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UK Rett Disorders Working Group update

By Rachael Stevenson

The UK Rett Disorders Working Group met on the 6th of December 2017 in Covent Garden, London. The group comprised of the following individuals:

Hilary Truss, Rachael Stevenson, Judith Sheppard, John Sharpe,  Becky Jenner (Rett Disorders Alliance) Professor Paramala Santosh, Dr Ram Kumar, Dr Adrian Kendrick, Dr Peter Julu, Elaine Doherty,  Gilly Dobson, Dr Stacey Clough, Dr Samiya Chisti, Dr Hilary Cass, Dr Catherine Bree, Dr Amy Blake

Apologies:  Professor Sameer Zuberi, DrJane Williams, Gill Townend, Dr Jatinder Singh, Dr Bidisha Lahoti, Dr David Hunt,  Dr Robert Shane Delamont, Professor Angus Clarke, Dr Andreas Brinklaus,

Our special appreciation to David Thompson MA, Reverse Rett Professional Advisory Board member, who once again very kindly facilitated the meeting pro bono.

The aim of the group on this day was to develop some key information points for GPs and families re specific Rett symptom areas.

This was no mean feat. As anyone who cares for someone with Rett will know, the symptoms are complex, multi-faceted and often inter-connected.

Treating one in isolation can often create issues in other areas, which is why it is more important than ever, that any key information points the group has gleaned from experience, are shared broadly, to empower families, GPs and other clinicians, in their efforts to adequately manage the health of individuals with Rett in the UK.

The work of the group was split across four symptom areas: General, Gastrological, Physical, Emotional Behavioural and Autonomic Dysregulation. Clinicians, therapists and patient representatives split into the groups to work together to develop and refine information points.

Later in the day, break-out groups presented their work to the wider group and group-wide discussion ensued, particularly where issues overlapped.

Patient organisation representative, Reverse Rett Executive Director, Rachael Stevenson and Rett UK CEO Becky Jenner are now responsible for writing this information up into a working document to be submitted back to the group in late January 2018 with a view to being able to share the document with families in spring 2018.