Families, clinicians push Minnesota to add MLD to newborn screening panel

Summary

Families who lost children to metachromatic leukodystrophy and University of Minnesota clinicians urged the Legislature to add MLD to Minnesotas newborn screening list, saying early detection enables gene therapy that can prevent irreversible decline. A bill to add MLD has been introduced in both chambers and is awaiting committee hearings.

Senator Jeremy Miller and Representative Paul Torkelson joined families and clinicians at a Minnesota legislative briefing to press lawmakers to add metachromatic leukodystrophy (MLD) to the state newborn screening panel, arguing that early detection lets clinicians treat affected infants before the disease causes irreversible decline.

Advocates described yearslong diagnosis delays that allowed children to lose motor and cognitive skills before MLD was identified. "If MLD had been on the panel Gavin's life would have been exponentially different," said Shanna Quimby, whose son Gavin died of MLD at age 5. Clinicians at the University of Minnesota, where gene therapies and specialized care are available, said tests and treatments are now ready for screening.

Adding MLD to the newborn screen is meant to identify infants before symptoms appear so they can receive gene therapy or other early interventions. Dr. Julie Isengard, associate professor and pediatric neuropsychologist at the University of Minnesota, said treated infants demonstrate developmental progress rather than the steady loss of abilities seen in untreated children. "There's no time to wait for an MLD diagnosis that…

Families, clinicians push Minnesota to add MLD to newborn screening panel

Summary

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