Gillian calls for double ‘heel prick’ testing
Gillian Dunne and Aoife O'Donovan at the Rare Diseases Ireland demonstration at Leinster House Photo: Shane O'Neill, Coalesce
Kildare advocate Gillian Dunne joined Rare Diseases Ireland (RDI) at a briefing at Leinster House last week to urge members that the number of diseases screened for in Ireland using the ‘heel prick test’, must be doubled from the current nine to the European average of 18.
The heel prick test, technically the newborn bloodspot screening (NBS), is delivered by the HSE National Newborn Bloodspot Screening Programme (NNBSP).
It involves taking a small sample of blood from a newborn baby’s heel between 72 and 120 hours after birth for the early identification of serious medical conditions and rare diseases.
NBS currently screens for nine rare but serious diseases, and screening enables early identification and treatment of these conditions, significantly improving health outcomes for affected infants.
Each year, approximately 120 babies are diagnosed with one of these nine diseases through the NNBSP.
Ms Dunne joined RDI to call for the expansion of the NBS at the briefing event in Government Buildings as part of its current ‘Get Rare Aware’ campaign, which is highlighting how Ireland screens newborn babies for fewer diseases than 75 per cent of European countries.
Austria, Italy, Portugal and Russia test for a minimum of 30 conditions, while Slovakia, Ukraine, Poland, Hungary, Czech Republic, Estonia, Germany, Finland, Denmark, Norway, Netherlands and Sweden screen newborn babies for a minimum of 20 conditions.
RDI told attending politicians that an expanded NBS would ensure early diagnosis and treatment for an estimated 200-plus infants each year in Ireland, including in Kildare, leading to enhanced health outcomes and quality of life for more children, and providing them with the opportunity to live long relatively normal lives.
Addressing the briefing, CEO of RDI, Vicky McGrath, told Oireachtas members that only one disease has been added to Ireland’s newborn screening programme in the last five years.
According to Ms McGrath, Ireland’s National Screening Advisory Committee (NSAC) has recommended three tests be added to NBS, with a further 34 diseases to be assessed for inclusion.
