Patient Voice: Join Us in Making the Voice of Rare Diseases Heard

29 February 2016

Rare Disease Day

‘Patient Voice: join us in making the voice of rare diseases heard’

Riddel Hall

Queen’s University

185 Stranmillis Road,

BELFAST

BT9 5EE

2016 marks the ninth year that the international rare disease community celebrates Rare Disease Day.

On 29 February 2016, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.

The Rare Disease Day 2016 theme ‘Patient Voice’ recognises the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.

Patients and patient advocates use their voice to bring about change that:

• Ensures that politicians continuously and increasingly acknowledge rare diseases as a public health policy priority at both national and international levels.
• Increases and improves rare disease research and orphan drug development.
• Achieves equal access to quality treatment and care at local, national and European levels, as well as earlier and better diagnosis of rare diseases.
• Supports the development and implementation ofnational plans and policies for rare diseasesin a number of countries.
• Helps to reduce isolation sometimes felt by people living with a rare disease and their families.

Rare Disease Day amplifies the voice of rare disease patients so that it is heard all over the world.

The patient voice:

• Is stronger when patients receive training so that patient advocates are equipped with the skills and information that they need to be able to represent the patient voice at the local, national and international level, within and on behalf of their patient organisations.
• Is vital because rare disease patients are experts in their disease. In situations when there is often a lack of medical expertise or disease knowledge because a disease is so rare, patients develop expertise on treatment and care options. With this expertise, the voice of a rare disease patient is often more inherent to the decision-making process regarding their treatment or care options.
• Is increasingly present and respected in the medicines regulatory process, during which patients bring real-life perspective to the discussion. This voice needs to be encouraged to become stronger all along the life cycle of the R&D process, from the early stages of development of a medicine, right through to when the medicine is in use in a wider population of patients. This will help to ensure that medicines are developed more efficiently and in turn will result in patients accessing more, better and cheaper treatments at an earlier stage.

Programme

10.00 TO 10.30 REGISTRATION

10.30-10.35 Welcome: Christine Collins, Chair, NIRDP

10.35-10.45Keynote Address: Dr. Michael McBride, “Rare Disease and HSC Transformation”

PANEL SESSIONS: The Patient Voice

10.45-11.20Educating: Dr.Mairead Corrigan, Miriam Martin, Michaela Holywood

11.20-11.55Advocating:Fiona McLaughlin, Nóirín O’Neill, Sandra Campbell, Carol McCullough

11.55 -12.30Innovating: Dr. Breidge Boyle, Alison Wilson, Julie Power, Joanne Westwood

