Great News! NI’s RD Implementation Plan and Genomic Medicine Centre Announced

Minister Simon Hamilton today  announced a £3.3m investment into the creation of an innovative Northern Ireland Genomics Medicine Centre (NIGMC); and formally launched the Northern Ireland Rare Disease Implementation Plan: wonderful news for patients, carers, and clinicians living and working with rare disease!
Minister Hamilton said:
“The Plan embodies my commitment to implement the UK Rare Diseases Strategy in Northern Ireland. It provides a holistic approach to caring for people with a rare disease and to maximise the available resources for research, innovation and collaboration across the UK to benefit the entire rare disease community. The Plan also provides the opportunity to work with the Republic of Ireland to realise the mutual benefits of cross ­border collaboration on rare diseases.”

For everyone living and working with rare disease, this  commitment by the Minister brings hope, and an opportunity to participate in building a better future for all families living with a rare disease. It’s a superb new resource for the clinicians working to give their patients a diagnosis and improve understanding of their conditions. It gives a clear framework and impetus for work on  creating new pathways for treatment and management.

We’ve worked together (patients, families, elected reps, clinicians, managers, officials) to get the UK Strategy; the NI Plan; and the Genomic Medicine Centre.  We will keep working together, to reap the full benefits and provide better opportunities for all our young people and families into the future.

Rare disease and research – find out more

Rare Disease and Research

25th September, 2014


Postgraduate lecture theatre, Belfast City Hospital



Reception from 6pm, with food and drink

6.30 An introduction to the Rare Disease Plan  Christine Collins, NIRDP and HDANI

6.40 Huntington’s Disease  Majella McConville, HD Specialist Nurse

7.00 KEYNOTE  Why does research matter? Charles Sabine, international patient advocate

7.30 Research on a shoestring  Professor Patrick Morrison, Professor in Genetic Medicine, QUB

8.oo Rare disease research- the nuts and bolts!  Dr Amy Jayne McKnight, senior lecturer, QUB

8.15 Panel discussion, all speakers

8.30 End

To register attendance, please email, including any dietary requirements

This event is run by Huntington’s Disease Association NI, NIRDP and the Public Health Agency.

UK Rare Disease Strategy



The Northern Ireland Rare Disease Partnership welcomes the UK’s Rare Disease Strategy, and the commitment it gives to ensuring that no one gets left behind just because they have a rare disease.

How rare diseases, like Muscular Dystrophy, Huntington’s Disease, or Spina Bifida, are diagnosed, treated and managed, so that those affected can live their lives to the fullest possible extent, is important for all of us. Failures in the system lead to wasted resources and needless suffering.

The UK Rare Disease Strategy was developed with the involvement of Patient Groups, Clinicians, academics, and others: we in the Northern Ireland Rare Disease Partnership had a voice in the process. This approach is a step forward in empowering patients and families.

The Strategy provides that that the Northern Ireland Implementation Plan should set out tangible and achievable steps towards:

  • Empowering those affected by rare diseases
  • Identifying and preventing rare diseases
  • Improved diagnosis and prevention of rare diseases
  • Better co ordination of care; and
  • Improved research opportunities and translation of research into practical treatments.

We look forward to working with the DHSSPSNI and Health Authorities, and with colleagues across the UK, Ireland and further afield, to develop the Northern Ireland Implementation Plan, and to make it a reality.

The UK Rare Disease Strategy, signed by all 4 UK Health Ministers, was published on 22 November 2013. A copy of the Government Press Release is available on the Department of Health website

Minister Poots’ Statement will be available on DHSSPSNI’s website

Strategy Update

Our Strategic Plan is now finalised: and things are happening on the areas we identified as priorities! For example:


Rare Disease Plan

  • Along with RDUK we met DHSSPS officials recently, to build our relationship with the Department, and to find out how work is progressing on the Rare Disease Plan.  Hopefully, the consultation responses will be analysed and published by the end of the year, and the Final version of the Rare Disease Plan itself will be published sometime in the New Year.
  • In a friendly and constructive meeting, we stressed the importance of a Northern Ireland Implementation Plan, and of ensuring that important linkages such as for specialist commissioning, to the rest of the NHS (especially in England) are maintained and developed, and not “lost” in the welter of reforms currently under way.
  • We also outlined our plans for Rare Disease Day 2013 (28 February: a joint event with our counterparts in Dublin: put it in your Diaries now!) and asked for Ministerial participation on the day.

