Mum to David (25) with Ring Chromosome 20 Syndrome, [ r(20)], I co-founded Ring20 Research and Support UK CIO 8 years ago, to provide mutual support and information on this rare disease to individuals, families and healthcare professionals who are affected by or come into contact with r(20). We currently support over 120 families worldwide and our community is constantly growing, despite the perceived reality that diagnostic rates are in decline. I have been CEO since February 2021 and am the only part-time (0.4 FTE) paid member of staff.
As co-lead for European Patient Advocacy Group (ePAG) for the EpiCARE ERN, I work alongside my colleagues representing the patient voice of all those living with rare and complex epilepsies across Europe as a EURORDIS volunteer.
I am (part-time) Programme Manager for Rare Diseases International (RDI) as part of the Collaborative Global Network team for Rare Diseases, so I have exposure to the needs of those living with rare diseases in the 6 regions of the world, which can be very different.
My belief is that, as patient representatives and families, we are the key to driving change – no-one else will do this for us, so we cannot sit back and wait. The time for action is NOW!