We marked Rare Disease Day at an event in Dublin Castle, with over 100 others on leap day – a rare day for rare diseases. Much progress has been made in the struggle to have the voices of those with rare conditions heard. There were more people present at the event than any such event in the past and there were positive updates on the new National Rare Diseases Office and the clinical programme for rare diseases. While there is lots of progress to celebrate, much frustration remains within the community however, in particular relating to very long waiting lists for genetic services and blocks in the access to rare disease medicines.
We remain as committed as ever to working with our dedicated colleagues from many different organisations to improve the care of all people with rare conditions, EB included. Since our last update we spoke at an Oireachtas Joint Committee on Health meeting on rare diseases and also at the Europlan meeting, on rare disease research.