12.30- 12.45Roundup of Panel Sessions

13.45- 14.00 NI Genomic Centre & Rare Disease Dr AJ McKnight

14.00-15.15Seizing the Opportunity-Policy into Practice: Interactive Workshop

David Finnegan

Speaker Biographies

Doctor Michael McBride
/ Dr Michael McBride was appointed to the post of Chief Medical Officer for the Department of Health, Social Services and Public Safety in September 2006, at a time of significant change for Health and Social Care in Northern Ireland. His CMO responsibilities include Policy and Strategy in relation to Public Health, Quality and Safety and Research and Development. He also provides strategic advice to Minister and other Government departments on health related matters.
Prior to this, he was Medical Director at the Royal Group of Hospitals from August 2002, contributing to strategic change at trust, regional and national level. As the Trust lead for clinical and social cares governance, he had responsibilities for all aspects of clinical quality and patient safety.
In 2014, at the request of the Health Minister Dr McBride took up the post of Chief Executive of Belfast Health and Social Services Trust, combining this role with Chief Medical Officer. As Chief Executive, Dr McBride heads an integrated health and social care Trust which is a corporate parent to more than 700 looked after children, and provides hospital-based and social care services to the population of Belfast, as well as most of Northern Ireland’s regional specialist services. He has responsibility for key Ministerial priorities, corporate responsibility for the Trust’s 20,000 employees, and oversees the Trust’s annual budget of almost £1.3bn.
Dr McBride graduated with Distinction from Queen’s University Belfast in 1986 and completed his undergraduate and postgraduate training in Northern Ireland. In 1991 he attained a Research Fellowship at St Mary’s Medical School and Imperial College London, where he carried out research into new drug treatments for HIV. Dr McBride was appointed Consultant Physician in HIV medicine at the Royal Group of Hospitals in 1994.
He has a longstanding interest in continuing medical education and was Postgraduate Clinical Tutor in the Royal Group of Hospitals between 1996 and 2000 and Director of Education in the Royal Hospitals from 2000.
Christine Collins
/ Christine retired from the Civil Service in 2005 and since this time has immersed herself in the world of human rights, equality and advocacy; with a particular focus on those living with disability and/or rare disease. She is a Commissioner at the Northern Ireland Human Rights Commission; Chair of the Northern Ireland Rare Disease Partnership; and a Patient Public Voice representative onthe UK Rare DiseaseAdvisoryGroup.
Christine has been involved in rare disease for many years and is actively involved in the development and implementation of both the UK Strategy and the Northern Ireland RD plans.
Dr. Mairead Corrigan
/ I am a Lecturer in Medical Education at Queen’s University Belfast (QUB) specialising in the teaching of sociology to undergraduate medical students.
As Academic Lead for Phase 2 of the undergraduate curriculum, I am responsible for managing and ensuring the delivery of modules in the spring semester of first year and all of second year. I am also the Lead for the reflective portfolio in year 1. I am Lead for Multicultural Medicine in the Centre for Medical Education, meaning that I am responsible for promoting the horizontal and vertical integration of diversity issues throughout the five years of the undergraduate curriculum.
My research interests include qualitative research methods, diversity and assessment.
Prior to my employment at QUB in the School of Medicine first as a Research Fellow and then as Lecturer, I worked as a Research Fellow in the Department of Dental Public Health King’s College London.
Miriam Martin
/ After being diagnosed with Syringomyelia, a rare neurological disorder in 1992, I later became involved with the NI support group, and am now chair of the Syringomyelia Arnold Chiari Association. I have strong links with similar charities in the UK and ROI.
I am an active member of the NI Rare Disease Partnership and the NI Neurological Charities Alliance.
I completed the HSC Leading in Partnership programme in 2014.
My daughter is also receiving treatment for rare auto immune neurological disorder since 2014 which is unrelated to my Rare Disease.
In my spare time I enjoy reading crime novels and drinking copious amounts of peppermint tea!
Michaela Hollywood
/ Michaela Hollywood is a 25 year old Ulster University graduate and has been involved in campaigning for better services for disabled people since she was 17.
Having recently started work with Muscular Dystrophy UK as a Trailblazers Campaigns Officer, Michaela is driven by the social model of disability in all of her work, and believes medicine empowers achievement. Through her work with various patient and professional organisations, Michaela presses for societal change which benefits both disabled and nondisabled individuals, whether it be medicine or social life.
