Who knows what in rare disease? Engagement, information and communication

As part of the work on the NI Rare Disease Plan, NIRDP has been running a series of Workshops across Northern Ireland, and an Online Survey, to identify information needs in relation to rare disease issues; what information is currently available and what information people would like to help them live or work with rare conditions.

On 7 June, a workshop chaired by Professor Ian Young, the Chief Scientific Officer and Chair of the NI Rare Disease Implementation Group,  heard about progress in genetics, presented by Dr Tabib Dabir, Clinical Lead, NI Regional Medical Genetics Service (and member of NIRDP’s Board)  and in metabolics, presented by Dr Clodagh Loughrey, Consultant Chemical Pathologist and Clinical Director Laboratories, BHSCT.

It’s clear from these presentations that the pathway to diagnosis, and the options available for management and treatment of complex and rare conditions, will soon alter dramatically.  Indeed some changes are already happening, with an individual’s genetic make up helping to determine the best course of treatment in some cases. It’s essential that we think through how to make best use of these advances!

Participants then considered the emerging findings from the Workshops and the Survey, presented by Dr Jane Miller, Research Fellow at the NI Genomic Medicine Centre  and NIRDP Chair Fiona McLaughlin, before working in five groups to validate and  consider how progress could be made on the key areas identified in the Workshops and in the Survey.

Suggestions for improving information and communications

  • Develop care pathways / flow charts / support plans / signposting.
  • Have one ‘go to person’ who co-ordinates care and information sharing between those involved in care:  “Care navigators” to support patients, families, and clinicians.
  • Develop a hub / portal for accessing information for medics, other professionals and people with a rare condition/disease.
  • Develop referral routes to support groups, or to other people with the same condition, from the point of diagnosis.
  • Look and take learning from other models e.g. Cancer Care; Maternity Care (where mothers hold information in The Red Book) Downs Syndrome etc.

There were many valuable suggestions, and much learning across the whole group- for example, about the proposed introduction of the SNOMED coding system across both primary and secondary care; and planned technological developments within Health & Social Care.  Also, locally based training for patients, along the lines of the EUPATI modules some of our members are already familiar with, is hopefully to become available.

We are still processing all the information that emerged; and planning follow up through a virtual working group to take forward the ideas in more detail.

Further details to follow- watch this space!

And if you haven’t already done so, please complete the Survey and get your family and health care colleagues to do so too …

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 ImpPlan@nirdp.org.uk  chat to us on Facebook or twitter and/or respond to the DHSSPS directly at RDIP@dhsspni.gov.uk

We are looking  forward to seeing you!

All The Busy

The summer holidays are still in full swing, but the NIRDP volunteers are keeping as busy as ever.

Some have been in Whitehall, involved in the development of the UK Rare Disease Plan. The Plan still needs a lot of work, but we also hope to be involved in the development of the NI implementation plan- turning the UK policy into something that works here in Northern Ireland.

We are meeting with Minister Poots on 22 August to discuss progress on the UK Plan, and our vision for the NI implementation plan, including cross border aspects.

We are developing an engagement exercise survey to capture the reality of living with a rare disease in NI. This is being carried out in partnership with the Public Health Agency and the Health and Social Care Board, so that needs can be understood and service delivery informed. The survey will be run during the autumn, and will be a chance to ensure commissioners understand the real impact of rare disease on an individual and the family.

Members in the North Down constituency meet with Jim Shannon, MP, in July. Mr Shannon has been supportive of rare disease issues, and is proposing a Westminster Hall debate on the UK Plan. Westminster Hall debates are 30 minute or an hour debates on an issue raised by an MP- a Minister responds and others can say things too. The more MPs show interest and support for this, the better- so please contact your MP and ask them to support Jim’s initiative. Any UK charities/support groups, add your weight nationally!

We are planning an event for the Long Gallery in Stormont on Monday 13 January– a chance to launch the results of the survey, and give all the support organisations/ charities  a chance to be there and connect with MLAs. we can use this to show that ‘rare’ doesn’t mean ‘small’ or ‘unimportant’!

And then there’s the initial planning for Rare Disease Day 2014! We’ll be holding this event in Riddel Hall on 28 February, and the focus will be on person centred care. Save the date!!

All of the work of NIRDP is carried out by volunteers, and we are stretched. Do you, or any of your family, friends, colleagues, have skills, experience or time that you could share with us? We have a lot of work to do if we are to develop a sustainable organisation to continue to advocate, educate and innovate on behalf of those with rare disease in NI. Please contact us if you’d like to get involved – we need you.