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Rett SyndromeAwareness

Month

Rett NewsSupport today, hope for tomorrow

www.rettuk.orgissue: four/2016reg. charity no: 1 137820company reg: 07339522

IN THIS ISSUE October Awareness Month, Family Fun Day

Research Round Up

Vienna 50.1 Conference

Rett Disorders Alliance Update

Rett Syndrome

RETT NEWS · ISSUE FOUR/2016 · IFC HELP SUPPORT US TO HELP SUPPORT YOU

Rett News Contents

Rett UK, Langham House West, Mill Street, Luton LU1 2NATel: 01582 798910 · Direct Support Line: 01582 798911Email: [email protected] · Website: www.rettuk.org

HONORARY POSTS - Patrons: Ann Clwyd MP, Dame Evelyn Glennie, Gloria Hunniford, Jon SnowPRESIDENT - Yvonne Milne MBE · VICE-PRESIDENT - Lorna Jaff aTRUSTEES - Honorary Chairman: Hilary Truss · Honorary Vice-Chairman: Honorary Treasurer: Lucy Duncan · Tim Addison, Clive Beadle, Michael Britten, Philip Gander, Debbie Keyes, Celia Madden, Peter Oliver, Julie Owen, David Rogerson, Robert ValentineRETT UK STAFF - CEO: Becky Jenner · Family Support Manager: Julie BensonFamily Support Offi cer: Patrice Hosier · Offi ce Manager: Donna Tinch · Bookkeeper: Becca Prince.

Rett News is published quarterly by Rett UKEditors: Robert McKay · Designers: 1st Impression Creative Ltd · Printer: Creamers Ltd

The views expressed herein do not necessarily represent the views of the editor or of Rett UK’s offi cers, 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 is a rare neurological disorder aff ecting mainly females and very few males. 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undetected until major regression occurs at around one year of age, when children may lose acquired skills and become withdrawn.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 1Support Round Up – Liverpool Regional Roadshow 2Transition Update 4Changes to DLA & PIP 5Motability Vehicles & Motability Grants 7RTT 50.1 Conference, Vienna 8Rett Syndrome Awareness Month 10Fundraising Round Up Rat Race 14 Manchester Half Marathon 15 Parallel London 16 Coff ee Morning 17 Coll Half Marathon 18 Hell Up North 18 Thank You 19

Might you be a Regional Ambassador for Rett UK? 22Fundraising Virgin London Marathon 2017 23 Good Luck 24 Might You be a Rett Champion? 24 2017 Events 25Severity of Symptoms Survey 26Research Study 28Pitt-Hopkins Syndrome 29Research 32300 Club Results 35Leave a Gift Through Making a Will 36Memories – Louise Caulfi eld 37Christmas Cards and Gifts 40Make a Donation Form BC

HELP SUPPORT US TO HELP SUPPORT YOU RETT NEWS · ISSUE FOUR/2016 · PAGE 1

Welcome from the CEO

Hello and welcome to the fourth issue this year of Rett News. I can hardly believe how quickly the year has fl own and that I have been in post over two years now. The pace has not slackened and

we continue to push ahead with developing the regional events, of which the most recent and probably busiest this year was in October, in Liverpool, where we also held our Annual General Meeting. Read more about that from Julie on page 2. Also in October, we launched Rett Awareness month with our fi rst Inclusive Family Fun Day at Stockwood Park in Luton. This was impressively well-attended by families in the area and we are delighted that we have at least one new support group in the making. We also continued throughout October with awareness-raising with #Bake4Rett and #Cycle4Rett, which both received press exposure and generated much-needed funds for Rett UK. There is a full report on the activities on pages 10-13 and 17.I am conscious that we publish a great deal about fundraising in Rett News and it features heavily too in our social media feeds. We cannot avoid the fact that we have to keep driving the fundraising to continue to deliver the services and to be able to improve the existing off er, as well to develop new projects where support is missing. It is exceptionally important that people who help us in so many impressive and challenging ways are properly acknowledged. Rett News is a great vehicle for thanking such people but we hope that we are also bringing you interesting and helpful information about support, research and relevant events. We always welcome feedback, which is most important, so please contact us if you have suggestions for other items about which you would like to read in Rett News. On the topic of fundraising though, we are delighted now to be able to recruit a part-time community fundraiser to help with this work. The post is about to be advertised so in the Spring issue we look forward to introducing you to a new team member. We are making progress on developing the communication and education project, enlisting the help of Callie Ward and Abigail Davison-Hoult to publish up-to-date and targeted information on our website. Additionally, they are helping with certain funding bids for the project and at the Liverpool event they delivered their fi rst presentation on communication to professionals and families. We are extremely excited about seeing this work develop and hope you will be too.I hope you enjoy this issue of Rett News. Please let us know, as your feedback is extremely important. Thank you. Seasons Greetings to you and your families from everyone at Rett UK! Best wishes,

Becky Jenner

RETT NEWS · ISSUE FOUR/2016 · PAGE 2 HELP SUPPORT US TO HELP SUPPORT YOU

Support Round UpBy Julie Benson

Regional Day in LiverpoolLiverpool was the final stop for our 2016 Family Regional Roadshows, where everyone enjoyed a superb turnout amid mild but sunny weather. It was satisfying to see so many familiar faces and to greet new families at this event.We could not provide these family roadshows without the continuous support from our dedicated medical and therapeutic professionals, to whom we are ever-grateful for

their commitment to Rett UK, to families with children and to adults with Rett syndrome.It was a busy but enjoyable day for families, with several excellent presentations on such topics as breathing and sleep irregularities, scoliosis, communication and education, together with entertaining activities for children and adults with Rett syndrome and their siblings.A popular, if occasionally startling highlight was the visit by the petting zoo. Not only providing us with many cute and cuddly creatures such as meerkats, a fennec fox and a relatively fragrant skunk, we were also treated to slippery snakes, terrifying tarantulas and a large lizard called Boris. Our thanks go to The Party Animals. www.thepartyanimals.org

Now onto 2017!Dates have been agreed and regions identified and we would like to secure your help to make these events even better and more tailored to meet your needs.As part of the development of the regional events, regional hubs and new support groups, we would like to ensure that as many practitioners working with children and adults with Rett syndrome are aware of the opportunities to increase their understanding of this condition, free of charge.Please will you share information about these events with practitioners from education, health and social care so they know about them in advance. If you would like us to contact them directly in order to share with them the benefits of these events, please contact us at the office and we will call them.

