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: 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?