rett news...help support us to help support you rett news · issue four/2018 · page 3 hello and...

Rett NewsSupport today, hope for tomorrow

www.rettuk.orgissue: four/2018

IN THIS ISSUE

October was Global Rett Syndrome Awareness Month

Complimentary Breaks for Our Families and Carers

Research Updates from Rome and Copenhagen

Communication Update

RETT NEWS · ISSUE FOUR/2018 · PAGE 2 HELP SUPPORT US TO HELP SUPPORT YOU

Rett News ContentsRett UK Victory House, Chobham Street, Luton, Bedfordshire LU1 3BS General Enquiries: 01582 798 910 Support Line: 01582 798 911 Email: [email protected] [email protected] Website: www.rettuk.org Facebook: Rett UK Twitter: @RettUK Just Giving: www.justgiving.com/rettsyndrome

HONORARY POSTS – PATRONS Lee Allen, Ann Clwyd MP, Dame Evelyn Glennie, Gloria Hunniford, Victoria Murphy, Jon Snow

PRESIDENT Yvonne Milne MBE

VICE-PRESIDENT Lorna Jaffa

TRUSTEES Honorary Chairman: Hilary Truss Honorary Vice-Chairman: Tim Addison Honorary Treasurer: Steve Peckham Clive Beadle, Michael Britten, Joanna Campobello, Philip Gander, Stuart Ledger, Celia Madden Peter Oliver, David Rogerson, Robert Valentine, Rebecca Walker-Date

RETT UK STAFF TEAM CEO: Becky Jenner Family Support Manager: Julie Benson Office Manager: Donna Tinch Editor: Donna Tinch Fundraising Development Officer: Gemma Turner Fundraising Support Officer: Michelle Prendergast Communication & Education Support Team: Gill Townend, Callie Ward, Abigail Davison-Hoult Bookkeeper: Becca Prince

Rett News is published quarterly by Rett UK Designers: 1st Impression Creative Ltd Printer: Creamers LtdThe views expressed herein do not necessarily represent the views of the editor or of Rett UK’s officers, members or Board of Trustees. Parts of this publication may be reproduced by permission. Note: Rett UK can accept no responsibility for items advertised in Rett News.

Rett syndrome (RTT) is a rare neurological disorder and is the most common genetic cause of severe disability in females, yet very few people have ever heard of it. Although rare, males can have Rett syndrome too. It is present from conception and usually remains undetected until major regression occurs at around one year of age, when children may lose acquired skills and become withdrawn. Genetic but largely not inherited, Rett syndrome is usually caused by a fault on a gene called MECP2 which is found on the X chromosome. People with Rett syndrome have profound and multiple physical and communication disabilities and are totally reliant on others for support 24/7 throughout their lives.

Welcome from the CEO 3Support Round Up 4Britten Tea Party Invitation 7Westminster Mile Invitation 8“My Day” Poem 9Sensory Overload? Time to take 5! 10The Old Palace Lodge Hotel 12 Family Weekend Deals 13Christmas Challenge Update 14Depression and Anxiety in Rett Syndrome 16Super Siblings 18Good News Stories Clare Milne 20 Sophie Mason 22Communication and Education Update 24Leah’s Blog 26Rett Syndrome Europe: Copenhagen 28Reasearch Update 32October Rett Awareness Month 36Art Exhibition 38Fundraising Round Up Thank You 40 Good Luck 42 Might You be a Rett Champion? 44 2019 Events 45 Other Events You Can Get Involved With 46300 Club Results 48Create a Legacy 50Make a Donation Form 51#YouMadeItHappen BC

Front Cover image: Julia McCubbing with her carers Lenny, Jen and Hayley at the Cotgrave Regional event

HELP SUPPORT US TO HELP SUPPORT YOU RETT NEWS · ISSUE FOUR/2018 · PAGE 3

Hello and welcome to the Winter Issue of your Rett News! We hope you had a lovely Christmas and New Year and managed to grab a few moments for yourself? I know this is easier said than done, we all lead increasingly busy lives, add to that the complexities of caring for someone with Rett syndrome fi nding some time out is incredibly hard but it is so important. Julie, our family support manager, has written an article on page 10 which reminds us to do just that but also gives food for thought about the impact of sensory overload for people with Rett syndrome and some tips about how to minimise it.Our last regional roadshow in 2018 was in Cotgrave, Nottinghamshire. This was really well attended by both families and the professionals involved in supporting them. We were delighted to introduce two new speakers, Dr Dan Lumsden who runs the bi-monthly Rett clinic at the Evelina Children’s hospital in London, and Dr Paramela Santosh who leads the Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD) at the Maudsley Hospital, London as well as being the principal investigator on the Sarizotan trial currently running at King’s College Hospital. Both gave very interesting presentations and were helping families understand more about why their daughter/son was behaving the way there were, as well as what may be done to help them improve. This year, we have three more regional roadshows in the pipeline for you. Please see page 6 for the dates and areas we will be visiting. In September, I was fortunate to be able to attend the Rett Rome Research Conference. A three-day event with presentations from all the key people involved in Rett research from around the world including Stuart Cobb and Adrian Bird from the UK. We have some abstract reports for you on page 32 giving some updates on gene therapy progress and challenges that lay ahead. We will bring you some more of these abstracts in the next couple of issues. In October, I went to The Rett Syndrome Europe conference in Copenhagen which included a visit to a Danish special school (not dissimilar to our schools) and also the specialist Rett Centre which is funded entirely by the government! Read more about this amazing centre on page 28. As always we are extremely grateful to all our fundraisers who give so much to support our work. The Big Give is a great example of that and we have a short report on page 14 for you following this year’s successful campaign.I hope you fi nd this issue interesting and helpful.

Becky Jenner, CEO

Welcome to our Winter Newsletter


Support Round UpBy Julie Benson

Regional Day, Midlands, Ash Lea School, Cotgrave, NottinghamshireOctober saw our final event of the year, held in the Midlands, at Ash Lea School, Cotgrave, Nottingham.A big thank you to their team for being such fantastic hosts and helping out with all the organisation that goes alongside arranging these events. Special thanks goes to Dawn Wigley, head teacher for agreeing to us using their great facilities and to Sadie and Rebecca for helping out with the practicalities before, and whilst setting up for the event.We owe a lot of the success of these events to our professional speakers, who dedicate and devote their time to helping make these days so informative and interesting for the families. We couldn’t do it without you and a big thank you to you all for your continued commitment to Rett UK.The events saw two new professionals who gave their time to share their fantastic knowledge and experience. Thank you Dr Daniel Lumsden and Professor Paramala Santosh. We look forward to working with you again in the future.At our regional events, we provide ‘care rooms’ for people with Rett syndrome and their siblings, with activities such as a petting zoo and children’s entertainers, to keep them amused and safe while you have the opportunity to listen to the presentations, hopefully without too many distractions.If you haven’t attended an event before or if you haven’t been for a long time. we would love to have you join us. Some of you may feel that now your daughters/son may be adults it may not be as useful to you as perhaps younger parents. I hope that some of the feedback below will encourage you to attend as the information and events are very useful for everyone, no matter the age.We are constantly updating our programme to ensure the topics and speakers are what you, as families and carers, will find helpful and informative. So, if you feel that we are missing some areas that would be of help to you, please do get in touch with us and we will try to adapt and cover the areas of interest. Whilst Saturdays are more family focussed, we are also really happy to welcome any professionals working with you as well, so please share the information with them too.Alongside this, we also offer a free training session for professionals, on the Friday too. This aims to raise awareness of Rett syndrome, care and management of the symptoms and a brief introduction to communication and AAC. Professionals who have attended these sessions have also found them really useful.A special big ‘Thank You’ to Grannies Tea Rooms, who donated the buffet lunch, and yummy scones.


Professional EventsSouth 22nd March Scotland 31st May Home Counties 11th October

Family & Professional EventsSouth 23rd March Scotland 1st June Home Counties 12th October

DATES FOR YOUR DIARY

Regional Events 2019 Parents/carers/siblings and

professional practitioners are all welcome to attend these

informative, entertaining days.

“Absolutely amazing day… yet again. The information we get from these family days is invaluable. There are so many questions, issues and complications that we struggle with as many health professionals don’t know about or understand. These family days answer all of these and advise and assist us on. Without Rett UK we would be lost! Thank you so much.”The Barnett’s, daughter Isabelle aged 4

“I think it is great that the meetings are smaller than the conferences when Pauline was smaller. The speakers were very approachable and friendly. I would be willing to travel to any of these events and fi nd them really useful. Truly I can’t think of any improvements as I felt the whole day was superb. The two carers I brought along were quite emotional saying it made them feel they were being taken seriously, people were listening, and we weren’t alone, thank you.” Judith mum to Pauline aged 35

“Really useful, great to hear from people with real life experience of supporting people with Rett syndrome.”Teaching assistant

“My fi rst experience of Rett syndrome training and an excellent presentation covering varied aspects. Discovering the potential of the children to learn was very interesting.”Occupational therapist


I N V I T A T I O NMichael, Wendy & Sarah Britten’s

TEA PARTYSunday 19th May 2019 ~ 2-5pm

The Old Rectory, Rockhampton, (Berkeley), South Gloucestershire GL13 9DT

There are ceiling hoists and changing tables and we also have a large, heated, hydrotherapy pool (kept at 34°C). If you and your child would like to use it, please bring towels and swimming costumes for the adult carer(s) and a swimming costume for your daughter or son with protector pants if needed. During the afternoon, we will provide buff et food and refreshments.To give us an idea of numbers, and any dietary requirements, if you are planning to come, we would appreciateit if you would please let us know:Tel: 01454 261221Email: [email protected] look forward very much to welcoming you and your families!

Michael, Wendy & Sarah Britten

We would like to invite you and your family to an afternoon tea party at our home.Some families have been before and know that it provides an opportunity to relax, talk with others who understand and share experiences, give and receive advice and make new contacts and friends.If you haven’t been to a get-together before or in a long time, it would be great to see you!Support groups provide a valuable opportunity for families to meet with others who understand what it is like caring for someone with Rett syndrome.We hope that the weather will be kind to us for the afternoon so that we can enjoy being outdoors. We have a large, child-friendly garden with play equipment.