Michaela obtained her undergraduate degree in Public Relations in July 2014 and graduated from her Masters in Communication and Public Relations, specialising in political lobbying in December 2015.
Michaela’s work for disabled people, allied health professionals and her fundraising was most recently recognised by the BBC World Service and the Prime Minister.
Carol McCullough
/ Carol McCullough, who lives in Armagh, is a patient volunteer. She has chronic kidney disease with transplant replacement therapy and in more recent years has been diagnosed with late-onset Wilson’s disease and three inflammatory conditions.
Following her transplant in 1987 she worked for sixteen years in the health service.
She is a NIRDP Director, has been NIRDP’s Consultation Lead since 2012 and gained experience through involvement in PPI groups.
Carol is a strong advocate for the EASL and AASLD Wilson’s disease clinical practice guidelines and presents a Wilson’s disease banner and literature at events in Northern Ireland.
She has a degree in Social Policy, an ILM Level 3 Award in Leadership and Management (HSCB/ PCC Leading in Partnership); and a Certificate in The Genomic Era: The Future of Genetics in Medicine.
Her main interests are person centred care, the diagnostic challenges and inequalities of rare disease, multi-morbidity and cultural change.
Fiona McLaughlin
/ Fiona volunteers for the PSP Association and Northern Ireland Rare Disease Partnership (NIRDP), of which she was a founding Director.
Her interest in healthcare provision developed after her late mother was diagnosed with the rare neurological condition Progressive Supranuclear Palsy. Amongst other things, Fiona learned about isolation, connection, the power of asking questions, and of being asked.
Fiona is Chair of the Neurological Conditions user/ carer reference group, a member of the DHSSPS AHP Regional Implementation Board, and a member of the PCC ME/Fibro Steering Group. She contributes to medical education courses at QUB.
Fiona completed the HSCB/PCC patient leadership course ‘Leading in Partnership’ and has been recognised as a ‘certificated change agent’ by NHS IQ.
Fiona has been living with M.E. since 2006. She experiences fatigue and pain, but is most frustrated by the cognitive problems.
Nóirín O’Neill
/ Nóirín is a survivor of APL, a rare, acute, form of leukemia. She is a solicitor based in Sligo, specializing in medical negligence. She is a EUPATI fellow
Sandra Campbell
/ In 2000 my late father was diagnosed with PSP, Progressive Supranuclear Palsy. At this time, 3 families in Northern Ireland were registered with the PSP Association and I became a Volunteer Support Group Coordinator. This involved organising Support Group meetings in Belfast, and later in Dublin, to bring families together for mutual support and information exchange.
In 2005 I was invited to join the Advocacy and Support Team with PSPA , developing the role through advocacy, awareness and education across NI and ROI. I worked with PSPA for the following 6 years until the post became redundant.
Until 2014 I worked for Shine as Support Worker covering the Western Health Trust region. This role involved supporting individuals and parents of children with Spina Bifida and Hydrocephalus and advocacy was a major function of this post.
I am now a lecturer in Early Years and Special Needs, at North West Regional College.
Alison Wilson
/ Alison Wilson is the All Ireland Advocacy and Support Officer for the Society for Mucopolysaccharide Diseases and the UK Gauchers Association. Her background is in Genetics and she has a specialist interest in Lysosomal Storage Disorders. She has a Bachelors Degree in Genetics from Queens University in Belfast and a Masters Degree in Genetic Counseling from Cardiff University.
Alison is based in the Northern Ireland Regional Genetics Service (Belfast City Hospital). Her primary role is to provide an advocacy and support service for Mucopolysaccharide, Fabry and Gaucher Disease patients. She also provides a clinic coordinator service and genetic counseling to these families.
Alison is on the Rare Disease UK and Northern Ireland Rare Disease Partnership management committees and is currently actively involved in developing rare disease education modules for healthcare professionals.
Dr Breidge Boyle
/ Breidge is a Research Associate- Epidemiology in the Institute of Nursing and Health Research, Ulster University.
She qualified as a Registered General Nurse from Altnagelvin Hospital in 1983 and as a Registered Sick Children’s Nurse from Great Ormond Street Hospital For Children in 1987. Breidge worked in Paediatric and Neonatal Intensive Care throughout her career. She was the first Advanced Nurse Practitioner at Great Ormond Street Hospital and was involved in the education of nurses taking on advanced practice roles. She was Lead Nurse for Neonates in the North Central London Network.
