Rare Disease Day 2014 – Joining Together For Better Care

International Rare Disease Day 2014 took place on Friday, February 28. Throughout the world, rare disease patient organisations and their partners joined forces to promote awareness of rare diseases and the millions of people affected by them.

Rare Disease Day was originally launched by EURORDIS, the European Rare Disease Organisation 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. Over 80 countries took part this year, including 27 European Union Member States. The European Union considers a disease as rare when it affects fewer than one 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.

Many conditions causing sight loss are classified as a rare disease, such as retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, Leber hereditary optic neuropathy (LHON), Leber congenital amaurosis (LCA), and choroideremia, among others. As well as providing information about these rare conditions to people who have been diagnosed, we are actively funding and promoting research into rare inherited sight loss conditions. 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, also acts as Chair of the Genetic and Rare Disorders Organisation (GRDO) and Vice President of EURORDIS. She explains the significance of Rare Disease Day:

“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, called 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.”

During the week leading up to Rare Disease Day, Fighting Blindness supported and participated in a number of key activities including a European Policy Briefing in Brussels. a briefing at the Mansion House in Dublin on the Irish Rare Disease Plan and Clinical Care Programme, organised by GRDO, MRCG (Medical Research Charities Group), and IPPOSI (Irish Platform for Patients’ Organisations, Science and Industry). Fighting Blindness attended 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. On Rare Disease Day itself, Avril Daly presented at the main event on the island of Ireland on cross border collaboration and the importance of ‘Joining Together for Better Care’. This event took place at Riddell Hall in Belfast and was 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.