The youngest, Teddi, 19 months, will survive, while her little sister Nala, three years old, will not. The story of two girls being treated for metachromatic leukodystrophy, a serious progressive neurodegenerative genetic disease, is moving in the United Kingdom: the younger of the two was treated with gene therapy using one of the most expensive drugs ever administered by the British national health system, while the eldest has a worse diagnosis.
The disease has in fact already pervaded her nervous system and main organs. Upon the discovery, “our world was destroyed,” said the girls’ mother. “To hear that there were no therapies available for Nala – she explained – that our daughter would continue to lose all function and she would die as a child broke our hearts”.
The parents remain clinging to hope for Teddi: “Because of her age and her condition she could have been treated. We are deeply grateful that this therapy is available today through public health and that there is an opportunity for Teddi to live a long and normal life.”
Until last Christmas, Nala was fine: “She was a lively, very talkative, active child,” recalls dad Jake. She then had trouble speaking, and lost her balance. Teddy, on the other hand, was diagnosed after her sister.
He began treatment in June 2022, with several surgeries to correct the genetic code with stem cell therapy, followed by the administration of Libmeldy, a single infusion costing £2.8m.
“We hope that one day – conclude the Shaws – there will be a therapy for all stages of metachromatic leukodystrophy, and that this disease will be added to the exploratory tests that are done to newborns to prevent other families from having to suffer as we are suffering”.