UK Working Group for Rett Disorders

At Reverse Rett, our goal is to accelerate treatments and a cure for Rett Syndrome. With new and emerging treatments on the horizon, it is more important than ever that we work collaboratively within the UK to ensure that the necessary clinical infrastructure is in place to support the delivery of new treatments as and when they become available.

Through our work with the Rett Disorders Alliance of the UK, we have been involved with bringing together the first UK Working Group for Rett Disorders.

If you are a UK clinician or therapist interested in joining the Working Group, please contact rachael@reverserett.org.uk for more information.

3rd Rett Disorders UK Working Group meeting, 6th December 2017.

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 ED, 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.

2nd Rett Disorders UK Working Group meeting, 3rd November 2016

On November 3rd 2016, the second meeting of the UK Working Group for Rett Disorders was held in London and hosted by the Rett Disorders Alliance of the UK at the NCVO offices at King’s Cross.

The purpose of the meeting was for the Rett Disorders Alliance to share the results of the Symptom Severity Survey which was put out by the RDA in September 2016 and for the Working Group to explore ways to address the concerns raised by families who completed the survey, re what symptoms they feel are most troublesome for their child or adult with Rett, and whether these symptoms are being adequately clinically addressed or not.

As well as the presentation on the Symptom Severity Survey, which was provided by John Sharpe, Becky Jenner and Rachael Stevenson of the Rett Disorders Alliance, a presentation was also provided by Dr Kate Lievesley on behalf of Dr Paramala Santosh of the King’s College London, CIPPRD research team, who recently developed a survey on breathing irregularities in people with Rett Syndrome in collaboration with Reverse Rett.

The following individuals were in attendance at the meeting:

Edmund Jessop, NHS England, John Sharpe, Becky Jenner, Rachael Stevenson, Judith Shepphard,  Hilary Truss, (Rett Disorders Alliance) Dr Hilary Cass, Dr Adrian Kendrick, Gill Townend, Professor Angus Clarke, Dr Ram Kumar, Dr Kate Lievesley, Dr Jatinder Singh, Gilly Martin, Dr Bronwyn Kerr, Dr Robert Shane Delamont, Dr Peter Julu,  Dr Amy Blake, Dr David Hunt, Elaine Docherty.

Apologies: Dr Paramala Santosh, Prof Mike Kerr, Mr Thomas Carroll, Dr Andreas Brunklaus, Prof Sameer Zuberi, Dr Stacey Clough, Dr Alex Gibson, Dr Jane Williams, Cindy-Jo Morrison, Dr Jill Clayton Smith, Carol Anne Partridge, Martyn Newey, Dr Mallya Harish

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

At the end of the meeting, it was agreed that the Working Group will work together to produce position statements re particular issues facing patients with Rett Syndrome by June 2017.

The hope is that these position statements, although not official guidelines, will be useful tools for both families and clinicians, seeking to address some of the often complex and poorly understood symptoms of the disorder.

Some of the areas which the Working Group will seek to write position statements on are as follows:

  • Epilepsy/dystonia
  • Sleep problems
  • Breathing irregularities
  • Guidance on anaesthesia in patients with Rett Disorders
  • Clarification that Rett Syndrome is not a neurodegenerative condition

The Working Group will also seek to collate useful information  such as existing guidelines or guidance for specific Rett symptoms which may already be available to families and clinicians but which has not yet been shared in one central location which can be easily accessed by families and clinicians in the UK.*

The UK Working Group for Rett Disorders will meet again in March 2017 to assess progress.

Many thanks to all involved.

*Families or clinicians seeking existing resources/guidance for specific symptoms, please see here


First Rett Disorders Working Group meeting, 10th March 2016

This group met for the first time on 10th March 2016 and comprised of UK clinicians and therapists who have special interest and/or expertise in Rett Syndrome and related disorders. The meeting was held at Wellington House, London and was kindly hosted by Edmund Jessop, Specialised Commissioning, NHS England.

The focus of this initial meeting was to explore ways in which UK clinical provision for Rett Disorders can be improved and expanded, in particular by:

  • Developing a more cohesive clinical network with existing and emerging Rett clinicians working together to address the complex lifelong needs of people with Rett Disorders.
  • Working with NHS England to find ways to develop and support Expert Centres for patients with Rett Disorders.
  • Developing disease-specific Standards of Care or Best Practise Guidance to enable improved clinical care to patients with Rett Disorders across the country.

In attendance at this meeting were: Lorna Jaffa (Rett UK), Becky Jenner (Rett UK), Edmund Jessop NHS England, Dr Andreas Brunklaus, Mr Thomas Carroll, Dr Hilary Cass, Dr Stacey Clough, Dr Alex Gibson, Dr Adrian Kendrick, Professor Mike Kerr, Gilly Martin, Cindy-Jo Morison, Carol Ann Partridge (CDKL5 UK), Dr Paramala Santosh, John Sharpe, (Reverse Rett) Judith Sheppard (FOXG1), Rachael Stevenson (Reverse Rett), Gill Townend, Dr Jane Williams.

Apologies: Professor Sameer M Zuberi, Catherine Sim, Dr Jill Clayton Smith, Mr Martin Newey, Prof Angus Clarke

The Rett Disorders Working Group will meet again in person in October 2016. Work to drive the above agenda forward is on-going.

At Reverse Rett, we are actively seeking clinicians with an interest in Rett Syndrome and/or those who are interested in developing Rett-specific provision.

Please contact rachael@reverserett.org.uk for further information and/or to register your interest.