New campaign calls on politicians in Carlow to expand Ireland’s newborn screening programme

Rare Diseases Ireland (RDI) this week launched its 2024 Get Rare Aware campaign to bring together politicians, medical experts and people living with rare diseases, including in Carlow, to call for the urgent expansion of newborn heel prick screening services provided by the HSE. The new campaign is highlighting how babies born in Ireland are screened for only half the European average number of health conditions included in screening programmes in other European countries.

A Get Rare Aware information event for people living in the HSE Dublin and South East Health Region, spanning Carlow, Kilkenny, South Tipperary, Waterford, Wexford, most areas of Wicklow and South-East Dublin, is taking place at 12.30pm on Tuesday, 23rd April. People can register to attend the free, public online event at www.getrareaware.ie.

According to RDI, screening for an increased number of conditions would mean that approximately 200 babies born in Ireland each year, including babies born to people living in Carlow, could have their lives saved or have better health for life. This is because newborn screening enables doctors to diagnose babies early, and start treatment and onward care as early as possible and often before symptoms appear.

The National Newborn Bloodspot Screening Programme (NNBSP), more commonly known as the heel prick test, which is part of the HSE National Children’s Screening Programme, screens for nine conditions in comparison with the European average of 18 conditions minimum.

Heel prick services, which involve taking a small sample of blood from a newborn baby’s heel, are provided between 72 and 120 hours after birth for the early identification of serious medical conditions and rare diseases.

Speaking at the launch of the Get Rare Aware Campaign at Government Buildings, CEO of Rare Diseases Ireland Vicky McGrath said: “For our 2024 Get Rare Aware campaign, we are calling on TDs, senators and MEPs, including in Carlow, to take urgent action to expand the number of conditions screened for under newborn heel prick test screening services in Ireland. Ireland needs a comprehensive newborn screening programme that is adequately resourced to enable expansion and ensure that babies born in Ireland, including to parents living in Carlow, are screened for at minimum the European average number of 18 conditions. Newborn screening is a programme that would benefit further from European collaboration to ensure that babies born across the EU receive equal care.

“The limited services and resources available for expansion of newborn screening dramatically impacts the life of children born in Ireland, and particularly those born with a rare disease, including in Carlow. Action can be taken when health conditions tested for in newborn screening are identified early. The wellbeing of whole families will also be improved as delayed diagnosis has a significant financial and psychological impact on families.”

The heel prick — Ireland versus the rest of Europe

In Ireland, babies are screened for nine diseases at birth, which is less than the numbers screened for in 75 per cent of other European countries, including Austria, Italy, Portugal and Russia which test for a minimum of 30 conditions.

Slovakia, Ukraine, Poland, Hungary, Czech Republic, Estonia, Germany, Finland, Denmark, Norway, Netherlands and Sweden screen newborn babies for a minimum of 20 conditions.

Among the diseases newborn babies are screened for in other European countries that are not currently part of Ireland’s NNBSP are sickle cell disease (SCD), a rare blood disorder that blocks blood flow and prevents normal flow of nutrients and oxygen around the body, and spinal muscular atrophy (SMA), a rare neuromuscular condition causing progressive muscle wasting and weakness leading to loss of movement. These and over 30 other conditions are included in the National Screening Advisory Committee newborn screening work programme, however, according to Ms. McGrath, inadequate resources at the HSE remains a barrier to expansion.

Only one disease — adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID) — has been added to Ireland’s newborn screening programme in the last five years. Two conditions were added in 2018 — medium chain acyl CoA dehydrogenase deficiency (MCADD) and glutaric aciduria type 1 (GA1), which were preceded by cystic fibrosis six years earlier in 2011. Up until then, for a period of 32 years (1979–2011), the number of diseases screened for under the NNBSP did not change.

Get Rare Aware —information events

RDI is hosting online information events broken down by the country’s six HSE Health Regions over the next three months as part of the Get Rare Aware campaign. The events will bring together politicians, medical experts and patient representatives to highlight the challenges encountered in relation to expansion of newborn heel prick test screening services provided in Ireland. The events are open to the public.

The second of the Get Rare Aware information events covers HSE Dublin and South East Health Region, spanning Carlow, Kilkenny, South Tipperary, Waterford, Wexford, most areas of Wicklow and South-East Dublin. It is taking place at 12.30pm on Tuesday, 23rd April.

For more information about the Get Rare Aware campaign and to register to attend the online information event for HSE Dublin and South East Health Region, go to www.getrareaware.ie.