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Thank you for pledging for a cure

Thank you so much for making a pledge for a cure for Rett Syndrome.

We will be in touch shortly with more information re how to fulfill your pledge.

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Raise for a cure

 

"When my uni friends found out about Amber we all realised we hadn't seen each other for ages - or each other's families - as life can get so hectic.  So someone suggested a re-union camping weekend where some of us would do  a 24 mile walk to raise sponsorship money whilst the families stayed at the campsite and played for the day.  About 20 families came in the end and we raised £12,000 - it was an amazing weekend as not only did we all have a wonderful catch up but everyone felt extra specially happy at the end for raising all that money.  It was also really simple, a date was fixed, a campsite booked and Just Giving sites were set up - that was it."

Sarah Starbuck, pictured above, with husband, Marc and their daughter, Amber.

 

There are literally hundreds of ways to raise money to support the drive to cure Rett Syndrome and not all of them require months of hard training.

Over the years we’ve seen people take on some weird and wonderful challenges. Who could forget Josefine sitting in a bath of beans or James running into the frozen sea on New Year’s Day?

Whether it’s a run, bike ride, swim, walk, cake bake, sponsored silence, obstacle race or something a bit crazy, set up your Just Giving page today and help make Rett history.

 

 

Want to do something but don’t know what?

Download our action pack here or contact Andy on 0161 434 8117 or by email: andy@reverserett.org.uk

 

Find out how to make the best Just Giving page possible in the PDF below.

 

 

 

Here you can find Just Giving's top ten tips for fundraisers

 

 

Host for a cure

 

"Three good friends of mine came up with the idea of organising a ball to raise funds for Reverse Rett, as they all had young children of similar ages to Eliza and they knew what effect the diagnosis had on us as a family. As we had not long found out that Eliza had Rett Syndrome, I was still finding it hard to talk to anyone about her without crying, and the thought of opening up to so many people about her condition and asking for auction prizes, organising an event and trying to sell tickets was pretty daunting. As it turned out, I needn't have worried, as our whole community came together to help in various ways, the tickets sold out within three hours, I even managed to give a speech, and it turned out to be the most wonderful evening that people are still taking about two years later. We raised over £30,000, far exceeding our expectations. But just as importantly, it brought many friends together and made us realise that we are not alone in wanting the best life for our little girl."  -Catherine McKinney, mum to Eliza

 

Progress in Rett Syndrome research has been fast and it's largely down to the efforts of affected families who have raised the majority of the funds to drive the science forward.

Hosting an event is one of the most effective ways of raising money.

Anyone can start an event - parents, grandparents, brothers, sisters, aunts, uncles and friends. An event can be whatever you envision - a picnic in a park, a happy hour at a bar, pub quiz or gala dinner. A common misperception is that you need to have wealthy connections to hold an event. This isn’t the case at all. Every event and every contribution matters.

Whether you have an idea for your event, or just want to do some brainstorming about what’s possible for you, email Beth today or give her a call on 020 8661 5901.

Beth is parent to a daughter with Rett Syndrome as well as an experienced events co-ordinator. Beth can encourage and support any ideas you have as well as offering our own tried and tested suggestions if you’re not sure which way to go.

“Planning an event can sound daunting, but it doesn’t need to be. Our support can be as ‘hands-on’ (or off!) as you wish, and we will be more than happy to come and offer our help in person both in the lead up to your event and on the day/night itself. We hope that with our focused help, it will become something which families, friends and fundraisers across the country will embrace, enjoy and excel at.'

 

Why not be inspired by others who have pledged to host for a cure already - they could be you!

Hazel Beiny, grandmother to Lotta, holding a special lunch event for her friends, featuring celebrity chef Lisa Roukin's culinary skills and masterclass.

Gill Prett, grandma to Hannah, dedicating her annual coffee morning event for friends and neighbours, to Roadmap to a Cure.

Colin Gordon, uncle to Romi, putting on his second rock and roll gig in Edinburgh on 6th May 2018, following the success of this year's event.

Kate Quigley, family friend of Amber, back by popular demand hosting her second pub quiz night after the success of the first in autumn 2016.

Kev Austin, holding five 'Saturday Session' gigs throughout 2017 at his local pub, in memory of Chelsey who sadly passed away last year. 

Emma-Louise, mum to Ellie, holding a cheese and wine night in September, also in memory of her lovely mum who was a keen fundraiser for Reverse Rett. 

Where to Find Funding

Many things your child may need SHOULD be provided by a statutory authority. If you need your house adapting, for example, the Disabled Facilities Grant is available for up to £50,000 worth of building work: https://www.gov.uk/disabled-facilities-grants/overview

If you are specifically looking for help with funding for eye-gaze equipment, you can now go through the NHS AAC hubs for referral and funding:

https://thinksmartbox.com/where-to-buy/funding/

or please go to the dedicated page on our website to find various other organisations which can help:

http://www.reverserett.org.uk/what-we-do/rett-syndrome/learning-and-communication/funding/

 

Disability Grants

http://www.disability-grants.org/

This is a website designed specifically to help you find organisations which provide funding for the thing you are looking for. Easy to use and will give you lots of options.

 

Sky Badger

http://skybadger.co.uk/money/grants

A website which breaks down all the different places which will provide grants for different items. Created by parents, easy to use, helpful in finding what you need.

 

Living Made Easy

http://www.livingmadeeasy.org.uk/scenario.php?csid=172

Another website which shows you all the different organisations which provide grants for different kinds of equipment.

 

Cerebra

http://w3.cerebra.org.uk/help-and-information/

http://w3.cerebra.org.uk/help-and-information/holiday-home/

Provide grants for equipment to help improve the lives of children with neurological conditions, as well as plenty of useful resources on their website ranging from sleep advice to legal help to a freecycle service for passing on and finding equipment. Also have a fully adapted family holiday home in Wales given to families throughout the year on a lottery basis.

 

Caudwell Children:

http://www.caudwellchildren.com/how-we-help/apply-for-support

Provide funding for a range of areas for children with disabilities or life-limiting conditions. Include grants for holidays, respite, equipment, sporting equipment, treatment and surgery.

 

Make-A-Wish

https://www.make-a-wish.org.uk/

Grant wishes to enrich the lives of children with life-limiting conditions, from holidays to meeting celebrities to equipment.

 

Family Fund

https://www.familyfund.org.uk/FAQs/what-can-we-apply-for

Provide grants to help improve the lives of disabled children. Range from sensory equipment, tablets, bedding, holidays, bikes etc. Cam be applied for once a year.

 

MERU

http://meru.org.uk/what-we-do/

Design and make life-changing equipment for children with disabilities, where no suitable product is available on the open market. Can also adapt existing equipment.

 

Roald Dahl Charity

http://www.roalddahl.com//charity/family-grants/information-for-parents

Provide grants of up to £500 for UK families who are facing financial difficulties and who are caring for a seriously ill child. Grants cover a wide range of support, including respite, equipment, communication, therapies and household bills.

 

 

 

Change is Possible form

VR Time Logging

Thank you for registering your time. We will be publishing the results on the Reverse Rett website in the next few days. Your bespoke medal will be posted out to you shortly. Thank you again for being part of making change possible.

 

Virtual Run Time Entries

Congratulations on completing the Virtual Run 2016. Enter your run or walk times below.

Thanks for your order

Thank you for ordering 'Never Give Social Workers Tea: A Guide to Surviving a Rett Diagnosis.' Please expect your guide to be with you in 3-6 working days.

