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.

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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
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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

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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:

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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.

TAKE THE SURVEY HERE

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: www.10000voices.info

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.

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