Sarah Britten with a petting zoo snake


You might also help in identifying venues for such events, that are accessible in terms of travelling and parking and with suitable other facilities. Normally we use special schools and these have been proven to be successful. To provide the best experience for parents on the day, we provide care rooms for children and adults with Rett syndrome and their siblings. However, we cannot do this if we do not have the support of local dedicated volunteers.If you know of a special school in any of the areas below, which may consider hosting an event, or any teaching or classroom assistants, carers, support workers or indeed anyone who would be interested in helping on the day, please contact us by calling the office on 01582 798 911 or email [email protected].

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.

Save the DatesRett UK Regional Family Roadshows 2017

NORTHERN IRELANDFriday 31st March – Professional Awareness Workshops

Saturday 1st April – Family and Professional Event

NEWCASTLE AREAFriday 7th July – Professional Awareness Workshops

Saturday 8th July – Family and Professional Event

KENTFriday 13th October – Professional Awareness Workshops

Saturday 14th October – Family and Professional Event

Professional Rett Syndrome Awareness EventsPlease share this information with professionals and therapists who support

you and your daughter/son. This is a great opportunity for them to gain a better understanding of Rett syndrome and how it impacts on families


Transition Update

We now have over 40 families enrolled as active participants of the Transition Project. This provides information, guidance and support to young people and families during the often difficult and stressful period during the handover of care from children’s to adult health and social care services. Depending on the local authority or health provider, this can happen at any time between the ages of 16 and 25.This is also a time when many families contemplate the adult living options available to them. At this point, consideration is often given as to whether their young adult will stay at home with them or move into supported living or residential care. For many, this is a significant decision to make, with several services providing differing levels and quality of care provision. From everyone’s perspective, it’s a critical step to take and one that needs careful planning and consideration, with regard to what types of support the young person would like and which of them best meet their needs and future life aspirations.Home From Home Care

We were pleased to have a care provider attending our Liverpool Regional Day, who offered a particular perspective on moving into care beyond the family home. Paul and Ann de Savary were so disillusioned by the prospects for their daughter beyond their care, that they decided to set up their own care homes, Home from Home Care.

www.homefromhomecare.comThey are happy to share their experiences in order to help you in making decisions about adult living options during the transition process.A smooth transition is the key to a successful placement • Ensure the key people who know your young person well are involved• Ensure your young person is at the centre of all decisions made, they are attending the meetings and can actively participate• Be prepared to gather evidence to support your case for funding and for the right placement for your young personConsider the options in relation to the young person• Living at home, possibly with help from external carers• Supported living• Residential careIf you make the decision to opt for a placement beyond the family home, it is worth consulting your local authority website and study their local offer; this will list all the services available.


Changes to DLA & PIP

Changes to Disability Living Allowance and Personal Independence Payment for children during hospital admissionsFollowing a recent court case, there has been a change in the rules regarding the payments of DLA/PIP during a hospital admission.Prior to July 2015, if your child or young adult (under 18) was in hospital for more than 84 days, your benefi t payments ceased. This included both care and mobility components. It meant that not only were there fi nancial implications for the family but also was the potential loss of any mobility vehicle at a time when families were struggling with a sick child. In July 2015, the Supreme Court ruled that the DLA hospital rules breached the human rights of a severely disabled child. Following this ruling, the government introduced an interim policy of not suspending DLA or PIP when a child was in hospital. This policy has now become law, with resulting changes in regulations regarding payments during hospitalisation and they became eff ective from June 2016 in England and Wales and from July 2016 in Scotland.

Ask to have a social worker appointed as they will need to undertake a full needs’ assessment prior to fi nding suitable services. Consult with your social worker about the aspirations which you have for the future.It is worth visiting several homes and supported living placements before making the fi nal decision. Having decided what is best, don’t be constrained by what your local authority says is available. If they cannot meet the young person’s needs locally, they are required to fund a placement outside of that authority, where the appropriate services can be provided.More information about the types of adult living options available are contained in the Rett UK Family Companion. If you do not have a copy, please contact the offi ce. We shall be happy to send you a copy, which is free-of-charge to UK families.

FAMILY COMPANION

ONLINE

Our Family Companion online resource is now available in the

member’s section of our website www.rettuk.org/account


What does this mean for you son or daughter now? If they are under 18 when they become an in-patient, payments of DLA or PIP will continue as normal while they are in hospital. It does not matter how long they are in hospital and you do not have to prove how much care you continue to provide while your child is there.What if my son or daughter is 18 or over?The rules remain the same if the young person or adult is over 18 when their period as a hospital in-patient begins.DLA or PIP payments will be suspended once they have spent 28 days in hospital.If the young person becomes 18 during a period of hospitalisation, they will continue to receive DLA or PIP as they were under 18 at the time of their admission.

Will a hospital admission aff ect other benefi ts?Child Benefi tThis Is paid for the fi rst 12 weeks of your child being in hospital. You will continue to receive child benefi t if you are regularly spending money on the child’s behalf on such items as pocket money, books and clothing.Child Tax CreditThis is not aff ected.Council Tax SupportCheck with your local council as rules may vary, depending on the Local Authority.Employment and Support AllowanceThis is paid for an indefi nite period if all other entitlement conditions are met. Income-related ESA may be aff ected.Carer’s AllowanceIf you receive Carer’s Allowance for a child under 18, this should not be aff ected so long as you continue to provide for them, while they are in hospital, at least 35 hours of care a week.

Further information regarding benefi ts’ advice can be obtained from your local Citizens’ Advice

Bureau and/or Disability Rights UK.

www.disabilityrightsuk.orgGeneral enquiries 020 7250 8181

(this line is open Mon-Fri, 10am-12.30pm and 1.30-4pm)This line is not an advice line.


Are you entitled to a mobility vehicle for your son or daughter?To be eligible to join the Motability Scheme, you need to receive one of the disability benefits and you must have at least 12 months’ award remaining.

• Higher Rate Mobility Component of Disability Living Allowance (HRMC DLA)

• Enhanced Rate Mobility Component of Personal Independence Payment (ERMC PIP)

Vehicles can be tailored to meet the individual’s needs, with specialist seating and access, up to a fully wheelchair-accessible vehicle with winch and ramp.

Did you know that you may also be able to receive financial help with the initial payment through the Mobility Grants Scheme?

The application process is simple, requiring a form to be completed and proof of benefit receipt.

Be careful though! Once you have been awarded a grant, Mobility Grants Scheme will inform you of the amount to which you are entitled. You may then spend only up to a further 50% of the total grant value on ‘extras’. Extras include accessories additional seats. You should be careful to remain within the financial rules of the scheme to ensure that there is no risk of withdrawal of the grant offer. For example, if you were awarded the sum of £1,195 by the Mobility Grants Scheme, you could then personally spend only an additional £597.50 on extras.