Guide for newly diagnosed families

 

Reverse Rett is a parent-driven organisation, founded and still run by parents and other family members of children with Rett Syndrome.

With the help of other families of children with Rett Syndrome of all ages, we've produced

Never Give Social Workers Tea: A Guide to Surviving a Rett Diagnosis

'Never Give Social Workers Tea' is not a comprehensive guide to Rett Syndrome and all the complexities which life with Rett may bring. It's just some simple and practical thoughts on how to survive the immediate aftermath of a diagnosis, which has has been written heart-to heart, by people who have stood where you stand today.

Order your free copy below.*Please allow 7-10 days for delivery.

One free copy per person. For more copies, there is a small charge of £3 plus p&p.

Please note, if you are a parent living outside the UK, that this guide is fairly UK centric in terms of reference to services etc., but we will still send out if you feel it may be helpful in other ways. Delivery times will obviously be longer depending on your location so please bear with us.

The design and printing of this guide was funded through a generous grant from the MBNA Foundation.

Illustrations have been created pro bono by the extraordinarily talented and kind, Hazel Bee.

Order here:

 

 

Thank you for pledging your birthday

 

Thanks for pledging your birthday to help speed treatments and a cure for Rett Syndrome! We'll be in touch soon to help you get started.

 


 

Pledge your birthday

Don't fancy training for an arduous event? Donate your birthday to Rett research instead.

It really couldn't be easier to help make change possible: you can hold a party or get together and ask your guests to fill a collection bucket throughout the event, or simply set up a JustGiving page and ask friends and family to donate instead of giving cards and gifts. Much simpler than climbing a mountain!

Once you've signed up, we'll be in touch with some useful tips and ideas, or if you have any questions please get in touch via beth@reverserett.org.uk

Make your special day truly count!

Delivering treatment in the UK

Sarizotan Clinical Trial (STARS)

Reverse Rett are currently supporting the first UK clinical trial for a potential treatment for Rett Syndrome, the Sarizotan Clinical Trial (STARS) which is taking place at King's College Hospital in London, under the leadership of Dr Santosh. The STARS study is sponsored by Newron Pharmaceuticals.

Reverse Rett are supporting the study by:

  • Funding a Full-Time Clinical Trials Coordinator based at the Trial site
  • Recruiting patients from the Reverse Rett UK Patient Registry
  • Conducting pre-screening and making referrals to the trial site
  • Making travel/accomodation arrangements for families on study visits

TRIAL Project

Reverse Rett have been seed funding Dr Santosh and his team at the Centre for Interventional Paediatric Pharmacology and Rare Diseases (CIPPRD) since 2014 for their work on the TRIAL Project. Through this project, the team are working to develop new and improved outcome measures for patients with Rett Syndrome.

By using a combination approach including an online reporting tool, specifically designed for the parents/caregivers and clinicians of patients with Rett Syndrome and wearable technology, like a watch, which will gather physiological information from the patients themselves, the doctors and researchers will be able to accurately measure improvements or changes, when they are trying new and existing medications and treatments in people with the condition.

This tool will also enable clinicians to more accurately assess whether subtle adjustments in dosage can make a significant impact as well as providing better understanding of the impact treatment may have on symptoms which are typically more difficult for observers to assess.

This is particularly vital in this population where patients find it more difficult or indeed cannot communicate problems with concerning symptoms.

 

 

Clinical Provision

Aside from his clinical research work on outcome measures for patients with Rett Syndrome, Dr Santosh runs a national specialist clinic, the Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD). The focus of this clinic is on managing the secondary symptoms of a variety of conditions, with the use of medications or other approaches as appropriate. Dr Santosh is currently utilising the new technology supported by Reverse Rett, within the CIPPRD provision.

Preliminary data analyses are showing very interesting early findings of fluctuations in symptoms and/or changes in symptoms which are associated with the use of medications which until now have typically been undetectable to parents and caregivers.

For more information about how referrals to the CIPPRD clinic, please email rachael@reverserett.org.uk

 

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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.

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

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

 

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.

MECP2 Duplication Syndrome

MECP2 Duplication Syndrome is caused by problems with the same gene as Rett Syndrome.

But whilst Rett is caused by mistakes or mutations in the gene, this syndrome is caused by a duplication of the gene.

It is mostly boys who are affected by MECP2 Duplication Syndrome. The symptoms are similar to those we see in Rett; developmental delay with no or very little speech, floppiness, difficulties with feeding, seizures, mobility issues and compromised immune functioning.

The MECP2 Duplication Fund at Reverse Rett

In 2012, a parent-driven effort was established to raise funds for the initial MECP2 Duplication reversal experiments conducted at the Baylor College of Medicine. Several families pledged to raise $401each to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.

Reverse Rett supports the efforts of UK families working as part of the 401 Project by holding a designated fund for MECP2 Duplication Syndrome research.

100% of funds which are raised for the MECP2 Duplication Fund at Reverse Rett are delivered to MECP2 research focused projects every quarter via RSRT.

If you wish to support the MECP2 Duplication Fund at Reverse Rett, here is what you can do:

Donate here or

set up a fundraising page here.

PLEASE NOTE, IT IS ESPECIALLY IMPORTANT THAT IF YOU WISH TO FUNDRAISE FOR OR DONATE TO THE MECP2 DUPLICATION FUND, YOU SET UP YOUR FUNDRAISING PAGE OR MAKE YOUR DONATION VIA THE ABOVE LINKS TO THE MECP2 DUPLICATION CAMPAIGN. IF YOU NEED ANY HELP, PLEASE DO NOT HESITATE TO CONTACT US ON 0161 434 8117 OR BY EMAIL ENQUIRIES@REVERSERETT.ORG.UK

THANK YOU

Communication resources

 

 

Below there are a number of useful websites and facebook groups where you can learn more about intermediate communication for people with Rett Syndrome. Please note that this list is not exhaustive. If you know of a useful resource you would like to share with other families and professionals working with people with Rett Syndrome, please contact us.

 

 

Rett University overview of communication methods

Communication strategies for children who have Rett Syndrome: Partner-Assisted Communication with PODD by Linda Burkhart

Why we do aided language stimulation and you should too by Mary-Louise Bertram

How do I do it: Using PODD books and aided language displays by Laura Tarver

We Speak PODD facebook page

Flip-books by Suzanne Norwell can be purchased here

Flip-book video demonstration by Suzanne Norwell

 

Funding

Once you have trialled eye-gaze technology you will have a better idea of the sort of technology which is required for your child or adult with Rett Syndrome.

Dedicated eye-gaze devices can be prohibitively expensive. Below you can find some resources which may help you in obtaining eye-gaze equipment for the person you love:

 

Turn to us

Family Fund

Janki Saye Foundation

The Communication Matters website contains a list of directories for individual funding which can be found here.

 

Dedicated eye-gaze devices with high-price tags are not the only solution.

More and more Rett families are finding ways to utilise eye-gaze technology by obtaining the required component parts of an eye-gaze system, separately at a lower cost. These component parts usually include:

  • Windows tablet or computer
  • Eye-tracking camera
  • Appropriate software
  • Positioning equipment/mount etc.

Here is how one family did this.

If you are a family who have managed to find a low cost solution to providing eye-gaze technology for your child, please email us.

If you have further information about other useful resources for families seeking funding for eye-gaze equipment, please email us.

 

 

Other routes to trialling technology

Families may be able to arrange home trials of eye-gaze equipment through the companies listed below.