I N V I T A T I O NSocial Get Together

THE VITALITY WESTMINSTER MILE

Sunday 26th May 2019The Vitality Westminster Mile is held on the most iconic mile in the world, starting and fi nishing on The Mall, in the heart of London, right outside Buckingham Palace.Michelle Prendergast took part in this event last year with her family, including her daughter, Cerys and they reported, “A fun-fi lled day was had by all and it was an amazing achievement for Cerys who walked the whole mile!”Michelle and her family have entered to do the Mile again this year and is inviting you all to join her as a family social get-together. Please note: This is not a fundraising event.Visit the Vitality Wellness Festival in Green Park during the Vitality Westminster Mile. It is free to all and will feature a variety of family-friendly activities.There will be spot prizes on off er, the stage will have live music and Green Park is a great place for a picnic.If you would like to sign up for the last mile you will need to enter yourselves www.vitalitywestminstermile.co.ukThis amazing event is perfect for all ages and abilities, and can be run or walked. Fun runners, families, elite juniors and seniors, and wheelchair and buggy users are all welcome (and even the family dog!). For more information, please contact Michelle by email [email protected] or call the offi ce 01582 798 910.We hope to see you there.


“MY DAY” The day would start in a bit of a rush

To get me ready for the bus. With Neil and Rick to start my day,

There is always singing and music on the way.

Then it’s school with Gill to learn some stuff , But I’d fall asleep when I’d had enough.

The time then comes to get back on the bus,Nearly home to a load more fuss.

Outside my drive the horn would beep, Come on guys, I’m trying to sleep.

Oh, here comes Gran with a skip and a laugh, She can think again about giving me a bath. Eyes tight closed, so she thinks I need rest,

She won’t wake me up, it’s for the best.

Then into my room, I can open my eyes, I’ve done it again, what a surprise.

Come on you two, get me out of this chair, Let’s get it over with, the ride in the air.

Enough is enough, I’ve heard all your tales,Oh, and don’t event think about cutting my nails. Hey, look at my face Granddad, and you will know

You haven’t put on The Shiny Show.

With everything changed, I’m tucked up in bed, All that is left now, I need to be fed. Now I can relax and lie with a smile,

‘Cause my Mum and Dad will be home in a while.

By Colin Pearson in memory of his Granddaughter, Emily Moore.

Heartfelt thanks to Emily’s family and friends for donations received in her memory.

DON’T FORGET!Please remember to fi ll in and return your data protection form asap.


Sensory Overload? Time to take 5!

We often hear from parents who say that their daughter/son often have meltdowns, which sometimes last for a few moments, hours or even days, these can be exhausting for everyone, and often it is not apparent what causes this to start or to stop. Have you considered this could be a result of sensory overload? Even pleasurable experiences can increase sensitivity, (hypersensitivity) and can be diffi cult to come down from for someone with Rett syndrome.Sensory sensitivities can include all of our senses, and the possible lack of ability to fi lter all the stimuli at the same time can cause immense anxiety.Noise may be magnifi ed, and sounds become distorted and muddled. If the person is particularly sensitive to sound, – notably background noise, which often leads to diffi culties concentrating. They can for example hear conversations in the distance, traffi c and vehicle noise, and also household equipment such as

washing machines and dryers, there may be an inability to fi lter out all the sounds.People with Rett syndrome may also experience sight disturbances which may include, distorted vision, object and bright lights may appear to jump around, and images may appear fragmented.Touch is import for social development, it helps us to assess the environment we are in (is an object hot or cold?) and react accordingly. It also allows us to feel pain. A person with Rett syndrome may experience the following:• A high pain threshold• The need to hold things and people tightly before there is a sensation of having applied any pressure.• Enjoy heavy objects, such as a weighted blanket on them• It can also happen, where a person may feel pain or discomfort from being touched, particularly on the face, hand or feet.• May experience poor body awareness, (proprioception).


One thing worth considering, in todays ‘busy world’ is what does daily life look like for you and your family?Do you have lots of activities, either as individuals, your child/adult with Rett syndrome, their siblings and as a family. Are you working hard to keep everyone busy, entertained and hopefully out of mischief?It may be time to stop and take a breather, look at exactly how much you are all fitting into one day. Have you actually remembered in this busy schedule that everyone needs some ‘down-time’ to relax, do their own thing and do nothing? Including you!You may find that introducing one or two quiet nights at home a week will give everyone in the family a chance to rest and restore.It may not be an easy process, particularly at the beginning, it can also be hard to say no to fun events, particularly at the weekend, but if you do, you may find a change in some behaviours.All of us need rest to recharge both physically and mentally.Being at school or at a day service can mean lots of activity and concentration

are needed throughout the day and often people will be exhausted by the time they get home, similar to how we may feel after a hard day at work. Having a safe and quiet place to come home to, can help maintain calm and avert full-on meltdowns.Weekends can be key to finding rest for sensory-overloaded children/adults, a time without too may time constraints, where a lie-in may be possible or just to chill in the bath or on the sofa in your pj’s. Allow time for guilt free naps, outside play and time to do fun family things like cooking meals together or going for a walk. You may even find that having some downtime at the weekends helps with the feeling ready to face the week ahead.We live in a culture where ‘more’ is the name of the game. However, children/adults need less, so walks in the woods or countryside, time to colour, read a book or just sit and do nothing. We all need this time to create and explore, to de-stress and recharge and it will benefit the whole family, who may start to feel happier and calmer for having a less busy lifestyle.

What difference do we make?Rett UK receives no direct government funding and relies entirely on the generosity of our families, their friends and colleagues in order to help us continue to provide the much needed and valued Family Support Service.We do also regularly receive funding from grants and trusts but increasingly they are asking us to tell them about the difference we make to the lives of people with Rett syndrome and their families. We would like your help to provide this information to funders in order to evidence the value and the impact of the professional support and information we provide to our families.Please email [email protected] if you have a story of support to share.


Our Patrons – The Old Palace Lodge Hotel

Complimentary breaks for our families and carers at The Old Palace Lodge Hotel Social Responsibility is important to us, we take an interest in wider social issues that have no direct impact on profi t margins, we like to support our local communities; amongst other engagements every year we select a non- for-profi t organisation as our Charity of the Year.When I read about Rett syndrome and the support off ered by Rett UK to the families aff ected, I decided to patronage this wonderful charity based in Bedfordshire. Once I had met Becky Jenner, I knew it was absolutely the right thing to do!As parents ourselves, my husband and I are attracted to helping associations dedicated to the welfare of children with disabilities, would it be by creating awareness through our marketing platforms, raising their profi le with partnership solutions or sponsoring innovative fundraising events.However, while our hotel strives to deliver excellence in all aspects of hospitality, providing business and leisure visitors with a Four-star experience, we realise that for some parents or carers of children with Rett syndrome it is a luxury they can ill aff ord, not always fi nancially but in term of deliberation, organisation and peace of mind hence we are off ering a complimentary overnight stay with breakfast for 2 parents/carers on a Sunday night. To redeem this exclusive off er, request your password from Rett UK. To book simply email [email protected] or call 01582 662 201-Opt1, quoting your password.

Victoria Victoria Murphy, Hotel Manager

What a fantastic opportunity Victoria Murphy at The Old Palace Lodge has given to our families and carers. We really appreciate this kind gesture. Some feedback from our families who have been able to use the off er:

Just want to say a huge thank you! We stayed at The Old Palace Lodge last night and had a lovely relaxing overnight stay! The room was wonderful; think they put us in one of the biggest rooms! We felt very chilled this morning. Thank you. Louise


Family Weekend Deals and Tickets to Whipsnade ZooWeekend deals are available for 2 adults and/or 2 adults + 2 children* under the age of 12 and include dinner and bed & breakfast for one night.Deals are for any month on a Friday, Saturday or Sunday night. Extended stays are available. To book contact the Old Palace Lodge Hotel on 01582 662 201-Opt1 or email [email protected]*This as an opportunity for a respite break for the parents/carers and siblings, or parents only so these offers are not suitable for children with mobility issues.

4 star weekend break2 adults – £140.00 2 adults + 2 children – £160.00 2 adults only Deluxe Room – £170.00

Elephantastic Weekend – family weekend break with zoo tickets2 adults – £186.002 adults + 2 children – £230.50


THANK YOU!We Have Something to Say!We would like to say a massive thank you for all your support during this year’s campaign. ‘We Have Something to Say!’ exceeded it’s target raising £13,444 to develop more local support with communication for our families. The campaign starts in July when we submit a project that we would like to get funding for. Once that is accepted, we then need to secure 25% of the fundraising target by the end of August in pledges. We then get matched with a Champion funder who provides another 25% of the funding and the exciting bit is in late November/Early December when online donations open and the last 50% needed is raised. We received 24 pledges and 63 online donations! Our match funder was Candis Magazine who supported us in the fi rst campaign back in 2016. Thanks to this funding, we will soon start recruiting and training, six Regional Communication Champions who will be facilitating coff ee mornings for parent carers where they can problem solve communication support issues they are having with their daughter/son who has Rett syndrome. They can share successes and failures in a safe, supportive environment with the Regional Communication Champion providing advice and guidance. The other role of the Regional Communication Champion is to organise a local group outing to some where of interest that provides a rich opportunity to practise the various communication strategies they are using so that could be a combination of no tech (establishing a reliable yes/no response). Lo tech (using printed and laminated pages of vocabulary from a communication software system) and using hi tech (eye gaze devices). Either a ‘coff ee morning’ or a group outing will be planned for every six weeks, approximately in the regions where we are able to recruit a Regional Communication Champion. We have also put in a bid to BBC Children in Need for more of these roles so we can cover more regions over the next three years. We will keep you informed of progress through our social media feeds and of course, here in Rett News.

