Rare Disease Day

Rare Disease Day

  • Introduction to International Rare Disease Day Conference 

    On 28 February 2017, Philip Watt in his role as CEO of Cystic Fibrosis Ireland, Chairperson of MRCG and a member of the Rare Disease Taskforce, opened the International Rare Disease Day Conference in the Royal Hospital, Kilmainham, Dublin. Below is his introduction speech from that morning.

     

    It is estimated that there are over 6-7,000 rare diseases in existence worldwide affecting 6-8 per cent of the population of Ireland North and South and affecting up to 300,000 children and adults. 

    That means that one person in 12 in Ireland may have a rare disease, with 70-80 per cent of rare diseases genetic in origin. 

    On behalf of the Rare Disease Taskforce and the Northern Ireland Rare Disease Partnership welcome to the third north/south seminar to celebrate Rare Disease Day. It is very heartening to see the growing support for this important day and I really want to welcome those who have travelled distances to be with us today, especially those that caught the early morning train from Belfast to Dublin. I especially want to welcome the Chairperson of the NI Rare Disease Partnership, Ms Fiona McLoughlin. 

    International Rare Disease Day is held annually on Feb. 28th with a mission to educate the general public; to advance research; to improve services and to ensure equality and fairness in accessing new and innovative therapies. 

    A rare disease is carefully defined by the European Union as a long-term or a fatal disease that impacts on less than 1 in 2000 people. 

    30 or 40 years ago there was little that could be done for most children with rare diseases and many died before being old enough to go to primary school.  

    However, thanks to major advances in medical research and better health services, there is increasing hope for many patients that their disease will be diagnosed and an effective treatment will be found, particularly because of advances in genomics and personalised medicines. 

    The European Union has to be congratulated for playing a leading role in pushing for urgent action on rare disease. President Obama also made a point of introducing a raft of progressive polices on rare diseases and related research right up to the final days of his Presidency that once again demonstrates the deep humanity of an outstanding political leader. 

    There are three key themes running through our proceedings today, the first of these is National Rare Disease Plans. In this context I want to welcome Professor Ian Young who will be giving us an update on the NI Rare Disease Plan this morning. 

    Minister for Health Simon Harris is not with us today because of a cabinet meeting but he sends his strong personal support for today’s conference. However, we are delighted that Professor Eileen Treacy will be joining us later to give an update from a European perspective, including Orphanet and European Reference Networks (ERN’s). 

    It is great to see the work being undertaken by the National Clinical Programme on Rare Diseases led by Eileen and the on-going work of the National Office for Rare Diseases, two of the most important outcomes from Ireland’s National Rare Disease Plan (NRDP). The interim report from Ireland’s NRDP is now available on the Department of Health website. 

    One of the key messages from today is to call on the Irish Government to give greater resources for these two vital initiatives. One small example of the work of Eileen and the NCP is a focus on the better transitioning of young people with rare diseases from a pediatric hospital to an adult hospital. 

    The importance of this transition is often overlooked and needs to be carefully and sensitively planned. Above all we need to listen carefully to the voices of those young patients who have experienced this sometimes difficult transition. 

    We acknowledge all those who continue to be involved in the rare Disease Taskforce especially those involved directly in the monitoring of the NPRD who are Avril Daly; John McCormack; Tony Heffernan, Derick Mitchell and Philip Watt. 

    While there is much to acknowledge in respect of progress, we cannot gloss over the major challenges that face us, some of which we will be addressing in today’s seminar.  

    The first of these challenges is access to new and innovative drug therapies. 

    There is a worldwide debate on access to and the high cost of new and innovative drugs for those with rare diseases. For the first time drugs are becoming available for rare diseases. 

    Some recent examples that have been much in the news in Ireland are:

    • Respreeza for patients with Alpha one

    • Translarna for patients with Muscular Dystrophy (Duchenne) 

    • Orkambi for patients with Cystic Fibrosis. 

    • Patients with Cystinosis are also anxious about access to a new drug therapy which needs to go through the Health Technology Assessment Process. 

    Some of the questions that are being highlighted in the present debate include: 

    • Will drugs for rare diseases get past the present system of assessing drugs in the UK and Ireland or do we have to consider changing the assessment process?

    • How can we ensure we are getting good value for money from international pharma companies who are developing new drugs?

    • How can we better support research for new drugs in Ireland North and South?