Since achieving a PhD in perinatal epidemiology Breidge has worked at Ulster University as part of EUROCAT and EUROmediCAT; researching congenital anomaly using data from Congenital anomaly Registries throughout Europe. She also lectures in Children’s Nursing at South Bank University in London.
Julie Power
/ Founder and Chairperson of Vasculitis Ireland Awareness, an all Ireland support group.
Member, NIRDP Board of Directors.
Patient representative in pilot 2 year NI Vasculitis service.
Fellow of the European Patients Academy (2015)
Involved in volunteering for Vasculitis Foundation and Vasculitis UK, Irish Rare Kidney Disease Registry Steering Committee, VINE (Vasculitis Ireland Network),
Prior to diagnosis, I had 17 years experience working as an Occupational Therapist specialising in Neurology and Palliative Care.
In 2005 I was diagnosed with Wegener’s GranulomatosisVasculitis, a rare, incurable, systemic disease. Treatment involves the use of toxic drugs with substantial side effects which in turn need managed, with unknown long term effects. The uncertainty and isolation I experienced on my journey fuelled my interest in raising awareness, improving care and research. I believe knowledge is power and that patient involvement throughout the entire treatment and research process is mutually beneficial to the researchers, clinicians and patients.
Joanne Westwood
/ As the recently appointed Neurological Care Coordinator for the Neurological Care Advice Service in Northern Ireland, I am delighted to be part of the International Rare Diseases Day, 2016. The Neurological Care Advice Service is a newly established service which provides information, support and advice for patients with neurological conditions, across the region. It is our role to help guide patients, their families and carers through the health, social & voluntary services and to help them access the most appropriate services for them. I look forward to working with many of you in the development of this new, innovative and exciting service for Northern Ireland.
Dr AJ McKnight
/ AJ has a keen interest improving the lives of those living with rare diseases, in particular improving diagnosis and care pathways.
Her research laboratories are embedded within NI’s Regional Genetics Centre and she is the rare disease research lead for the recently funded NI Genomic Medicine Centre.
She is also a director of the NI Rare Disease Partnership, helped develop the NI rare disease implementation plan, and is part of the Northern Ireland Rare Disease Implementation Group.
AJ’s research team primarily use state-of-the-art tools to identify genomic risk factors for human diseases, plus investigate how each person’s genes interact with their environment.
Data is derived from individuals recruited as part of multi-centre clinical collections and we participate in multiple mega-consortia projects, including developing and evaluating approaches for data integration from diverse sources.
Whole exome sequencing, whole genome sequencing,RNA-seq and ChIP-Seq for rare and complex disorders, plus bacterial whole genome sequencing are regularly performed. Whole genome sequencing of >1,000 individuals for rare diseases is underway as part of the NI Genomic Medicine Centre with the planned complementary development of an online information hub and patient-centred pathways. We hold several registries and are actively engaged in making maximal use of complex genomic information.”
David Finegan
/ David is a director of the Northern Ireland Rare Disease Partnership. He is a former Senior Civil Servant in the Northern Ireland Civil Service. He has worked across a number of Departments, including DHSSPS, where he was Director of Modernisation in 2002 – 2004 during the consultation and decisions around Developing Better Services.
David left the NICS in 2006 and joined PwC working in their public sector team in NI, and as part of PwC’s Health Industries team in GB. David left PwC in August 2014 and works as an independent consultant and trainer.
He is an Associate of the HSC Leadership Centre, and Associate member of the NHS Confederation in Northern Ireland (NICON)
David has a particular interest in collaborative multi stakeholder co-design of complex services
David is also a trustee of Many Hopes, a charity providing homes, education and employment for homeless and abused children and young adults in Kenya.

We are a partnership of those living with a rare disease; organisations representing them; health professionals; science and industry; health policy makers and academics. Our membership includes people with over 30 different rare conditions ranging from the very rare to relatively well-recognised conditions such as Motor Neurone Disease, Spina Bifida, or Muscular Dystrophy. While each individual condition is rare, these are not minority issues.

• A disease is “rare” if it affects fewer than 5 people per 10,000.
• There are over 6,000 rare diseases, with others being defined all the time.
• One in 17 people is likely to be affected by a rare disease at some point in their life; that is over 100,000 people in Northern Ireland (approximately the population of Derry/Londonderry.)

Collectively, rare diseases are not “rare”.