Ireland has only 1/2 the staff it needs for genetic services1


People are waiting over 2 years for the right diagnosis2

Wrong Treatment

The delay in diagnosis means that people are being treated for the wrong diseases3

Rare Reality4

Living with a Rare Disease in Ireland

The first of Rare Disease Ireland’s ‘Rare Reality’ survey series addressed different aspects of the challenges of living with a rare disease.  The survey took the pulse of people living with a rare disease. It reveals the shared experiences of those living with a rare disease and and identifies solutions that would help.

Journey to diagnosis

Respondents indicated that the journey to diagnosis is long: 


Waited over 5 yrs for diagnosis


Assessed and/or treated for 3 or more conditions on journey to diagnosis


Saw three or more consultants in different specialties on journey to diagnosis


of those that accessed genetic testing received a definitive diagnosis


of respondents received genetic test results within three months when accessed privately compared to just 38% in the public system


The survey identified that education on rare diseases in general is required across all care professions at all points in their training.

Access to trials

Respondents also highlighted that more needs to be done to enable people living with a rare disease to access trials for innovative novel products that may transform their lives.


Rare disease diagnosis must be improved, including timely access to genetic services and the manner in which diagnoses are delivered; genetic services urgently need resources.

A lack of awareness about rare diseases, particularly among GPs and emergency doctors, can lead to delayed diagnoses and treatments; education and appropriate referral pathways are needed for all healthcare professionals.

People living with a rare disease often experience fragmented care, and they or their guardians report needing to link up services and specialties themselves, adding to stress levels.

The lived experience is a valuable resource that should be captured to feed into improved care for all with the same and similar diseases. There is a strong appetite for involvement in research among those living with a rare disease

Why is early access to genetic testing so important?

Clare O’Neill

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Tum dicere exorsus est et fortibus viris commemorandis eorumque factis non existimant oportere.

Liam Murphy

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Tum dicere exorsus est et fortibus viris commemorandis eorumque factis non existimant oportere.

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