Rare diseases in Ireland

World Rare Disease Day on February 28 will be marked in Ireland by a conference in CA House, Pearse Street, Dublin 28. The conference will highlight the importance of joined-up hospital, primary care and community services for people with rare diseases. Among the topics under discussion will be: patient experiences of health and social care services, best practices in delivering services to patients and the current state of rare disease plans in Ireland.

Rare diseases can be chronically debilitating, progressive and life-threatening. The conference will hear directly from patients and patient organisations facing the challenges of living with, and caring for, people with rare diseases.

People with a rare disease or anyone interested in the topic, can attend the conference by registering at rdi.ie/rdd-2019

What is a rare disease?

A rare disease is a large group of conditions that each affects fewer than one in 2,000 people. Rare diseases have a wide diversity of symptoms that can vary from patient to patient with the same disease. It is estimated that rare diseases affect approximately 300,000 people in Ireland at some point in their lives. Relatively common symptoms can hide underlying rare diseases, leaving many affected individuals either undiagnosed or misdiagnosed. There are more than 6,000 known rare diseases and 80% have a genetic component, while others are the result of bacterial or viral infections, allergies and environmental causes.

Approximately 5% of rare diseases have treatments and often the best and only treatment option is to access a clinical trial. There is no cure for the majority of rare diseases.

Rare Diseases Ireland (RDI) is a patient advocacy alliance for voluntary groups representing people affected by, or at risk of, developing a rare disease. For more information, visit rdi.ie