The grant will help only towards the purchase of a vehicle that the Mobility Grants Scheme deems appropriate to needs, so if you were looking to have a larger vehicle for equipment or for other members of the family, you may have to cover the cost yourself.

It will be helpful to involve your local occupational therapist, who should be able to recommend the best type of vehicle, they might also be able to advise on car seats for younger children.

If you do require a larger or alternative vehicle to the one which Mobility would otherwise offer you, your occupational therapist may be able to assist in drafting and submitting your request.

We are happy to help you with any questions or queries that you may have about acquiring a Mobility Vehicle.

You will also find relevant information on the Motability website www.motability.org.uk

or call 0300 456 4566 8am-7pm Monday-Friday and 9am-1pm Saturday.

Motability Vehicles & Motability Grants


RTT 50.1 Conference, ViennaBy Becky Jenner

On Thursday, September 15th, I travelled to Vienna to attend the Rett 50.1 Conference, marking 50 years since Andreas Rett’s first published paper on Rett syndrome.I was privileged to be there and to hear leading Rett clinicians, researchers and therapists talking about their latest work with such expertise and dedication that progresses our understanding, care and management of this complex, devastating disorder. The event opened in the beautiful Vienna City Hall, with Mozart being played by a classical quartet, followed by

drinks and a buffet. On the Friday morning, we looked back at the history of Rett syndrome with some wonderful early photos and shared memories of people who had the met and worked with Dr. Andreas Rett. This was followed by presentations about defining and diagnosing Rett, including a particularly interesting one from Crista Einspieler, looking at early markers of the problem. It included some ultrasound video footage of a baby in uterus, who was later diagnosed with Rett syndrome. This, along with some clever video techniques to map the pattern and frequency of a baby’s movements in the first few months, showed that there is a difference between a neuro-typical baby and baby with Rett syndrome from much earlier than had previously been seen, possibly even in the uterus. Other presentations on the Friday included information about databases, classification and severity scales, MECP2 affected males and some very complex but promising research updates. Huda Zoghbi presented the final session on the Friday, ‘Rett syndrome: a winding path from clinic to bench and back’. I am sure many readers recognise her as the scientist who, in 1999, identified the MECP2 gene responsible for Rett syndrome. Huda talked about how the levels of MECP2 need to be just right; both too much and too little are problematic. Getting this right is complex but approaches including gene therapy or genome editing will become more viable with advances in technology and safety. Huda received a standing ovation for her contribution to Rett syndrome.

Vienna City Hall


On Saturday September 17th, Angus Clarke opened the day’s proceedings by reviewing ten years of the Cardiff Rett Syndrome Clinic. Then Jenny Downs talked about gross motor skills; we heard that a third of people with RTT who walk in childhood retain that capability going into adulthood. Walter Kaufman talked about clinical trials and opportunities involving Ketamine, Gaba and Dextromethorphan with adaptive trials that allow you to change the outcome measures as you progress. In the afternoon, we heard from Gill Townend, who is leading the development of communication guidelines in Rett syndrome, of the latest learning relating to eye-gaze technology and from our own Yvonne Milne MBE, President of Rett UK, talking about the inspiring legacy of Dr. Rett. The conference closed with a farewell party for the families and updates from the parent associations at which I had the opportunity to talk about Rett UK’s focus for the future. It was also impressive to hear a moving speech from Barbara Rett, Dr. Rett’s daughter, about his deep concerns for the families aff ected by Rett syndrome. It was an inspirational, internationally well-attended conference that included the ‘who’s who’ of the Rett Syndrome global community. These are people who lose sleep trying to fi nd the answers to the challenges which our children and our families face every day. We are fortunate to have them and I, for one, am very grateful for all their eff orts. We shall be featuring more detailed reviews of some of the presentations in future editions of Rett News.

Top: Welcome sign; Top right: Celebration cake; Right: Presentation slide


Flyers, Fun and FundraisingOn October 1st, a rather wet and windy day, at Stockwood Park, Luton we launched Rett Awareness Month, with an inclusive family fun Day which was welcomed by the general public as well as our local families. With a ‘Bake-off ’ competition, stalls, opportunities to use eye-gaze, along with circus skills, infl atables and handmade wooden toys to entertain and engage visitors, there was something for everyone. We also had on site the one and only Mobiloo, which is a fully-accessible changing place; it was enthusiastically welcomed by our families.We were delighted that the Mayor of Luton, Tahir Khan, joined us to open our event and he stayed for a while to chat to our families. We also had the support of the Cubs from 1st Someries (Luton) Scout Group. They were very helpful in greeting families as they arrived and handing out information leafl ets.The winners of the Bake-off competition were Kathryn Lawson a.k.a. ‘Star Baker’, Ann Maria Gruzkos and Helen Driver, each of whom received a prize and certifi cate for their stunning bakes. Unfortunately, the wet weather meant that the outdoor facilities could only be used for a couple of hours in the afternoon but we still took nearly £1,000, which was matched by funding from Barclays Bank. Many thanks go to Phoebe Ward for securing this for us. A good time was had by all and we hope in the future to be able to hold similar events at various locations.

#Bake4RettWe are pleased that in consequence of the event we have gained at least one new support group, possibly two and a new volunteer. Furthermore, Charlotte Stark, an Independent Usborne Books Organiser, had a stand at the fun day and decided to do #Bake4Rett coff ee morning with her good friend Katie Doke and raised £301. They held it at Dunstable Fire Station, where they organised a raffl e and there were tours of the fi re station for their guests. As if that were not enough, they even managed to secure local press coverage before and after the event. Well done both! You can read more about Charlotte and Katie’s coff ee morning on page 17.

AWARENESS MONTHCELEBRATING RETT SYNDROME

October 2016



Thanks too to Cristina Visocchi, her family and friends who held a Hallowe’en themed #Bake4Rett during half term and raised £75. Cristina’s mum Teresa told us, “We were baking till 11pm the night before but managed to produce a fantastic array including honey biscuits and a 3-tier cake with peanut butter and chocolate icing – inspired by the Great British Bake Off but bearing no resemblance whatsoever to their cakes! It all tasted fantastic and was a true team eff ort from Cristina and her 12-year-old sister Eleanor. We also had help from their two lovely friends Lauren and another Eleanor.”friends Lauren and another Eleanor.”