Please note that inclusion on this list does not constitute endorsement by Reverse Rett.

Smartbox

Sensory Guru

Inclusive Technology Ltd.

Tobii Dynovox contact sales.uk@tobiidynavox.com

Steeper

 

Independent trials may be available from the organisations below:

Independent means trials which are not provided by companies selling products or gatekeepers to statutory funding.

The Apogee Project

 

Please note that this list is not exhaustive. If you are aware of other resources which could be added to the list above, please email rachael@reverserett.org.uk

 


 

 

 

 

Statutory referrals/assessments

 

In England there is a network of Specialist AAC Services that are in place to provide specialised AAC equipment and services to people who need them.

The determination of who needs these services is not made on the basis of a medical diagnosis, such as Rett Syndrome, but on the specific needs (and abilities) of the particular individual.

There are currently 17 AAC Hubs based across England and Wales. The services the hubs offer vary from assessments and loans of equipment through to training and ongoing support.

It is sometimes difficult for families to obtain the necessary referral for their child or adult with Rett Syndrome to access these hubs to get a Specialist AAC assessment.

The NHS published new guidance for commissioning AAC services and equipment in March 2016. Page 11 of this document provides insight on how the determination whether to refer someone to a specialist AAC service is made.

 

Whilst government funding exists to support the provision of assistive technology for people who need it, unfortunately, this has not yet increased patient access to the technology, largely because there is a hugely outdated notion of pre-requisties required before a person is even able to be assessed to see if the technology is appropriate for them.

There is no evidence base for these pre-requisites. Whereas there is good evidence to the contrary.

The Tobii Dynovox “AAC Myths Revealed” series discusses common myths about AAC and the research that proves them to be inaccurate.

We understand from families in other areas of the UK that their experiences are similar to those of families in England. For more information about statutory assessment services in all areas of the UK please see here.

As this technology continues to develop and become more widely available (and less expensive), it is likely that more and more people with Rett Syndrome will have access to these devices.

But if you intend to seek statutory funding now or any time in the near future for a child or adult with Rett Syndrome, it will help you and the person you care about, if you can look at using an intermediate form of communication when trying to persuade the NHS to at first trial and then ultimately fund a device.

Here you can find links to resources about intermediate communication.

 

Eye-gaze technology

If you are a parent or caregiver of a person with Rett Syndrome, you may be keen for your child or adult with Rett to have the opportunity to use eye gaze technology.

It is important to understand that successful use of eye gaze technology for people with Rett Syndrome is an undertaking which involves much more than obtaining the necessary funds or statutory approval to buy it. It is also about making sure that:

  • Your child has access to the right seating/positioning to access it.
  • Software has been properly assessed and adapted so that it is at the appropriate level her.
  • It works with your natural environment and you can dedicate time to demonstrating and modelling the language with your child or adult with Rett.

For these reasons it is important to have your child properly assessed by someone who understands the combination of challenges facing people with Rett Syndrome.

There are several ways that you can obtain an AAC assessment for your child or adult with Rett Syndrome:

  • Statutory referral (by school or Speech Therapist) to a Specialist AAC service.
  • Trial/assessment by assistive technology provider/company.
  • Independent trial/assessment.

Once your child or adult with Rett Syndrome has been properly assessed, you may know whether or not it will help them to have a dedicated device of their own.

Here you can find more information about statutory referrals to specialist AAC centres in England.

Here you can find more information about other routes to trialling technology

If you have already had an appropriate assessment and are seeking funding please see here.

Learning and communication

 

Historically, people with Rett Syndrome have been assumed to have severe learning difficulties.

Any human who cannot use their hands, speak, or move freely is going to have trouble convincing others of their understanding.

But as more research into the underlying causes and mechanisms of the disorder are coming to light, it is more apparent that the cognitive abilities of people with Rett Syndrome have been underestimated for decades.

Presume competence

People with Rett Syndrome are often much more intellectually capable than they appear but because they are unable to communicate or ask questions their learning can become stunted, furthering the low expectations which are usually set for them.

Sometimes people, even professionals, make assumptions about the understanding of people with Rett Syndrome based on their inability to follow directions. People with Rett Syndrome have a problem called motor apraxia or dyspraxia, which disrupts their ability to make planned motor movements.

This is why someone with Rett may be able to scratch an itch or reach for something they want, but cannot point to something or pass something to us on demand. Scratching an itch or reaching for a desired item is an instinctive movement whereas responding to questions or demands involves more complex motor planning which is difficult and sometimes impossible for someone with Rett.

Research has shown that because of these difficulties and the otherwise limited repertoire of physical abilities in girls and women with Rett Syndrome, eye-gaze equipment is often the most feasible method of communication for this population.

If you are a teacher, speech and language therapist or other educator, please check out the Rett University website where you can find inexpensive online training courses and other resources related to learning and communication for people with Rett Syndrome.

If you are a parent of a person with Rett Syndrome of any age, more useful information about accessing eye-gaze technology in the UK can be found here.

 

Learning and communication

Historically, people with Rett Syndrome have been assumed to have severe learning difficulties.

Any human who cannot use their hands, speak, or move freely is going to have trouble convincing others of their understanding. But as more research into the underlying causes and mechanisms of the disorder are coming to light, it is more apparent that the cognitive abilities of people with Rett Syndrome have been underestimated for decades.

Presume competence

People with Rett Syndrome are often much more intellectually capable than they appear but because they are unable to communicate or ask questions their learning can become stunted, furthering the low expectations which are usually set for them.

Sometimes people, even professionals, make assumptions about the understanding of people with Rett Syndrome based on their inability to follow directions. People with Rett Syndrome have a problem called motor apraxia or dyspraxia, which disrupts their ability to make planned motor movements. This is why someone with Rett may be able to scratch an itch or reach for something they want, but cannot point to something or pass something to us on demand. Scratching an itch or reaching for a desired item is an instinctive movement whereas responding to questions or demands involves more complex motor planning which is difficult and sometimes impossible for someone with Rett.

Research has shown that because of these difficulties and the otherwise limited repertoire of physical abilities in girls and women with Rett Syndrome, eye-gaze equipment is often the most feasible method of communication for this population.

If you are a teacher, speech and language therapist or other educator, please check out the Rett University website where you can find inexpensive online training courses and other resources related to learning and communication for people with Rett Syndrome.

If you are a parent of a person with Rett Syndrome of any age, more useful information can be found here.

 

 

 

 

 

 

 

 

 

When will there be a cure?

If your child has recently been diagnosed with Rett Syndrome, you probably already know that the condition is most often caused by mutations in a gene called MECP2, on the X chromosome. 

This gene makes a protein, also called MeCP2 (but written differently), which is necessary for normal brain function.

Is a cure really possible?

In 2007, researchers at a lab at the University of Edinburgh were able to demonstrate that Rett Syndrome is hypothetically reversible in mice. They did by genetically engineering mice so that they could be born without functioning MeCP2 protein and with, in layman's terms, 'a switch,' which could enable researchers to switch the protein back on when they were ready.

The mice were born and quickly developed Rett symptoms after birth.

When researchers swtiched the protein back on, they found that the Rett Syndrome were reversed, even in older mice.

These experiments provided proof of principle that Rett Syndrome is a reversible condition.

Why can’t they just do what they did in mice in people?

The mice in these experiments were genetically engineered to have the switch before birth. People with Rett Syndrome do not have such a switch and therefore we have to find another way to correct the problem.