     

    The second major challenge for discussion today is support for Clinical Genetic services and Genomics in Ireland

    Clinical genetic services are vital for the diagnosis and treatment of those with rare diseases. Investment in genomics today will lead to more breakthroughs or better treatments for those with a rare disease, perhaps even cures. But: 

    What can we do in the south to reduce the lengthening waiting lists for those waiting for genetic services in Crumlin Hospital?

    As of the end of January, according to the National Treatment Purchase Fund, there were 1,412 patients on out-patient waiting lists for clinical genetic consultants at Our Lady's Children's Hospital Crumlin and Temple Street Children's University Hospital, of which 225 were waiting more than 18 months. 

    There are exciting new investments in Genomics in Northern Ireland and by industry in the Republic of Ireland – The potential of these new developments will be the focus of this afternoon’s session. 

     

    Then there is the elephant in the room that is Brexit.

    • What will be the impact on health in Ireland north and south when the UK leaves the European Union?

    • Will those with rare conditions in Ireland still be able to access services in the UK and vice versa, including as part of the treatment purchase scheme?

    • Will the UK government pick up the tab for health research that is currently provided by the European Union?

    • What will happen to Rare Disease Plans in the UK including Northern Ireland and what will there be a knock on effect for the Republic of Ireland?

    • Are the respective governments in Dublin, Belfast and Westminster commissioning any joint research on the impact of Brexit on health? 

     

    I hope you will enjoy today’s conference and whether you are from a patient group, pharmaceutical company, health service or if you involved as a researcher or in policy making role. On behalf of the Rare Disease Taskforce, we hope that you come away empowered from today and with a sense that despite all the challenges there is also much hope. 

     

     

  • Joint North South Rare Disease Conference

    Rare Disease Day takes place on the last day of February each year to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

    To celebrate International Rare Disease Day, on Monday March 5th a Joint North South Rare Disease Conference will take place in Riddel Hall, Belfast. The Joint North South Rare Disease Conference 2018 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

    The following is the opening speech delivered by Philip Watt, Chair of the Rare Disease Task Force; Chair of the Medical Research Charities Group and CEO of Cystic Fibrosis Ireland on the occasion of the North/South Rare Disease Conference, 5 March 2018 in Belfast.

    Good morning everyone. Thanks to everyone who made it today, especially for those of you had to overcome an added level of adversity due to the combination of disability, health and weather.

    I am very proud to be here today as a member of the Rare Disease Taskforce to be part of International Rare Disease Day.

    Our key message today remains ‘If you or a loved one has a rare disease, you are not alone’.

    We hope that today will in time be seen as an important step on the long and often desperate journey for equal rights for people with rare diseases in Ireland, North and South.

    Today we are once again in Belfast as we were in 2017 in Dublin to renew both important friendships and joint working that has been feature of patient groups on the island of Ireland. I particularly would like to acknowledge our friendship with Fiona McLoughlin and the NIRDP. We also take this opportunity to congratulate Christine Collins who was recognised in the 2018 New Year’s honors list for her work on rare diseases in Northern Ireland over many years.

    My name is Philip Watt and my presence here today is as Chairperson of the rare disease taskforce, where I represent the Medical Research Charities Group and Cystic Fibrosis Ireland where I work. The Task Force is also inclusive of Rare Disease Ireland and IPPOSI and the Irish Platform for Patients, Science and Industry

    This taskforce, established 6 years ago, has brought together patient groups and key stakeholders from industry, academia and clinical services who have shared a vision of a better deal for people with rare disease and their families.

    For too long many parents in Ireland North and South have had to cope with a sick child with a rare disease but with little information as to what the disease is, let alone where they might find treatment.

    For too long GP’s have been frustrated by being unsure where the best center of expertise is to treat a particular rare disease.

    For too long there has been an insufficient sharing of health resources North and South on our small Island. There had been some signs of change in cooperation in respect of children’s heart surgery, lung transplants and cataract operations for example.

    In recent years there have also been several important rare disease health research partnerships North and South that were funded through EU programmes such as Horizon 20/20.

    We urge that these beginnings of cooperation and joint research projects will not be up-scuttled or side-tracked by Brexit and the continuing lack of an administration in Northern Ireland. These are very worrying times for patient groups on both sides of the border.

    I am delighted to see the support of the Northern Ireland Human Rights Commission for today’s conference. The participation of Chief Commissioner Les Allamby sends out an important message on both the importance of PPI- Public and Patient Involvement in health policy and the need to locate rare diseases more robustly within a human rights and equality framework.

