one is saved with a gene cure, for the other it’s too late – breaking latest news

LONDON – One sister will get along, the other won’t. The United Kingdom is moved by the story of two girls affected by the same extremely rare genetic disease, metachromatic leukodystrophya serious progressive neurodegenerative pathology. The youngest, Teddi, 19 months, was treated with a gene therapy which required the use of a drug which is among the most expensive ever administered by the British national health system. For his sister Nala, three years old, there is nothing more to do. The disease has already affected the nervous system and major organs. I won’t make it.

The dual diagnosis, which occurred in April of last year, destroyed our world, mom Ally stressed. To hear that there was no therapy available for Nala, that our daughter would continue to lose all function, and that she would die as an infant was heartbreaking. In immense pain, hope: Teddi could be cured due to her age and condition. We are deeply grateful – he added – that this therapy is available today through public health and that for Teddi there is the possibility of living a long and normal life.

If Nala hadn’t started showing symptoms, the disease might have remained hidden for too long. Early diagnosis instead made it possible to save at least Teddi, and this double sentence has given rise, for the Shaw family, to an immense pain that will never be only gloomy and a joy that can never be full. Until last Christmas, Nala was fine. She was a lively, very talkative, active child, she remembers dad Jake who shared photographs of the smiling and carefree family on the beach, at home, on a rowboat. Suddenly Nala began to stumble as she spoke, to lose her balance. From the first visits to the general practitioner to the verdict of the specialists: in a few weeks their life changed forever.

For Teddi in June 2022 they began interventions to correct the genetic code with stem cell therapyfollowed by the administration of the Libmeldy, a single infusion costing £2.8m which she is the first to receive for free in the UK. Today Teddi talks, plays, runs, hugs and affectionately kisses his little sister who will soon be gone. Let’s hope that one day – the Shaws specify – 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 on newborns to prevent other families from having to suffer as we are suffering.