The Martin’s experience is that early diagnosis and access to therapies is a matter of life or death. This has led them to campaign strongly for an expansion of Irelands newborn screening program to identify as many treatable conditions as possible at birth.
This campaign has highlighted the critical work to be done in this area and has helped instigate positive change.
Following their advocacy, legislation has been drafted and passed through the Senate and work is being progressed by NSAC our National Screening Advisory Committee.
The Martin family’s message is simple: screening saves lives. They want to see more urgency and progress toward the expanded newborn screening program that children in Ireland deserve. Too many have been lost to conditions that could have been treated and there are so many that could be saved. Their goal is to save future children like Cathal and prevent families like theirs from the hardship and sadness that they have been through.
Les’ four words that capture his family’s experience of living with a rare disease are "Heartbroken", "Blessed", "Resilient", and "Determined"
Photography by Julien Behal