    In this context, we take this opportunity for the Minister for Health responsible for disability in the South, Finnian McGrath TD, to ensure that Ireland fulfils its oft repeated promise to ratify the UN Convention on the Rights of Disabilities that was signed by Ireland in 2007.

    A key part if this convention (article 19) is concerned with the ambition for Independent Living for all adults living with a disability or chronic disease. Ireland remains the only county in Europe not to have ratified this vital Convention, which sends out poor message nationally and internationally.

    In organizing today’s conference we once again draw attention and celebrate the fantastic work of rare disease patient groups in Ireland North and South.

    There are some 7,000 rare diseases in Ireland

    The fortunate few – perhaps around 30 or 40 - have a patient group to represent them.

    Many patient groups are reliant on volunteers or one or 2 staff members at most. They are understaffed and overworked but they do an amazing job. In many cases they are run by the mothers or fathers of someone with a rare disease. Please show your appreciation for the work of these voluntary groups.

    Today we also call on the Irish and British government to bring in urgently needed reforms to make drug therapies for those with a rare disease more accessible in Ireland North and South. For example, it is very unfair that the border can decide your access to a ground-breaking life enhancing drug. For example, the decision by the Irish government to approve the Cystic Fibrosis Drug Orkambi is in stark contrast to the British Government which continues to deny this vital drug to England, Scotland, Wales and Northern Ireland. Vice-versa the decision of Stormont to approve the drug Translarna for those with Muscular Dystrophy Duchenne is in stark contrast to the Irish Government which continues denies this drug to two patients.

    Today we also take this opportunity to call on the British and Irish Governments for better support for health research and clinical genetic services that have such an impact on people living with a rare disease. Clinicians and researchers on the island of Ireland have been increasingly been involved in fantastic research focused on rare diseases – this work must continue to be fostered in spite of recent political challenges. 

    Today as we enter the final year of the of the operation of the existing rare disease plans north and south we acknowledge progress to date but we also call for the many remaining promises in these plans to be fully implemented and we call for second plans to be developed, including a focus on North/South and East/West sharing of the limited existing resources for those living with a rare disease.

    Finally we call on both the Irish and the British Governments to tackle the often unstated or unintended carelessly though through mindset that ‘it is better to treat the many rather than the few’. For example - that it is better to give a million people a new drug at a lower price than provide funding for an expensive rare disease drug.

    We say again today ‘We must continue to treat the many and the few equally’ and to do otherwise is a breach of human rights.

    Philip Watt
    Chairperson Rare Disease Taskforce

    Medical Research Charities Group (MRCG)
    CEO Cystic Fibrosis Ireland.

    For live updates on the conference follow us on Twitter: @CF_Ireland

  • Joint North-South Rare Disease Conference

    To celebrate International Rare Disease Day (28th February 2018), a Joint North-South Rare Disease Conference took place in Riddel Hall, Belfast on Monday 5th March 2018. The Conference offered participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

    The following is the opening speech delivered by Philip Watt, Chair of the Rare Disease Task Force; Chair of the Medical Research Charities Group and CEO of Cystic Fibrosis Ireland on the occasion of the North/South Rare Disease Conference, 5 March 2018 in Belfast.

    Good morning everyone. Thanks to everyone who made it today, especially for those of you had to overcome an added level of adversity due to the combination of disability, health and weather.

    I am very proud to be here today as a member of the Rare Disease Taskforce to be part of International Rare Disease Day.

    Our key message today remains ‘If you or a loved one has a rare disease, you are not alone’.

    We hope that today will in time be seen as an important step on the long and often desperate journey for equal rights for people with rare diseases in Ireland, North and South.

    Today we are once again in Belfast as we were in 2017 in Dublin to renew both important friendships and joint working that has been feature of patient groups on the island of Ireland. I particularly would like to acknowledge our friendship with Fiona McLoughlin and the NIRDP. We also take this opportunity to congratulate Christine Collins who was recognised in the 2018 New Year’s honors list for her work on rare diseases in Northern Ireland over many years.

    My name is Philip Watt and my presence here today is as Chairperson of the rare disease taskforce, where I represent the Medical Research Charities Group and Cystic Fibrosis Ireland where I work. The Task Force is also inclusive of Rare Disease Ireland and IPPOSI and the Irish Platform for Patients, Science and Industry

    This taskforce, established 6 years ago, has brought together patient groups and key stakeholders from industry, academia and clinical services who have shared a vision of a better deal for people with rare disease and their families.

