Consultant in Genetics, Regional Medical Genetics Service
  • The Rare Disease Plan and the HSC: Department of Health Official, Secondary Care Directorate
  • What information is there/What do you need/How should it be delivered: Questionnaire and Facilitated Discussion Groups; Grace Henry


  • 16 March 15.00 to 17.00 Conference Room, Portadown Health and Care Centre, Tavanagh Avenue, Portadown BT62 3BU
    Eventbrite - Communications Workshop 2 Have Your Say: Make the Rare Disease Plan work!
  • 22 March 16.00 to 19.00 Larkin Room. Post Graduate Medical Centre, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB
    Eventbrite - Communications Workshop 3 Have Your Say: Make the Rare Disease Plan work!
  • 27 March 12.30 to 14.30 Mulberry Suite, Corrs Corner Hotel, 315 Ballyclare Rd, Newtownabbey, BT36 4TQ
    Eventbrite - Communications Workshop 4  Have your say: Make the Rare Diseases Plan Work!
  • 4 April 15.00 to 17.00 Boardroom, South West Acute Hospital, 124 Irvinestown Rd, Enniskillen BT74 6DN
    Eventbrite - Communications Workshop 5 Have Your Say: Make the Rare Disease Plan Work!

Online Survey

Please comment on Facebook or through Twitter – we are planning a Tweetchat soon; but it would be good to meet up face to face, and share views, ideas and experiences!

Connecting  Advocating  Educating and Innovating

Stronger Together

Making our voices heard

We know that if something isn’t counted, it doesn’t count… And we all want to use our experiences and our knowledge to make positive change happen in our health and social care system.  So we are working to make sure that the voices of rare disease patients and families – and the voices of their carers, whether that is family, friends, clinicians, social care professionals – are gathered, and reported so that those voices count.

We are running our own short survey at the moment – and the response has been great! Spread the word and get more responses in so we can have a report ready to publish in the autumn.


In addition, we are working with the Public Health Agency’s 10,000 Voices Programme to make sure that their surveys can capture and report the experiences of rare disease patients and families.

There are two surveys currently running:

  • Out of hours GP and emergency care; and
  • the experience of contact with the health and social care system.

Both can be accessed through the 10,000 Voices website:

It would be good if as many people as possible can complete these surveys: the 10,000 Voices Team have facilitators who can help; and are keen to work with us to ensure that the experiences of rare disease patients and families are heard.

Call to Action: Health and Social Care (Control of Data Processing) Bill

The NI Assembly is currently scrutinising the Health and Social Care (Control of Data Processing) Bill. If the Bill is approved and made law, it will regulate and safeguard the processing of information about patients.

Why is this Bill important?

We need this change in the law! Without it,  information about patients in Northern Ireland cannot be collected and  studied. So we won’t have reliable information,which is essential for planning and delivering health and social care services. This means our services are not evidence-based, and can’t be benchmarked against those available in other parts of the UK and wider afield. We have no way of knowing if our patients are getting high quality care or how well carers are being supported. We cannot identify where improvements are needed and what action can be taken to remedy gaps in services.

Without the new legislation, people in Northern Ireland can’t participate in many research projects, or access trials of new treatments that are available in other parts of the UK.

Without it, difficulties in accurately identifying who could benefit from new treatments in Northern Ireland as they become available will continue.

The new legislation will also allow us to create the much needed Rare Disease Registry to evaluate and facilitate high quality care and services.

It is vital that our MLAs know important this legislation is for everyone in Northern Ireland, especially to those living with rare disease.

What you can do

Please email your MLAs and ask them to support the Bill.

There’s a draft letter you can use below; and more information about the Bill.

You can find out who your MLAs are here

And their email addresses here

If you have any problems get in touch with with your postcode and she’ll send you the contact details of your MLAs

Let others know: get your family and friends involved too!

Join our Facebook page, follow us on Twitter @ni_rdp and share our message.


Draft Letter:

Dear [Name of MLA]


I am writing to ask you to support this Bill. I am [explain who you are, e.g. parent, carer, someone living with a rare disease, friend/ family member of someone with a rare disease].

One of the biggest problems our health and social care services face when trying to help people with rare diseases is the lack of accurate information. For example, who has them, how many people are affected, and what works well in treating and caring for them?