Paediatric Services Review

  • Dr Maura Briscoe, Director of Strategic Projects in the DHSSPS, has asked us to nominate a member to join the Expert Reference Group on the Paediatric Services Review, which has just started work.  The Review is looking at paediatric services for children aged 0-18 years; and is linked to the relevant Transforming Your Care recommendations on paediatrics.
  • At the moment, the Review is focussing on hospital and community services: that is, mainly acute paediatrics (both medicine and surgery), across all Trusts, and including the interface with community services.
  • It will also consider regional and supraregional paediatric services, and the management of paediatric transition and interface with adult services.
  • A separate project (phase 3) will commence shortly on paediatric palliative and end of life care.
  • The timescale for the completion of the Review is very tight; the aim is for a consultation document to be issued early in 2013.
  • This is an incredible opportunity to get our voice heard, and to influence the way these vital services are shaped.  We are putting together a group, led by Cathy McKillop, to make sure we make the best of it. Cathy will attend any meetings, disseminate questions/issues and collate information for input to the Expert Group.  So if you have an interest in and experience or knowledge of Paediatric Services, please get in touch.

Neurological Conditions Advisory Group

  • We (Janet Baillie, Eileen Bradley, Christine Collins) also participated in the initial meeting of the Neurological Conditions Advisory Group, (“NCAG”) held jointly by the Health and Social Care Board (HSCB) and the Public Health Agency (PHA).  This brought together clinicians, managers, and patient groups to consider how best to take forward the recommendations of the Neurological Conditions Engagement Exercise, particularly how to ensure top class commissioning for neurological conditions.
  • NCAG will provide resolved expert advice to the commissioning process: as a member, we will be able to get our voice heard in this vital process.  A Neurological Conditions Sub Group within the HSCB/PHA will be convening NCAG, hopefully soon. Watch this space: Christine Collins will attend meetings, disseminate questions/information and pull together our input to the process. So if you have an interest in and experience or knowledge of Neurological Conditions, please get in touch.

Experience of Diagnosis Report Recommendations:

  • We wrote to the PHA, and to the HSCB, following up on the Patient Client Council’s recommendations in the Experience of Diagnosis Report, suggesting that we might collaborate with on a piece of work.
  • To the PHA, we suggested collaborating to survey the rare disease experience of community-based care; we haven’t had a formal response yet, but the vibes are fairly positive.
  • To the HSCB, we suggested working together to develop a “Patient Pathway” concept for rare conditions, perhaps starting with Muscular Dystrophy as a guinea pig. This suggestion was warmly welcomed, and an initial meeting to define the work and agree the outline timetable has been held.  There are two aspects to the concept, one covering the investigative, pre-diagnosis phase, and the other the on going care management.  Fiona Stewart will lead on the investigative strand, and Amy Jayne McKnight and Janet Baillie will take the lead for the NIRDP on the on-going care management (including links to, for example, education and other areas) of this exciting project, drawing on existing work undertaken for example in Scotland. There will be a lot of work, so if you have an interest in and experience or knowledge of Patient Pathways, and would like to contribute or participate please contact; and keep an eye on the website, where key questions and developments will be posted.


A Rare Disease Training Day

  • Fiona Stewart and Alison Wilson have worked hard to develop an outline for a Rare Disease Training Day for junior doctors, as this is likely to be one of the recommendations in the Rare Disease Plan for all medical specialities.  The Training Day would include:
    • The role of patient support groups and advocacy.
    • Impact of rare disease on patients and their families;
    • Where to get high quality information on rare diseases;
    • Thinking of rare diseases and investigative strategies;
  • The Northern Ireland Medical and Dental Training Agency (NIMDTA) have been approached and are considering this proposal: we hope to be able to run the first Training Day, as a trial, in Spring 2013.

