Call for newborn heel prick test to be expanded to more rare diseases

Luke (4) and Seán Ryan (2). It took nine weeks to diagnose Luke with spinal muscular atrophy (SMA), a rare disease which affects around six newborns in Ireland each year.  Photo: Fran Veale/Julien Behal Photography

Ireland has "taken the foot off the pedal" when it comes to testing for rare diseases, going from being a world leader to being "leapfrogged" by other countries.

That is according to advocacy organisation Rare Diseases Ireland, who have joined families in calling for newborn testing to catch up to the likes of Italy, which tests for more than 40 rare diseases at birth. Ireland tests for nine.