A European Reference Network, focusing on rare skin diseases and with

strong Irish involvement has just been approved. Over time it will allow the sharing of expertise and data on EB with other experts around Europe. 

As they say, without awareness there is no funding, without funding there is no research and without research there is no cure. You could add to this that there would also be no possibility of improving EB services in the community and no understanding by the public of what it is like to live with EB. This is why you will frequently here the words ‘awareness’, ‘advocacy’ and ‘lobbying’ used in the DEBRA office.

There is very little clinical guidance on how to care for people with EB. We therefore need a way to capture the precious knowledge of healthcare professionals who have expertise in EB and also to base care on scientific evidence, whenever it exists. We do this through the development of clinical practice guidelines. We are delighted to announce that new EB clinical guidelines, on the topics of psychosocial issues, occupational therapy and podiatry, have been initiated. 

Over 30 people from across Europe, including clinical leaders from the EB community, DEBRA representatives and experts in patient registries came to Dublin in July to discuss EB patient registries. Working with the Irish Skin Foundation we are progressing plans for an Irish EB patient registry and a network of EB registries across Europe.

Dr. Lara Cutlar, an EB researcher at the Charles Institute in UCD, recently traveled to the 75th Society of Investigative Dermatology meeting in Arizona and reported this to us….

Small numbers of patients, small amounts of research and small numbers of clinical experts make sharing an imperative in rare diseases. Simply put, Brexit is a block to sharing.

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.