People with a rare disease can wait 10 years for a diagnosis, with some patients undergoing harmful treatments before discovering their condition, a new report reveals today.
It highlights the struggle faced by many of the 300,000 people in Ireland with a rare disease amid long delays to get genetic tests, with a waiting list of more than 4,000 and a lack of specialist care.
The survey was carried out by Rare Diseases Ireland and the findings are revealed in a new report Rare Reality: Living with a Rare Disease in Ireland – Healthcare Experiences. The survey of 111 people showed:
:: Patients who paid privately for genetic tests got results within three months but it could take more than two years in the public system.
:: Some 14pc waited between five and 10 years, and 23pc over 10 years, before getting a diagnosis.
:: Almost one in two saw between three and five specialists on their journey to diagnosis, with one in four visiting six or more specialists before being diagnosed.
:: Just over one-fifth received their potentially life-changing results after genetic testing via letter or email.
:: The complex nature of rare disease means patients can have five areas of their health impacted including heart, speech and language, joints and brain.
:: Almost one in five reported that treatment was not available in Ireland due to waiting lists.
:: Just three in five have a specialist managing their care with expertise in their rare condition. Almost one-third said there was no specialist in Ireland with the requisite expertise.
:: The pandemic has left almost one in three feeling their rare condition deteriorated substantially.
Around 72pc of rare diseases are genetic in origin. And 7pc start to show up in childhood. At least 3.5pc of children in Ireland are diagnosed with a rare disease by age 15. Almost six in 10 childhood deaths are associated with rare diseases.
Commenting, chief executive of Rare Diseases Ireland Vicky McGrath said that the failure to appoint someone to the role of HSE National Director of National Genetic and Genomic Medicine “is enormously frustrating”.
Only four of the six available consultant geneticist roles at Children’s Health Ireland at Crumlin are currently filled.
“The effect of these vacancies is clear with 4,029 on the clinical medical genetics waiting list,” said Ms McGrath.