The Big Give Christmas Challenge 2018 Update


Big Give Christmas Challenge 2017:The Black Dog and Rett SyndromeThis project, from the previous year’s Big Give Christmas Challenge, is looking at depression and anxiety issues in people with Rett syndrome with the aim to develop training we can deliver to parent carer’s and support staff in how to recognise the symptoms and provide strategies to help alleviate them. This project is very much ongoing. It did take us longer than expected to get the survey right but it was important to invest time in this so we could capture people’s experience that would help shape the training. We have had a good response but we still need some more completed questionnaires please. If you haven’t yet completed the survey you can do so on line here: www.surveymonkey.co.uk/r/WCVR96D If you would like a paper copy, please email [email protected] and she will post one out to you.We then aim to deliver the training at our regional events this year as well as other places including residential and respite homes which people with Rett syndrome are using.Please see page 16 for more details.Thank you

Farewell and Good Luck

It is with sadness that we said goodbye to Patrice at Christmas.Patrice has been with Rett UK since 2012 and was a

valued member of the family support team. As well as being extremely popular with families, her ability to empathise with people was a great asset and one that we will all miss.Patrice is moving on to pastures new and will be working nearer to home which will mean less time commuting.We wish her all the best in her new role and for the coming year ahead.Thank you, Patrice.

December also saw us say goodbye to Gillian Bartlett, who joined us just a year ago in 2018. Gill helped with our events arranging

and planning, both regional and communication events. Gill has left us for personal reasons and we hope 2019 brings for her all that she hopes for.Thank you, Gill.

CHANGE OF DETAILS?Don’t forget!

If you move home, change your phone number or email address, please notify us at [email protected]. Thank you!

Please can you help us understand more about these debilitating aspects of Rett syndrome by completing our survey?

The survey aims to capture more detailed information about the daily lives of people with Rett syndrome, of all ages, to help us understand more about the possible causes of the high levels of anxiety and depression they can experience.This new piece of work by Rett UK, funded by The Big Give Christmas Challenge 2017, will:• seek to identify the possible and likely causes of depression and anxiety (in all ages) to minimise the risk of problems developing;• train staff in how to support someone with Rett syndrome to maintain their physical and mental well-being;• and recognise signs/symptoms of depression and anxiety allowing carers to intervene before things deteriorate further.This is particularly important for the older people with Rett syndrome who are now reaching mid-life. Additional challenges present such as dealing with the long-term effects both physically and mentally of living with the disorder, inevitable changes to their personal circumstances faced with ageing parents, bereavement and transition to residential or supported living from a home environment. Research shows that depression is more prevalent in people with Rett syndrome than other learning-disabled communities. However, little is known about how to keep them mobile, engage and communicate with them, support them through a transition or a bereavement.This survey is the first step in gathering information which will help us understand how depression and anxiety presents in people with Rett syndrome. It will help us to understand more about their physical and mental well-being, their activities and their overall happiness.We will analyse the results and summarise the finding of this questionnaire in a report.We hope to be able to develop recommendations that support the mental health and well-being of people with Rett syndrome, have them reviewed by our key advisors and then provide training to families and support staff.

DEPRESSION AND ANXIETY IN RETT SYNDROME


Anticipated OutcomesThe project will support the mental and physical well-being of people with Rett syndrome and improve confi dence of carers in being able recognise the signs/symptoms of anxiety and depression to facilitate early intervention.The survey takes around 30 minutes to complete.If you would like to complete a survey, they can be accessed on line via www.surveymonkey.co.uk/r/WCVR96DOr if you would rather a printed copy posted to you then please contact [email protected] or telephone 01582 798 911

DEPRESSION AND ANXIETY IN RETT SYNDROME

Can you spare just

30 minutes of your time?


Could you be a Regional Ambassador for Rett UK?To support our goal of increasing the reach and scale of our work, we wish to establish a stronger regional presence. This will include developing our regional days, local support groups and regional ambassadors, who may be parents/family members/carers or friends of someone with Rett syndrome. The Regional Ambassador roles are fl exible volunteer positions, with paid expenses. There is an expectation that each Ambassador would be able to attend up to three events per year on behalf of Rett UK, which may involve talking about our work. There is not an expectation on the Ambassador to organise the event but just to be able to attend and speak, if required, about Rett syndrome and the diff erence that Rett UK makes. Sometimes Regional Ambassadors may be asked to speak to the local press and TV and use social media to help raise awareness, spread campaign/appeal messages and encourage others to become involved.

If you think that is something in which you might be interested, please call Becky at the offi ce, on 01582 798 910, for an informal chat.


October, Rett syndrome Awareness Month, saw us acknowledge how fantastic, siblings can be.We were delighted to see everyone nominated either through our Facebook page or those who completed the nominations forms. Every sibling is ‘super’ and special so we were not able to choose an over all winner, so here are some of those who took part to say a special thank you to each and every one for being a ‘SUPER SIBLING’.We would like to acknowledge that every sibling is truly unique and amazing, showing such care and devotion, you are all really SUPER too.

Emily & Bobby SmithCharlie & Georgia Woodward

Laochra & Darci Conn

Indie and Summer Giles-Wyatt Abigail & Nicole Nabal

Taylor & Eva Smith

Maisy & Isabelle Barnett

Lily, Jacob & Charlie Gaskell

Pauline & Amy WorrallKevin & Daisy Mae Ryan

Emily & Oscar Thomson

Lacey Mae & Olivia Stevenson

Ryan & Charlie Woodward

Ruby-Louisa & Lili-Rose Longman

Esme & Patrick Davison-Hoult

HAVE YOU OPTED IN?IMPORTANT!Update your details NOW! Dont' miss out on future issues of Rett News!Changes to data protection regulations require you to OPT IN in order to continue to receive our information. We also need to ensure that you have specified HOW you would like to receive that information.

Thank you to everyone who has returned their forms or completed online. For those who haven’t yet responded, we urge you to do so as soon as possible.

If you require a copy of the form, please contact Donna Tinch on 01582 798 910 or email [email protected]

Alternatively, you may complete the ONLINE form at www.surveymonkey.co.uk /r/RettUKContact

Thank you for your support.



Good News Stories

DON’T LEAVE IT TO CHANCE! by Yvonne Milne MBE

I want to share with you something that has been very helpful and has made a significant difference so far to the management of our daughter Clare’s, (now 38 years old) chest infections. These have, in the past, resulted in pneumonia and long hospital stays, (to be avoided, if at all possible!) As you may know, pneumonia is one of the greatest threats to the long-term health and well-being of our Rett people, whatever their age. Over time, we have found that what we needed was a written plan, (it is referred to as a respiratory protocol) to spot the early signs of illness and to respond speedily with agreed actions, before things start to deteriorate. Such a plan is particularly useful if your daughter/son doesn’t live at home with you all the time and may have numerous people involved in her/his care who will need guidance.Clare can go for long periods in good health, but deterioration is rapid once she becomes ill. This protocol works for Clare’s respiratory problems, but the principle could easily be used for other problems, such as seizures, for example. I’m pleased to say that (so far!) since we have used this respiratory protocol for a few years, Clare has not had to be admitted to hospital for treatment.The important point to bear in mind when putting together such a protocol is that it needs to have input and agreement from all the medical team who are involved. In Clare’s case this was her respiratory consultant, her chest physiotherapist, her GP, the manager of her residential home and of course we parents! It takes time to

Yvonne and Clare Milne


get it right, but well worth it. It will then need to be reviewed if there are any changes in the condition, or if anything crops up as you use it.Clare’s respiratory protocol has the following guidelines and is in two parts: (1) preventive and (2) for an active infection. The medications listed are specifically prescribed for Clare and not necessarily therefore suitable for everybody. For example, Clare can become wheezy and medication is prescribed for this.The guidelines below outline what you might use in a written protocol for respiratory problems1. Preventive treatment, to be followed during periods of good health• The use of a prophylactic antibiotic during the winter months, daily Mucodyne syrup (Carbocisteine,) to keep mucus secretions more fluid and easier to cough up and Fostair inhaler, which is used as a maintenance treatment (asthma)• If coughing becomes unusually frequent, observe Clare carefully and take temperature regularly• If temperature is raised, secretions are difficult to clear and Clare appears unwell, notify chest physiotherapist and GP immediately2. An active chest infection• If a chest infection is confirmed, stop prophylactic antibiotic and start “rescue” medication immediately (antibiotic specifically for chest infections, kept in store at residential home and family home, to be available for immediate use. This avoids inevitable delays, particularly out of hours and at weekends when own GP is not available)• Increase dosage of Mucodyne syrup to help keep secretions fluid and make it easier to cough• Use of nebuliser for saline or salbutamol inhalation when needed• If Clare becomes distressed, unable to cough adequately/has a weak cough and mucus is pooling in the back of her throat, consider the use of yankauer suction, to help clear the airway (only carried out by staff trained specifically in its use and working to strict guidelines)• Ensure regular changes of position with alternate side lying, particularly during the night• Sitting upright whenever possible to assist breathing• Chest physiotherapy by physiotherapist and/or trained staff• Monitor closely for any signs of deterioration, taking temperature regularly until condition improves• If there is a marked deterioration don’t hesitate to take emergency action (111/999 call)

PLEASE NOTE: This protocol is specifically for Clare. I have described it to share what has worked well for her, it is not for universal use or application. Each person with Rett syndrome will need to have her/his individual one to meet her/his specific needs and developed in consultation with all involved in her/his care.