STARBAKER

STARBAKER

STARBAKER


#Cycle4RettIn addition to #Bake4Rett, during October we had #Cycle4Rett, which has raised over £5,500, with a further £3,050 in corporate support to help with the expenses of the trip. We are most grateful to Simon Stern at The Better Half Pub, Hove, Marcus Morley of Sussex Building Company, Jay Astman of Hove Place Decorators, the team at Handelsbanken, Hove, James Graham of Albar Construction and Andy Golawski for their generous sponsorship of this event. Sincere thanks to the cyclists, Pete Davis, Renata Dabrowska and Tommy Kelly, who gave up their time to train for the event and complete it; there was ‘blood, sweat and tears’ but they saw it through.Here Pete Davis tells us about his motivation for the event and how tough was the challenge:“For a few years, I have seen how tirelessly Rett UK works supporting those that have Rett syndrome and their families. Rett UK is only able to exist by donations made and by constant fundraising.My partner, Becky Jenner, has a daughter called Rosie and Rosie has Rett syndrome. I have seen fi rst-hand how debilitating Rett syndrome is and the day-to-day diffi culties that it brings. I don’t have the skills to help but I wanted to do something to help. So, I came up with a cunning plan to rope in some friends (Tommy Kelly and Renata Dabrowska) and plan a cycle ride that would be tough enough to encourage the support and sponsors to meet a fundraising target of £5,500.The event cost was relatively expensive but I managed to drive some local businesses mad and cover the cost. Without their generous support, we would have never have started the ride, Day 1, being October 10th, commencing from a small village called Moyrazes in the French Midi-Pyrénées.The plan was to cycle approximately 550 miles over some very challenging mountains in one week and arrive back in Hove a week later.Monday the 10th began with a bright and sunny but bitterly cold. We had no support vehicle so we had to carry everything we needed in panniers that ended up weighing more than the bikes themselves.

From left: Renata Dabrowska, Pete Davis & Tommy Kelly; at the starting point; at the fi nish line!


The clue to this little girl’s future lies in her hands… would you spot it?After a year to 18 months of ‘near normal’ development,

children with Rett syndrome, almost exclusively females,

start to lose skills including the ability to walk, talk and

feed themselves. A tell tale sign, even before this

regression, are odd, stereotypical hand movements which

can include hand wringing, hand washing, tapping or

mouthing. Deceleration of postnatal head growth can also

be an early sign.

What are the clinical features for a

Rett syndrome diagnosis?Main Criteria for Typical Rett Syndrome1 Partial or complete loss of acquired purposeful

hand skills2 Partial or complete loss of acquired spoken language

3 Gait abnormalities: Impaired (dyspraxic) or absence

of ability4 Stereotypic hand movements such as hand wringing

squeezing, clapping/tapping, mouthing and washing/

rubbing automatisms

Rett Syndrome

The hill climbs were brutal, mile after mile, hour after hour and by the end of day one all three of us were shattered and the hard reality of 6 more days like that was daunting.As the days progressed, during some of which we were in the saddle for 14 hours, the ride started to take its toll physically and mentally. What kept us going at our lowest times of ‘I can’t go any further’, were the people for whom we were doing it and for those who generously sponsored us. It’s also the case that the daily words of encouragement on social media from dozens of people were inspiring and kept the three of us crunching the hills and the miles.The sense of relief on Day 7 when, just before 6.00pm we arrived at our last hotel in Dieppe before boarding the ferry to Newhaven early the next morning, was massive and so emotional that we all had tears in our eyes.At midday on Monday the 17th, after 522 miles, elevation climbs of over 30,000 feet (higher than Mount Everest) only one puncture and four falls off the bikes, feeling shattered, we crossed the fi nish line in Hove, met by our friends and families.The generosity of everyone has meant that we have exceeded our original target, so thank you all very much.”We secured publicity in The Argus, which is a Sussex-wide paper and also in The Giving Times.

#siblingloveWe were delighted to be able to also share with viewers Justin Kelly’s family video, #siblinglove, with music by Ennio Morricone. Many thanks go to Justin and his family for allowing us to share special family moments beautifully captured on camera and featured in this moving video. It reached nearly 18,000 people and had around 6,600 views; it also generated several direct donations. If you have not seen it yet, you can view it here: www.facebook.com/RettUK/videos.

Awareness FlyersFinally, many thanks to all our readers and others who distributed our new Rett syndrome awareness-raising fl yers; together we publicised our message and more people know about Rett syndrome than they did at the start of October. Greater awareness leads to better understanding of the importance of support for families, attracts more educated and informed health professionals involved in the services which they need to access and more interest in the research needed to deliver targeted drugs and treatments. #Strongertogether.


On September 3rd, 2016, Jim Spurgeon accepted a challenge to run 22 miles from Caernarfon Castle on the coast, up to the summit of Mount Snowden. Jim decided to do this for the National Rheumatoid Arthritis Society, after his wife, Nicky, was diagnosed with the condition in 2015 and for Rett UK, in support of his friend’s daughter Ellysha, who has Rett syndrome. Jim raised £403.00 plus £80.75 of Gift Aid for Rett UK and here he tells us about his experience:“The start was delayed by 30 minutes due to weather conditions and we were told that we wouldn't be going to the summit as there were 60 mph winds, with zero visibility (this decision was made by air/sea rescue helicopter service). The early part of the race was straightforward road/footpath running. After about six miles we went off-road trail running and the weather deteriorated, at which point we were at an altitude of about 2000 ft. Pushing on towards the summit, after about ten or eleven miles I developed cramp in my right calf. It was painful running uphill but strangely was fine on flat and downhill sections. Our target summit was a point at about 500 ft. below the true summit and was nothing spectacular, just a turnaround point; the weather was truly grim.After about 19 miles it was time to ditch the backpack and tackle the Vertical Kilometre. Whoever thought of this is truly sadistic! This was the toughest thing that I've ever done. Then, after that it was it was primarily running along a stream on the descent, all downhill to the fun stuff, with a quarry jump, abseil, two water crossings with inflatable obstacles, a water slide and finally a 25 metre swim across the river. Finally, over a 6 ft. wall, an A-frame to climb and that’s it, you’re finished!My time was 5 hrs. 36 mins. I thoroughly enjoyed it and feel proud to have done it for two great charities.”

Fundraising Round Up

RAT RACE

Jim Spurgeon


Rebecca Chadwick enrolled for the Manchester Half Marathon, in honour of her two nieces, both of whom have Rett syndrome. Here, Rebecca gives her account of her experience:“On October 16th, 2016, I ran the Manchester Half Marathon for Rett UK. Normally a non-runner (at the start of the year I couldn’t even run for more than a mile and a half), this was the most significant physical challenge that I’ve ever faced. I started training in January and had to fit in training sessions alongside a demanding full-time job, as well as being a mum to two daughters, Abbie, 5 and Emily, 4.

