MDI is a partner in Rare Diseases Irelands campaign ‘Get Rare Aware’.
MDI is one of the partners in Rare Diseases Irelands campaign ‘Get Rare Aware’. This campaign is calling on the Government to urgently double the number of conditions screened for in Ireland’s newborn bloodspot screening (NBS) programme also known as the ‘heel prick test’ to the European average of 18.
Ireland was one of the first countries in the world to introduce a national Newborn Bloodspot Screening (NBS) Programme in 1966. However, it is now amongst the lowest ranked countries in the European Union, screening for less conditions than 75 per cent of European countries. Italy screens for 49 conditions, Austria screens for 31, Poland screens for 29, and Ireland screens for 9.
An Oireachtas meeting in June highlighted recent research from Rare Barometer, the survey initiative of EURORDIS-Rare Diseases Europe, revealing that the average time between first symptoms and confirmed diagnosis of rare conditions is 6.1 years in Ireland, as compared with the European average of 4.7 years. The survey also showed that 60 per cent were initially misdiagnosed with a different physical condition, while the same percentage faced misdiagnosis with a psychological condition or had their symptoms dismissed.
There are 34 conditions waiting to be assessed for inclusion by the National Screening Advisory Committee, including Pompe disease and Duchenne muscular dystrophy.
Only one condition has been implemented into the NBS programme at HSE over the last five years. In 2022, the condition, ADIA-SCID was added to the NBS programme, however this hasn’t been fully implemented yet. In November 2023, Minister for Health, Stephen Donnelly endorsed Spinal Muscular Atrophy (SMA) to the NBS programme with a commitment that screening for SMA would start before the end of 2024.
MDI’s Research Officer, Dympna Mulroy, was at the Oireachtas meeting. The campaign received substantial pick-up by national and local media. You can read one of the articles from this campaign here