My daughter, Sophie, is 17 years old and started her AAC journey two years ago when a local charity came into school to assess Sophie’s suitability for using eye tracking technology. It could not have gone better as Sophie understood immediately, she was in control as she fl ung custard pies at the faces that appeared on the screen. The school secured a large 32” screen static device for Sophie. The future was amazing, and our hopes were high. At the end of each term I would dismantle the device and bring it home for the holidays. At fi rst Sophie was thrilled with playing games to practice using the eye tracking. Each holiday, I would watch Sophie become less engaged and bored playing games on the device. There was no progression to more challenging programmes or communication and I was at a loss who to turn to. Sophie was the fi rst and only child with this technology in the school and staff had no previous experience to help. It was at this point an email from Rett UK arrived…My husband and I signed up for the October ‘Getting Started with AAC’ course. I didn’t allow myself to get too excited considering our previous experience. That completely changed as the fi rst day unfolded. Callie and Emily are wonderful tutors, starting with the basics and explaining everything so clearly with the help of slides, videos and hand-outs. I never felt out of my depth at any point. I did however feel a tumult of emotions, shame – why didn’t I know this already? Guilt – why wasn’t I doing this with Sophie? Foolish – why did I put my trust in the ‘experts’? Euphoria – the future is amazing (even though I’d been there before!). We rushed home to put our learning into practice.We started at the beginning with the ‘best yes’. Sophie has a confusing array of ‘no’s’. A fi rm ‘no’ for no. A cheeky ‘no’ for maybe and a weak ‘no’ for yes. We videoed our conversations with Sophie, which was an awkward hurdle to get over at fi rst. We have recorded and watched so many conversations with Sophie I’m now completely comfortable watching myself and listening to my Liverpool accent. Scouse AAC! Watching the videos over and over we spotted a blink before Sophie answers with her exaggerated no’s. We tried asking Sophie questions and saying ‘you blinked was that a yes?’ as soon as she blinked and before she started to shake her head. Literally overnight we had secured a ‘best yes’ and Sophie was so relieved. Our only problem now was Sophie had dropped all her exaggerated movements and her yes and now was so subtle we have to look very closely.

OUR AAC JOURNEY by Julie Mason

Sophie Mason with her Dad and Callie Ward

RETT NEWS · ISSUE FOUR/2018 · PAGE 22


We were given a communication record sheet to complete during the term of the loan device. This could have been a chore to be quite honest but reading it back it’s hilarious. I’m clearly over excitable about using the device and was repeatedly put in my place by Sophie. I have dreamed of conversations with my daughter but they hadn’t included the phrases ‘please stop talking’ and ‘I need a break’. Neither was I prepared for the pain of brutal honesty from Sophie when she said she was mad with Dad for not taking part in a conversation and how bored she was of school work (I will expand on this).We were encouraged to use low tech aids and were given laminated sheets of words and symbols along with a booklet. I was less interested in these low-tech aides initially, but they proved their weight in gold. On arriving at her grandparents’ house Sophie became upset so we tried the booklet which we had hung on a string to her wheelchair. Selecting the help page using partner assisted scanning (I can use this term smugly as I learnt what it meant on the course) Sophie told us she was thirsty. It took less than a minute to securely understand what Sophie needed than go through a protracted process of elimination and maybe not get the right answer. The low-tech aides have become my preferred option when Sophie is upset as they are so quick to use.The day we returned the device was bitter sweet. Worried how we are going to secure a high-tech device for Sophie without giving everyone IOU’s for Christmas weighs heavy on our minds. We took Sophie with us to visit Callie at Rett UK, to give her an opportunity to thank her and show off her new skills.

We’d love to hear more of your Good News stories. Please share your son’s or daughter’s achievements with us here at Rett UK.

Whilst at the meeting we chatted about literacy and how I suspected Sophie could read but I had no idea how to confirm this. To my shame I had previously suggested to Sophie she wasn’t able to read and she had become very upset. Callie simply asked Sophie ‘do you read some words as well as looking at the picture? Sophie replied with a clear ‘yes’. Callie produced an alphabet booklet and asked Sophie would she like to spell. ‘Yes’ came the next reply. I held my breath whilst Callie showed Sophie the pages of letters. M. U. M. Blinked Sophie and Callie wrote the letters. I thought my chest would explode with pride. My daughter’s first written word was Mum. Callie asked if Sophie wanted to continue, an E was added to make ‘mume’. A phonetic ‘Mummy’! I had worried in the past if I was treating Sophie like a baby for referring to myself as Mummy, but I am proud to say Mummy is my title. Sophie was exhausted but wanted to continue. Sophie’s second word was ‘daad’ (Dad). My daughter can read and spell. Clearly when Sophie told us school work bored her, she was not being cheeky but honest. She is capable of so much more and is not being challenged. Looking back on the Class Dojo communication App we use with school it is painful to see Sophie looking bored in so many photographs.Part of me feels that I should hang my head in shame for not knowing my daughters’ capabilities, but I am elated and looking forward to our amazing future. That future starts on Monday with the urgently arranged meeting with school where Sophie’s Education and Health Care Plan will be torn up, especially the bit about twenty minutes of eye gaze per day.


Communication and Education UpdateBy Callie Ward and Gill Townend

Callie ready for the kick-off day at the Royal College of Speech and Language Therapists

London kick-off day

Liz Campbell sharing Jess’s story

Sheffield kick-off day

UK Network for Speech and Language Therapists working with people with Rett SyndromeWe are delighted to announce that this new network was successfully launched in November 2018. Gill Townend and Callie Ward presented an introductory webinar on 5th November which was attended live by 54 Speech and Language Therapists, with the recording watched by a further 60 after the event. This was followed by two full-day kick-off meetings led by Gill and Callie. The ‘south’ event in London was attended by 40 SLTs and the ‘north’ event in Sheffield by 13. Many more SLTs have also joined the network even though they were unable to attend either of these days. We would like to extend our thanks to Liz Campbell, Mum to Jess, who also came along to present Jess’s story. We now are now planning a series of webinars for the network in 2019, an annual study day, regular newsletters and an online Q&A/discussion forum for SLTs.If you are an SLT working with a child or adult with Rett syndrome or a Rett-related disorder and would like to share your experiences and learn from the experiences of colleagues, then you are welcome to join our network! New members are always welcome. If you are a parent/carer, please tell your SLT about the network. To find out more, contact [email protected] or use this link to complete the network registration form: https://goo.gl/forms/NSNRMh8MxTHAgaJ93


Some quotes from the kick-off days:

Really enjoyed the day and found it very informative and made great connections for joint working. Thank you!

A great opportunity to meet with other professionals and develop my understanding of Rett syndrome, thank you!

When asked what were the most useful parts of the day…

The morning sessions were really helpful as well as the case studies! Hearing about recent research was informative.

Discussion of the guidelines and the evidence base behind this, discussion with other SLTs about practice with people (with) Rett and different viewpoints.

Some quotes from the webinar feedback:

Thanks again – a very informative session with a good mix of polls, information and videos.

Fantastic webinar. Looking forward to more.

Fantastic webinar – thank you! Great to have the recording too. Very informative.

Living on an island makes it difficult to travel to network days. I’d be keen to continue to link in with webinars and would be interested in any video conference options for study days.

DATES FOR COMMUNICATION SUPPORTThis year we will continue to run our popular two day AAC events. These are an opportunity for those who are getting started along their Augmentative and Alternative Communication (AAC) journey or for those who are a bit further along to come and learn and practice the skills needed to support someone to use AAC.Day 1 is a full training day for parents, carers and professionals, while day 2 offers one-hour communication groups to attend with the person with Rett syndrome. There is also an opportunity on day 2 to loan an eye gaze device for 6-8 weeks.We are able to run six of these events a year. In 2019 the plan is…Kent/Sussex 24th & 25th January Yorkshire (York) 25th & 26th MarchSouth (Chichester) 23rd and 24th May Wales (Cardiff) July Scotland SeptemberHerts, Beds & Bucks November

We are also running some local coffee mornings and communication groups with our Regional Communication Champions. These are currently being piloted in London/Essex and the Midlands, but we plan to roll them out further as more communication champions are trained. The next coffee mornings are:London/Essex 30th JanuaryMidlands 7th February

For booking on these events and more information on upcoming AAC training days, communication groups and coffee mornings keep an eye on the Rett UK Facebook page as well as the Rett UK events page www.rettuk.org/events and use the ‘communication’ filter or call the Rett UK office for more information on 01582 798 911.


Leahs’ BlogHere Leah, who has a sister with Rett syndrome, and is a super sibling, shares her brilliantly written blog...

Equipment at homeAs my sister cannot move herself, she needs a lot of equipment so that she can be moved around. When she was younger, my sister didn’t need much specialised equipment, as we could use baby, toddler and young children’s mobile equipment. However, now that she is much older, bigger and heavier, some of the apparatus that she needs has to be fitted for her. These include her wheelchair and her AFOs.

The biggest change that we made was adapting our house, so that my sister could have a bedroom and bathroom downstairs. The layout was designed so my sister’s bedroom is just off the family room, so that she is close to the rest of the us. It also means that she can be wheeled out to us quickly, and she can also hear us from her bedroom. We also wanted all the surfaces in the kitchen to be high enough so that my sister could fit underneath it in her wheelchair. Due to my sister getting a bigger wheelchair, we will have to change our car, as our current one is not wheelchair accessible.My sister is currently borrowing a Tobii, which is a really useful way for her to communicate with us as a family. I had a go on the Tobii myself, and I was surprised by the fact that an incredible amount of concentration has to be used in order to use if properly. My sister uses the Tobii a lot, so it must really make her concentrate whenever she uses it. Though it may be a challenging piece of equipment, the Tobii means that my sister can join in with our conversations, and it also means that we can ask her open-ended questions and she is able to answer them. It’s a really helpful piece of equipment, as it means that my other sister and I can have conversations with her about her day, and they won’t be one-sided.As she cannot stand by herself, my sister has a standing frame, which she uses daily. The frame helps to improve her posture and strengthens the muscles in her body that she would otherwise be unable to use. She doesn’t really enjoy the frame, and I notice that she seems to find it harder as she gets older, but in order to keep her engaged she is normally allowed to watch her favourite TV show and the frame helps, so that she doesn’t slouch when sitting.A few years ago, we bought a swing for our playroom. It was actually meant for my sister, but my other sister and I and our friends had a lot of fun on the swing. Honestly, I think that my other sister and I used it way more than my sister did! We also have a hammock that was originally meant for my sister, but as a family we


use it a lot as well. We hang it up in the garden throughout summer, and all five of us have fun playing on it.My sister has a special bed, and it has a remote control that: raises the height of the bed and changes the position and shape of the mattress. Me and my other sister were quite young when the bed first arrived, and we thought it was one of the coolest things ever! We spent ages and ages playing ‘flying carpets’, and ‘aeroplanes’. The real use for the bed’s technology is so that whoever is transferring my sister into her bed doesn’t have to strain their back. My sister also has a special bath that also lifts up and down, which is also for the carers’ benefit.When my sister first got her hoist, my other sister and I really wanted to try it out. We basically thought that it was some sort of swing attached to the ceiling! When some of my friends came over to my house, even they had a go on the hoist, and it was great fun. They thought it was so cool that my sister could be taken straight from her bed into the bathroom, without her having to be carried by someone.Now my other sister and I are older, we don’t play as much as we used to, but we do enjoy trying out and amuse ourselves with the exciting new equipment that my sister receives.