Many a time I saw the sun rise over the hills during the 6am runs or had to do a quick dash after bedtime to fit everything in. Due to pure coincidence, my family has been blessed with two Rett angels with my brother and sister both having beautiful girls who are affected by Rett syndrome. Rett UK has provided a wealth of support to my family and because of this I wanted to give something back to this worthwhile and fantastic charity. With the support of my wonderful family, I crossed the finish line at 2 hours 35 minutes and managed to raise a fabulous £754.60 plus £153.25 of Gift Aid for Rett UK. As well as raising money, I’ve also managed to increase awareness of the condition, of the hard work that Rett UK does and to stress how important and instrumental they are in supporting families living with Rett syndrome. It was a tremendous experience and while I’m not sure if I’d be so keen to run so far again, I would definitely be willing to take part in more fundraising activities in the future to support the charity so that Rett UK can continue its fantastic work. I’ve also had many people commenting on how I’ve inspired them to exercise more or to tackle something that they’ve always wanted to do, setting themselves a challenge. This has also been a great achievement and was a key driver in my wanting to succeed in completing the half marathon. If people can look at me and think, ‘if she can do it, I can too’, then I’ve reached my goal.” www.manchesterhalfmarathon.com

Fundraising Round Up

MANCHESTER HALF MARATHON

From left: Rebecca Chadwick, Karl Chadwick, Abbie Chadwick (front), Mara Chadwick, Clive Chadwick, Julie Jakeman, Vicky Jakeman, Emily Chadwick and Terry Dawson


Fundraising Round UpBy Becky Jenner

PARALLEL LONDONOn a cold and blustery September morning Rosie and I set off from Brighton, heading for the Olympic Park, London to take part in the first Parallel London event. This was a celebration of inclusivity with various races and distances in which people both with and without disabilities could take part. In addition, a wonderful festival experience was created with exhibitions, displays and activities that highlighted how almost anything is possible when you have the right mindset and the appropriate equipment. Rosie and I had decided to take part in the 10K event, which as a regular runner, was not normally a hugely onerous distance for me but pushing Rosie, even in her superlight buggy, was a completely different matter. Fortunately, we had the superb company of Katy Cox and her daughter Freya (with a matching buggy, albeit a size smaller). We stuck together until we reached the last hundred metres or so, when I felt as if I had legs of lead and Katy found the energy to make a dash for the finish line. Both Freya and Rosie delighted in having their names shouted out as they crossed the finish line. I can safely say I was just relieved to make it to the end. Other Rett UK supporters at the event were The Fairy Princess and her mummy in the 5K event, raising £420.00 + £51.25 of Gift Aid, with Lorna, Ronnie and Jessica Jaffa completing the sensory 1k event. Everyone received some fantastic blingy medals and excellent goodie bags!We were thrilled to see some of our other families at the event too, bumping into Toby, Miles, Isobel and Charlotte. Charlotte and Isobel also did the 5K event and we saw Mia Crosby and dad Andy. Angela and Lucy Duncan came over to say hello after they had completed a run nearby. Grateful thanks go to Jenny Brown and Robert McKay, who assisted in the Rett UK marquee; after selling some merchandise and from funds raised by our participants, the event proceeds were over £1,000. We shall be taking part again next year, so if you would like a place please contact us to reserve yours. It was a great day out and will be even bigger and better next year, I am sure!

Becky Jenner with daughter, Rosie Jessica, Ronnie & Lorna Jaffa


From left: Fireman Dom, Leonn, Katie & Charlotte, Kian & Louie

Charlotte’s and Katie’s

Coffee Morning“It dawned on me, at the Rett UK Family Fun Day in October, that for a long time I had not even heard about the charity,

despite having lived in Luton for 31 years.Once I explained to my good friend, Katie, about the cause and that I wanted to organise a coff ee morning to raise awareness and funds, we joined forces and did just that on October 29th,

at Dunstable Fire Station. We both thoroughly enjoyed organising the event and were humbled by our local friends and

businesses jumping at the chance to make cakes and donate raffl e prizes. We wouldn’t hesitate in the future to do another one!” Following the coff ee morning, Katie’s partner Dean had a cake

sale at work and raised £26 and Dom Gernon, Katie’s friend and fi reman at Dunstable Fire Station, who also helped immensely

with the coff ee morning, went on to raise £57.25 with his fi remen colleagues, shaking buckets in Dunstable Quadrant

between call-outs! Rett UK are very grateful for Charlotte and her friends support which including donations from their Just

Giving page raised a total of £484.25.


HELL UP NORTH Chris Higgins and colleagues Lee McMurray, Marc Henshaw, Ben Barlow, Tim Brown, Matt Maunder, Callum Angus, Josh Anderson and Phil Collier completed the Hellrunner North on October 15th, in honour of Phoebe Collier ‘because she is awesome!’. Here Phil gives his account: “Chris Higgins excellently organised a team of six crazy hopefuls to take on the ‘Hell Up North 2016’ half marathon. This entailed 13 miles of cross-country running over obstacles with uninspiring names such as the ‘Bog of Doom’ and ‘The Devil’s Lido’. Unfortunately, along the way we lost one team-mate to injury but we completed the very muddy course and crossed the line as a team. A huge thank you goes to Evro Recruitment, which paid for our shirts and the printing, despite them being muddied and unrecognisable three miles in. Awareness of Rett UK and £1,580.00 plus £215.00 Gift Aid were raised; our thanks go to Chris, friends and everyone who sponsored us.” www.hellrunner.co.uk/hellupnorth

COLL HALF MARATHON

Anne and Alan Burns entered the Coll Half Marathon in honour of their dear friend’s grand-daughter Ellie. Here Anne gives an account of why they decided to fundraise for Rett UK: “We completed the Coll Half Marathon, albeit slowly, due, for several reasons, to a distinct lack of training. However, our commitment to supporting our friends and thinking of Ellie were what encouraged us round and we ran the full 13+ miles. The people on Coll who come out to support the race were tremendous, great fun and they helped greatly to make it a memorable day for us.We had to camp on the night after the race, so entering and exiting the tent were tricky because of aching joints! We are happy just to do something positive to raise money and awareness of the condition, as many people who had sponsored us had never heard of RTT. Ellie is the grand-daughter of one of my oldest and closest friends and when she first had the diagnosis it had such an impact on the whole family. My husband and I wanted to do something as one feels so powerless to help.” Anne and Alan raised £972.43 plus £215.00 of Gift Aid. www.collhalfmarathon.org.uk Top right: Phoebe and new baby sister, Harriet;