    For too long many parents in Ireland North and South have had to cope with a sick child with a rare disease but with little information as to what the disease is, let alone where they might find treatment.

    For too long GP’s have been frustrated by being unsure where the best center of expertise is to treat a particular rare disease.

    For too long there has been an insufficient sharing of health resources North and South on our small Island. There had been some signs of change in cooperation in respect of children’s heart surgery, lung transplants and cataract operations for example.

    In recent years there have also been several important rare disease health research partnerships North and South that were funded through EU programmes such as Horizon 20/20.

    We urge that these beginnings of cooperation and joint research projects will not be up-scuttled or side-tracked by Brexit and the continuing lack of an administration in Northern Ireland. These are very worrying times for patient groups on both sides of the border.

    I am delighted to see the support of the Northern Ireland Human Rights Commission for today’s conference. The participation of Chief Commissioner Les Allamby sends out an important message on both the importance of PPI- Public and Patient Involvement in health policy and the need to locate rare diseases more robustly within a human rights and equality framework.

    In this context, we take this opportunity for the Minister for Health responsible for disability in the South, Finnian McGrath TD, to ensure that Ireland fulfils its oft repeated promise to ratify the UN Convention on the Rights of Disabilities that was signed by Ireland in 2007.

    A key part if this convention (article 19) is concerned with the ambition for Independent Living for all adults living with a disability or chronic disease. Ireland remains the only county in Europe not to have ratified this vital Convention, which sends out poor message nationally and internationally.

    In organizing today’s conference we once again draw attention and celebrate the fantastic work of rare disease patient groups in Ireland North and South.

    There are some 7,000 rare diseases in Ireland

    The fortunate few – perhaps around 30 or 40 - have a patient group to represent them.

    Many patient groups are reliant on volunteers or one or 2 staff members at most. They are understaffed and overworked but they do an amazing job. In many cases they are run by the mothers or fathers of someone with a rare disease. Please show your appreciation for the work of these voluntary groups.

    Today we also call on the Irish and British government to bring in urgently needed reforms to make drug therapies for those with a rare disease more accessible in Ireland North and South. For example, it is very unfair that the border can decide your access to a ground-breaking life enhancing drug. For example, the decision by the Irish government to approve the Cystic Fibrosis Drug Orkambi is in stark contrast to the British Government which continues to deny this vital drug to England, Scotland, Wales and Northern Ireland. Vice-versa the decision of Stormont to approve the drug Translarna for those with Muscular Dystrophy Duchenne is in stark contrast to the Irish Government which continues denies this drug to two patients.

    Today we also take this opportunity to call on the British and Irish Governments for better support for health research and clinical genetic services that have such an impact on people living with a rare disease. Clinicians and researchers on the island of Ireland have been increasingly been involved in fantastic research focused on rare diseases – this work must continue to be fostered in spite of recent political challenges. 

    Today as we enter the final year of the of the operation of the existing rare disease plans north and south we acknowledge progress to date but we also call for the many remaining promises in these plans to be fully implemented and we call for second plans to be developed, including a focus on North/South and East/West sharing of the limited existing resources for those living with a rare disease.

    Finally we call on both the Irish and the British Governments to tackle the often unstated or unintended carelessly though through mindset that ‘it is better to treat the many rather than the few’. For example - that it is better to give a million people a new drug at a lower price than provide funding for an expensive rare disease drug.

    We say again today ‘We must continue to treat the many and the few equally’ and to do otherwise is a breach of human rights.

    Philip Watt
    Chairperson Rare Disease Taskforce

    Medical Research Charities Group (MRCG)
    CEO Cystic Fibrosis Ireland.

     

  • Rare Disease Day 2019

    To mark the 12th annual World Rare Disease Day, Rare Diseases Ireland, on behalf of the Rare Disease Day 2019 Organising Committee, are holding a National Conference for Patients & Families “Bridging Health & Social Care”. Taking place on in CA House, Pearse Street, Dublin 2, the conference will highlight the importance of joined-up hospital, primary care and community services for people with rare diseases.

    Among the topics under discussion will be:

    • patient experiences of health and social care services
    • best practices in delivering co-ordinated services to patients
    • the current state of rare disease plans North and South.

    Rare diseases can be chronically-debilitating, progressive and life-threatening, and so the conference will hear directly from patients and patient organisations facing the challenges of living with, and caring for, people with rare diseases on a daily basis. There will also be contributions from speakers responsible for public policy and integrated care in the area.