To better understand the reversal experiments, please watch the short video below:

 

What sort of research is going to help solve the problem?

Putting the protein back

We know that if we can get the MeCP2 protein back, at least in mice that the symptoms go away.

We fund research aimed at increasing these protein levels.

Improving symptoms

We know that Rett Syndrome is a reversible disorder and that many of the symptoms could be managed, either individually or in combination.

We are funding laboratory and clinical research as well as clinical trials looking into ways to treat the symptoms that our children are living with today.

Understanding the causes

We don’t know enough about the underlying causes of Rett Syndrome, which stops us being able to find rational ways to fix the problem.

We fund research aimed at improving understanding of the underlying causes of the condition so that researchers can find rational ways to fix these issues.

How long will it take?

There is no simple answer to how long it will take to deliver a cure for Rett Syndrome. The only thing we know for sure is that the answers we need will only come through concentrated scientific research.

We also know that if we fund the right research, it will very likely happen faster.

The information here is designed to be simple and easy to read. For more complex information about the science behind Rett Syndrome, please go to the Genetics 101 section of the Rett Syndrome Research Trust website where you can also find detailed information regarding your child's mutation.

Parent 2 Parent

At Reverse Rett, we know first-hand that one of the most meaningful resources for a newly diagnosed parent or indeed for any parent dealing with Rett Syndrome, is another parent living with the condition.

Reverse Rett Parent 2 Parent matches newly diagnosed parents to a trained parent mentor who can offer guidance with resources and a listening ear.

If you think a match could help you, please fill out the form below and we will be in touch as soon as possible.

UK Rett clinicians

Dr Santosh with post-doc researcher, Fedrico Fiori, alongside Reverse Rett Executive Director, Rachael Stevenson and Chair of Trustees, John Sharpe

 

UK Rett Clinicians

Listed below are UK clinicians with special interest and or expertise in Rett Syndrome.

Referrals to the specialists listed below will need to be made by your son or daughter’s GP, consultant or paediatrician.

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 or to have your name and information listed on this page.

 

Dr Hilary Cass, Consultant in Children’s Neurodisability

Evelina Children’s Hospital, Guy’s & St Thomas’ Hospital, London

Children And Young People Up To The Age Of 19

More information here

 

Professor Angus Clarke, Consultant in Clinical Genetics

St David’s Children’s Hospital, Cardiff 

Children and adults

Please note: This clinic is not able to see patients either regularly or frequently as it can only be assembled occasionally (2-3 times per year): referrals are for one-off consultations.

 

Professor Jill Clayton-Smith, Consultant in Clinical Genetics

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester

Adults only

 

Dr Peter Julu, Specialist Autonomic Neurophysiologist

Breakspear Medical, Hemel Hempsted

Children and adults

Neurophysiologist in charge at the Swedish National Rett Centre in Frösön, Sweden.

 

Dr Paramala Santosh, Consultant Child & Adolescent Psychiatrist

For management of emotional, behavioural and autonomic symptoms

Centre for Interventional Paediatric Psychopharmacology & Rare Diseases (CIPPRD)

Maudsley Hospital, London

Children and adults up to the age of 24

 

Dr Jane Williams, Consultant Paediatrician

Nottingham City Hospital, Nottingham

Children and young people up to the age of 19

 

Dr Sameer Zuberi, Consultant Paediatric Neurologist & Honorary Clinical Associate Professor, Fraser of Allander Neurosciences Unit

Royal Hospital for Children, Glasgow.

 

 

 

 

 

Newly diagnosed?

 

If your child has recently been diagnosed with Rett Syndrome, you will no doubt have many questions, about now, about the future and about what you can do to help your child.

Please know that you are not alone. Here you can find answers to some key questions that fellow parents have identified as questions they had before, after or during their child's diagnosis.

Please also follow these three important steps:

Register your child

Reverse Rett holds the only current and up to date, accurate patient registry for children and adults with Rett Syndrome and related disorders in the UK.

Registering your child with us means that we can reach out to you immediately as and when clinical trials which may be appropriate for your child become available.

The first UK clinical trials for patients with Rett Syndrome over the age of 13 are already underway. We expect that further UK trials will emerge in the next 12-18 months.

Registering your child does not mean you are giving consent for the person you care about to be part of a trial, only that you are consenting to being contacted by Reverse Rett.

You can register by filling in the form at the bottom of this page.

Talk to us

All of us at Reverse Rett are family members of a person with Rett Syndrome. We have been living with Rett Syndrome for many years and working intensively to speed treatment since 2010. Please feel free to call any of us with any questions you may have, or just to talk. Call us on 0161 413 0586 or email enquiries@reverserett.org.uk

Stay informed

There is up to date information about research and the efforts of families across the UK to help speed treatment on our website news section and social media platforms. Please have a look.

Register with Reverse Rett

The Reverse Rett Registry is an independent patient registry. The information within it is completely confidential.  We will never share your information with anyone without contacting you first.

Under the Data Protection Act 1998, Reverse Rett is committed to safeguarding the privacy of our service users. The charity is registered with the Information Commissioners Office and and adheres to the principles laid down under the Data Protection Act in processing personal data. The data you provide us with will be held securely to enable us to contact you in accordance with our aims and objectives. We will not release personal information we hold on you without your express written permission and we will not sell lists to a mailing company. Anonymised data might be used for the purposes of improving or facilitating improved clinical or medical provision for people with Rett Syndrome in the UK and beyond. If you have any requests regarding your personal information please contact us by post, phone or email rachael@reverserett.org.uk

Read our privacy policy here

 

Where your money goes

We are the only UK patient organisation currently funding Rett Syndrome research

Since 2010, we've been consistently delivering the funds you raise to the research that matters.

Don't take our word for it. Look at the tables below to see where the funds you raise have been deployed.

 

Here's how we do it:

We have one clear goal; to speed treatment.

We do this by intensively funding cutting edge research focused on our solution; driving science from the lab, into the homes and lives of the children we love.

We keep our costs low.

Reverse Rett is a small organisation working double time with minimal bureaucracy. In the effort to speed treatment for our children, there is no time or money to lose. 

We’re working to go out of business

We believe that to develop treatment as quickly as possible, the funds we raise need to push research forward today. That’s why we deliberately hold no endowment or excessive reserves, instead seeking to deploy funds raised as quickly and wisely as possible. Donor contributions are typically deployed to research projects within three months or less.

 

Read our annual reports here:

 

Annual report 2015

Annual report 2014

 

Corresponding accounts for Financial Year starting January 1st 2014 ending 31st December 2014

Corresponding accounts for Financial Year starting July 1st 2012 ending December 31st 2013

Corresponding accounts for Financial Year starting July 1st 2011 ending June 30th 2012

Accounts for Financial Year starting July 1st 2010 ending June 30th 2011

 

Get your school involved

How to get a school to help Reverse Rett

You can help to spread the word of Rett Syndrome to 1,000 people in the space of an hour! 
We have found great value in involving schools in our campaign for awareness and funds to speed treatment and find a cure for Rett Syndrome. 

Could you help to involve a school with our cause?

If you are, or know of, a pupil who has a link with Rett Syndrome – through a family member or friend – we’ve thought of some fun ways, and tried to make it really easy to help you, get your school on board…

Could your school:

Hold a non-uniform day for Reverse Rett
Hold a Krispy Kreme sale
Make us your charity of the year
Allow a representative of Reverse Rett to speak at an assembly

Why not print of this template letter (edit the bits in red!) for Rett Syndrome or this for MECP2 Duplication Syndrome and give it to the Head teacher/Principle at school? 