Above from left: Chris, Marc, Lee, Tim, Phil & Callum


A really big thank you to all of our incredible fundraisersHarriet Emery, in August, completed a 10,000 ft. tandem skydive in honour of her teacher’s 18-year-old daughter. Harriet commented, “One of the teachers at my school has a daughter with Rett syndrome and was telling me all about it. It touched my heart so I looked into it more and found this charity. I chose to support Rett UK by doing a skydive in early August, raising as much money as I could through sponsorship. I am very grateful to all my supporters and hope that the money can be used to help those aff ected by Rett syndrome, including friends and families. I’m so glad to have had this opportunity and raise £590.00 plus £101.25 Gift Aid for Rett UK.”Daniel Gribben completed a bungee jump in honour of his sister Lily and raised £200.Katie Avery completed the Vodafone Big Bold Challenge comprising 10k and 1000 stairs at the Madjeski Stadium, Reading, in honour of her niece, and raised £240.00 plus £57.50 Gift Aid.Dave Moore completed the Great Newham London 10K in July and the Fry and Kent Southsea Pirates Pieces of Eight Run on October 2nd in honour of his niece, raising £267.00 plus £20.50 Gift Aid.www.greatrun.org/great-newham-london-runwww.fi tprorob.biz/southsea-pirates-pieces-of-eightZoe Clarkson completed the Great South Run on October 23rd, in honour of her big sister and raised £270.00 plus £51.25 Gift Aid.www.greatrun.org/great-south-runStephanie Madden completed the Great East Anglia 10K Run and held a choir event, raising £351.20 in honour of her niece, Charlotte Truss.www.grandeastangliarun.co.uk

Fundraising Round Up by Donna Tinch

THANK YOU

Harriet Emery

Daniel Gribben takes the plunge


Alice Fender’s cake sale

Stella’s home-made crafts

Blanka Dzamkova

Stella Robertson

Stella Robertson – We are very grateful to Stella Robertson and friends for hosting not one but two fantastic garden parties in August raising £1,070 for Rett UK! Stella is mum to Maddie, who is 23 and they live on a farm in Sussex providing beautiful surroundings for the two events. Stella had been baking furiously in the days leading up to the events; scones, sponges, home-made preserves were in abundance but she also had a wonderful array of home-made craft items for sale, many of which Maddie had been able to help make. Stella’s brother, Paul also kindly helped by setting up his stall of beautifully crafted walking sticks. They were also crafting activities for children, guess the sweets in the jar and name the teddy. Children were also entertained by music therapist, Shirley. who kindly gave up her time. Stella said, "Everybody was very generous; everyone really enjoyed it and I am delighted by the final total we raised."Following the Gateshead 10K Run Richard Elcoat and his friend Rob went on to challenge themselves to complete 10K a day, raising a further £122.50 in honour of Emma. www.greatrun.org/great-north-10kClaire and Amelia Ralfe completed the Bubble Rush Brighton Race on July 9th, in honour of Amelia's cousin and raised £15.00 plus £1.25 Gift Aid.Adam De’Ath and his work colleagues at Telford Homes raised £109, having a ‘dress down day’ on October 21st, in honour of Adam’s daughter, Florie.Keep Fit Ladies at Christchurch Sailing Club successfully raised £30 in honour of Pat’s grand-daughter, Rachel.Alice Fender and her colleagues at BPHA Limited held a ‘dress down day’ and cake sale, raising £283.58 in honour of Phoebe.Congratulations to Anthony and Janet Best on celebrating their golden wedding anniversary in July. We are very grateful to receive donations in lieu of gifts, to mark the occasion in honour of their daughter, Naomi.A donation of £100 was received, to mark Janice Cheyney’s 52nd birthday in July, from her godfather Michael.


Holly Snooks Harrold, with Lucy Burton, Richard McCarthy and Jack Burton completed the X-Runner Wild Warrior event, (which included 72 obstacles and a 10K run!) on October 1st, in honour of Holly’s niece Lilia and raised £510.00 plus £73.75 Gift Aid.Lynda Higgins knitted and sold ‘Rainbow Babies’ and raised £320, generating also a great deal of awareness, in honour in of her great-niece, Phoebe.The Stag & Hounds, Iver Heath raised £53 in honour of Cassie Twohigg.Newent Golf Club raised £55.Suzanne Gaskell had a stall at a local Disability Awareness Day, in loving memory of her son, Jacob and raised £94.Gayle and Paul and all the customers at Ladies’ Mile Pub in Patcham raised £500 from various fundraising activities. Brandlesholme Methodist Church raised £125.Peter and Yvonne Oliver for their donation to replace a laptop in the Rett UK offi ce. St. George’s Ladies’ Fellowship raised £180.Ann Crossley and Balsall Temple Women’s Institute held a garden coff ee morning which raised £250 in honour of Ann’s grand-daughter, Harriet. Holtwhites Bowls Club raised £91.12 from a spider competition and coff ee morning.Sharma’s of Illingworth had a collection tin which has raised £80 in honour of Eileen’s grand-daughter, Elisha.

Holly Snooks Harrold, Richard McCarthy, Lucy Burton & Jack Burton

Matthew Lucas, Linda Naylor, Lilia &Zoe Snooks

Naomi Best Simran’s birthday Simran Jaya Sheamar and her family sought donations in lieu of 5th birthday gifts, which raised £150 following her blessing at the Temple.St Andrew CE Prmary School, Preston for donations of £60 raised by Year 6 Production and Leavers Service in July.Year 6, Tadworth Primary School raised £294.42 in honour of Catherine Kelly.Spring Common Academy for choosing to support Rett UK in honour of Millie.Outwoods Primary School, Burton upon Trent raised £65.30.Donaghmore Primary School raised £586.

Well done to all of

our young superheroes!


THANK YOUDonations received in loving memory of: Louise Caulfi eldArthur George ClarkeGlenys Jones Mrs. Dorothy May FittonMr. Philip BurdinClare MatherMrs. ElizabethGillian RichardsKatie MacKenzie Rachel WolsoncroftJennifer Ann TudgeFred Tomlinson Elinor Mary ValerioteAnne BottomleyMrs. Betty Beedham, in honour of her grand-daughter, Emma

Might 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.

It’s not too late to order your Christmas

cards and gifts!We have added some new

cards to our selection so please do take a look.

There are also cycle shirts on sale as well as other items sure

to make the perfect gift. Please see pages 40 & 41.

And on behalf of all of us at Rett UK, we would like to wish you all a very Merry Christmas

and a Happy New Year!


Virgin London Marathon 2017

TEAM RETT UKChloe, Louise and Marcus each secured a Rett UK charity place in the 2017 Virgin London Marathon. Here they tell us why they are running for Rett UK:

Chloe Austin "The London Marathon will be my first marathon and I am thrilled to be able to run on behalf of Rett UK. Rett UK is a charity which is very close to my family's heart, as my eldest cousin, Clare Anders, has Rett syndrome. Having seen what impact her illness has had and how much support has been offered over the years, I am delighted to be able to raise money for this great cause and to enable the support to continue for present and future families. Although the prospect of getting outside and training in current weather conditions is far from appealing, I'm looking forward to the challenge, and being a part of such an amazing event for a very worthy cause."

