Rare disease office to open soon
Pictured at last year’s launch of the National Rare Disease Plan for Ireland was the then Minister for Health, James Reilly, TD with: Eibhlin Mulroe, CEO, IPPOSI (Irish Platform for Patient Organisations, Science and Industry); Avril Daly, CEO, Fighting Blindness; and rare disease patient Jamie O’Reilly
Ireland’s first National Rare Disease Office (NRDO) is expected to open officially in a number of months, the HSE has stated.
Addressing the Joint Oireachtas Health Committee on rare diseases in Ireland, Helen Byrne, Assistant National Director, Acute Hospitals Division, HSE, said that the NRDO would be based in the Mater Hospital in Dublin pending the establishment of the new National Children’s Hospital, and it was hoped to open the office officially towards the end of the second quarter of this year.
The establishment of a NDRO was one of the key recommendations of the Department of Health’s first national rare disease plan, ‘A Rare Disease Plan for Ireland 2014-2018’, which was published last July.
Byrne told the Health Committee that funding had been provided to the NRDO to employ an information scientist, a genetic counsellor, a part-time consultant geneticist and admin support.
The new office will be responsible for building information on the availability of expertise in Ireland for rare diseases and making this available to patients and doctors. It will also establish a helpline for patients with access to a genetic counsellor and support the HSE in the mapping and validation of centres of expertise in rare diseases in Ireland, as well as having a long-term role in rare diseases surveillance.
According to Bryne, the core benefit to the population and the State of the establishment of a NRDO will be the streamlining of access to diagnosis and treatments for patients.
She advised that the HSE was currently designating existing centres of expertise for the diagnosis, care, clinical research and training in rare diseases according to accepted European criteria.
The initial sites to be reviewed are: Our Lady’s Children’s Hospital, Crumlin, for clinical genetics; Children’s University Hospital, Temple Street, which has expertise in inherited metabolic disorders; and St James’s Hospital together with Crumlin, for hereditary coagulation disorders.
“This work will also inform the identification of centres of expertise abroad for those patients whose disorders cannot be fully served in Ireland in collaboration with European Reference Networks and the development of processes for patients to access this expertise for timely diagnosis and care,” Byrne added.