New national strategy will address challenges faced by people living with rare diseases

Vicky McGrath

CEO, Rare Diseases Ireland

About 300,000 people living with rare diseases in Ireland continue to have a high level of unmet needs and demand equity of access.

Today, the 29th of February and the last day of February, is Rare Disease Day — the international day that celebrates and raises awareness of the millions of people living with rare diseases around the world.

Rare disease challenges to address

It is estimated that 300,000 people are living with a rare disease in Ireland. That is 1 in 17 of the population — individually rare, collectively common.
The only National Rare Disease Plan for Ireland was published in 2014 — 10 years ago. While not perfect, this plan brought about changes within the health service, but much more needs to be done. More than anything, the 300,000 people living with rare diseases in Ireland continue to have a high level of unmet needs and demand equity of access to services.

For many, living with a rare disease is a lonely and isolating journey. Diagnosis takes years and, sometimes, even decades. Information and expertise are scarce. Care is disjointed. Treatments target only symptoms. Therapies to treat the underlying condition don’t exist. There is no one on the same journey who can relate to your experiences and guide you on what the future might hold.

For many, living with a rare disease is a
lonely and isolating journey. Diagnosis
takes years and, sometimes, even decades.

Rare disease strategy key objectives

The past year highlighted rare diseases as a key public health priority. Efforts are ongoing to create and execute a national strategy for rare diseases, centred around the voices and lived experiences of those affected as well as their caregivers, aiming for tangible impact.

This strategy will:

• Provide a comprehensive and cohesive plan to ensure integration and coordination of care across the healthcare system regionally, nationally and internationally.
• Create the systems required to address the unmet needs of people living with rare diseases in Ireland and eliminate persistent inequalities along the patient journey in accessing a diagnosis, treatment and care.
• Build the foundations of a health system that is future-proofed and will allow us to keep pace with new technologies and practices in the decades ahead.
• Tackle barriers that prevent people living with rare diseases from integrating into society and living their best lives.

Empowering the rare community

The rare community is a vulnerable population persistently challenged by high levels of morbidity and premature death, significant inequalities in health and wellbeing and a lack of integration into society. This new national rare disease strategy will be a crucial step in addressing these challenges.