New rare disease plan needed to improve Ireland’s rare disease pathways

Rare diseases collectively affect around 280,000 people in Ireland but the impact they have on patients, families and society is profound. Of the nearly 7,000 rare diseases, many are severe, chronic and progressive, with only 5% having an available treatment.

New national rare disease plan

Much has been achieved since Ireland’s ‘National Plan for Rare Diseases’ was published in 2014. The four-year government plan contained 44 recommendations focused on improving the diagnostic odyssey, identifying centres of excellence and establishing dedicated rare disease pathways.

Alexion, AstraZeneca Rare Disease recognises the progress made in establishing the National Office for Rare Diseases, publication of a Model of Care for Rare Diseases and several Irish hospitals joining the European Reference Network. Despite this, an enormous amount of work remains. Along with the wider Irish rare disease community, Alexion is calling for the publication of a new national rare disease plan to support quicker diagnoses and better access to the most innovative treatments available.

Receiving an accurate diagnosis

One of the most significant challenges facing the rare disease community in Ireland is the length of time it can take to receive an accurate diagnosis. A recent survey from Rare Diseases Ireland reported that 37% of people living with a rare condition are waiting over five years for a diagnosis, representing a lost opportunity to manage a disease as early as possible and achieve the best outcome for patients.1

It is hard to imagine waiting years to be diagnosed, only to be told your condition has no treatment option or it is unavailable where you live.

Ireland’s growing footprint

For more than 30 years, patients and families affected by rare disease have inspired us to find answers to the most complex scientific challenges by pushing the boundaries of medicine. Ireland is a country of growing significance for Alexion. In 2022, we announced further investment to increase our manufacturing capacity, thereby ensuring an uninterrupted supply of our drugs to an ever-increasing and diverse global patient population.

We are a committed partner to both the rare disease and pharmaceutical ecosystem in Ireland, with over 1,000 employees carrying out a range of different functions across two sites, aligned with our mission to make a difference for rare disease patients. We are equally committed to driving innovation in the rare disease space in Ireland and to working in partnership with the Irish Government to reduce the length of time it can take for a rare disease patient to receive an accurate diagnosis and access treatment.

References

1. Bowers, S. (2022) Many patients with rare diseases experience long waits for diagnoses, survey finds, The Irish Times, 31 January. Available at: https://www.irishtimes. com/news/health/ many-patients-with-rarediseases-experiencelong-waits-for-diagnosessurvey-finds-1.4789212 (Last accessed: 24 February 2023)

Date of preparation: February 2023

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