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Enchanted voice
  1. Andrew N Williams1,
  2. Susan Walter2
  1. 1 Virtual Academic Unit, Children’s Directorate, Northampton General Hospital, Northampton, UK
  2. 2 Northampton General Hospital, Northampton, UK
  1. Correspondence to Professor Andrew N Williams, Virtual Academic Unit, CDC, Northampton General Hospital, Northampton NN1 5BD, UK ; anw{at}

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Andrew N Williams

Charlie, a young woman with spinal muscular atrophy type 2, was under my care for 10 years (figure 1). This article relates her life journey until after transition to adult services, when she turned 18 years old and what subsequently followed. The words are Sue’s (Charlie’s mother).

Figure 1


Susan Walter

When I look back over our time with Charlie, my strongest impression, and what I can remember most of all, is running in circles; having to start over and over again and still getting nowhere. What I would give to have some of that time again? However, I would hope not to have felt so dizzy having been made to run so many circles.

At 3 months old Charlie didn’t feel right, she felt very floppy. Various doctors answer, ‘She’s fine you’re feeling anxious. You have Post-natal depression—take these tablets.’ Over the next 12 months after repeatedly saying she is ‘struggling to feed’, ‘has a funny cough’, ‘not sitting up on her own’, ‘falls over but her bottom is still on the floor’, ‘won’t weight bear, won’t crawl’, I was still not believed. This changed when the health visitor called and listened. She went to pick Charlie up and nearly dropped her, stating, ‘she doesn’t feel right.’ We then saw a child development doctor who said, ‘I am not sure, but you are right. She is not developing as I would expect.’ Referring Charlie to a tertiary centre, her diagnosis was confirmed when she was …

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  • Contributors ANW had the idea. ANW and SW constructed the first draft and then together worked through subsequent revisions. Both authors approved the final draft.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.