Writing as a parent? Try this template letter.

Let us know what response you get and we’ll help in any way we can.

Thank you your boxes will be sent shortly

UK Patient Registry

Reverse Rett holds the only current and accurate registry of patients with Rett Syndrome in the UK.

The registry is a critical component of our work to deliver treatment for Rett Syndrome in the UK. It enables us to contact the families of registered patients directly as and when the need arises re upcoming clinical trials or for help in demonstrating unmet need in terms of medical and clinical provision in the UK.

If you love or care for someone with Rett Syndrome, please register them today. It only takes minutes to register. The information submitted is completely confidential

Please note that if you live in the EU and are interested in UK based or other European clinical trials, you can also register.

Under the Data Protection Act 1998, Reverse Rett is committed to safeguarding the privacy of our service users whilst providing a personalised and valuable service.

The charity is registered with the Information Commissioner's Office and and adheres to the principles laid down under the Data Protection Act in processing personal data.

If, after reading this Data Protection and Personal Privacy Statement you choose to submit personal data, for example, by registering a person with a Rett Disorder, it is deemed that you are thereby giving your consent for that data to be held securely and processed in accordance with this statement and that you are giving your consent for us to contact you in accordance with our aims and objectives.

We will not release personal information we hold on you without your express written permission and we will not sell lists to a mailing company. Anonymised data might be used for the purposes of improving or facilitating improved clinical or medical provision for people with Rett Syndrome in the UK and beyond. If you have any requests regarding your personal information please contact us by post, phone or email.

Read our privacy policy here.

Roadmap to a Cure

 

 

A cure for Rett Syndrome is possible. Roadmap shows us how.

At the core of RSRT's plan are four cutting-edge priority approaches that are designed to cure Rett Syndrome by attacking the root cause of the disorder: MECP2.

These approaches, which will be pursued in parallel, are applicable to any and all MECP2 mutations and deletions.

Gene Therapy

Gene therapy is the most advanced of the four curative approaches and is the lead program. The concept behind gene therapy is simple: delivery healthy copies of the MECP2 gene to compensate for the mutated ones. Over the past three years the results of RSRT's  Gene Therapy Consortium have exceeded expectations. The magnitude of improvement in the mouse models of Rett is much greater than that of any drug in development and suggests that significant benefit may be achieved in people.

The Roadmap goals are to begin the first ever gene therapy clinical trial in people and to support development of improved second-generation gene therapy programs.

 

MECP2 Reactivation

Girls and women with Rett have a mutation in only one of their two copies of the MECP2 gene. Like all females, one of the two MECP2 copies is randomly inactivated. The mutated gene is active and making defective protein in approximately half of all cells in the body, while the healthy copy of the MECP2 gene in those cells is silenced. Reactivate the silent copy and theoretically Rett is cured.

There is a healthy copy of MECP2 in every cell, we don’t have to deliver it, it’s already there, we just have to find a way to wake it up.

 

RNA Editing

The possibility of editing RNA has profound therapeutic potential, but has remained largely theoretical. Focused investments by RSRT have already demonstrated the potential for correcting MECP2 mutations at the level of RNA. We are currently increasing our investment to aggressively pursue this therapeutic approach.

Goals during the next three years are to improve specificity and efficiency of editing RNA in the brain and to identify optimal delivery methods.

 

Protein replacement

RSRT is collaborating with a biotech company that has developed a technology to deliver proteins to the brain. Alternative technologies are also being developed.

 

Covering every base

RSRT's four curative approaches intervene at all three stages of the “gene to protein” process. This multi-pronged strategy greatly increases the chance of success.

Thank you for signing up for parent 2 parent

Thank you for signing up to the Reverse Rett Parent 2 Parent program. We will be in touch shortly.

Thank you for registering

Thank you for adding the person you care about to the Reverse Rett Patient Registry.

This is the only current and accurate registry of patients with Rett Syndrome in the UK and registering will enable us to contact you directly as and when the need arises re upcoming clinical trials or for help in demonstrating unmet medical and clinical need for patients with Rett Syndrome in the UK.

Please look out for a confirmation email within the next 48 hours.

Thanks once again for taking the time to register.

Our Alliances

The following organisations work closely with Reverse Rett in a number of different ways. We are honoured and grateful for their help, support and trust.

If you are interested in finding out how your organisation might work with Reverse Rett then please contact rachael@reverserett.org.uk

Our Ambassadors

We are proud of our ambassadors and honoured to have them continually support our efforts in so many different ways.

Thank you all for representing Reverse Rett

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Privacy Policy

This privacy policy sets out how Reverse Rett uses and protects any information that you give us when you use this website.

Reverse Rett is committed to ensuring that your privacy is protected. Should we ask you to provide certain information by which you can be identified when using this website, then you can be assured that it will only be used in accordance with this privacy statement.

Reverse Rett may change this policy from time to time by updating this page. You should check this page from time to time to ensure that you are happy with any changes. This policy is effective from 20th July 2012. 

What we collect

We may collect the following information:

  • name and job title
  • contact information including email address
  • demographic information such as postcode, preferences and interests
  • other information relevant to supporter surveys

What we do with the information we gather

We require this information to understand the needs of our supporters and of families of people with Rett Syndrome so that we can provide a better service and in particular for the following reasons:

  • Internal record keeping
  • We may use the information to improve our services
  • We may periodically send promotional emails about new campaigns or other information which we think you may find interesting using the email address which you have provided
  • From time to time, we may also use your information to contact you for survey purposes. We may contact you by email, phone, fax or mail. We may use the information to customise the website according to your interests

Security

We are committed to ensuring that your information is secure. In order to prevent unauthorised access or disclosure, we have put in place suitable physical, electronic and managerial procedures to safeguard and secure the information we collect online.

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Our website may contain links to other websites of interest. However, once you have used these links to leave our site, you should note that we do not have any control over that other website. Therefore, we cannot be responsible for the protection and privacy of any information which you provide whilst visiting such sites and such sites are not governed by this privacy statement. You should exercise caution and look at the privacy statement applicable to the website in question.

Controlling your personal information

You may choose to restrict the collection or use of your personal information in the following ways:

  • whenever you are asked to fill in a form on the website, look for the box that you can click to indicate that you do not want the information to be used by anybody for direct marketing purposes
  • if you have previously agreed to us using your personal information for direct marketing purposes, you may change your mind at any time by writing to or emailing us at enquiries@reverserett.org.uk

We will not sell, distribute or lease your personal information to third parties unless we have your permission or are required by law to do so. We may use your personal information to send you promotional information about third parties which we think you may find interesting if you tell us that you wish this to happen.

You may request details of personal information which we hold about you under the Data Protection Act 1998. There may be a small fee. If you would like a copy of the information held on you please write to:

Reverse Rett
The Old Parsonage
Stenner Lane
Didsbury
Manchester
M20 2RQ

If you believe that any information we are holding on you is incorrect or incomplete, please write to or email us as soon as possible, at the above address. We will promptly correct any information found to be incorrect.

Our Professional Advisory Board

We really value the time, energy and resources our Professional Advisory Board commit to the effort to reverse Rett.

A personal message for parents

There can be few things in the world more devastating than something horrible happening to one of your children. 

Rett Syndrome is especially insidious. Most of our children are born apparently well and healthy; we think everything is going to be ok, we see her changing from a tiny baby, becoming a little person of her own. We have no reason to doubt that every possibility lies before this child that we love.