HealthMy sister always seemed healthy and happy when she was very young, and was able to eat solid foods with her hands. However, as she grew up, she lost some control over her hands, and was not able to pick things up as easily as she used to. Eventually, she had to be spoon-fed, though she was still capable of digesting solid foods.Nowadays, my sister has to be fed through a tube in her stomach, as she suffers from silent aspiration. Before she had the operation for the tube, she had to be fed through a tube that went in her nose, down her throat, and then into her stomach. It was a very uncomfortable experience for her, and she was in constant discomfort, especially as the tube had to be taken out and replaced frequently.This time last year, she was very ill with pneumonia and a clouded lung. She stayed in hospital for just under a month, and was in there for both her birthday and my dad’s birthday. She has had a couple more hospital stays since then, but thankfully none of them have been worse than the longest one. My sister’s hospital stays were always quite difficult, especially for my parents. My dad has a full-time job, and my mum has a very busy daily schedule. My parents would usually alternate the overnight stays, so that the other could rest properly at home.For me and my other younger sister, we were often looked after by someone else each evening after school, until my dad would come and pick us up to go visit the hospital. I struggled slightly with finishing my homework, as I would normally spend most of the evening at the hospital. I became a lot more tired as my sleeping hours decreased, and I found it hard to concentrate at school out of worry and fatigue. However, during this time I did become less reliant and more independent, as my parents were attending to my youngest sister and did not have much time for me.My youngest sister is much more healthy than she was a year ago, and it means that our entire family is able to relax more, though we have to be very cautious about our health and hygiene as to not make her ill again.Until next time…


Rett Syndrome Europe meets in CopenhagenReport courtesy of Laura Kanapieniene, Caroline Lietaer, Stella Peckary and Yvonne Milne

Rett Syndrome Europe (RSE) held its general assembly on 26th October 2018 to present the activity report and to discuss future plans. This year’s GA meeting took place in Copenhagen, Denmark. Our friends from Landesforeningen Rett Syndrome hosted the meeting and kindly arranged the organisation of the two days To make it more interesting, two visits to a special school and a Rett Centre were organised for the participants.We began the day by visiting Kirkebaekskolen special school (www.kirkebaekskolen.dk) which is unoffi cially called a Rett school as it has 12 students with Rett syndrome (RS) – over 68 students in total, all with very complex special needs. We spent around two hours in the school and got a chance to see the environment, talk with the specialists and students as well.The fi rst thing that anyone can notice in this school is how amazingly well it is equipped, starting with the whole project of the building, which was created thinking about the special needs of the students, and fi nishing with the enormous amount of all possible technical equipment. It seems that they have thought of everything: a bright and spacious building of only one fl oor that doesn’t have a single step; every classroom has its own direct exit to the garden that surrounds the building; a warm hydrotherapy pool inside the school; visual support for students in every possible way; modern wheelchairs, standing frames and other mobility equipment; therapy rooms full of activities; computers; eye gaze communicators which belong to the students. Speech therapists work with the students individually a special learning program.


one hour of individual work with PT and one hour with OT a week. These individual work hours may be raised to four hours a week if a child had a surgery (to manage scoliosis or hip problems etc.). School performs tests and evaluations of children’s abilities, invite doctors every year to provide consultations on site, provide recommendations and adjustments of aids for families, work closely with orthopedists who also arrive to the school to provide and adjust corsets, orthopedic shoes, orthoses for hands, arms or feet for the children. We’ve also learned about the ways PT tries to manage scoliosis, the great work occupational therapy (OT) does on evaluating oral motor skills of Rett children and much more. Although most of the children have complex health difficulties, the school does not have nurses as part of the staff team. If a child has a specific medical need, staff are specially trained to deal with it.The schooltime is from 9am-3pm or 5pm and includes lunch. Children only bring snacks from home.The question was raised about what happens to the Rett people when they reach school leaving age. The school is able to keep them on for a few years,

The school is funded by the government, it’s clear that the children and their special needs comes first in Denmark. But even the best equipment would be nothing without the specialists that work there. This school has one adult per two children ratio in their personnel. There are nine physiotherapists and eight occupational therapists. During the second part of our visit to this school we got a chance to sit down and talk about the specifics of their everyday work with Rett children.Apart from other educational activities, Rett children every week get one hour of group work with physiotherapy (PT) as well as going to the hydrotherapy pool. On top of that each child also gets

Danish Special School


you can apply for three more years but access to all the services of OT, PT, etc. is restricted. This is a problem we have in a many countries.Kirkebaekskolen school has left a very good impression not only because of amazing technical equipment, but more importantly because of the knowledgeable and dedicated personnel who do everything in their power (and beyond) to make the lives of children with RS and their families easier.Full of positive impressions we moved to the Kennedy Centre to talk about a small, yet very important Centre for Rett Syndrome, which is a part of a hospital and is financed by the government. Here we listened to the presentations about the activity of Danish RS association and the research conducted at Centre for Rett Syndrome. This Centre follows Rett patients (120 in total) lifelong once a year with a complex evaluation. They also provide counselling and support for families and professionals. After the visit to the Centre for RS, schools or other care institutions contact the Centre for RS to organize a local visit and discuss the findings, future work methods and directions as well as follow up. Special attention is given to life-changing

situations (like diagnosis, changing from kindergarten to school, turning 18, etc.). The Centre also performs research that emerges from the clinic and practice.Such a Centre for RS is undoubtedly important because it concentrates deep and complex knowledge. This is later disseminated to the families and targeted specialists who work directly with a specific patient daily, thus maintaining the quality of services and life.With a kindly envy to our Danish friends for their wonderful system, we move on to the GA and reports of the RSE activity. GA was attended by representatives from 15 European countries: Austria, Finland, Denmark, Spain(+ Catalonia), Italy, UK, Lithuania, Poland, France, Portugal, Russia, Finland, Sweden, Germany and Hungary. We had also as observers Anne-Marie Bisgaard (Rett Center Denmark), Helena Wandin (Rett Center Sweden), Dr Semino Martina (Airett Italy)The RSE board is full of energy and worked very hard this year. The Activity report was presented by Caroline Lietaer, president of RSE. You can find the Activity Report: www.rettsyndrome.eu/association-rse/minutes-etc

Kennedy Centre Rett Team Caroline Lietaer


The Rett Resource project has been successfully online for a few months now. With the help and close cooperation of volunteers, namely Laura Kanapieniene, Tim Addison, Tim Lang, Laura Luisaityte and Andreas Meissner…. RSE provides some articles already in Croatian, Dutch and LithuanianThere was also a proposal by Danijela Szili to create RSE Subcommittees. This is an option, as set down in our statutes. This proposal prompted interesting discussions. We were very happy to hear all the comments and suggestions. The proposal was accepted in principle but there is a need to adapt it in accordance with the members’ wishes. The outcome will be presented at the next GA meeting. A number of RSE members volunteered to help with various projects and tasks during the next year. Daniela Szili will be the contact person for all proposals and volunteers for other tasks of RSE.A new project for this year will be the mapping of the Rett Centres or Centres in Europe, where there is great expertise in Rett syndrome. This project was launched at the GA and will be coordinated by Laura Kanapiepiene together with the RSE Board. An online questionnaire will be sent out to the relevant Centres.

The scheduled Rett database videoconference with Dr. Alessandra Renieri unfortunately couldn’t take place due to technical problems. The Italian Association Airett (Dr Semino Martina) presented their ongoing project ‘Amelie’ aimed at developing a new software for eye-tracking technology which is created for Rett people. It takes in to consideration their specific problems, with the aim of enhancing their learning and communication skills.In the evening, at the end of the day’s Rett business, Iben and Soren Hjarsø, parents of Friderikke, who has Rett syndrome, generously invited all those who had attended the GA to their home, which is close to Copenhagen. We were spoiled with a fabulous candlelit dinner of Danish dishes, beer and wine. Discussions centered on family stories, continuing improvementsof the communication of our girls, the different types of schools in European countries and the huge gap between school and day care centres for older Rett people. As we all spoke English – naturally with an individual accent of the native language – the evening had a very familiar and cosy ‘hyggeligt’ atmosphere.The next day, Rett mum Louise Lund led a private tour for us, through the ancient city of Copenhagen, telling some interesting historical anecdotes.Finally, it was time to bid our farewells, but with the promise of meeting again next year in Tampere, Finland.We would once again like to take the opportunity to say Thank You to the Danish Rett Syndrome Association and the Danish Rett Centre for the warmly hosting and fantastic organisation of this important European Rett event.We would like to announce that our next European conference will take place on 27th-28th September 2019 in Tampere, Finland: www.rett2019tampere.fiKennedy Centre Presentation


Research Update

Rett Research Conference Rome 2018Rett Rome 2018 took place from 27-29th September and gathered 170 participants from four continents and 17 different countries.The aim of this very well organised scientific meeting on the 27th and 28th was to provide a platform for discussion on recent advances in basic, translational and clinical research on Rett syndrome (RTT). The meeting also intended to promote and foster collaborations.The Saturday was dedicated to parents and families and included lay summaries of the most interesting sessions of the scientific meeting.Key Speakers included: Adrian P. Bird, Stuart Cobb, Walter Kaufmann, Steve Kaminsky, Joost Gribnau, Jeffery Neul, Alan Percy, Alessandra Renieri and James Eubanks.Members of the Scientific Committee who were responsible for the very good selection of abstracts

were: Juan Ausio, Francesco Bedogni, Angelisa Frasca, Nicoletta Landsberger and Enrico Tongiorgi.One of the Key Note Speakers was Stuart Cobb, Edinburgh University, who gave an update on gene therapy in Rett Syndrome.The gene therapy goal is to deliver healthy copies of the MECP2 gene with the viral vector to compensate for the mutated one in one shot. The AAV9 viral vector is the same as in Avexis gene therapy cassette for RTT and has already been used for some other rare neurological disorders in a clinical trial and has proven to be safe. MECP2 protein is not a neuron specific protein but in the case of the RTT, the main target is the central nervous system (CNS). MECP2 levels vary throughout the body but when lacking in the CNS they cause the biggest problems. The more cells you can correct the greater the benefit of the therapy but there is a Goldilocks principle here. Too little or too much MECP2 can cause problems; the amount has to be just right amount which is a real challenge for gene therapy. Too much of MECP2 can cause a MECP2 duplication syndrome with similar neurodevelopmental symptoms as RTT. The healthy copy of the gene cannot be selectively introduced just in the cells with a mutated copy of the MECP2 gene. If it is introduced in the cell which has a healthy copy already, there will be too much MECP2 which can be toxic.


