Fighting Blindness Marks International Rare Disease Day 2015 With Call For Investment in Rare Disease 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, Fighting Blindness is 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 call for the full implementation of the first National Rare Disease Plan for Ireland 2014 – 2019.
Fighting Blindness joined with the European Organisation for Rare Diseases – EURORDIS – and its 667 member organisations globally to celebrate International Rare Disease Day 2015 on Saturday, February 28. Held on the last day of February each year, Rare Disease Day seeks to raise awareness of the impact rare diseases have on the lives of patients and families affected by them.
People living with Rare Diseases are often some of the most marginalised in society. With over 6,000 different rare diseases currently identified, their varied nature, coupled with limited access to treatment and services, means that family members are often the primary source of support and care for their loved ones.
In Europe a condition is considered rare when it affects fewer then five in 10,000 people. Fighting Blindness is actively funding research in Ireland into rare diseases that cause sight loss. These rare degenerative conditions affect approximately 5,000 people on the island of Ireland. Collectively, rare diseases are common but funding dedicated to research on rare diseases, both at national and European level remains very limited.
The value of fundamental rare disease research cannot be underestimated on moral, scientific and economic arguments. Rare diseases represent a tremendous burden on the individual, the community and the state, resulting in an unacceptable unmet clinical need for thousands of Irish patients. Quite simply the medicine of tomorrow depends on sustained investment in basic research today. We need to foster a supportive environment for this research and develop sustainable infrastructures for all rare disease research in Ireland.
Rare disease registries represent one of the crucial building blocks for sound policy on rare disease. In line with sustained investment in rare disease research and research infrastructures, Fighting Blindness is also calling on the development of an All-Ireland Network of Rare Disease Registries covering the island of Ireland, as recommended in the National Rare Disease Plan for Ireland which was published in July 2014.
Where well-implemented registries exist, the likelihood for developing a treatment for the rare disease in question is increased. That is why the Fighting Blindness project, Target 5000, which aims to provide a genetic diagnosis to everyone in Ireland living with a rare degenerative condition causing sight loss is so important. This information will be added to an All-Ireland Patient Registry, which is vital so that we can attract clinical trials to Ireland and ensure access to clinical trials and effective treatments for Irish patients.
During the week leading up to Rare Disease Day, Fighting Blindness supported and participated in a number of key activities in Ireland and Europe to raise awareness about rare disease. On Tuesday, February 24 Fighting Blindness member Peter Ryan spoke at the EURORDIS Black pearl Gala Dinner in Brussels about the challenges of being diagnosed with and living with a rare disease causing sight loss. On Thursday, February 26 Avril Daly, along with other members of the Rare Disease Taskforce, made a presentation about the National Rare Disease Plan for Ireland to the Oireachtas Joint Committee on Health and Children. The Rare Disease Taskforce raised a number of issues faced by people and families affected by rare diseases and again called for full implementation of the National Rare Diseases Plan.
It is estimated that over 280,000 Irish people will be affected by a rare condition in their lifetimes. It is not rare to have a rare disease.