Nothing could be further from the truth. This diagnosis, the loss of skills and the symptoms it brings will not only irrevocably change her life, it will rob her of the future we expect her to grow into.

In the face of such loss, many parents want to lie down and die. Many simply want to make their child’s life as comfortable as possible. Some are angry. All are scared; scared of what will happen to her next. Scared of how we will manage as she gets older. Scared of losing her. But whilst all of those things we fear seem inevitable, the science behind Rett Syndrome gives us every reason to hope that there might be a different path for our children than the one which this diagnosis has meted out to them. Rett Syndrome has already been reversed in a mouse model of the disorder; even in late stage disease. Every day, scientists funded by Reverse Rett are working on experiments focused on translating these research developments into treatments and ultimately a cure for our children.

This matters to us because we have children with Rett Syndrome too. We have stood where you are today. We have felt the same desperation, the same drive and desire to do something to make it anything other than what it is for the girl that we love. We have felt the same helplessness, knowing that whatever we do, however hard we try, there is really not much we can do to change the course of her condition.

But momentum is gathering. Treatments and cures are on the horizon. Research is expensive; Rett research is largely funded by the private efforts of people who love a girl who means more to them than life itself.

If you are reading this, that’s you. Know that you are not alone. There are families of children with Rett and related MECP2 disorders up and down the country , actually worldwide, who are doing whatever they can to take action to impact the future for their children. Living with this diagnosis doesn’t get easier but you can grow stronger.

Nothing makes you feel stronger than really doing something that you know will make the ultimate difference for the girl you love.

Rachael Bloom, Amber's mum

Co-Founder & Executive Director, Reverse Rett rachael@reverserett.org.uk

Our People

Diagnosis questions

 

A Rett diagnosis is devastating but you are not alone. Fellow parents have identified some key questions they had before, during and after their child's diagnosis:

What is Rett Syndrome and what causes it?

Rett Syndrome is a neurological or brain disorder which most often affects apparently healthy little girls around the age of 6-18 months. Early signs are autism like behaviours with the loss of speech and hand use. Your daughter might stop playing or interacting normally. Onset can be sudden or more subtle, where you can't quite remember the last time she waved or said a word. She may have unusual hand movements when she is awake; in Rett Syndrome, hands are usually clasped or held together in the middle of her body (midline) or she may wring them together or move them from hand to mouth. She may have other problems, such as strange breathing patterns, screaming episodes or sleep disturbances.

Rett Syndrome is named after Austrian doctor, Andreas Rett, who first identified the condition in 1966. It is as common as Huntington's Disease, although not very well known and occurs in 1:10,000 live female births. The condition is most often caused by mutations or faults in the gene MECP2. This gene is on the X chromosome which is why the condition most often affects girls.

There are four stages of Rett Syndrome. The condition is not degenerative as it was once thought to be. Degenerative means that there is progressive deterioration of  nerve cells, leading to cell death; this does not occur in Rett Syndrome. The condition does however, usually follow a path of progression, where skills such as speech, hand use and mobility are lost. Most girls do not speak at all. Some have a few words. Some are left with some hand use. Some girls never walk, some girls learn to walk and lose it later and a few keep walking. There is no way to predict the severity of these different symptoms.

If you think your daughter has Rett Syndrome, make an appointment with your GP or Health Visitor. Make a list of her symptoms, write down how long each one has been going on. Include everything, however insignificant it may sound but stick to facts. Explain your concerns to a friend or family member and ask them to support you by going with you to the appointment. If you can, have someone attend with you who can help you manage your child whilst you explain what is going on to the doctor. Be clear. Tell the doctor what your concern is from the outset. Print a list of signs and symptoms and take it with you and go down the list methodically explaining your concerns in relation to your child.

How is Rett Syndrome diagnosed?

Your GP or Health Visitor should refer to you a general Community Paediatrician. The Community Paediatrician will assess and investigate your daughter's condition. At this stage, they may talk about developmental delay. You may be referred to a geneticist, neurologist or developmental paediatrician for further investigation.Rett Syndrome can be diagnosed through either behavioural observation or a genetic test (DNA screening/sequencing of the MECP2 gene), or both. Sometimes the diagnosis is made through observation of symptoms and confirmed by the genetic test and sometimes the testing happens first, especially in very young children who are not yet showing clear signs of the condition. 

Although there is a genetic test, Rett Syndrome is still a clinical diagnosis. Whilst 95% of girls have one of two hundred currently identified mutations, sometimes it is not possible to identify a mutation even when girls have the typical combination of symptoms and the condition develops in a way which is characteristic of Rett Syndrome. If your daughter has a clinical diagnosis of Rett but no identified mutation, you are not alone.

 

You can find the diagnostic criteria for Rett Syndrome here

Where can I get her tested for an MECP2 mutation?

If you think that your daughter may have Rett Syndrome, explain this to your paediatrician or other clinicians you are working with as per the guidance above and request a referral for MECP2 screening.

Information about the specifics of the screening to present to your doctor can be found here.

Information about other tests/alternate diagnoses can be found here

 

Does she have brain damage?

Girls with Rett Syndrome do not have structural brain damage. In the UK, they are often assumed to have severe learning disabilities. Any human who cannot use their hands, speak or move freely is going to have trouble convincing others of their understanding. As more research into the underlying causes and mechanisms of the disorder are coming to light, it is more apparent that the cognitive abilities of patients with Rett Syndrome have been underestimated for decades.

For more information about education in Rett Syndrome please read this excellent article on the RSRT website.

Will she end up in a wheelchair?

Some girls with Rett Syndrome never walk. Some walk and lose their mobility at a later stage or slowly over time and a few keep walking throughout their lives. Rett syndrome is a disease that will progress slowly throughout your child’s life. However, the speed at which Rett syndrome progresses in a given child and the severity of symptoms can vary. 

What can I do to help her?

Girls with Rett Syndrome usually have a variety of health issues that need intervention. A large part of helping her will involve managing her condition at home:

  • Your child will need help with day-to-day activities like eating, walking and using the bathroom.
  • She might have difficulty sleeping. Help with sleep issues can be found here.
  • Many girls have trouble gaining weight. To avoid malnutrition, it’s important to monitor your child’s food and caloric intake to make sure she is getting adequate nutrients. Remember to talk to your child’s doctor about any medications or special diets that you’re considering, even if they’re termed “natural” or “herbal.”  This should alert them to developing symptoms.  Some medications, herbal therapies, vitamin supplements or special diets might also be unsafe for your child, and some can be harmful if they’re not used properly.

It's Important that your child sees specialists to help maintain and develop skills where possible:

  • Speech-language therapy to help your daughter understand spoken language better and find ways to express herself.
  • Occupational therapy may help maintain or even develop your child’s hand use and help her deal with sensory input from her environment.
  • Physiotherapy will help her maintain and develop her gross motor skills and mobility where possible

It's generally best to try to 'practice' or carry over therapy techniques at home but remember to take breaks. (Both of you)

My daughter has Rett Syndrome. Should I have pre-natal testing when I have another baby?

In 99.5% of cases, Rett Syndrome is caused by a spontaneous mutation in a single sperm. This means that in most cases, even if you have a daughter with Rett already, you are only as likely as anyone else to have a daughter with Rett Syndrome.

On rare occasions, the mutation comes from the mother's eggs. This could happen for either of the following reasons:

The mother's eggs could have the mutation, known as germline mosaicism. Any children would have a 50% chance of inheriting the gene.