Gene therapy cassettes for RTT that have been developed until know have a narrow therapeutic window and too much of the virally introduced MECP2 (transgene) can cause liver toxicity and peripheral neurotoxicity. The future developments are aiming at “de targeting” the liver.Optimization of gene therapy cassettes can be done in different ways. One of them is the use of a MINI gene which is 1/3 size of MECP2 and this makes it possible to build additional safety features in the cassette. Even with these improvements the gene therapy, at the moment, it gives sub-optimal results and is not nearly as successful as a reversal experiment. As mentioned before, the reason for this is that higher doses lead to overexpression which can be toxic.Better vectors are needed that can target the brain more effectively. Some are in the developmental phase with good results on mouse models and hopefully, can be used in the future providing better gene therapy cassettes for RTT.Another method is trans-splicing, bypassing disease-causing mutations and RNA editing. Both, may in the future, offer superior forms of gene therapy. Trans-splicing is safer as you can’t get over expression of MECP2 but it can bring up levels in mutant cells. It doesn’t deliver the whole gene but part of the gene. Looking further ahead, RNA pinpoint gene (base) editing or site-directed RNA repair of endogenous MECP2 RNA in neurons (Gel Mandel working on this) might be able to solve these problems.The most probable way of administrating the gene therapy in clinical trials or in the clinical practice would be intrathecal or intravenous.Conclusions:• Concept of reversibility demonstrated for RTT (MECP2) which offers a profound genetic rescue• Not a critical time to intervene to rescue MECP2• There is only one shot at delivering a working copy of the gene and if it goes wrong there is no going back. • Still not sure whether on a cognitive level you can improve things• Other approaches include reactivation of the healthy copy of cells MECP2Many thanks to Danijela Szili, Rett Syndrome Europe for the basis of the report. We will be featuring more highlights in future issues of Rett News. If you would like to read some of the abstracts you can do so here www.rettsyndrome.eu/ wp-content/uploads/2018/10/Rett-Rome-Abstracts-2018.pdf

Mini Gene Slide


Rett syndrome: Closing the gap to clinical trials Alan K. Percy Civitan International Research Center and Department of Pediatrics, University of Alabama at Birmingham, USA Since identification, nearly two decades ago, of mutations in the gene for most individuals with RTT, advances in basic and clinical research have been astonishing. Expansion of the number of clinical trials involving potential disease-modifying pharmaceutical agents has been quite dramatic. Further, replacing the aberrant gene or reactivating the normal gene offers the greatest potential for ‘cure’. Recent progress in gene replacement suggests that such clinical trials are feasible. As a precursor to such trials, a thorough understanding of the complex clinical picture represented by mutations in MECP2 is essential. We know that the MECP2 gene exerts important neurobiologic influences, as already described, from a very early age. As such, we must be mindful that efficacy of clinical trials is likely to depend on the impact of such mutations on both developmental progress and secondary changes such as seizures, scoliosis, and other medical issues. Therein lies the rub. The effect of any treatment strategy in a one year-old could be very different from that in a five, ten, or twenty year-old. This is because the natural history of RTT provides a remarkable pattern of changes in physical and cognitive abilities and raises important medical issues. In this regard, natural history studies (NHS) are essential precursors to effective clinical trials. Results from the US NHS which has been gathering information for more than

twelve years, as well as similar studies from Europe and elsewhere, offer some insights. Results from the US will be presented in some detail as well as important gaps in knowledge such as meaningful biomarkers and outcome measures. The utilization of varied approaches including gene-based, pharmaceutical, and neurohabilitation-based strategies may be essential. This will

require expertise, as it has to this point, from multiple disciplines to achieve the desired goal of reversing the impact of this devastating disorder. Lest we forget, the support and involvement of families affected by RTT is integral.

CHANGE OF DETAILS?Don’t forget!

If you move home, change your phone number or email address, please notify us at [email protected].

Thank you!


Clinical trials in Rett syndrome: A critical appraisal Walter E. Kaufmann Emory University & Mind Institute University of California Davis, USA RTT is experiencing a revolution in treatment research. Multiple therapeutic strategies, based mainly on targeting neurobiological mechanisms underlying MECP2 deficiency, are being tested. Although most preclinical and clinical studies focus on abnormalities downstream of MECP2, new approaches targeting the gene are beginning to emerge. In fact, the first trial attempting to deliver a functional MECP2 using a nonreplicating adeno-associated virus (AAV) capsid system is scheduled for the near future. At present, most completed and ongoing drug trials have studied general modulators of synaptic function and neural metabolism, as well as drugs that influence specific neurotransmitter systems (most of which are abnormal in the evolution of RTT). Only drugs related to IGF-1, either the full-length molecule or the active peptide, have reported positive results. Effectiveness has been in general modest and variable in terms of symptom targets. Nonetheless, a phase 3 trial of trofinetide, a modified form of the IGF-1’s active peptide, will be the first pivotal study in RTT and is planned for early 2019. These milestone trials bring hope and opportunities for affected girls and women affected by the disorder, and have provided valuable information about study design and implementation. Nevertheless, some of the challenges previously experienced in clinical trials for other neurodevelopmental disorders such as fragile X syndrome have also emerged in RTT intervention studies. The most important is the limited number of appropriately validated outcome measures and biomarkers. These are critical measures for adequate selection of cohorts and, more important, for detecting positive response to treatment in early stages of drug development. As the RTT field moves into phase 3 trials, the shortcomings of outcome measures continue to be an issue. Another major concern in RTT is the evolution of the disorder, which suggests that targeting the developmental regression period will be the most effective way to modify the course of the disease. Identification of patients at early stages and interpretation of treatment effects during regression represent major challenges. The potential availability in the near future of therapies that can substantially improve multiple symptoms, or affect the progression of RTT, represents an important achievement in the field. In order to sustain the progress in RTT translational research, an appropriate balance between development of outcome measures and biomarkers and implementation of clinical trials needs to be found. It is also critical to balance expectations and realities, so the RTT community can cooperate more effectively in the development of new treatments.

October was... Global Rett Awareness Month 2018

In October, Becky was delighted to be able to attend this incredible Halloween event in Pitstone, Buckinghamshire and she was amazed at how much work went in to it all. Huge thanks to Peter and Lin Howarth with family and friends for putting on the most amazing and bone chilling, spooky Hallowe’en display and fantastic trick or treat experience. The Howarth family are long-time friends of Rita and Frankie Ross and they have created the haunted house outside their home for the last few years to raise funds for Frankie but this year it was for Rett UK. Lin said: “We met the Ross family four years ago and their gorgeous daughter, Frankie, who has this cruel condition, and saw the opportunity to turn our fun into an annual fundraiser. We are now in our fourth year and our event has become more popular - one lady has her grandson come and visit from London to see us! “Frankie lights the room with her personality and excitement and seeing her face on the night is just heart-warming.” A fantastic £421.75 was raised on the evening. Thanks to everyone involved.



Pamela Monti held a coff ee morning in honour of her great-niece, Rosalie and raised £150.

Natalie Nicholson organised ‘Sweat for Rett’, an evening of Zumba classes in honour of her daughter, Chloe and raised £500! Big thanks to all the Zumba teachers (Brunet, Karine, Debi and Vicky) for giving up their time to run the classes.

Rett UK held their own cake sale at their offi ces at Victory House. Thanks to Michelle Prendergast for organising and her daughters Summer and Daisy for baking some yummy cakes to sell.

Claire Cologne; Above Claire enjoys a well-earned drink and below, Claire and Amy

Rett UK cake sale

Claire Cologne undertook The Pennine Way Challenge for Rett UK and in support of her friend, Amy Kitson’s London Marathon fundraising target. The challenge was to cover 108 miles in three days and Amy, mum to Emily, met Claire each day at 6.5 miles and ran back with her, doing a half marathon herself! Claire smashed her fundraising target and raised £1,954.00 plus £408.50 Gift Aid.


ART EXHIBITION in aid of Rett UK by Abigail Davison-Hoult

Late July 2019 and there’s a call from my brother Josh. He wants to know if he can stage a fundraising event for Rett UK. His idea? To put on an art exhibition and hold a blind sale of the pieces. Oh, and he wanted Esmé to contribute a painting too. Let me explain further: in the early noughties, my brother and his friend founded a street art ‘zine called Pavement Licker. Its aim? To give artists and writers a platform to showcase their work and give them a step up in their careers. The ‘zine has featured Banksy, Kelsey Brookes, Shephard Fairey and Jamie Hewlett. Josh has made A LOT of contacts. To give you an idea, he has Banksy’s phone number.This exhibition was in conjunction with Helium London, a private art dealership. Fifty artists – great and small – were asked to donate an original piece. All artwork was to be done on a concrete paving slab, then framed and displayed. There would be one evening where the work was exhibited. For £1,000, prospective buyers could buy one of the pieces. The catch? They would not know which one they were getting. It could be the Anthony Gormley (valued at £40,000 on the day of the exhibition) or it could be an unknown up and coming artist.

