NORTHERN IRELAND RARE DISEASES IMPLEMENTATION PLAN – FOCUS WORKSHOP FOR HEALTHCARE PROFESSIONALS

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!

 

NI Rare Diseases Implementation Plan: work in progress!

At last, work is underway on all four of the Priority Actions in the NI Rare Diseases Implementation Plan:

  • The NI Genomic Medicine Centre is now established; staff are being recruited; and protocols for evaluation of the outcomes are being developed with NIRDP input;
  • Over the past month, NIRDP has  held well attended Communications and Information Review Workshops across Northern Ireland.  Thank you, to all those who came along and contributed so powerfully; and a special “Thank You” for their time and support to our speakers, Dr Fiona Stewart, Dr Vivienne McConnell, Dr Deidre Donnelly, and Dr Gillian Rea from the Regional Medical Genetics Service, to Ryan Wilson from the Department of Health, and to our Facilitator, Grace Henry.

The views and ideas from the Workshops are now being analysed; and will be added to the information from the Online Survey- which is still open.  So please go to the Survey, and make your voice count! The emerging findings will be considered in a Focus Workshop on 7 June: Register your interest in attending this event here

Work is now also starting on:

  • Scoping for a Rare Diseases Registry for Northern Ireland, looking at how to establish a Registry, including the need for information on congenital abnormalities, and for links to existing and developing information systems (such as the new English system, NCARDRS), whether in the UK, Ireland, or internationally; and
  • A Training Needs Analysis for doctors and other clinicians in rare diseases building on the existing presentations, delivered in part by NIRDP Members,  in year 1 and year 5 of the medical training course.

This work programme is being overseen by the Rare Diseases Implementation Plan Steering Group, led by Professor Ian Young,  Chief Scientific Adviser to the Department of Health.  The aim is to have a Report by Christmas; an “action research model” is being used, so wherever possible learning can be translated into practice without delay.

 

Joint North South Rare Disease Day 2017/Foyle and North West Rare Disease Forum

This year, we are celebrating Rare Disease Day on 28 February jointly with our counterparts in the South, The Rare Disease Taskforce- in the palatial surroundings of the Royal Hospital Kilmainham, from 9.45 to 4 pm: see the impressive Programme below.

Please Register here:

Meanwhile from 11.30 to 12.30  the Mayor of Derry, Alderman Hilary McClintock, kindly is hosting a Reception  in the gracious surroundings of the Whittaker Suite, Guildhall,Derry/Londonderry, to celebrate the Day! Everyone is welcome at this informal event, to hear about what is happening around research into rare disease, and how to have your say on improving the systems for preventing, treating and living with rare conditions.

Please register now to receive an invitation

The Programme for the Kilmainham event is here:

Joint North South Rare Disease Day Conference 28 February 2017

9.45am: Registration, Tea and Coffee

Theme 1:  Updates, Progress and Gaps

10.30am                    Welcome and opening remarks: Philip Watt, Chairperson, Rare Disease Taskforce

10.45am                    Opening Address: Mark Pollock

11.00am                    Update on progress on Rare Diseases in Northern Ireland: Professor Ian Young

11.20am                    Progress at a European level: Professor Eileen Treacy

11.40am: Tea/Coffee Break and Networking Opportunity

Theme 2: Accessing New and Innovative Medicines: The Needs and the Challenges  Chaired by: Derick Mitchell, IPPOSI

12.10pm Rare lung diseases – opportunities and challenges: Professor Gerry McElvaney

12.30pm A pharmacoeconomics perspective: Professor Michael Barry NCPE

12.50pm Patient group perspective: Michael Griffith and Dermot Devlin

13.10pm Discussion

 13.30pm: Lunch

Theme 3: The role of Genomics and Research in Rare Diseases  Chaired by: Fiona McLoughlin, Chairperson, NI Rare Disease Partnership

14.15pm 22Q11: A North/South patient group perspective: Gillian Cassidy and Anne Lawlor

14.35pm The Patient Journey – Living with a Genetic Diagnosis: Rose Kelly and Anne Lennon Bird

14:55pm The role and potential of genomics in tackling rare diseases: Dr Sean Ennis

15:15pm Cheryl Flanagan: Northern Ireland Genomic Medicine Centre

15.35pm Discussion

15.55pm Concluding Remarks: Avril Daly, GRDO

The National Rare Disease Office team will be on hand on the day to showcase the Orphanet system throughout the day.

Ataxia

Rare Disease “Research into Practice” Series
Ataxia: Translating Research into Practice
17 February 2017
Grosvenor Hall, Glengall Street, Belfast BT12 5AD

NIRDP has joined forces with Ataxia UK and with the support of the Public Health Agency’s Research and Development Division is bringing international experts in Ataxia together at a training Conference in the Grosvenor Hall, Belfast on 17 February.

