PEOPLE with a rare disease can wait as long as 10 years to find out what is wrong with them, and more than a third are given an incorrect diagnosis at first, it has been reported.
As many as 350,000 people could be affected by a rare condition during their lifetime – yet these remain largely ignored or misunderstood, the Joint Oireachtas Committee on Health and Children has been told.
"Although there has been some progress, with better communication between patient groups and specialists in the medical field, it remains the case that those who have received an accurate diagnosis are considered fortunate," said Ann Lawlor of the Irish Genetic and Rare Disorder Organisation.
"Patients and families affected by rare diseases can wait years for a correct diagnosis, and the number who have received an incorrect diagnosis before the final one is made is too high."
She said the lack of awareness of rare conditions among healthcare professionals, including the family GP, was of concern.
And in the case of children, "parents are the experts, informing the healthcare professionals".
About 80pc of rare diseases are genetic in origin, and most are life-threatening or associated with significant disability. Half to three-quarters of rare conditions affect children and it is estimated that 30pc of these die before the age of five.
"It is accepted that there may be a higher prevalence of rare diseases in Ireland due to our history of being a small island nation with a greater degree of genetic interaction."
Ms Lawlor told the committee that "appropriate and timely access to medicines and treatments is vital to patients. However, many have difficulties in obtaining appropriate treatments and medicines and do not believe they have the medical care for their condition".
Meanwhile, the Health Research Board said researchers at Crumlin hospital and UCD have developed genetic tests that will speed up diagnosis of rare diseases in children and help avoid the need for invasive procedures.
Dr Sally Ann Lynch, the principal investigator on the project and a consultant clinical geneticist at Crumlin hospital, said: "These new tests will make a genuine difference to the lives of babies and infants affected by a number of rare diseases."