The mother has the mutation in every cell but due to favourable x-inactivation, she does not have Rett symptoms herself. Again, any children would have a 50% chance of inheriting the gene.

The risk to siblings depends upon the genetic status of the parents. When the mother of an affected individual is found to have the MECP2 mutation identified in her affected child, the risk to siblings of inheriting the mutation is 50%.

Some parents chose to be tested to see if they carry the same MECP2 mutation as their daughter themselves, before undergoing amniocentesis or chorionic villus sampling (CVS) as the risk of having another child with Rett, is much lower than the risk associated with these procedures.If a mutation is not identified in a parent, the risk to siblings is low. However, germline mosaicism cannot be excluded.

What will my daughter's life expectancy be?

It was once thought that girls with Rett Syndrome would live at most into their twenties but despite the difficult symptoms, many women with Rett Syndrome are now living well into middle age and beyond. Because the disorder is not well known and has been historically difficult to manage, not much is known about the true long term prognosis and life expectancy. Whilst there are women in their 40s with Rett Syndrome, currently it is not possible to make reliable estimates about life expectancy beyond the age of 40 (1).

Is there a cure?

There is currently no treatment for Rett Syndrome. Medicine can offer only supportive measures: feeding tubes, orthopaedic braces and surgeries and seizure medications which are often ineffective.

In 2007, Rett Syndrome was demonstrated to be reversible in mice, even in mice in the late stages of the disease, showing that the disease may not be as intractable as previously thought. Current research efforts are focused on a number of ways of developing treatment, from medication to help with specific symptoms to gene therapy and other approaches which address the underlying causes of the condition. You can read more about the research we support here.

If you have a daughter who has recently been diagnosed with Rett Syndrome, this message is for you.

1. Life expectancy information taken from http://www.ninds.nih.gov/disorders/rett/detail_rett.htm

Useful resources

Useful resources for families of children and adults with Rett Syndrome

Rett Syndrome specific downloadable resources

Gastro-intestinal disorders in Rett syndrome: Checklist for clinicians on assessment and management Guidelines produced by the Telethon Institute for Child Health Research, Australia.

Growth and nutrition in Rett syndrome: Checklist for clinicians on assessment and management Guidelines produced by the Telethon Institute for Child Health Research, Australia.

Scoliosis in Rett Syndrome :A collaboration between parents, clinicians and researchers Guidelines produced by the Telethon Institute for Child Health Research, Australia.
 

Clinical Guidelines

NICE Clinical Guidelines for Constipation in children and young people

 

Support

Cerebra provides direct support to children with brain related conditions and their carers. Help includes sleep service, custom made equipment, grants, holiday home and a stress helpline (freephone): 0800 328 1159 or email: info@cerebra.org.uk

Rett UK offer professional family support services for families of people with Rett Syndrome. They have a dedicated helpline: 01582 798 911 or you can email them on support@rettuk.org

 

Benefits

Contact a family provide information about benefits, tax credits, short breaks and more for UK families of children with disabilities.

 

Education

IPSEA provides free legally based advice on Special Educational Needs (SEN)/disability in the UK including model letters for common problems.

 

These are just a few of the many resources available. If you have a resource you can't live without that you think we should share, please email us.

 

About us

About us

Reverse Rett exists for one reason only; to accelerate treatments and a cure for Rett Syndrome.

We fund scientists working on an all out cure for Rett, those who are working to develop treatments that will improve the distressing symptoms of the disorder and those researching the underlying cause of the condtion.

We work to ensure that as treatments and a cure for Rett Syndrome become viable, they are accessible to patients with Rett Syndrome in the UK.

Our history

Reverse Rett, formerly Rett Syndrome Research Trust UK, was founded by five parents who joined together in late 2009, to do what they could to impact international efforts to speed treatment for Rett Syndrome from the UK.

These parents were Rachael Bloom (now Stevenson), Monica Coenraads, Kori Dryhurst-Coates, Rita Ross and Andy Stevenson. In the early days, the organisation was run from a single laptop in the home of our now Executive Director, Rachael Stevenson and has since delivered over $5 million to Rett Syndrome research worldwide.

Since day one, we have worked in partnership with the US based Rett Syndrome Research Trust (RSRT) and other international organisations to compound a global effort to speed treatment for Rett Syndrome. We have won two Best New Charity Awards; in the Charity Times Awards 2011 and the Just Giving Awards 2012 respectively. Our small but national team is now based in Manchester.

Our partnership with RSRT

Reverse Rett and RSRT share the same aims and goals and work together to fund high quality, strategically selected research projects worldwide. Both organisations are autonomous with independent Trustees and financial co-ordination. Rett Syndrome Research Trust Executive Director, Monica Coenraads serves on the Board of Trustees of Reverse Rett and Reverse Rett Executive Director, Rachael Stevenson serves on the Board of Trustees of the US based RSRT.

Our vision

Our vision is a world where girls with Rett Syndrome are diagnosed much quicker and earlier than they are at the moment. A world where we know much more about the progression of the condition and the factors that affect that progression.  A world where at every stage of development, treatments are available to mitigate against the distressing symptoms which can occur, and ultimately a world where treatments are available which cure the condition and allow the girls to live normal lives.

Our mission

Our mission is to speed treatments and cures for Rett Syndrome and related MECP2 disorders by funding research that will have a practical and positive effect on our children’s lives.

We fund research from basic science to clinical trials, and work to facilitate the translation of this work to clinical applications for people with Rett Syndrome and related MECP2 disorders

Our people

So many people make our work possible; staff, volunteers, our Board of Trustees and our Professional Advisory Board. Meet our people here

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The first ever UK clinical trial of a potential treatment for Rett Syndrome was launched in March 2017 at King's College Hospital in London.

More treatments for different symptoms of the condition are on the horizon and so is a potential cure.

These developments are only happening because of the continued efforts of the families and friends of girls and women with Rett Syndrome in the UK who are doing what they can to raise critical research funds.

If you are reading this, no doubt you are looking for something that you can do to impact this effort. We need all the help we can get and we welcome your involvement.

If you would like to help but are not sure what you can do, please email us enquiries@reverserett.org.uk or contact us through our Facebook page.

Sign up for our email newsletter by filling out the short form below.

If you are the parent or caregiver of a person with Rett Syndrome, please also add them to the Reverse Rett Patient Registry here. This registry is the only currently active and up to date registry of patients with Rett Syndrome in the UK and is currently being used to recruit patients for UK clinical trials. The information on the Registry is completely confidential. If you care about someone with Rett, please register them so that we can contact you re relevant clinical trials and so that we can continue to demonstrate the need for UK patients to access emerging treatments and/or improved clinical provision in the UK.

Thank you.

Set up a direct debit

 

We want a cure for Rett Syndrome as soon as possible, so that as many girls and women living with Rett Syndrome today can benefit.

We receive no government or other statutory funding to pay for the research we support. The only regular funding we can rely on is regular monthly donations, most often made via direct debit.

These regular monthly gifts help to ensure that we are able to make sustainable contributions to the research projects we support on an ongoing basis as needed.

Every day, we look forward to the day we can let you know that your gift is no longer needed!

In the meantime, as you proceed to set up your direct debit via BT mydonate, please remember to tick the box that says we can contact you and tell us your address or at least your email address so that we can write to thank you for your support.

 

 

If you would like to make a regular donation by BACS transfer please email rachael@reverserett.org.uk for details.

