Rare Disease Day 2014: “Join Together for Better Care”

February 28, 2014 is Rare Disease Day. Throughout the world, rare disease patient organisations and their partners will join forces to promote awareness of rare diseases and the millions of people affected by them.

Fighting Blindness represents the 224,000 people in Ireland affected by sight loss. Many of these conditions are rare or inherited. We provide information about them to those who have been diagnosed. We also fund and promote research into rare inherited sight loss conditions such as retinitis pigmentosa, Stargardt disease, Usher syndrome, Leber hereditary optic neuropathy (LHON), Leber  congenital amaurosis (LCA), and choroideremia, among others. On behalf of our members we advocate for better outcomes for people with rare diseases and support the development of a National Plan for Rare Disease.

Avril Daly, CEO of Fighting Blindness, who also acts as Chair of the Genetic and Rare Disorders Organisation (GRDO) and Vice President of EURORDIS, the European Rare Disease Organisation, states: “This is the seventh year we have celebrated Rare Disease Day. We have come a long way in our combined efforts with many committed stakeholder groups including patients and their representatives, scientists, clinicians, support workers, industry representatives, and policy makers in the development of a National Plan for Rare Disease in Ireland. “Joining Together for Better Care” could not be a better theme as rare diseases highlight the importance of working together and what can be achieved through a shared vision and a common purpose.

We are awaiting this spring the publication of the National Plan for Rare Diseases and welcome the appointment of Professor Eileen Treacy as the Clinical Lead for Rare Disease. From the Fighting Blindness perspective, working together with these stakeholders is the only way we can achieve our objectives of finding cures and treatments for people living with inherited forms of blindness, while actively supporting, empowering and advocating on their behalf.

One of our key projects in the coming years is the establishment of a national register of inherited retinopathies (Target 3000). We hope through this initiative that we will identify the 3,000 people in Ireland affected by these rare conditions so that they are informed of their inheritance pattern and prognosis, and essentially will be part of a mechanism by which they can access the appropriate clinical trials when they become available.”

This week Fighting Blindness have supported and participated in a number of key activities around Rare Disease Day, beginning with our Chief Executive Avril Daly presenting at a European Policy Briefing in Brussels on Tuesday, February 25. We helped to facilitate a briefing at the Mansion House in Dublin on Wednesday, February 26, on the Irish Rare Disease Plan and Clinical Care Programme, organised by the Genetic and Rare Disorders Organisation (GRDO), the Medical Research Charities Group (MRCG) and the Irish Platform for Patients’ Organisations, Science and Industry (IPPOSI). Further to this, on Thursday, February 27, Fighting Blindness attended and assisted with the Oireachtas Joint Committee on Health and Children where rare disease stakeholders were invited to present on the importance of developing the national plan and, in particular, the establishment of a National Office for Rare Disease which would provide much needed information to patients and medical professionals alike. Finally, on Friday February 28, International Rare Disease Day, Avril Daly will present at the main event on the island of Ireland on cross border collaboration and the importance of “Joining Together for Better Care”. This event takes place at Riddell Hall in Belfast and will be addressed by Alex White TD, Minister of State at the Department of Health with responsibility for Primary Care and Minister Edwin Poots MLA, Minister of the Department of Health, Social Services and Public Safety in the Northern Ireland.

Rare Disease Day was originally launched by EURORDIS and its Council of National Alliances in 2008. Held on the last day of February each year, it seeks to raise awareness for the impact rare diseases have on the lives of patients and those who care for them. A record 72 countries and regions participated in 2013 and over 80 are expected this year including 27 European Union Member States.  The European Union considers a disease as rare when it affects fewer than 1 in 2,000 citizens. Over 6,000 different rare diseases have been identified to date, affecting over 60 million people in Europe and the USA alone. Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offering inadequate, and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment and the benefits of research.

This year, Rare Disease Day puts the spotlight on Care. Caring for people living with a rare disease has many facets. The 2014 slogan “Join Together for Better Care” emphasises that the many different aspects of rare disease care represent a universal need for patients and their families around the world. Advocating at the local and national level to improve the lives of people living with a rare disease and their families is crucial.

For more information about Rare Disease Day and the events planned around the world to mark the day, please go to www.rarediseaseday.org.