Three weeks later and I had forgotten all about it when a large crate containing a concrete slab arrived. After priming and sealing it, Esmé and I set to work. Using her eyegaze device, she selected her colour palette: red is her current favourite colour so it included shades of red plus some metallics. She has retained some hand use so was able to do most of the painting herself, using her device to let me know which colour she wanted to use next. The result was a vibrant sunset style piece of art. Using her eyegaze again, she named it “I Like It”.We shipped the fi nished piece back to Helium London and waited…The exhibition took place in early October. Josh, his Pavement Licker co-founder Duff y and Helium London director Jen had pulled it off ! Of the

Esmé creating her masterpiece


of Josh for having the idea and pulling it off in such a short time. And Esmé’s painting? It hangs alone as a statement piece on our lounge wall.

50 artists, 49 had sent their completed slabs back. Number 50 was Esmé’s. The 49 pieces of art had all sold. Myself, my husband Anthony, Esmé and her brother Patrick went down to London for the day for a pre-viewing. They had hung Esmé’s painting next to the Gormley and covered it with fabric for a big reveal. The gallery was empty other than us and the people involved. Esmé loved it! She adores Josh and she is very particular about art. Both children loved seeing all the diff erent pieces: there was a huge range of styles and ideas displayed over two huge rooms. Josh, Duff y, Jen and I matched the buyers to the pieces using those plastic balls they use for the football draw. Numbers 1-49 had been allocated to buyers once they had paid. We drew out the artist names one by one. It was like the most expensive raffl e draw ever! Buyers included Ant and Dec, Holly Willoughby, Tottenham Hotspurs bought fi ve for their new stadium and many private art collectors. I stayed on for the evening; the proper exhibition. There was a huge attendance including Rett UK Trustees and team members. Prosecco and gin fl owed freely, and I grabbed every chance to tell whoever I could that my daughter painted that picture, and explain about Rett syndrome. Some hospital doctors who had come along knew little about Rett syndrome so I was able to put them straight. There were also books from the event that had been produced and helped raise even more money.All in all, the exhibition raised the huge sum of £53,000. We are so very proud

and her brother Patrick went down to

adores Josh and she is very particular Esmé and Josh at the art exhibition

Esmé’s painting takes pride of place at home


THANK YOU TO YOU, AND YOU AND YOU...A really big thank you to all of our incredible fundraisers.

During the year members of The SteelBoys and Volvo Trucks raised a huge amount of awareness and funds in honour of their friend’s daughter, Daisy. Steve Evans and Ryan Senior told us, “We are delighted to donate £2,635.00 to Rett UK in support of their work.”During the year, Jonathan Taylor and The Stony Stratford Tuesday Night Charity Curry Club Quiz continued to raise donations in honour of Jonathan’s daughter Lily. Becky Jenner said “Thank you so much to everyone for the wonderful and generous continued support with this monthly event. Special thanks to Jonathan and Naidni restaurant for all their hard work in organising and raising to date £17,474.21.”The amazingly talented Helen Smith has been tirelessly fundraising for Rett UK since 2016, in loving memory of her dear friend’s daughter, Alison. Helen decided to start fundraising for Rett UK 50 months before her 50th birthday and has raised £7,000 to date.Kelly Dimmock and her son, Joe, completed the Dudley Trail (20 miles) in honour of Kelly’s daughter, Amy and raised £145.50 + £23.00 Gift Aid.Quinten Gilmore completed the Killarney Quest Triathlon in Ireland, in honour of his sister, Kirsty and raised £1,054.00 + £137.50 Gift Aid.Congratulations to Abby and Pud Flynn who recently married. They raised donations totalling £150.00 in honour of their friend, Charlie Woodward. Pete Davis also asked for donations to Rett UK in lieu of birthday gifts for his special birthday and raised over £500, in honour of Rosie.

Fundraising Round Up by Donna Tinch

THANK YOU

Johnathan and Lily Taylor

Helen Smith

SteelBoys

Abby & Pud Flynn


Rosey’s candles

Stephanie Morgan

Megan Booth

Megan Gambles and friends

Phoebe and her family

Thank you to Megan Gambles and her friends (and Megan’s mummy Sally) for their brilliant support. Here is the lovely letter Megan sent into us with the donations they raised with their sponsored walk: “Dear Rett UK, I wanted to let you know that I have completed my challenge. Yesterday I walked seven miles around Pitsford Reservoir. It was a lovely day if a little bit cold but sunny. It was great walking round with my friends and it took us two hours and 35 minutes. We’ve worked very hard collecting sponsors and we have raised £226.50 + £46.25 Gift Aid. I just wanted to say thank you for all your hard work in supporting people with Rett syndrome. I know your support is very important to families like my cousin Phoebe. Lots of love, Megan x.”Megan Booth, a student at Toot Hill School and College told us: “Throughout the past year I have been raising money for Rett UK, a charity which was introduced to me when I started working with Olive Beaumont. Olive is an 8 year old girl who has Rett Syndrome, and I was given the chance to help and work with her. I support her when she is a Brownies by helping her take part in her own unique way, and this has allowed her to make some amazing new friends. Olive has taught me so much, and I am so grateful I was given the opportunity to work with her. With the help of my friend Emily Pritchett, I managed to raise £1,146.45 for the charity - couldn’t think of a better place to donate it!”Rosey Dimond’s hobby is recycling candle ends into new candles, which she then gives to or sells at both her parish’s two churches. The parishioners bring their unloved candles and candle ends, and unwanted votives to church for Rosey to recycle. Rosey held two candle sales at Christmas and raised £323.50, in honour of her cousins daughter, Jessica. Rosey told us “it’s such a shame to throw them into landfill when they can be reused relatively easily and cheaply which helps the environment all whilst raising funds for Rett UK!”Stephanie Morgan bravely undertook her first skydive, in honour of her friend, Shannon and raised £500. Stephanie told us: “It was AMAZING! I loved it!”


You can now donate through Facebook!We are really pleased to announce you can now donate to Rett UK through Facebook.In the first four weeks alone, £1,100 was raised through donations given via Facebook and due to the increased popularity of donating online, we anticipate this will be set to grow.You can make a one-off donation and can also set up a fundraising page for your special event or challenge really easily. So far we have been receiving donations in lieu of birthday cards and gifts but there are lots of ways you can choose to support us.How do I donate online?Click the ‘Donate’ button which sits underneath our profile photo on Facebook. When you click on this button, it will take you to payment page where you fill out your details as you would for any online transaction. For a full guide and Question and Answers, visit donations.fb.com

Emily and her sisters, Charlotte and Chloe

To Our Wonderful Fundraisers...

GOOD LUCKLondon Marathon

Congratulations to Amy and Brian Kitson who secured places in the London Marathon 2019 running for Rett UK in honour of their daughter, Emily. We wish them all the best with their training over the coming weeks and look forward to cheering them on, on race day! www.justgiving.com/AmyandBrian

Brighton MarathonThe best of luck to our Brighton Marathon team:Fern WilliamsonRobert ParsonsTom Gander, running in honour of his niece, Hana www.justgiving.com/fundraising/tom-gander

We still have 2 places for this this beautiful, flat, fast coastal run. Perfect for first timers or a personal best! For more information contact Donna 01582 798 910 or email [email protected]


SAVE THE DATE for our next Rett UK

4th October 2019The Runnymede-On-Thames Hotel,

Windsor

Perhaps you know a business that would like to take a table or sponsor an element of the evening, like the band, the food or some wine on

the tables? In return, we can offer publicity in the programme and on

our social media sites.Please consider sponsorships and

donations at the most generous level that’s possible for you, to help us change

the lives of children and adults who struggle with the devastating symptoms

of Rett syndrome.Simply get in touch if you would like to discuss sponsorship opportunities

or introduce someone to who might be interested; we can take it from there!

Email [email protected] Call 01582 798 910

Facebook DonationsThank you and Happy Birthday to all of our supporters who have had a Facebook birthday fundraiser.We have already received over £3,000 in donations, raised by our very generous supporters. Thank you all:

Elissia Evans Mestre Estelle Nabal Julieanne Lynch Michelle Dally Nicole Channer Leah Von Dibbley Ashleigh Shannaghan Abi Stocker Isabella Kibble Keleigh Wade Debbie Coster Alina Cristea Peter Davis Rachel Davies Abigail Jones Abigail Jones Gemma Turner Anneka Haffield

Donations received in loving memory of: Carolyn Chadwick Ruby Forth Mary Lloyd Emily Moore Ian Drinkwater

Charity Ball


If you are inspired by our fabulous Rett Champions and want to help, please have a look at our events on the opposite page. You might also refer to our

events page, which we are continuously updating, on our website www.rettuk.org/fundraising/get-involved/events

We have free or discounted places in some of these events. If you don’t see anything that appeals to you but perhaps have an idea in mind, please speak to us.

We shall provide support with your fundraising ideas, give you extensive social media promotion as well as a t-shirt or running vest, flyers, etc. to help promote

your campaign. Please call Donna on 01582 798 910 to discuss your ideas.

We love to hear about our supporters and any events you are planning. Please let us know about your event so that we can support you every

step of the way.

MIGHT YOU BE A RETT UK CHAMPION?


