Limerick advocate warns that number of diseases screened for under Ireland’s heel prick test must double

Pictured at a briefing for Oireachtas members in Dublin on 25th June at which Rare Diseases Ireland highlighted how Ireland screens newborn babies for fewer diseases than 75 per cent of European countries were Vicky McGrath, CEO, Rare Diseases Ireland with Edwina Wrenn, Omphalocele Awareness. Photo: Shane O’Neill, Coalesce

Limerick advocate Edwina Wrenn warns Oireachtas members that number of diseases screened for under Ireland’s heel prick test must double

Limerick advocate Edwina Wrenn from the patient organisation Omphalocele Awareness joined Rare Diseases Ireland (RDI) at a briefing event at Leinster House on 25th June to warn Oireachtas members that the number of diseases screened for using newborn bloodspot screening (NBS) in Ireland, also known as the “heel prick test”, must be doubled from the current nine to the European average of 18.

The heel prick test is delivered by the HSE National Newborn Bloodspot Screening Programme (NNBSP), and 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. 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.

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Foynes local Ms Wrenn joined RDI to call for the expansion of the NBS at a briefing event in Government Buildings for TDs, Senators and Government officials 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 Limerick, 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, however inadequate resources at the HSE remain a barrier to expansion.

Ms McGrath told politicians that the Minister for Health Stephen Donnelly approved the NSAC recommendation to add a group of conditions known as severe combined immunodeficiency (SCID) to the NBS Programme in January 2023. She pointed out that the lifting of the HSE recruitment moratorium, announced by Minister Donnelly in recent weeks, finally enables recruitment to commence and work on implementation to proceed at the HSE.

There are estimated to be one to two cases of SCID each year in Ireland. Without treatment SCID is typically fatal in infancy. Early detection and treatment of SCID with bone marrow transplant or gene therapy will save the lives of affected babies, according to RDI.

Spinal muscular atrophy (SMA) is a further condition recommended for inclusion. There are an estimated six to seven children born with SMA every year in Ireland. SMA can be treated with a gene therapy that replaces the non-working gene with a working gene. This therapy is best given early in life, as permanent damage may result if treatment is delayed until symptom onset.

Ms McGrath highlighted how screening for many of the 34 diseases is already in place across Europe, and pointed out that even though decision-making criteria are similar, the NSAC requires further reviews and assessments, taking up to 18 months each, to be conducted prior to issuing a recommendation. According to Ms McGrath: “This is both wasteful of resources and denies newborns in Ireland access to care and treatment that they would receive if they were born in other EU member states.”

Rare disease diagnostic odyssey – Ireland versus rest of Europe

As part of its Get Rare Aware campaign, RDI is also highlighting 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 diseases is 6.1 years in Ireland as compared with the European average of 4.7 years.

Speaking at Government Buildings, Ms McGrath said: “With this year’s Get Rare Aware campaign, we are calling on TDs, senators and MEPs representing Limerick to bring Ireland’s heel prick test into line with the rest of Europe. The comparisons between Ireland and the rest of Europe in relation to newborn bloodspot screening and the lengthy delays achieving a diagnosis for people living with rare diseases show just how far Ireland is lagging behind our European counterparts.

“Babies born with rare diseases in Limerick deserve a better start to life, and to be provided with early access to transformative therapies and treatments that will give them the best opportunity to lead a normal life. Parents and families deserve to be empowered to care for their newborns and provide them with the chance to live their best lives.

“Government must act now and provide the resources needed to expand newborn screening and transform the lives of many more babies born with rare diseases in Limerick today, tomorrow and into the future.”

Find more information about the 2024 Get Rare Aware campaign here
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