After losing his son to an uncommon disease last year, Seán Kenny is advocating for an expansion in the range of health conditions newborns are checked for at birth. Little Aidan, aged five, lost his life just before Christmas due to a rare genetic disorder, Metachromatic Leukodystrophy (MLD). According to Mr Kenny, who hails from Co Roscommon and his wife, Deirdre, their firstborn could have been treated for MLD had the disease been detected early enough. However, Aidan wasn’t screened for MLD at birth, and was only diagnosed after he turned two years old.
MLD is one of several diseases that parents and advocates wish to have included in the HSE’s screening programme in the coming half-decade, as part of the Get Rare Aware campaign by Rare Diseases Ireland (RDI). “Aidan’s battle was tremendous and vast. MLD incapacitated him physically, but he never let it conquer his spirit,” says Mr Kenny, fondly remembering his son’s struggle.
As it stands currently, the newborn bloodspot screening or heel prick test checks for nine conditions, unlike the European average which is twice as much. Nearly 300,000 Irish individuals suffer from uncommon diseases.
Laura Cross, while residing in Canada, gave birth to her son diagnosed with Cystic Fibrosis (CF) on his ninth day. He struggled with breathing and underwent various tests including a lumbar puncture to rule out meningitis. Grateful for the newborn screening return indicating CF, Ms Cross says, “Though CF is frightening, knowing about it allowed us to make a plan. We were able to get him on medication and help him thrive.”
Vicky McGrath, the chief executive of RDI for nearly six years, has dedicated much of her tenure advocating for an expanded screening programme. She points out that Ireland was the pioneer in initiating a national newborn screening programme in February 1966, yet now lags behind other countries. She specifically highlights that cystic fibrosis was only included in the screening in 2011, emphasising that early detection is crucial for proper intervention and administration of necessary treatments in the disease.
In 2019, the National Screening Advisory Committee (NSAC) was set up by the Health Department in response to the CervicalCheck screening scandal. However, since then, the Health Service Executive’s newborn screening panel has only seen one new test added, as stated by Ms. McGrath.
Technical group Fianna Fáil TD John Lahart, who around three years prior had set up an unofficial Oireachtas committee on rare diseases along with fellow Fianna Fáil TD Pádraig O’Sullivan, oversaw the briefing. He is hopeful about precision medicine’s future and sees the inclusion of rare diseases in the following government programme as a significant advancement.
The Health Department reported that expanding the National Newborn Bloodspot Screening (NBS) programme is still a priority for Health Minister Stephen Donnelly, and the NSAC has been actively developing this aspect. Mr. Donnelly has backed the NSAC’s proposition to include Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID) in the NBS programme. The incorporation of these conditions would increase the total number of conditions screened by the ‘heel prick’ test in Ireland to eleven.