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The Independent UK
The Independent UK
National
Io Dodds

UNBELIEVABLE: Parents spark breakthrough gene therapy for devastating child disease ignored by big pharma - The Untold Story

Sara Margani/Blu Genes Foundation

In many ways, Siena's fifth birthday party last year was just like any other child's. There was cake, balloons, and – since it fell close to Cinco de Mayo – Mexican food, with piñatas for the children and margaritas for the adults. Siena's younger brother and younger cousin were there, alongside her parents, grandparents, and other family members.

What made the party unusual was that Siena wasn't expected to live past five years old. Just after her first birthday in 2017, she had been diagnosed with Tay-Sachs disease – a rare genetic disorder with no cure, no treatment, and no chance of survival for patients whose symptoms begin in early childhood.

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