Father of boy (5) who died from rare disease calls for increase in screenings at birth

‘I’ve lost my son ... but that’s not what should encourage this change’, says Seán Kenny

Aidan Kenny died last year after a battle with Metachromatic Leukodystrophy (MLD).

The father of a child who died from a rare disease last year is calling for an increase in the number of illnesses that infants are screened for at birth.

“You can talk to me about the emotional side of it,” Seán Kenny says. “I’ve lost my son. I buried him last December, a five-year-old boy like, a week before Christmas. It’s just unbelievable and it’s crippling. But that’s not what should encourage this change. This change should just happen because it makes sense.”

Mr Kenny and his wife Deirdre, who are from Co Roscommon, lost their eldest son Aidan last year after a battle with a rare genetic condition, Metachromatic Leukodystrophy (MLD). Though viable treatments for MLD exist if it is caught early enough, Aidan was not screened for the disease at birth, and he did not receive his diagnosis until after his second birthday.

MLD is one of a number of diseases that families and advocates are hoping to add to the HSE’s screening programme within the next five years. The goal is part of Rare Diseases Ireland (RDI)’s Get Rare Aware campaign.


“Aiden’s story is short but vast,” Mr Kenny says. “[He] put up a tremendous battle. MLD literally crippled him, but he only let it take what it could. He still kept his own personality going throughout the whole thing.”

The heel prick test, or newborn bloodspot screening, currently screens for nine illnesses in comparison with the European average of 18. Around 300,000 people in Ireland have rare diseases.

Laura Cross was living in Canada when she gave birth to her son, who was diagnosed with Cystic Fibrosis (CF) when he was nine days old. Struggling with his breathing, he underwent a series of tests, including a lumbar puncture that took fluid from his spine to determine whether the issue was meningitis.

“That’s when the newborn screening came back and said it was cystic fibrosis and I am so grateful because, as scary as CF is, we had a plan in place,” Ms Cross says. “We could get him the medication and we could help him thrive.”

“Ireland only added Cystic Fibrosis in 2011 so that’s still relatively new,” she adds. “Any babies that came before that who had CF were diagnosed quite late and early intervention is very key with cystic fibrosis to get the medications to help your baby thrive.”

Vicky McGrath has been chief executive of RDI for almost six years. She has spent much of that time advocating for a more comprehensive screening programme.

The National Screening Advisory Committee (NSAC) was established by the Department of Health in 2019 following the CervicalCheck screening controversy. Since then, Ms McGrath explains, only one test has been added to the newborn screening panel in the HSE.

“In February 1966, newborn screening was established in Ireland. We were the first country in the world to have a national newborn screening programme – the first in the world – and yet we’ve now fallen way behind everybody else,” she adds.

The briefing event was chaired by Fianna Fáil TD John Lahart, who established an informal Oireachtas committee on rare diseases with fellow Fianna Fáil TD Pádraig O’Sullivan around three years ago.

He sees cause for optimism in the advent of precision medicine and believes a major step could be taken by getting rare diseases into the next programme for government.

In a statement, the Department of Health said the expansion of the National Newborn Bloodspot Screening (NBS) programme “continues to remain a priority” for Minister for Health Stephen Donnelly and the NSAC “has been actively progressing work in this regard”.

It said Mr Donnelly has endorsed the NSAC recommendation for the inclusion of both Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID) to the NBS programme. This would bring the number of conditions screened in the “heel prick” test in Ireland to eleven.