    What Europe Can Do for You
    Avril Daly, Vice-President of EURORDIS-Rare Diseases Europe, is urging people living with rare diseases who want to find out more about diagnosis and treatments, to ask their doctor about newly-developed European Reference Networks:
    “People living with rare diseases and their families can often feel isolated and alone. They may have been searching for a diagnosis for years. They may have been passed from pillar to post, and subject to a battery of tests and investigations. They may even have been misdiagnosed. All the while they continue to live with the impact of the disease, disrupting their quality of life and leaving them worried and frustrated.

    “However, the recent development of European Reference Networks, or ERNs, is a game-changer for people with rare diseases. For the first time, doctors in Ireland will be able to convene a virtual panel of medical experts from across the EU who can review medical information and test results, agree on a diagnosis, suggest treatments and advise on clinical trials taking place. I would strongly encourage patients who continue to seek a diagnosis for a condition they have, or who want to know more about treatments or clinical trials relevant to them, to ask their doctor about ERNs and if they are eligible. While many ERNs are not integrated into the Irish healthcare system yet, we expect that this will change over the coming year. No longer will your medical team be confined to these shores. Your doctor will soon be able to access expertise across Europe.”

    Vicky McGrath, CEO of Rare Diseases Ireland, believes the conference will offer important insights in informing the development of a new national rare disease plan:
    “Ireland’s first national rare disease plan was for a period of five years and concluded on December 31 last without a new plan to take its place. The focus of this year’s conference is on bridging health and social care and addressing the gaps between medical, social and support services. This conference offers a unique opportunity to inform Government and policy-makers of the importance of better connecting and co-ordinating our health and social care services for people with rare diseases and their families. The burden of rare diseases is enormous, and relatively simple steps like co-ordinating care and social services will go some way to help lighten this load.”

    Rare Diseases – did you know:

    1. A rare disease is defined as rare when it affects fewer than one in 2,000 people. Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient with the same disease.
    2. It is estimated that rare diseases affect the lives of around 30 million people across the European Union (EU), with approximately 300,000 people in Ireland developing a rare disease at some point in their lives. Relatively common symptoms can hide underlying rare diseases, leaving many affected individuals as either undiagnosed or misdiagnosed.
    3. There are more than 6,000 known rare diseases. 80% of rare diseases have identified genetic origins whilst others are the result of bacterial or viral infections, allergies and environmental causes, or are degenerative and proliferative.
    4. Approximately five per cent of rare diseases have treatments, and often the best and only treatment option is to access a clinical trial. There is no cure for the majority of rare diseases.

    According to the first ever Europe-wide survey on juggling care and daily life with a rare disease conducted by EURORDIS-Rare Diseases Europe via its Rare Barometer Voices platform (May 2017)1, 8 in 10 patients and carers have difficulties completing daily tasks (household chores, preparing meals, shopping etc.). A total of 30% of carers spend more than six hours per day helping the person with a rare disease. Over 95% of primary carers are family members with the overwhelming majority being women. Seven in ten patients and carers had to reduce or stop their professional activity due to their, or their family member’s, rare disease. There is a significant mental health burden with people with rare diseases and their carers being three times more likely to feel unhappy and depressed compared to the general population. 

    For more information on the work of Rare Diseases Ireland visit www.rdi.ie 

    ENDS

    About Rare Diseases Ireland

    Rare Diseases Ireland (RDI) is a patient advocacy national alliance for voluntary groups representing people affected by, or at risk of, developing a rare disease. RDI is committed to the identification, treatment, and cure of rare disease through programmes of education, advocacy and patient services. For more information, visit www.rdi.ie

    About the Rare Disease Day 2019 Organising Committee
    The organising committee for Rare Disease Day 2019 is an all-island collaboration between patient organisations North and South of the border, whose members represent: Rare Diseases Ireland, the Medical Research Charities Group, the Irish Platform for Patient Organisations, Science & Industry, Fighting Blindness, Cystic Fibrosis Ireland, MSD Action Foundation, and the Northern Ireland Rare Disease Partnership.

    About Rare Disease Day
    Rare Disease Day takes place on the last day of February each year and aims to raise awareness of rare diseases and their impact on people’s lives among the general public and decision-makers. It was first launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008. Rare Disease Day has taken place every year since, with events being held in more than 90 countries. For more information, visit www.rarediseaseday.org

    Reference
    1 “Juggling care and daily life – the balancing act of the rare disease community”, A Rare Barometer survey. http://download2.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf