There are 24 different ERNs including ERN-EYE. The ePAG is composed of patient advocates active in the area in which the respective ERN is involved. In my case, despite now living in France I am involved in running a UK based patient group for Leber’s hereditary optic neuropathy (LHON), a rare genetic condition which leads to irreversible blindness and for which there is currently no cure. I helped found the LHON Society five years ago, soon after my then 24-year-old son became suddenly blind as a result of the disease.
In order to improve outcomes for people with LHON of course we need better research. But simply raising money for research without being clear what it might achieve was not an option for me. The more I investigated, the more I realised that there were multiple projects taking place around the world but with little or no coordination between them. What is worse is that much of that research is driven by the researchers’ personal interests, which may or may not coincide with the patients’ best interests. Crucially, there is no patient registry for LHON (nor for the vast majority of rare diseases) and without this baseline, we really are all fumbling in the dark.