Patients and Carers input: Medical Student Training

  • Amy Jayne McKnight is liaising with one of the Lecturers in Medicine at Queen’s, to see if we can arrange for a slot in one of the first year undergraduate lectures, for a patient or carer to give their perspectives on what it means to be an “Expert” Patient or Carer.
  • We don’t want to traumatise the students with horror stories about difficulties accessing services etc. but this is a good opportunity to emphasise the doctor-patient “partnership”, where a patient or carer may know the best source of information, or the expert to contact for relevant medical information.  It will mean speaking for 10 minutes about their individual perspective, in a lecture theatre to the entire group of 1st year medical students: so it could be a bit scary… If you would be interested in knowing more about it, please get in touch.


The “How To” Group

  • Sarah McCandless, Doris Mason, Carol McCullough and others have started to put together a tool kit, to make it easier for members to tackle all kinds of activities: from how we communicate with each other to how we respond to consultations to how to hold successful events.
  • On improving how we communicate: we will be aiming to produce monthly Updates, starting at the end of January; and a Quarterly Newsletter; starting with a pre-Christmas one!  So if you have anything you would like to contribute (including dodgy jokes, quizzes, articles, stories …and of course news about what you have been up to… please get in touch.
  • On consultations: Carol has been moving mountains, with help from Lynda Gould and others, to enable us to respond constructively to consultations. There are lots of these, so we have to be selective, but we have so far put in responses, pointing up the rare disease issues to consultations from the Northern Ireland Children and Young Persons Strategic Partnership, on their Action Plans; from the Health and Social Care Trusts on their Disability Action Plans; and most recently from DHSSPS on it’s 10 year Strategy for Public Health – “Fit and Well”.  Without doubt, this could not have been done without a team effort!  If you are aware of any consultations, or would like to contribute to this effort, please get in touch.

Stronger Together


  • Thanks to Helen McClean’s dogged determination (you would think the Banks don’t want to have our money!) we now have our bank account!
  • We are progressing towards “recognition” as a Charity with HMRC; this means that we will be “deemed” to be registered with the Northern Ireland Charity Commission, which is not yet operational, too.
  • We are also looking at sources of funding: Grant applications (for example, to Awards for All or various Foundations) can be made once we are recognised by HMRC, and Richard Dixon has volunteered to contribute to this effort.  If anyone would like to help Richard with this important task, please get in touch.

Rare Disease Day 2013: 28 February

  • This year, we are organising Rare Disease Day, on 28 February, jointly with RDUK and with our counterparts in the Republic. The international theme is “rare disorders without borders”. In line with this theme, the conference will promote collaboration and innovative ways of working between the North and the Republic in the field of rare diseases.
  • It will also provide an opportunity for the DHSSPS and the Department of Health and Children in the Republic, to showcase the work that is being undertaken to develop national plans for rare diseases in accordance with the Council of the European Union’s Recommendation on an action in the field of rare diseases.
  • As the UK consultation document released in February recognised, there is a great deal of potential to develop networks with the Republic to provide sustainable models of service provision. The ways in which many charities and companies already work across the whole of the UK and Ireland provide tested models for such innovation, and we may find ways of showcasing this!
  • The conference will take place at the Wood Quay Venue in Dublin to coincide with the Irish Presidency of the European Council, which is fitting given the background to the development of national plans for rare diseases in the EU.

This is a collaborative event and we hope to secure representation from the Health Departments of both nations; and from people from all across Northern Ireland.

Stephen Nutt, Sarah McCandless and Fiona McLaughlin are taking the lead in organising this event from our side – so please get in touch if you would like to be involved or have ideas to make the Day truly memorable!