This lack of information makes planning impossible, and means that every family and every patient has to make an individual case for what they need. This is exhausting for families, and wasteful and inefficient for the authorities. Without the new legislation, information cannot be gathered, analysed, and used for planning our services.

The Bill would also help advance much needed research into rare diseases and help develop new treatments. Because each rare disease affects so few people, all the information that can be gathered from across the world needs to be shared as widely as possible. Unfortunately, at present, because we in Northern Ireland don’t have statutory regulation of our patient information, other countries won’t accept our information, and we can’t join international efforts to understand or treat rare diseases, or share in their benefits, such as medical trials.

We are delighted that this Bill has been brought forward. It contains strong protections, and allows information to be used for the benefit of all.

Please support the Bill in the Assembly; if you would like further information please contact the Northern Ireland Rare Disease Partnership at

Yours Sincerely

[Your Name]

[Your Address]

The Detail: the Health and Social Care (Control of Data Processing) Bill: A Significant step Towards Better Health.

The Health and Social Care (Control of Data Processing) Bill is essential to:

  • Eliminate current uncertainty surrounding use of patient/client information other than for the direct care of the individual concerned.
  • Enable organisations carrying out vital research to improve quality and equality in health and social care to do so without facing risk of legal action due to the current uncertain position on sharing patient/client identifiable information in Northern Ireland.
  • Introduce safeguards and a robust framework for sharing of user identifiable information to enable better health and social care provision without mistakenly compromising patient/client confidentiality.
  • Enable a collaborative approach to sharing of information, avoiding duplication and reducing cost.
  • Inform assessment, diagnosis, and treatment and care of patients/clients.
  • Help address the challenges the Northern Ireland community and health service face with increasingly complex health and social care needs, through enabling better understanding of comorbidities/multi morbidities/ rare disease and related specialist and palliative care needs and approaches.
  • Underpin and regulate the development and use of structured registries; including development of genetic registers*.
  • Develop genuinely evidence based commissioning, service planning and service delivery in Northern Ireland- inclusive of drawing on the benefits of Northern Ireland’s integrated health and social care system, strengthening the whole systems approach to care of the individual, and supporting epidemiology studies that enable continuous advancement in Northern Ireland’s “Knowledge Economy”, and improvement in population health strategy.
  • Enable NI’s participation in UK, R.o.I and international research and development, and therefore reap the medical, social and economic benefits of Northern Ireland’s unique opportunities in the field of research.
  • Enable Northern Ireland to achieve international best practice standards in health and social care.
  • Ultimately, reduce inequalities and provide high quality health and social care.
  • *Development of genetic registers, which this legislation would help, would also facilitate increased genetic counselling for family members which impacts on long term health and reduction in morbidity and mortality, and would be supported by the Northern Ireland Regional Genetics Service (NIRGS).


Rare Disease and Use of Identifiable User Information

Rare diseases occur relatively frequently within the Northern Irish population, yet they are poorly understood at a population level, and the scale of their impact is not possible to assess; leading to poor planning and service provision.

Coordinated information collection on their incidence is not currently happening due to:

  • A lack of technological infrastructure to collect information on  individual genetic conditions.
  • It is important particularly for rare diseases that information is collected as comprehensive as possible: when searching for needles in haystacks it is important to have as much of the haystack to search through as possible. This is why the non-consent model is extremely important to the rare disease community and to improving our understanding of rare diseases.

Improved information and understanding will lead to better

  • Diagnostics services;
  • Opportunities to optimise potential for improved treatments and management plans;
  • Population plans and allocation of services;
  • Safer services for patients.


All this will also reduce Emergency Department and unscheduled admissions; and help achieve the vision of Transforming Your Care- the right treatment, in the right place, at the right time.

There are also broader and very significant benefits to Northern Ireland flowing from the ability to use data in improving our knowledge of rare disease.

