The Back Story

In March 2011, a group of organisations representing people with various rare diseases, representatives of the Northern Ireland Regional Medical Genetics Service, Rare Disease UK (RDUK), and individuals living with rare conditions got together, to see if there was sufficient common ground, need, and benefit in working together.

The Patient Client Council supported this initiative; and worked actively and supportively with us.  DHSSPS also contributed to this initial thinking.

We identified a need and a will to work together.

We also identified 6 priority areas for action:

  • Lobbying
  • Support for families
  • Education
  • Access to Specialists
  • Co-ordination of Services
  • Organisational Development

Since then, we’ve held regular, well attended meetings of the full group, and we are working on the priority areas:

  • Lobbying and Support for Families- “Advocacy”
    • Working closely with RDUK, we met MLA’s from across the parties  to inform them of Rare Disease issues and to ask for their support in the debate when the UK-wide Rare Disease Plan is published for consultation.   We will build these key relationships so that Rare Disease issues are taken fully into account in changes to Health and Social Care
    • With RDUK, we met senior officials from DHSSPS to discuss the approach to the Rare Disease Plan from a Northern Ireland point of view, and responded to various DHSSPS consultations.  We are developing these relationships, working to become trusted advocates on Rare Disease policy issues
  • Education
    • In October 2011, we held a joint Training Conference with the Royal College of Nursing in Belfast, led by Specialist Nurses for Motor Neurone Disease; Progressive Supra Nuclear Palsy and Huntington’s Disease.  This was very well received, and a second Conference was held on 6 March 2012 in Strabane, bringing information and support to those working directly with patients and their carers.  Having demonstrated the value of such interventions, we want to establish a regular programme, covering more conditions, and extending to provide training to carers and patients.
    • We have established initial contacts with some key stakeholders in medical training, and are working to develop these further, to improve initial training and awareness of Rare Disease issues amongst medical and health and social care professionals
  • Co-ordination of Services and Access to Specialists  “Innovation” 
    • We have extended the network of organisations and individuals involved in the Partnership, including with organisations involved in providing information and support for those living with Rare Diseases, research and production of specialist medicines, academic researchers, and counterparts from the Republic of Ireland
    • Working with the PCC, we have contributed to the development of the Questionnaire on the Experience of Diagnosis; and ensured its take up through our networks, with over 130 responses in a three week period running up to Christmas 2011
    • We have begun work on the difficult and complex process mapping of the systems of diagnosis, treatment and care, to identify good practice and areas for improvement.
  • Organisational Development
    • We have become incorporated as a Company Limited by Guarantee, and we are recognised by HMRC as a Charity
    • We are establishing sound governance procedures, with advice from NICVA and other experts, to ensure that we are fully accountable and transparent in all that we do.