by Graham Slater and Anke Widenmann-Grolig
Graham is Chair of TOFS Medical Liaison Sub-committee and Anke, President of EAT
As ERNICA, the European Reference Network for rare Inherited and Congenital (digestive and gastrointestinal) Anomalies passes its five-year anniversary we take a look back at how bringing together expert healthcare professionals from across Europe has benefitted the OA/TOF community.
When the European Reference Networks (ERNs) were founded in 2016, we didn’t know whether all the work would be worth it. We asked ourselves, “What do we get from it; what do our children and adults born with OA/TOF get from it; how does it help the families and those affected?”
At first, the benefits were more related to the indirect advantages. There was now a European body with recognised experts, and as a result of the role played by EURORDIS (the European umbrella patient organisation for rare diseases) in establishing the ERNs, patient engagement in their activities was guaranteed.
The existence of EAT (the global federation of OA support groups of which TOFS was a founder member) made our involvement more easily facilitated. The potential benefits increased when it quickly became more apparent that OA would be one of the first conditions to be tackled by ERNICA.
In 2018 and 2019, EAT was represented at two workshops where experts developed consensus statements for the treatment of OA, and we were able to influence good treatment recommendations based on our advice. Much of it corresponds to what we had always recommended, but now we also had reliable publications for discussions with medical professionals and clinics – and of course, we learned a lot, had new ideas and found out about helpful treatment methods.
The pandemic had some impact on ERNICA activities, but despite that, some significant steps were made and much use was made of video-conferencing tools such as Zoom. The main casualty was the annual meeting bringing together all those involved in its activities, but in September 2021 and in April 2022 we were again able to meet face to face.
From our point of view, the most important activity is the development of the OA Patient Journey. Drawing on the experiences of all the member organisations of EAT, we have been able to depict the essential stages in the life of a person with OA in image form and to start the process of developing a set of best practices in the care and treatment of OA patients. Including matters such as: how care is or should be organised, identifying and developing patient – and parent-friendly – information and, crucially, identifying and addressing gaps in knowledge and information.
As patient representatives, we had a tool with which we could compile bundled, resilient “OA expert knowledge” from a great many individual experiences. Finally, we were being taken seriously with our demands to address specific topics.
At the recent annual meeting, the ERNICA Coordinator (Prof Rene Wijnen from Rotterdam) decreed that the concept of the Patient Journey would be the “umbrella” under which all ERNICA activities would be held. As we put it, “If an ERNICA activity is not addressing one or more stages of the Patient Journey, then why are we doing it?”
The information film “CANEAT” was the first result from a small group of patient representatives and committed medical professionals (clinical and non-clinical). We wrote the script and hopefully (over several iterations) made the language easy to understand and helped design the drawings down to the last detail. The result is definitely not perfect – film development like this has to be practised – but films on reflux and lifelong follow-up care have also been developed.
ERNICA has recently completed an analysis of the OA research projects under way in Europe. This is being used to identify research gaps and develop priorities for new and further research.
Finally, at the recent annual meeting, there was considerable discussion about transition. Transition from paediatric to adult care remains a hot topic and reflects the recognition that OA has lifelong patient implications. Whilst transition is not yet comprehensively carried out (and we welcome efforts to address this issue) the arguably bigger issue is the very limited number of adult clinicians that are expert in OA and the absence in the vast majority of countries (including the UK) of specialist clinics for adult OA patients.
At this recent annual meeting, we laid down a challenge to identify and bring on board some interested and preferably experienced adult clinicians, so that we can develop greater focus to the adult stages of the Patient Journey.
At the upcoming workshop on nutrition (“swallow and thrive”), dietitian, TOFS member, and EAT Board member Julia Faulkner will be a key member of the team working on this topic.
We have put respiratory issues onto the agenda for ERNICA’s ongoing work in OA, while related conditions such as tracheomalacia and achalasia will also be tackled over the coming years.
If you would like more information on ERNICA and access to the patient/parent-friendly versions of all research and films mentioned above, please visit: ern-ernica.eu