  • 100K Genomes is a UK wide project aiming to sequence 100,000 whole genomes from cancer and rare disease patients by 2017.The ambition is that the project will make the NHS the most scientifically advanced healthcare system in the world. Rare disease is now at the forefront of science and research, innovation and progress. Once this legislation is in place Northern Ireland is well placed to be part of this revolution in health care. Northern Ireland with its close connections and tradition of world class excellence in health issues is unique, and could play a valuable role in tackling cancers and rare diseases; so increasing understanding of all health conditions. However, the legislation is needed for access to UK, European, and worldwide projects. Changes are also needed to ensure that funding is available to enable individuals in Northern Ireland to have equal access to testing for genetic disorders including those offered through the UK GTN or (for very rare disorders) those offered overseas. Ideally, funding would develop high through put sequencing locally, building Northern Ireland’s Knowledge Economy, improving population health, and providing high quality careers for our young people, and opportunities for our local industry.

Better understanding of rare disease is not only important to the very significant group of people in Northern Ireland living with rare conditions. It is the key to understanding more common conditions. A growing body of evidence shows that rare disease research can yield important insight into more common conditions. Rare diseases are often more extreme and have a more straightforward aetiology than their common counterparts, and therefore provide models of disease that are easier to study. Research on fundamental diseases can yield important insight into the pathogenesis of more common diseases, lead to the development of block-buster drugs, and can even explain how certain genetic mutations have become so common in today’s population.

The value of truly understanding how rare diseases affect our population is tremendous. The Health and Social Care (Control of Data Processing) Bill is essential to allow data collection and analysis, and to enable that understanding to be developed.

Access to Specialist Drugs – Share your Opinion!

NIRDP are glad to share information about a series of DHSSPS consultation events. Access to specialist drugs is vital. What do you think of the recommendations below? Can you attend a meeting and get your voice heard?


Announcement of Public meetings for Individual Funding Request Evaluation

Health Minister Jim Wells commissioned an evaluation of the Individual Funding Request (IFR) process.

Minister Wells said: “Whether you are a patient, a carer, a member of Health and Social Care staff or just interested in our Health Services then this is an opportunity to have your opinions considered.”

The evaluation was in response to concerns that the process was not providing access to specialist drugs that are not routinely available in circumstances where there is an agreed clinical need.

The evaluation is complete and five recommendations have been published which aim to strengthen the process and improve access to specialist drugs not routinely available.

The recommendations are as follows:

· That the existing exceptionality criteria should be amended to remove the reference to 95%.
· That the establishment of regional scrutiny committees should be considered to ensure all IFR applications are subject to regionally consistent clinical input and peer review.
· That the existing IFR guidance should be revised to include greater transparency and to enhance patient involvement.
· That the Department should establish a Specialist Medicines Fund to meet the costs of administering and maintaining increased access to specialist drugs.
· In order to resource the new fund, the HSC should re-introduce charging for prescriptions.

The Minister invited everyone with an interest to attend their local meeting: “Public meetings have been organised to provide an opportunity for public discussion of the proposed changes. I would encourage anyone interested in the evaluation and its purpose to come along and have an opportunity to add your views and comments into the process.”

The Public Meetings will take place from 7- 8.30 pm at a number of venues across Northern Ireland as listed below:

· 24 March 2015 Lecture Room 1, Altnagelvin Area Hospital, Glenshane Road, Londonderry BT47 6SB

· 31 March 2015 Lakeview 2, Craigavon Civic Centre, Lakeview Road, Craigavon BT64 1AL

· 13 April 2015 The Chestnut Suite, Lagan Valley Island Civic Centre, Lisburn BT27 4RL

· 21 April 2015 Antrim Civic Centre, 50 Stiles Way, Antrim BT41 2UB

· 28 April 2015 Belfast City Hospital, 51 Lisburn Road, Belfast BT9 7AB


1.Whilst registration is not compulsory, to assist with catering arrangements it would be helpful if you could register your intention to attend by emailing us at

or post to:
Secondary Care Directorate
Castle Building

Implementation Plan Consultation: Open Meetings

The Open Meetings on the Draft Rare Disease Implementation Plan are ongoing:

6 January 2015: Lecture Theatre, Level 2, South West Acute Hospital, 124 Irvinestown Road, Enniskillen Co Fermanagh, BT74 6DN, 3.30pm to 5.30 pm

7 January 2015: Mourne Country Hotel, 52 Belfast Road, Newry, Co Down BT34 1TR, 7pm to 9 pm

8 January 2015: Conference Room, Portadown Health and Social Services Centre, Tavanagh Avenue, Portadown, BT62 3BU, 2pm to 4pm

12 January 2015: Whinstone Suite, Antrim Civic Centre, 50 Stiles Way, Antrim, BT41 2UB, 1pm to 4 pm

13 January 2015: Lecture Theatre, Block A, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, 2pm to 5pm PLEASE NOTE: NEW TIME!!

