Provide funding to add Fabry disease to the newborn screening programme via the existing heel-prick test. Early detection could allow faster treatment and help identify affected families. Review the evidence and begin a process of funding the addition of the disease to the test.
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Fabry is a rare genetic disease that can cause life-threatening heart, kidney, and nerve damage. It often goes undiagnosed until it’s too late. Early detection at birth can save lives and allow families to access treatment sooner. Some countries and regions already screen newborns for Fabry and we think that we should too. As someone with Fabry, I know how crucial early diagnosis is. This change could transform care for future generations.