What has EpiCARE done for r(20) syndrome?

“Well, quite a lot actually….” says Allison Watson CEO of Ring20 Research and Support UK CIO.

Allison is co-lead for the patient advocacy group (ePAG) for EpiCARE – the ERN for rare and complex epilepsies, so together with a (very few) colleagues she represents the needs of everyone affected by all the ‘epilepsies’ across Europe – that’s quite a responsibility!

EpiCARE ERN is a clinical network which means it exists to improve care, management and treatment of patients with a rare and complex epilepsy – including r(20) syndrome.

The role of the ePAG advocates is to bring the voice of the patient community – the individuals and families affected – to inform the activities of EpiCARE going forwards. As ePAG we advocate for what information and support is ‘missing’ in terms of improving patient care. Allison’s presence is highly visible as she sits on both the EpiCARE Steering Committee and EpiCARE Research Council seeking new opportunities for research.

Allison has been involved in EpiCARE almost since its inception 5 years ago. In that time, Allison has been instrumental in achieving the following changes for r(20) syndrome, working with various epileptologists across Europe:

  • Creation of information leaflets – for both patients/caregivers and for healthcare professionals (with Prof Sameer Zuberi)
  • Creation of a Patient Journey – to illustrate the typical steps facing someone with r(20) throughout their life
  • Contributed to an abstract and poster for ECRD on the ‘Common unmet needs within the patient community’ (with ePAG advocates)
  • Update to Orphanet – the trusted website for healthcare professionals for information on rare diseases (with Dr Valentina DE GIORGIS and Prof Rima Nabbout)
  • Production of a webinar – to educate healthcare professionals in diagnosis and treatment (with Prof Sameer Zuberi)

But the work doesn’t stop there. In progress and soon to be released:

  • An article to be published in the European Journal for Medical Genetics (with ePAG advocates)
  • E-Learning modules – for training upcoming epileptologists in tandem with the ILAE (with Prof Sameer Zuberi)

If that’s not enough, Allison has also just resubmitted:

  • A grant application for the latest EJPRD NSS call – to request funding for a research brainstorming event in late 2022, Paris, to discuss the current state of research in ring Chromosomes associated with epilepsy – mostly r(20) and r(14) – and to create a new European research network to work together to drive the science forwards.

Allison is actively involved in various working groups (the activity groups) of EpiCARE including providing her professional insight as a Business Analyst as part of the CORE project team for the new EpiCARE Patient Registry that has just been launched. If you attend clinic at one of the 50 EpiCARE centres across Europe, on your next visit you should be asked if you will consent to be added to the new register. Please say ‘YES’, as this will help us to start to understand how many people have r(20) syndrome in Europe.

In the past 2 years, Allison has presented together with other ePAGs at the annual rare epilepsy congress in Rome and last year she was invited to present what ‘good would look like’ in terms of Patient Centred Outcomes (PCO’s), if ever there was a clinical trial for people with r(20) syndrome.

Oh and just as an aside, Allison is a EURORDIS volunteer and has completed a rare disease advocacy leadership program; she now contributes to the program for new recruits. She participates in various ePAG transversal groups representing the needs of all rare diseases and has been invited to speak as part of a panel discussion at the upcoming European Congress for Rare Diseases 2022 on “Reducing inequalities in education, work and independent living” drawing on her experiences with David and the challenges faced by many head-on.

Having just returned from the 5th EpiCARE Annual Meeting in Lyon, France Allison has built some solid working relationships with medical professionals across Europe. And because they know Allison, they know about r(20) syndrome! It was a pleasure to have some amazing feedback from one of the doctors from a new Danish centre, hearing that the webinar on r(20) syndrome was “Excellent – in fact, in my opinion one of the best!” and that as a consequence “two new people have been diagnosed with r(20) syndrome in Denmark and another was awaiting test results to confirm”. This is huge for our patient community!

EpiCARE Annual Meeting, February 2022

Allison volunteers on average 1 day per week for EpiCARE activities/ePAG management and EURORDIS volunteering – sometimes more. Can you put a price on raising awareness of r(20) syndrome diagnostics, treatment and care in the medical fraternity?

So, if you were asked “What has EpiCARE done for r(20) syndrome?” and whether Allison devoting significant time to EpiCARE adds value for you as members of Ring20 the charity, what would you say?

Author: Allison Watson, CEO Ring20 Research and Support UK CIO

March 2022

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