If you are feeling motivated to support Rett UK, please contact the office for more information, email [email protected] or telephone 01582 798 910. To stay up to date with fundraising events and activities, please visit our website www.rettuk.org/events

MarathonManchester Marathon 7th April Manchester

Paris Marathon 14th April Paris

Milton Keynes Marathon 6th May Milton Keynes

Edinburgh Marathon 26th May Edinburgh

Half MarathonSheffield Half Marathon 14th April Sheffield

Milton Keynes Half Marathon 6th May Milton Keynes

Leeds Half Marathon 12th May Leeds

Chester Half Marathon 19th May Chester

Edinburgh Half Marathon 26th May Edinburgh

Hull Half Marathon 2nd June Hull

10KLincoln 10K 7th April Lincoln

GEAR 10K 5th May East Anglia

Edinburgh 10K 25th May Edinburgh

10K continuedHull 10K 2nd June Hull

Glasgow Men’s 10K 16th June Glasgow

5KEdinburgh 5K 25th May Edinburgh

Fun Run/Obstacle RaceKilomathon 7th April Edinburgh

Spartan Super 4th May Kent

Spartan Sprint 5th May Kent

Rough Runner – Oxfordshire 18-19th May Oxford

Spartan Sprint 25th May Ireland

Spartan Super 26th May Ireland

Rough Runner – Manchester 15-16th June Manchester

Wales Triathlon – Middle 8th June South Wales

Wales Triathlon – Olympic 8th June South Wales


Other Events You Can Get Involved In...

THE VITALITY BIG HALF Sunday 10th March 2019This half-marathon, which starts close to the Tower of London and finishes at the Cutty Sark, was created to celebrate London’s diversity and inspire more people to get active and take up running. This year it will once again feature:• The Little Half, a family-friendly run for all ages and abilities; and• The Big Relay which sees teams of four from the host boroughs of Tower Hamlets, Southwark, Lewisham and Greenwich, run The Vitality Big Half in four legs.

BRIGHTON MARATHONSunday 14th April 2019 The Brighton Marathon is one of the UK’s favourite 26.2 milers. Only an hour away from London by train and with a stunning backdrop of the sea in one of the country’s most vibrant cities, the race gets bigger and better every year.

VITALITY LONDON 10,000

Monday 27th May 2019 This world-leading event starts in The Mall, St James’s Park, London and finishes outside the gates of Buckingham Palace. This iconic race route, combines the Vitality Wellness Festival and a fantastic line up of elite runners including Mo Farah! You may not be running next to him but you can soak up the atmosphere at least!


To secure your place or to have a chat about any of our events, please contact Donna on 01582 798 910 or email [email protected]

ROYAL PARKS HALF MARATHONSunday 13th October 2019 This stunning central London Half Marathon, takes in some of the capital’s world-famous landmarks on closed roads, and four of London’s eight Royal Parks - Hyde Park, The Green Park, St James’s Park and Kensington Gardens.

Take part in a challenge of a life time! We have 10 places up for grabs.Join hundreds of fellow thrill-seekers as they soar from the sky for the UK’s largest summer skydive at Salisbury, Brigg, Lancaster, Swansea or Auctherader airfi elds! Now is your chance to fl y through the clouds at 120 mph and become a hero for Rett UK! For more details, contact Donna on 01582 798 910 or email [email protected]

RETT UK SUMMER SOLSTICE SKYDIVE CHALLENGE Sunday 23rd June 2019 Arrive at 11am for a 12pm start

Are you up for a

challenge?


The 200 Club was established by Yvonne Oliver in 1996 to hold monthly prize draws and at the same time raise funds for Rett UK. In 2008, it became a 300 Club. Since 1996, prize monies of more than £20,000 have been won and we have raised over £32,000 for the charity.There are 11 monthly prizes of £30, £20 and £10 and if we have a full membership of 300, at the AGM, top prizes will be drawn for the month of October, of at least £325, £225 and £125. Top prizes will vary, depending on membership numbers.Membership is open to members of Rett UK, their relatives, friends and supporters. Each share costs £12.00 for the year and you may buy a maximum of 10 shares. A number will be allocated for each share that you buy and all numbers are entered into the monthly prize draws. Approximately 50% of the income each year will be paid out in prizes and the balance will go into Rett UK funds.The prize draws are made quarterly at meetings of the Executive Committee of Rett UK and winning numbers and names will be published in Rett News; you will receive a letter and cheque if your number wins a prize. Please support us by buying one share (or more!).

300 Club Results

Well done to all those whose numbers were pulled

out of the velvet bag!

The winners are:JULY 2018

1ST PRIZE £30 No: 173 Hilary Truss2ND PRIZE £20 No: 53 Linda Partridge 3RD PRIZE £10 No: 171 Sarah Louise Goudie

AUGUST 20181ST PRIZE £30 No: 6 Robert Valentine2ND PRIZE £20 No: 90 Bethan Foden3RD PRIZE £10 No: 208 Sue Fawn

SEPTEMBER 20181ST PRIZE £30 No: 20 Judy Miles2ND PRIZE £20 No: 153 Yvonne Oliver 3RD PRIZE £10 No: 36 Valerie Jackson

JOIN NOW!If you would like to join our

300 Club and receive the full benefi t of our monthly draws, please contact our 300 Club organiser, Yvonne Oliver, at [email protected]

She will send you all the necessary details and a

registration form.

RETT UK

JOIN NOW!Think of this as a

lucky chance for you and an opportunity

to raise funds for Rett UK

KEEP UP-TO-DATE WITH THE LATEST RESEARCH NEWS

FROM AROUND THE WORLD Subscribe free to our

monthly E-Newsletter via our website and direct to your inbox

when it is published.

Full of information on support, fundraising and events that might be of interest, we hope that the

E-Newsletter will be a good way for you to remain up-to-date.

Information will have hypertext links through which you can fi nd out more

or read the full content.

As with all our services, we welcome feedback and any ideas you have for

future issues.

Sign up for our monthly E-Newsletter

at www.rettuk.org

Collection TinsWe have updated our collection tins with our new address details. If you have a collection tin, please contact us so that we can provide you with a

new collection tin label. Please contact

[email protected] or telephone 01582 798 910.

DON’T FORGET!Please remember to fi ll in and return your data protection form asap!

Rett NewsSupport today, hope for tomorrow

www.rettuk.org

issue: two/2018

IN THIS ISSUE

Super Siblings

Parallel is coming to Glasgow (inclusive fun event!)

Personal Health Budgets

Introducing Gill Townend

BECOME A MEMBER OF RETT UK

FAMILY COMPANIONHave You Received it?If you have not received a copy of this useful resource, which is packed with information, it might be that you have not yet subscribed to be a member of Rett UK. Membership is free and it’s really simple to join. Please complete our membership form via our website or contact us on 01582 798 910.

Specialist Post Mortem Examinations

Research into Rett syndrome can greatly benefi t from a specialist post-mortem from

brain donation.

Information packs are available from our offi ce.

If you wish to give consent for donation, please contact Dr Claire Troakes or Sashika Selvackadunco on 020 7848 0290. If it is out of usual working hours, please leave a message and a member of the team will

contact you as soon as possible.

Post-mortem examinations can take place up to 72 hours after the person’s death.



When your work is done, our’s can still continue...

if you create a legacyWe exist to offer support, information and practical advice needed to help

families deal with the challenges that Rett syndrome presents. We’re here not just for the person with Rett syndrome but for the family as a whole.

A diagnosis of Rett syndrome impacts everyone and we are here when we are needed, both now and in the future.

Bequeathing Rett UK as little as 1% of your assets in a will can be straightforward. Please act now!

By doing this, you are ensuring that help and support from Rett UK is always available for the person for whom you care and have love.

For more information, please contact [email protected]


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The Direct Debit Guarantee THIS GUARANTEE SHOULD BE DETACHED AND RETAINED BY THE PAYEE• This Guarantee is off ered by all banks and building societies that accept instructions to pay Direct Debits• If there are any changes to the amount, date or frequency of your Direct Debit FCC Re Rett UK Ltd will notify you 10 working days in advance of your account being debited or as otherwise agreed. If you request FCC Re Rett UK Ltd to collect a payment, confi rmation of the amount and date will be given to you at the time of the request.• If an error is made in the payment of your Direct Debit, by FCC Re Rett UK Ltd or your bank or building society you are entitled to a full and immediate refund of the amount paid from your bank or building society. If you receive a refund you are not entitled to, you must pay it back when FCC Re Rett UK Ltd asks you to.• You can cancel a Direct Debit at any time by simply contacting your bank or building society. Written confi rmation may be required. Please also notify us.

RETT UK LTD, VICTORY HOUSE, CHOBHAM STREET, LUTON, BEDFORDSHIRE LU1 3BS GENERAL ENQUIRIES: 01582 798 910 / [email protected] • www.rettuk.org

Registered as a charity in England and Wales No. 1137820 and in Scotland No. SC047369 Registered Company in England and Wales Company No. 07339522 • © Rett UK 2018

#YouMadeItHappenThank you to all our wonderful donors and fundraisers for your generous

support during 2018. Whether you ran a marathon, baked cakes, or make a regular or one-off donation we appreciate every single penny donated. Your support impacts our work hugely, here is some feedback about the

difference your support makes #YouMadeItHappen

Transition Support❝ It was extremely helpful having a Rett UK advocate at our transition meetings, as otherwise we would be overwhelmed with professionals who don’t know our

child making decisions about her future. Those decisions are often based on financial resources. Patricia from Rett UK came to our meeting and she was

understanding, knowledgeable and fighting our daughter’s corner. We felt less anxious having her at the meeting. She has also provided us with lots of important information about Colleges and put us in touch with other parents. It’s extremely

necessary for families to have this help. ❞Telephone Helpline Support Service

❝ Faced with having to appeal an erroneous CHC decision and having our daughters funding withdrawn, the support, advice and practical help from the Rett

UK team was invaluable. ❞❝ Advice from Rett UK was critical to securing health funding for our daughter when she turned 18. This was both emotional support to me

and practical support with letter writing/information sharing. ❞Regional Events

❝ Just wanted to pass on my thanks for such an informative, valuable day on Saturday! We walked away with a wealth of information … you do a fantastic service for families like us...

thank you so much from the bottom of our hearts. ❞Health & Well Being

87% of respondents agreed that the support, information and advice they received from Rett UK had improved the health and well-being of the person with Rett syndrome that they

cared for.

Thank you all for fantastic year of raising awareness and funds to support our vital work

#YouMadeItHappen

rett news...help support us to help support you rett news · issue four/2018 · page 3 hello and...

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