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There followed feeding issues and over time, Emer started missing speech and language milestones and had fine and gross motor difficulties. Diagnosis enabled Malin to link with three other families in Ireland whose children have the condition, and with support groups globally. For Malin and her daughter, there followed a year of “non-stop” appointments in Crumlin children’s hospital, she says. “You are coming in with a condition they haven’t met before.”
For those who are referred to genetic services, the service is too slow, she says. “For your routine genetic query, it’s going to take about three years.” There are currently 2,856 people on the waiting list for clinical medical genetics, according to National Treatment Purchase Fund data. Some 2,418 of these are children aged between zero and 18 months.
This long diagnostic journey without sooner genetic testing is compounding HSE waiting list numbers as those with a rare disease are referred from consultant to consultant, undergoing a battery of investigations and tests. Not only is the person not getting the care they need, but they may be getting unnecessary and potentially harmful treatment, says McGrath.Ireland has five filled clinical genetics consultant posts and a further three posts are vacant.
Pictured at the launch of ‘Raise A Toastie’ For Rare Diseases Ireland are Aine Nolan aged 2.5 and Rueben Kiernan aged nine. Photograph: Sasko Lazarov/Photocall Ireland