This is your chance:

  • to listen to what is in the Plan; ( )
  •  to have your say, about what matters to you- whether it’s in relation to a health or social care aspect of living or working with a rare disease, or how having a rare condition impacts on education, transport, work, or housing.

Whether you are a patient, a carer, a member of Health and Social Care staff, or anyone whose work involves tackling the challenges of rare disease, this is your opportunity to shape the future; and to make a difference.

Please register through eventbrite,  so we know numbers/needs for catering; and so that we can make sure there is enough reserved parking for disabled access etc.   But if you don’t register, you will still be very welcome!

Let’s talk about the plan

NIRDP are pleased to announce that we will be coordinating a series of open meetings across the region for consideration of the draft NI Rare Disease implementation plan.

The meetings are open to all, and are being held in association with senior clinicians, experienced in a range of rare diseases. They are an opportunity to meet others interested in rare disease, and to share experiences and thoughts on the development of services until 2020.

What matters to you?


Date Place Time Senior Clinician Venue
17 Dec 2014 Gransha Londonderry 2pm – 4pm Dr Stewart Board Room, Gransha
6 Jan 2015 Swah, Enniskillen 2pm – 4pm Dr McConnell TBC
7 Jan 2015 Newry TBC TBC TBC
8 Jan 2015 Craigavon Area Hospital 2pm – 4pm Dr McConnell Dr Magee Conference Room, Portadown Care and Treatment Centre
12 Jan 2015 Antrim 2pm to 4pm Dr Stewart Whinstone Suite, Antrim Civic Forum
13 Jan 2015 Belfast 4pm – 7pm Dr Deidre Donnelly, Dr Shane McKee, Dr Tabib Dabir Science Block A, RVH


The Department wants “to ensure that feedback from service users and carers underpins the identification of the commissioning priorities for rare diseases.” These open meetings are one way of being involved in that process.

We will be putting each event up on Eventbrite- so that you can tell us if you are planning to come, and we can get the tea/coffee and biscuit orders right (or anything else you need to make the event work for you!)

We will also be producing a key points guide to the draft Plan- so you can focus more easily on what matters to you…so watch the website…

You can also email  chat to us on Facebook or twitter and/or respond to the DHSSPS directly at

We are looking  forward to seeing you!

DHSSPS Consultation – your input is needed!


Following publication of the UK Strategy for Rare Diseases in November 2013, all four UK countries agreed to develop an implementation plan or high level strategies, relevant to their respective jurisdiction, to deliver the 51 commitments by 2020. This strategy aims to ensure that people living with a rare disease have access to the best care and treatment that health and social services and relevant partners can provide.

The Department of Health, Social Services and Public Safety (DHSSPS) published a Statement of Intent in June 2014 which set out the Department’s approach to delivering the 51 commitments in Northern Ireland.

DHSSPS in association with members of the NI Rare Diseases Stakeholder Group (NIRDSG) have now developed the draft Northern Ireland Rare Diseases Implementation Plan. It sets out in detail how the Department proposes to deliver the 51 commitments, in partnership with the wider Health and Social Care system in Northern Ireland.

NIRDP wants to hear from you. Please send your comments / responses to

For further details see

Northern Ireland Statement of Intent Published!

DHSSPSNI have today published the Northern Ireland Statement of Intent, setting out how work to implement the 51 commitments contained in the UK Rare Disease Strategy will be taken forward in Northern Ireland.

The Statement of Intent establishes a Northern Ireland Rare Disease Stakeholder Group which will steer the development of the Northern Ireland Rare Disease Implementation Plan, to be published for consultation this summer.

Read the Statement of Intent, see the 51 Commitments, and see who is involved in the Stakeholder Group here:

This is a welcome step forward in the long process of making a real difference for all those living with with rare disease in Northern Ireland.  We are looking forward to the draft Implementation Plan; and we will be making sure your views are gathered and represented in developing the final Plan.

Keep in touch through this website; and make your voice heard, by sending your views to: