Speakers

First and foremost, I’m mum to David age 28 with Ring Chromosome 20 Syndrome and am CEO/cofounder of Ring20 Research and Support UK CIO a patient group supporting those affected by r(20) syndrome – an ultra-rare epilepsy that remains refractory to treatment. I have >20 years lived experience with my son and from supporting families living with r(20) around the world. 

In 5 years as co-lead for ePAG EpiCARE, the ERN for rare and complex epilepsies strengthened my knowledge of rare epilepsies across Europe, and my short time as Program Manager for Rare Diseases International supporting the CGN4RD initiative provided perspective at a global level. Whilst answers to rare disease may not always be found locally, it is only within our own country that we can truly leverage change. 

So in 2022 I founded the UK Rare Epilepsies Together network (UKRET) bringing together organisations representing people living with rare epilepsies in the UK to work together to be change makers at a national level to improve service delivery in diagnosis, treatment and care. We work collectively to harness the power of the world-leading scientists and technologies in the UK to drive the research agenda forward with a patient-led approach. 

My byword is equity. I believe we cannot continue to tackle rare diseases one by one; collaboration is key to improving outcomes for the MANY not the FEW individuals and families living with rare disease.