Staff
Ireland has only 1/2 the staff it needs for genetic services1
Waiting
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:
37%
Waited over 5 yrs for diagnosis
53%
Assessed and/or treated for 3 or more conditions on journey to diagnosis
73%
Saw three or more consultants in different specialties on journey to diagnosis
77%
of those that accessed genetic testing received a definitive diagnosis
75%
of respondents received genetic test results within three months when accessed privately compared to just 38% in the public system
Education
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.
Solutions
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
Eorumque factis
Tum dicere exorsus est et fortibus viris commemorandis eorumque factis non existimant oportere.
Liam Murphy
Eorumque factis
Tum dicere exorsus est et fortibus viris commemorandis eorumque factis non existimant oportere.
