Calls for SMA screening ignored before Jesy Nelson campaign, say families

""I'm determined to look not just at screening for SMA, but to make much better use of genomic medicine, he said.""

""I have been trying to raise awareness of the need for newborn screening for about four years. We've written many letters to Wes Streeting so it's a bit of a kick in the teeth because he has known about it for a long time," said Portia Thorman, head of advocacy and community at the charity SMA UK."

""We have pretty much been ignored, especially by parliamentarians, and it feels like because it's a rare disease and it is not impacting the masses or impacting their votes, they have just really brushed it aside, she said.""

Jesy Nelson announced her twins had been diagnosed with spinal muscular atrophy type 1, prompting widespread media coverage and renewed calls to add SMA to newborn screening. Health secretary Wes Streeting responded and committed to examine screening and expand genomic medicine. Families affected by SMA described the response as bittersweet, reporting years of ignored appeals and long diagnostic delays. Portia Thorman of SMA UK said she and others have campaigned for about four years and written repeatedly to ministers. One family reported a newborn spent time in intensive care before diagnosis. Campaigners noted a declined invitation to view a pilot screening study.

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