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:
- 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.
- 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.
- 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.
- 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
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
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