“Improving the lives of those affected by rare diseases and their families”
On May 26, 2021 RDI met with the Oireachtas Joint Committee on Health. At this meeting we highlighted 2 priority areas for the rare community in Ireland. We were joined at the meeting by Dr Sally Ann Lynch, Consultant Clinical Geneticist from Children’s Health Ireland (CHI) at Crumlin and Ms Avril Daly, CEO at Retina International and VP at EURORDIS-Rare Diseases Europe. Avril also has first-hand experience of living with a rare condition. We would like to thank both Dr Lynch and Ms Daly for their valuable and insightful contributions.
Priorities: A priority for people living with rare conditions and their families in Ireland is faster diagnosis. We want to see the “diagnostic odyssey” shortened. Over 70% or rare conditions are genetic in origin. Timely access to appropriate genetic services in Ireland will help to reduce the time to diagnosis. Currently genetic services at the HSE are enormously under-resourced. We need leadership and a specific action plan to bring genetic services up to the standards that would ensure everyone has access when needed, not 18-24 months later (in priority cases). Likewise we need a rare disease plan that addresses the needs of the ‘whole’ person living with a rare condition. The next plan must go beyond the immediate healthcare needs and address areas such as educational & employment opportunities and independent living.