If you would like to sponsor Jodie, please visit her Just Giving page www.justgiving.com/fundraising/ChloeAustinVLM17

Louise and Marcus Stewart “Marcus and I have discussed for many years that we would love to complete the London Marathon. We have been spectators and have supported friends who have run and the atmosphere has always been incredible. In the past, we have been put off by the time and training to which we would need to commit prior to the marathon. We know two families affected by Rett Syndrome and

this summer I had a great conversation with Donna from the Rett UK office. She is committed to and enthusiastic about the work of the charity and she explained what the charity does and how it helps families affected by Rett syndrome. This was all I needed to put our names forward; the commitment to time and training are nothing if we can help raise money for the charity. It’s going to be an interesting six months ahead. Thank you for your support.”If you would like to sponsor Louise and Marcus please visit their Just Giving page www.justgiving.com/fundraising/Marcus-Louise Thank YouChloe, Louise and Marcus, from everyone at Rett UK and from all our families, we wish you all the best with your training over the next few months. Thank you so much for supporting Rett UK.If you know someone who was lucky enough to secure their own place in next year’s marathon, perhaps you might ask them if they’d like to run for Rett UK. We can supply a t-shirt or running vest to help promote the charity. Please contact [email protected] or call 01582 798 910.

Chloe (right)


Might you be a Rett UK Champion?If you are inspired by these fabulous people and want to help, please have a look at our events on page 25. 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.

With events coming up over the next few weeks, good luck and thank you to our fundraising supporters:James Daly and Great Marlow School will have held a murder mystery dinner evening on December 2nd, in honour of Aimee.Karl Standing has enrolled for the London to Amsterdam 2017 Cycle Ride in honour of his daughter Lilia. www.justgiving.com/fundraising/Karl-Standing

Helen Smith wants to undertake 50 challenges (creative, musical, physical or embarrassing) before she is 50, in memory of her friend’s daughter Alison. In July, Helen completed a triathlon at Dorney Lake and has so far raised £1,455.00 www.uk.virginmoneygiving.com/fundraiserweb/fundraiser/showFundraiserProfilePage.action?userUrl=SeamsmithClare’s Concert is being held on the evening of December 8th, in the beautiful St. Gregory’s Church at Castlemorton. Ledbury Community Brass Band will hold its popular pre-Christmas annual concert. This year it is in aid of Rett UK, in honour of Clare Milne.

GOOD LUCK

Clare Milne


2017 EventsIf 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/fundraising/get-involved/events

5KEdinburgh 5K28th May Edinburgh

10KLincoln 10kApril 2nd Lincoln

Edinburgh 10K28th May Edinburgh

Obstacle RacesTough Guy – The OriginalJanuary 29th Wolverhampton

Spartan Race SprintApril 8th South East London

Obstacle Races/ Fun RunsGauntelet GamesJuly 29th Brighton

Gauntelet GamesSeptember 16th Manchester

MarathonsMilton Keynes MarathonMarch 5th Milton Keynes

Barcelona MarathonMarch 12th Barcelona

Manchester MarathonApril 2nd Manchester

Edinburgh Marathon29th May Edinburgh

Half MarathonsBarcelona HalfFebruary 5th Barcelona

Milton Keynes HalfMarch 5th Milton Keynes

Paris HalfMarch 5th Paris

North London HalfMarch 12th Wembley

Yeovil HalfMarch 26th Yeovil

Yorkshire HalfApril 9th Yorkshire

Run Hackney HalfMay 7th Hackney

Leeds HalfMay 14th Yorkshire

Edinburgh Half29th May Edinburgh

We love to hear about our supporters and the events you

are planning.

Please let us know about your event so that we can support you

every step of the way.


Severity of Symptoms Survey for People with Rett DisordersBy the Rett Disorder Alliance

Many thanks to everyone who completed the online survey which took place in early September 2016, about the severity of symptoms experienced by people with Rett syndrome and the impact of those symptoms, not just on them but also on their families and care givers. This was hugely helpful in helping us to focus the efforts of our professionals to develop ‘position statements’ based on their clinical experience and knowledge of particular symptoms. These position statements will give information about presentation, diagnosis and management for health professionals working in both primary (GPs) and secondary care (hospitals).

We had 156 completed responses, which was an excellent sample. The breakdown of diagnosis was as follows:

Classic Rett 59.61% 121 people

Atypical Rett 12.32% 25 people

CDKL5 11.33% 23 people

FoxG1 5.42% 11 people

MECP2 Duplication 11.33% 23 people

We know all too well that Rett syndrome presents with a wide range of symptoms and most individuals having multiple symptoms across several areas. We don’t think that there were any real surprises about which symptoms were causing the most difficulty.

We then asked which three issues have the worst impact on the quality of life of the child and which three issues have the worst impact on the quality of life of parents and the family?

Communication issues are reported as the most significant problem for patients and the second one for parents and families.

• 36% of people with Rett syndrome, according to this survey, never walked

• Night-waking was rated as a medium-to-severe problem by 52% of respondents

• Loss of hand skills was rated as a medium-to-severe problem by 87% of respondents

• 85% rated the loss of speech as the medium-to-severe difficulty

• 67% rated constipation as medium-to-severe difficulty

• 43% rated seizures as a medium-to-severe difficulty


We know that communication therapies and assistive communication technologies need to receive a much higher priority and more financial support. Here at Rett UK, this is one of our priority areas for development. Fortunately, communication guidelines, which it hopes to have finished by mid-to-late-2017, are being written by an international group of communication specialists led by Gill Townend.

After ‘communication issues’, the next most difficult symptoms were seizures/epilepsy, bowel/gut issues, sleep issues and breathing issues. All these areas can be treated to a greater or lesser extent but not all of them are receiving sufficient attention. We are particularly concerned that breathing issues are not perceived by parents or generalist health professionals as a major problem. We know that it is not widely understood how much the disrupted breathing is linked to other problems and what is the long-term effect of breathing dysregulation. Sadly, breathing-related issues account for over 50% of deaths of patients with RTT.

We believe that an early diagnosis, access to targeted interventions and therapies lead to better long-term outcomes for people with RTT and their families. This becomes even more important as drugs specifically for Rett syndrome become a reality, so that they gain the maximum benefit from them. More research and trialling of repurposed and new medicines must be done to improve clinical effectiveness and we need improved clinical approaches for many areas, particularly seizures, bowel and gut issues, sleeping and breathing.

