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Patient 'Testimony' on effectiveness of ERN collaboration

Photo Russell WheelerAn October Sunday morning found me on the TGV from Angouleme to Strasbourg on my way to a mountain-top retreat for 3 days at Mont Sainte-Odile, a convent appropriately enough dedicated to Sainte Odile who is the patron saint of the blind, having been born blind herself but subsequently cured on being baptised around 675 AD.  The convent was setting for a gathering of around 60 eminent Ophthalmologists from around the world who were meeting to debate ontologies for rare eye diseases.  

Ont-What!?  Ontologies in this context are the precise terms that are used to describe and categorise diseases and surprisingly this is an area that has been hugely problematic over the years as there are several ways to do this and the lack of standardisation inevitably leads to confusion and misunderstandings, which is especially a problem for rare diseases. The best way to think about it (I think) is that there are several different dictionaries of ophthalmic terminology and we met to consider just two of these, which take different approaches to defining disease.  

The Orphanet ontology is a European dataset that focuses on categorising rare diseases by reference to their relationship to each other in a clinical context.  HPO ( Human Phenotype Ontology) on the other hand is a US based global dataset that categorises diseases by reference to their symptoms.  Inevitably, therefore, there are differences between them but advantages to each.  There are other ontologies ("dictionaries") out there as well, but these two were considered by the expert panel to offer the best way of ensuring standardisation of reporting and sharing information for rare eye diseases throughout Europe, which is one of the goals of the European Reference Network for rare eye diseases (ERN-EYE 

These two dictionaries have been built up over the years by experts in medical terminology but not necessarily by specialists in ophthalmology and certainly not by people steeped in working with rare ophthalmic conditions.  So this workshop was convened together with leading figures from Orphanet and HPO effectively to sit together and edit the whole area of the two "dictionaries" as they relate to rare eye diseases.  Among the 60 or so professors of ophthalmology present there were two of us "Patient experts" attending with a brief to keep it all real and focussed on patients.  I don't know about my qualifications as a "Patient expert" but this exercise certainly tested my powers of being patient, as the workshop consisted of long sessions seated at a table with a subgroup of experts talking through medical terminology, much of which I struggled to understand. 

Yet despite this, my participation was taken very seriously and I surprised myself by intervening on a number of occasions and my opinion was always listened to carefully.  The lead neuro-ophthalmologist in one group commented later that even by just sitting there I was a constant reminder of why they were undertaking the exercise and I have to say that my time spent listening to a dictionary being debated - sometimes passionately - was far more enjoyable than I would have guessed.  

Helped by a fantastic collaborative spirit - the founder and head of HPO commented in his summing up on the last day that in all his years of meeting with clinicians groups at similar meetings he had never encountered such a collegiate and collaborative atmosphere, with everyone thinking about the impact of their decisions on other groups within the ERN-EYE and with other ERNs as well, and no egotistical tendencies on show. 

I have to say it was a pleasure and a privilege to participate in this important exercise and I left really excited about what we could achieve together in ERN-EYE over the coming years with such an incredible spirit.  I have written elsewhere (and will no doubt do so again) about the ambitious objectives of this project that has the potential to transform care for rare eye disease across Europe and beyond. 

Russell Wheeler, ERN-EYE ePAG member.

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