Orla Galvin is the Director of Stakeholder Engagement at Retina International (RI). RI is an umbrella non-profit organisation for patient-led groups around the world focused on research and support for rare and common retinal diseases. RI has 43 active members made up of Patient-led Voluntary Groups, Charities and Foundations from around the world, all with the common goal of finding cures and treatments for Retinal Dystrophies by supporting Research and Innovation. RI fosters and supports collaborations between patients, clinicians, researchers, policy makers and industry in the development of educational tools and awareness campaigns that will bring about a better quality of life for individuals and families affected by retinal dystrophies.
At Retina International Orla has led a first-in-kind pilot study in Ireland and the UK, to better understand the impact of Inherited Retinal Disease (IRD) on patients, and families in these countries through literature review, and patient and carer survey. Orla is co-ordinating the CME accredited Retina International ARVO 2020 education course on patient data “Patient Data: Recognition, Evaluation, Incorporation and Practice”. Orla believes in continuous education and raising awareness of retinal conditions. In 2017 Orla co-ordinated the University College Dublin Inherited Blindness Summer School; and in 2018 she designed and developed the content for the Diabetic Eye Disease tool kit which launched in January 2019. This educational site aims to provide timely, relevant and accurate information to patients and their families and professionals (Eye Care Professionals, Advocates, etc.) on Diabetic Eye Diseases (DEDs). Orla came to Retina International with a background in academic and industry vision research. Orla is a Pharmacology graduate from University College Dublin (UCD) with a PhD in Medicine from Queen’s University Belfast.
Impact of inherited retinal degenerations in Ireland and the UK
Accurate data regarding prevalence of Inherited Retinal Diseases (IRDs), impact on individuals and families affected, and cost burden to UK and Irish economies is lacking. This hinders development and commissioning of clinical services, treatments, and the planning and implementation of clinical treatment trials. Thus there is a need for a stronger evidence base to support research, advocacy, care pathways and value for money to regulatory bodies for treatments.
The socioeconomic burden of 10 IRDs in the RoI and UK was estimated using a cost of illness methodology applying a prevalence approach by estimating the number of people with IRDs in a base period (2019) and the costs attributable to IRDs in that period. The analysis was based on a targeted literature review and primary data (survey) collection. IRDs included were Retinitis Pigmentosa, Early Onset Severe Retinal Dystrophy/Leber Congenital Amaurosis, Usher Syndrome, Stargardt’s Disease, Choroideremia, X-linked Retinoschisis, Achromatopsia, Cone Dystrophy, Cone-Rod Dystrophy, Best’s Disease.
IRDs imposed a significant economic and wellbeing cost to the RoI and UK population in 2019. Persons living with an IRD and their families incur significant economic costs and reductions in their quality of life. Significant economic costs are also borne by government, employers and society. The highest percentage of total costs attributed to these 10 IRDs in the RoI and the UK in 2019 were wellbeing costs; reflecting 33.8% equating to €16.0 Million in RoI, and 38.4% equating to £196.1 Million in the UK. This study highlights the need for further research into the genes yet to be identified and the IRDs without therapy. Continued work is needed to bring therapies to patients and to provide support to those affected by IRDs to live as complete and fulfilling lives as possible.