The conference will be of relevance and interest to anyone living or working with Ataxia and other movement disorders; and to those interested in the hearing difficulties associated with Ataxia. Don’t miss this opportunity to hear from world leading clinicians on recent developments in the diagnosis and management of Ataxia; and from patients and carers on the experience of living with Ataxia.

Register now at the link below!

The event has been approved by the Federation of Royal Colleges of Physicians of the UK for 5 Category 1 (external) CPD Points.

9.00 Registration & Coffee
9.30 Welcome Christine Collins, Northern Ireland Rare Disease Partnership
9.35 Living with ataxia Clodagh Clerkin, Ataxia Ireland
9.45 Types of ataxia and their clinical care pathways Dr Petya Bogdanova-Mihaylova, Registrar, Tallaght Hospital, Dublin
10.15 The patient experience of diagnosis Alex Duncan, Ataxia UK
10.25 Diagnosis of inherited ataxias: recent developments in genetics research Professor Patrick Morrison, Consultant in clinical genetics, Belfast NHS Trust
11.00 Break
11.20 How to reach a diagnosis in the ataxias: a clinical perspective Professor Marios Hadjivassilliou, Professor of Neurology Sheffield Teaching Hospitals NHS Foundation Trust
12.05 Experiences of ataxia patients in Northern Ireland – results of a survey undertaken by Ataxia UK Sue Millman, CEO Ataxia UK
12.30 Speech therapy interventions in ataxia Professor Anja Lowit, Professor of Speech and Language Therapy, Strathclyde University
13.00 Lunch
14:15 Overview of Ataxia Medical Guidelines Dr Julie Greenfield, Head of Research, Ataxia UK
14:25 Hearing difficulties in people with ataxia and the use of FM hearing devices Dr Kai Uus, Reader in audiology, Manchester University
14:55 Ataxia Research: Latest developments in clinical studies Dr Julie Greenfield, Head of Research, Ataxia UK
15:25 Any remaining questions and closing remarks Sue Millman, CEO Ataxia UK
15.40 Close

Foyle and North West Rare Disease Forum

Foyle and North West Rare Disease Forum

Date: Saturday 10th December
Time: 2.00pm – 4.00pm
Venue: McCorkell Suite, City Hotel, Derry/Londonderry, BT48 7AS

The Foyle and North West Rare Disease Forum will be holding their next meeting at the City Hotel on the 10th December.

The group connects families living with rare disease in the region removing isolation and creating a shared forum for information exchange and mutual support.

Fiona McLaughlin, Chair of the NIRDP, and Christine Collins, former Chair and Board Member, will be there listen to the concerns of local members. They will also be updating us on engagement opportunities and current programmes that are informing service design and planning for future services.

Refreshments will be provided. Let us know if you have any special dietary requirements. Children welcome to attend with parents

Contact Sandra Campbell on 07512 880466 or sandra@nirdp.org.uk

AGM and Autumn Partnership Meeting

Our 4th AGM  will be held at 11.00 0n Thursday 20 October 2016 

at the Civil Service Sports Pavilion, Stormont, Upper Newtownards Road, Belfast BT4 3SU.

Registration,  tea/coffee and scones will be from 10.15.

After the AGM proceedings, we will welcome guests (including MLA’s and other elected representatives) to our Autumn Partnership Meeting, starting at 11.45  

The  Outline Programme is:

  • The importance of a diagnosis in rare diseases (Gillian Cassidy, 22Q Support Group);
  • Progress at the Northern Ireland Genomic Medicine Centre (Cheryl Flanagan, Project Manager)
  • Progress on the NI Rare Disease Implementation Plan
  • Developments in the reform of the Health and Social Care system

This will be followed by refreshments; and a chance to exchange news and views!

Please Register here for the AGM:

Please Register here for the Autumn Partnership Meeting only:

Rare Disease Day 2016 Patient Voice and Empowerment

Rare Disease Day 29 February is getting close!  Here are the full programmes for the Conference in Riddel Hall, and for the Reception in the Long Gallery at Stormont; follow the links in the post below to register NOW

The Conference is a unique opportunity to hear from Dr Michael McBride ,our Chief Medical Officer and from a range of patients, carers, and professionals about what is already happening; and to engage in developing what more could be done to make a difference to the lives of those affected by rare disease.

