PATIENTS who suffer from rare diseases continue to be moved from hospital to hospital or are lying helpless on trolleys as they search for a diagnosis, the Joint Oireachtas Committee on Health and Children was told yesterday.
Avril Daly, chair of the Genetic and Rare Disorders Organisation, said the term rare should not be understood to mean "few" people suffer from these conditions.
She said it was essential that there was investment in the National Plan for Rare Diseases which will run over four years. There are about 6,000 rare diseases that are known.
"In cases of pregnancy, where family members are known to be at risk of being carriers of genes for rare diseases, they must have appropriate access to pre-conception genetic testing and counselling which will inform them about the risks," Ms Daly told the committee.
Dr John Devlin of the Department of Health said it was known that "rare diseases, when added together, are relatively common and many of these conditions are complex, severe and debilitating".
A national office for rare diseases is being set up to perform different functions including allowing for timely access to centres of expertise where hospital staff have a good knowledge of particular conditions. However, in 2015 the HSE was only able to provide half-year funding of €100,000 towards the office.
Liam Heffernan of the Saoirse Foundation, who lost his two children Saoirse and Liam to Batten's disease, pointed out that families coping with rare conditions faced several problems such as emotional and financial pressures, a lack of access to information and respite care, and social isolation. More needed to be done, he stressed.