Charlie and Rupert on their journey with Spinal Muscular Atrophy and Zolgensma Gene Therapy скачать в хорошем качестве

Charlie and Rupert on their journey with Spinal Muscular Atrophy and Zolgensma Gene Therapy

Rupert was diagnosed with Spinal Muscular Atrophy type 1 when he was 8 weeks old. He received the gene therapy Zolgensma, an Advanced therapy medicinal product (ATMPs), at 11 weeks old. Charlie tells us about her journey to getting a diagnosis for Rupert, the implications on her family, the support she received and her experience as Rupert received a novel gene therapy. Find out more about Advanced therapy medicinal product (ATMPs) here: https://www.england.nhs.uk/aac/what-w... 0:00 Introduction 2:22 Tell us about Rupert's condition and what that initial diagnosis meant to you as a family? 4:00 Where and how did you hear about the treatment? 6:36 How do you think awareness could be improved in future for potential patients? 8:39 Were you able to access support in making your decision? How could this have been improved ? 9:13 How did this treatment change the treatment course going forward? 11:33 What difference has the treatment made to Rupert? 12:59 As Rupert's parent/s, what difference has this treatment made to you? 13:58 At the moment, what's going well for Rupert and yourself and what could be better? 14:20 What are yours and Rupert's hopes for the future?