INTERNATIONAL RARE DISEASE DAY CONFERENCE: PATIENT VOICE AND EMPOWERMENT
10.00 to 10.30 Registration
10.30 to 10.35: Welcome – Christine Collins, Chair, NIRDP
10.35. to 10.45: Keynote Address: Rare Disease and HSC Transformation- Dr Michael McBride, Chief Medical Officer, Northern Ireland
10.45 to 11.20: Educating: Miriam Martin, SACA; Dr Mairead Corrigan, QUB; Michaela Hollywood, MDUK Trailblazers;
11.20 to 11.55: Advocating: Fiona McLaughlin PSPA NHS IQ Certificated Change Agent;  Noirin O’Neill, EUPATI Fellow; Sandra Campbell, NIRDP Foyle and North West Co ordinator; Carol McCullough, NIRDP Consultations Lead
11.55 to 12.30: Innovation: Alison Wilson, All Ireland Advocacy and Support Officer, MPS Society;Dr Breidge Boyle, UU; Julie Power, Vasculitis Ireland, EUPATI Fellow; Joanne Westwood, N.I. Neurological Care Advice Service
12.30 to 12.45: Round up of Panel Sessions: Reflections
13.00 to 13.45 Lunch: INFORMATION STANDS, INCLUDING RNIB; ACTION FOR HEARInG LOSS; 10K VOICES; AND PATIENT ORGANIZATIONS
13.45 to 14.00: NI Medical Genomic Centre Dr AJ McKnight, QUB
14.00 to 15.15: Seizing the opportunity “POLICY INTO PRACTICE” interactive workshop David Finegan, NIRDP
15.15 TO 15.30 : CONCLUSIONS AND CLOSE

The Long Gallery Reception is a chance to hear from Alastair Kent OBE, the Chair of the UK Rare Disease Forum, about the role of patients in driving and developing change; and to hear from Minister Simon Hamilton about his vision of the way ahead.

NIRDP International Rare Disease Day Reception at Stormont

17.00 to 17.30: Registration
17.30.to 17.45: Welcome and introduction: Kieran McCarthy, MLA; Dr Vivienne  McConnell, Clinical Lead for Medical Genetics

17.45 to 18.00: Alastair Kent OBE: The role of empowered patients in oversight

18.00 to 18.10: Minister Simon Hamilton MLA: Working together to provide high quality care for people with rare diseases
18.10-18.15: Thanks and Close: Christine Collins, Chair NIRDP
18.15 to 19.00: Photo Opportunities and Networking: Refreshments

See the post below to register! 

International Rare Disease Day 2016: Patient Voice & Empowerment

This year’s International Rare Disease Day Theme is “Patient Voice”; and we are making our contribution through three events:

First, on Wednesday 17th February, at 12.30 to 2pm, the launch of the Foyle and North West Rare Disease Forum, which will provide support and advocacy for people with rare diseases in the Northwest.  This will be held in the Dennis Desmond Boardroom, MDEC Building, Altnagelvin Hospital, Glenshane Road, Londonderry, BT47 6SB. 

Dr Fiona Stewart, MBE, Consultant in Medical Genetics with the Northern Ireland Regional Genetics Service, who runs the Genetics clinic in Altnagelvin Hospital, will give the introduction; and Sandra Campbell, who is the Forum Co ordinator, will explain how we hope the Forum will help support families, and engage positively in reshaping services for those with rare conditions.

As space is limited, please email emma@nirdp.org.uk if you would like to attend, or would like more information.

Second, on Monday 29 February, from 10.00 to 3.30pm, our International Rare Disease Day Conference: Patient Voice and Empowerment.  This is being held in Riddel Hall, 185 Stranmillis Rd, Belfast, Antrim BT9 5EE

The morning sessions will include a presentation from a leading health policy maker on developments in Northern Ireland; and feature panel discussions, on Education, Innovation and Advocacy, led by patients, family members, and patient advocates.

The afternoon session will be an interactive Workshop, “Policy into Practice” to bring forward practicable ideas for speeding up policy implementation following the production of Northern Ireland’s Rare Disease Implementation Plan, and producing tangible wide reaching change, including developing a Virtual Centre of Expertise for Rare Disease for Northern Ireland.

Register here:

Third, again on Monday 29 February, from 5pm – 7pm, Kieran McCarthy MLA is kindly hosting a Reception for NIRDP, in the Long Gallery in Parliament Buildings, Stormont, Belfast, BT4 3XX. This will give our members and MLA’s a welcome opportunity to meet, to discuss rare disease issues, to celebrate the progress that has been made in the past few years, and to look ahead, including a brief report from our Conference on enabling Patients and Families, who are “Experts by Experience” to contribute fully to the transformation process, working in partnership with policy makers and providers.

It is also our opportunity to showcase the publication of the first Report to Ministers from the UK Rare Disease Forum, the body charged by all four UK Health Ministers with monitoring progress on implementation of the UK Rare Disease Strategy.  We are especially fortunate that Forum Chair, Alastair Kent OBE, Chair of RDUK, will attend our Reception, and will speak on the role of the Patient Voice in taking forward work on rare disease.

Register here:

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.

NIRDP’s Newry Mourne and South Down Group Meeting 24 September

NIRDP’s Newry Mourne and South Down Group will meet this Thursday, 24 September, from 7pm to 9pm in the Mourne Country Hotel.

The Guest Speaker will be Geraldine Maguire, Assistant Director  from the Southern Trust; and we hope that it will be an informative and constructive meeting..we are stronger together!

Please contact Fionnuala, (e mail: bengie15@aol.com) for details..