Joining forces with others experiencing the same difficulties is often the best way to ensure positive progress. There are thousands of rare diseases and despite their differences, people who live with them experience many of the same issues. These issues include delays in diagnosis, lack of treatments or cures, limited medical expertise (particularly outside specialist centres) and feelings of isolation and exclusion.
Rare disease advocacy is primarily undertaken through the National Rare Disease Taskforce. This taskforce brings together patients, patient organisations, industry representatives and researchers, with the aim of supporting the development and implementation of an effective National Plan for Rare Diseases. This national plan is currently being developed by a National Steering Group, under the auspices of the Department of Health.
DEBRA Ireland has had considerable input into the research section of the National Plan. In 2012, as part of our efforts to ensure that this aspect of the National Plan is relevant and effective, we worked with members of the Steering Group, the Health Research Board and others, to organise a conference on rare disease research. This conference brought together rare disease researchers from across the country to focus on strengths and weaknesses of rare disease research and to shape the plan for the future.
2012 Rare Disease Day video, featuring Irish teenage, Evan O’Gorman, who lives with EB.
For more on the annual rare disease day and other rare disease initiatives, see: http://www.rarediseaseday.org/