December 12, 2019 By Bine Haase

By Fabiola M. Bertinotti & Bine Haase, Board members of FSHD EUROPE. 

It is somewhat difficult to substantiate in a few lines what we think and can feedback about EURORDIS per se and the Summer School we attended in Barcelona from June 11 through 15. Nevertheless, we will try to contain our enthusiasm, streamline our feelings and be very rationale and to the point.

First of all – what is EURORDIS?

EURORDIS –Rare Diseases Europe is a unique, non-profit alliance of 808 rare disease patient organisations from 70 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.
They are very much engaged into a great mind-set change in the world of science or more precisely, what is now defined as “open science”. For over 10 years now they have been working very hard to form and raise a new generation of “cultured” patients who can really work as ambassadors and well-prepared professionals vis-à-vis the classic stakeholders of rare diseases’ patient communities: EMA (European Medicines Agency) in the first place as this European body plays a pivotal role into the various steps of consultancy, appraisal, approval, authorization and vigilance of therapeutics and new technologies who can be a real game-changer into the life of rare diseases’ patients. Not everyone in the “science equation” is ready for this evolution. Old barriers are not easy to tear down, but one of the very good merits of the EU is surely to work towards a new paradigm where patients, scientists, clinicians, local and international institutions and last but certainly not least, industry can really work TOGETHER and contribute to good science, more occulated budget spending, less individual ego’s and more focus towards a common end: that of a better life for the European population, and people living with rare diseases in particular. In fact, one big learning that we have taken home is certainly that COLLABORATION and team-work is KEY in the world of Rare Diseases!

What have we achieved as individual patients from the FSHD community?

Well, here we have two valuable perspectives: Bine, born with FSHD and Faby, the mother of a 18-year-old affected child. For me, Faby, EURORDIS has meant many preparatory studies in the first place, something I have been constantly doing during my nights and my weekends for over 3 months. Seven different tests to pass after hours and hours of study. Everything tracked. You cannot move to the next level if you have not successfully completed your previous one. Yet, the final prize at the end of the course is invaluable and I am not just talking about the well-deserved certificate as patient advocates that we received at the end of the course and which opens us the opportunity to become consultants of EMA with regards to neuromuscular diseases, but far and beyond, the possibility of meeting face-to-face with excellent professionals from EURORDIS, EMA, ERNs, TREAT-NMD to mention just a few. Professionals who really had a lot to teach us, a first class and edgy kind of teaching which really keeps you all ears and super interested for hours in a conference room. This is not to mention the students there. High-level people, not just for their willingness to embrace a difficult course of study but first and foremost for their passion, love for life, faith in science and incredible humanity. WOW!


Let’s us get to the highlights of EURORDIS Summer School or at least what has made a lasting impression on us both:

1 – A self-reporting patient-led digital platform called HEALTH29, that is going to enable patient organisations to set up their OWN data registry. The inventor is Julian Isla-Gomez, a very talented Microsoft person, father to a young boy affected by a very impacting rare disease called Dravet Syndrome. Currently, he is engaged in developing this platform for DMD but – once up and running – this can easily be adapted for other diseases. Free of charge, ultimate technology; user friendly, endless opportunities for everyone!

2 – Importance of managing CONFLICT OF INTEREST vs key stakeholders. It is good to have some “clean” association members to participate into EMA’s consultation groups as well as have other members consulting with pharmaceutical companies to inform them about patient’s requirements. This speech was brilliantly held by Dimitrios Athanasiou, father of a son suffering from Duchenne Muscular Dystrophy and amongst other things a EMA patient expert.

3 – PARADIGM, a key futuristic project inside EURORDIS who functions as an incubator to design the European healthcare ecosystem effective in 10 years’ time. This workshop was also focusing on the theme of sustainability of patient organisations in the future. Faby wanted to participate into this extra workshop after school hours and ended up being extremely honored and inspired after working with excellent tutors and a group of incredibly smart students.

4 – INVESTING IN RARE DISEASES. A very intriguing opportunity presented again by Dimitrios Athanasiou about creating a pool of capitals invested in the long term to sustain non-clinical/clinical research and access to RD pharmaceuticals. In fact, it has clearly turned out that investing in rare diseases is highly remunerative for Pharma companies.

What’s next?

We will see. Step by step we will get there and ultimately make it to find a cure, … and in the meanwhile we will have had the unique opportunity to make friends with REAL PEOPLE!

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