A life-threatening and rare disease that damages the immune system has been added to a list of conditions for which newborns are screened in Ireland, 22 months after it was first recommended.
Starting from Monday, the National Newborn Screening Laboratory can screen newborns for ADA-SCI, a rare, inherited disorder in which the immune system is damaged and the body struggles to fight infection.
Adding this disease to the eight already being screened for was recommended in July 2020 by the National Screening Advisory Committee (NSAC).
Vicky McGrath, CEO of Rare Diseases Ireland, said the long delay in adding the condition to screening put families at risk.
ADA-SCID, found among one in 78,000 babies in Ireland, is caused by a lack of the chemical which helps to break down toxins in our body’s cells known as Adenosine Deaminase (ADA).
Unless treated it can be life-threatening. Babies appear healthy at birth with symptoms only appearing weeks or months later.
“I’m delighted this disease has finally gone on the list,” she said.
She said the long wait is reflective of the need to boost funding and investment in this area.
“The delay demonstrates the amount of work that needs to be done following a recommendation, and we need to be sure that we resource that,” she said.
It is vital that the next addition to the list does not take 22 months, she said.
“Ireland was one of the first countries in the world to introduce a national newborn screening programme in 1966. We are now languishing amongst the lowest-ranked countries in the EU,” she said.
“Italy screens for 45 conditions; our failure to keep pace is costing Irish children their lives.”
A HSE spokesman said the addition of ADA-SCI followed collaboration between the HSE National Newborn Bloodspot Screening Programme with the Temple Street laboratory and the appropriate paediatric immunology clinical service.
“The addition of any new condition to the list of conditions that are screened for is a complex process, “ he said.
“This requires public health, clinical, laboratory, technical, and project management expertise in the pre-planning, implementation, and ongoing quality assurance of the programme.”
Rare Disease Ireland yesterday also published a study showing 86% of Irish parents want to know if their newborn has a rare condition, even if it is not yet treatable.
A further 65% are in favour of screening newborns for as many rare conditions as possible.
The study found 83% of parents think families with newborn babies at increased risk of a rare condition should be able to ask for specific screening tests to be included on the screening panel to ensure early diagnosis.
“Parents are hugely supportive of expanding screening,” she said. “The fact that 86% of parents want to be informed if their newborn has a rare condition, even if it is not yet treatable, shows that families recognise the valuable role that screening and early diagnosis has to play in helping them to plan for the future and to manage their child’s healthcare needs.”