If you prefer to donate by cheque or postal order, please send to:

Reverse Rett

Suite 2B

Paragon House

Seymour Grove

Manchester

M16 0LN

Please make cheques payable to Reverse Rett

Please download and complete a Gift Aid Declaration form to increase the value of donations you have made to us at no extra cost to you.

To learn more about Gift Aid, please click here.

To donate via direct bank transfer, please contact us:

t: 0161 413 0585  e: rachael@reverserett.org.uk

 

Thank you for your vital support.

Payroll Giving & Pro Bono

Pictured above (central), David Moore and James Seavers of Symphony Online, who have kindly provided our website and much more pro bono since we launched Reverse Rett in 2010

Payroll giving is a simple and cost-effective way to donate to Reverse Rett. Your employees or colleagues can donate directly from their salaries every month without even noticing.

By having their donations come straight from their salary before tax, people effectively increase the value of their contribution. For example each £10 donated will only cost £7.50 (assuming tax is paid at 25%). The Inland Revenue gives us the tax it would otherwise have kept.

You can find out if your employer has a payroll giving scheme by contacting your payroll department today. If they do, all you have to do is download and complete it. If they don't, why don't you encourage them to set one up. Organising a payroll giving scheme for your company can benefit so many people and so many causes and it makes you look pretty good as well:)

Pro Bono

If your company want to get even more involved with Reverse Rett why not think about offering pro-bono support? There are so many things we need help with. Whatever your skills or expertise, we welcome support from our corporate partners, or anyone who can help us improve the way we work.

Please email us if you'd like to help.

Fundraise

What is Rett Syndrome?

Rett Syndrome is a neurological condition which most often strikes previously healthy little girls between their first and second birthday and leaves them with multiple disabilities and medical complexities for life.

Most people with Rett are unable to speak, walk or use their hands. Breathing problems, feeding tubes, seizures, anxiety, gastrointestinal and orthopedic issues are common.

Research has shown that girls with Rett do not have brain damage. They know and understand much more than their bodies allow them to show - but they are locked in, trapped by a body that cannot obey signals from their brain.

Whilst there is currently no treatment for Rett Syndrome, there is hope.

In 1999 scientists identified the genetic mutation that causes Rett Syndrome. In 2007, they unexpectedly reversed the condition in mouse models of even late stage disease.

Our research efforts are now focused on translating these research developments into treatments and cures for our children living with Rett Syndrome today.

You can help.

Set up a monthly donation here to help us continue our vital work to make Rett Syndrome a thing of the past.

If you are the parent of a person with Rett Syndrome, please register your child below.

The Reverse Rett Registry is an independent patient registry. The information within it is completely confidential.  We will never share your information with anyone without contacting you first.

Under the Data Protection Act 1998, Reverse Rett is committed to safeguarding the privacy of our service users whilst providing a personalised and valuable service.

 The charity is registered with the Information Commissioner's Office and and adheres to the principles laid down under the Data Protection Act in processing personal data.

If, after reading this Data Protection and Personal Privacy Statement you choose to submit personal data, for example, by registering a person with a Rett Disorder, it is deemed that you are thereby giving your consent for that data to be held securely and processed in accordance with this statement and that you are giving your consent for us to contact you in accordance with our aims and objectives.

We will not release personal information we hold on you without your express written permission and we will not sell lists to a mailing company. Anonymised data might be used for the purposes of improving or facilitating improved clinical or medical provision for people with Rett Syndrome in the UK and beyond. If you have any requests regarding your personal information please contact us by post, phone or email.

Read our privacy policy here

Today

what can we do to help girls with rett syndrome today:

what you can do today

Knowledge is power

literature

learn about research

get inspired

raising funds for a cure? read the small print. here's ours.

Early detection

just diagnosed?

Parent to parent

Changemakers

blogs

Our research

Rett Syndrome has a single genetic cause and is one of the only neurological disorders in the world to demonstrate dramatic symptom reversal in the lab.

Reverse Rett was founded in 2010 to compound efforts to accelerate the delivery of treatments and a cure for Rett Syndrome and related MECP2 disorders.

Since we launched, we've delivered over £5 million to Rett Syndrome research working in partnership with the US based Rett Syndrome Research Trust (RSRT) towards our common goal.

This research has made great strides in understanding the underlying cause of Rett Syndrome, finding ways to treat symptoms and figuring out how to reverse the condition completely with the help of some of the world's best scientists.

But what causes Rett Syndrome and why are we so sure that treatments and even a cure are really possible?

Rett Syndrome is most often caused by mutations in a gene called MECP2, on the X chromosome. 

This gene makes a protein, also called MeCP2 (but written differently), which is necessary for normal brain function. We know from the reversal experiments of 2007, that when this protein is replaced at adequate levels in mice, the symptoms of Rett Syndrome go away.

It wasn't until 2013, that researchers found a tangible way to translate those original reversal experiments into something that could potentially work in a human with Rett Syndrome; gene therapy.

RSRT immediately launched the Gene Therapy Consortium, a group of four elite labs, bringing together their unique area of expertise in order to troubleshoot all the problems inherent with translating this complex lab work, into a potentially life-changing therapy for people living with Rett Syndrome.

Here is the Roadmap to a Cure

News

Here you'll find all the latest information on Rett Syndrome research, Reverse Rett and other news that impacts our community.

Take action

 

 

 

Research shows that cure for Rett Syndrome is possible. The scientists, ideas and technologies we need to get there are already in place.

Watch the video above to find out more about RSRT's 3 year strategic plan, Roadmap to a Cure which was launched in March 2017.

 

At Reverse Rett, we’ve pledged over £1million to help implement this Roadmap. At the same time, we continue to fund UK clinical work to ensure that as and when treatments and our cure become available, they are accessible for patients with Rett Syndrome in the UK.

 

We can’t do this without your help. Our work to date has only only possible because of the private efforts of the families, friends and wider networks of girls and women with Rett Syndrome in the UK.

Whoever you are, whatever you do, there is something you can do to take action today.

 

What We Do

 

what we do

Reverse Rett is a UK medical research charity working to speed treatments and a cure for Rett Syndrome. Rett Syndrome has already been reversed in the lab. We work to drive these promising lab developments into tangible treatments and a cure for people living with Rett Syndrome today.

Contact Us

Reverse Rett is the only UK charity currently funding research focused on accelerating treatments and cures for Rett Syndrome.

All of us are parents of daughters with Rett and we can be contacted at any time.

t: 0161 434 8117

e: rachael@reverserett.org.uk

Address:

Reverse Rett
Suite 2b
Paragon House
Seymour Grove
Manchester
M16 0LN
 

Registered Charity number: 1136809

Company Number: 07278507

For out of hours press enquiries please call:

m: 07791 307240

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The Saturday Sessions in memory of Chelsey

Location: The Golden Pheasant, 71 High Street, Biggleswade, Bedfordshire SG18 0JH
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Rhea Kara Art

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Aug

Order your ‘Change is Possible’ box

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01
Aug

Picnic on the Clock Tower Plaza

Location: Clock Tower, Herne Bay, Kent CT6 5JQ
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Swing Dance for Daisy

Location: Canterbury Baptist Church Hall, St George's Place, Canterbury, Kent CT1 1UT
19
Aug

Snowdon climb for reverse rett

Location: Snowdonia, Wales
27
Aug

Parallel London

Location: Olympic Park, London
03
Sep

Thames Bridges Trek

Location: london
09
Sep

Jeans for Genes Day

Location: anywhere in the UK
22
Sep
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