However, we are delighted to report that following the second meeting of the Rett Disorders Working Group, early in November, the professionals involved have accepted our recommendations based on the survey results and their own experience, committing themselves to write the position statements with a clear timeline showing completion by June 2017.

We shall present updates as this work progresses but this is an excellent outcome from the collaborative work of the Rett Disorders Alliance. We are most grateful to all the professionals in so many disciplines who have committed themselves to help with this work. Watch this space!

Top: Rett Disorders Working Group; Top right: Gill Towsend, Ram Kumar & Shane Delamont; Right: Peter Julu & Jatinder Singh


Thank you for your interest in this research project. As part of my studies, I am carrying out a research study exploring parental experiences of living with a child with a life-limiting/threatening condition and the effect of this on different family members (e.g. siblings and grandparents).This is a project in which I have a particular interest, given that I have worked in the past, as a healthcare support worker, with life-limited/threatened children.If you decide to participate in this study, I will request that you take part in an interview that is likely to last about 30 minutes.

During this interview, I will ask you some questions about:• Your child and their diagnosis;• The impact of your child’s diagnosis on you and other members of your family;• How well supported you and your family members feel.You have been invited to take part in this study because we really value your insight into the process of having a child being diagnosed with a life-limiting or life-threatening condition.

Before you decide whether or not you would like to take part, there are some important matters that you should know:• You do not have to take part if you do not wish to do so and even if you decide to participate, you can always withdraw from the research at any point, without having to give a reason.• Any information which you provide will be in confidence. When the research findings are made available, we shall ensure that no identifying information is included in the report.A potential benefit of taking part is that awareness will be raised about the support needs of families affected by life-limited or life-threatened conditions, which may contribute to making improvements in the future. However, it is important to bear in mind that discussing such a sensitive topic may be upsetting. Therefore, it is essential that you are aware of where to go to seek help, support and advice. If you are unaware of where and how to access help and support, we can assist you in locating relevant services in your area (we are unable to provide this at Goldsmiths).For further information on the research project or to discuss any aspect of the project, please contact me via email at [email protected] (please note that 001 is a numerical value). Alternatively, you may contact my project supervisor, Dr. Laura Crane at [email protected].

Research Studyby Sarah Meeds, research student in the Department of Psychology at Goldsmiths, University of London


Has your son or daughter had a clinical diagnosis of Rett syndrome? Has he/she been tested for diff erent variants but nothing has been found? Has he/she not been seen by a geneticist for a few years, maybe since before 2007? Have you ever thought that the Rett syndrome diagnosis didn’t fi t?Over the years, my son was tested for many conditions, including, four times, Angelman Syndrome and male Rett syndrome (RTT). Weeks before his 16th birthday, in 2007, as part of a research project, he was diagnosed with Pitt-Hopkins Syndrome. It was only later that we discovered that he was part of the research project and had been tested for Angelman and Rett syndrome (RTT)! I started searching online for a support group. There was little online about Pitt-Hopkins Syndrome. The charity, Contact a Family had heard of Pitt-Hopkins Syndrome but at that time we had no information nor did we know of any support group. They suggested that we start one ourselves! I was advised to post on a site now known as Inspire and 5 months later when we were in contact with four families we started a Google support group in April 2008.We discovered that many of our children had been tested for Angelman (AS) and Rett syndrome (RTT). Formerly, some had had clinical diagnoses of Angelman or RTT. Here is what some parents reported:

For ten years, L had a diagnosis of Rett syndrome. ❝ L would hold her breath a lot! Her lips would turn purplish. She had staring spells, which resulted in CT scans, MRIs, and EEGs. The neurological assessments never showed seizure activities. She also had sleep apnea. L's hand functioning seemed to also be turning in and regressing, as was her ability to walk. Walking issues and sleep apnea were corrected through surgeries.❞

❝ My E was also tested for RTT. Midline hands, developmental delay and had rolled over when she was younger but then quit as she got older. The geneticist mentioned RTT and PTHS in our evaluation but by the end of it was only saying RTT. He wanted to wait six months to test for it to see whether she looked more like she had it as she got older. However, once we got home and looked it up we decided six months was too long to wait if that was even a possibility. Later I decided to look up PTHS since he had mentioned it originally and thought of E while reading. Then I Googled images and saw my E in these kids. I called the geneticist and asked why he ruled it out and told him what I thought (my husband agreed). He agreed to test for both RTT and Pitt-Hopkins. A few weeks later we got the call. E had Pitt-Hopkins Syndrome.❞

Pitt-Hopkins Syndromeby Sue Routledge


❝ I think that, as a parent, if your child has been diagnosed with RTT or AS, you stop searching even though it has not been genetically confi rmed. I did and it was only due to the research in which we took part about apneas and the geneticist in the research team (A N) who said that she did not believe that K had RTT, that gave us the correct diagnosis.❞M was tested for RTT and Angelman's at the same time. ❝ We never thought that M quite fi tted RTT because she was always delayed and never had a regression. But at the time (1yr), she did wring her hands. ❞There is a paper by Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, Williamson S, Cloosterman D, Yang N, Christodoulou J. 2012. “Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome”, Am J Med Genet Part A 158A:713–719, that compares the phenotypes of those with a diagnosis of RTT, Pitt-Hopkins Syndrome and Angelman. I've adapted the table (see opposite) showing Rett syndrome compared to Pitt-Hopkins Syndrome. The experience of our group is some children do have speech and not all have structural brain anomalies. Below are photographs of some of those who had a clinical diagnosis of RTT or who were tested for it, as the geneticist thought it was a likely diagnosis.


Phenotypic Overlap Shared Between Rett and Pitt-Hopkins Syndrome Adapted from Table 1 Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, Williamson S. Cloosterman D, Yang N, Christodoulou J. 2012. Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett Syndrome.

Am J Med Genet Part A 158A: 713-719

Pitt-Hopkins Syndrome Rett Syndrome

Absent speech Reduction or loss of speech and communication

Happy disposition Inexplicable episodes of laughing or screaming

Seizures Seizures

Postnatal microcephaly Postnatal deceleration of head growth

Intestinal problems Intestinal problems

Growth delay Growth delay

Intermittent hyperventilation and apnoea

Intermittent hyperventilation and apnoea

Muscular hypotonia and motor difficulties Changes in muscle tone

Learning difficulties Learning difficulties

Abnormal gait

Sleep disturbances

Scoliosis

Cup-shaped fleshy ears Absence or reduction of hand skills

Structural brain abnormalities Regression following by recovery of social interaction

Coarse face with a broad and beaked nasal bridge

Stereotypic hand movements such as wringing, and clapping

Wide mouth with a bow-shaped upper lip and everted lower lip Loss of purposeful hand movements

The sections in italics represent shared characteristics between RS and PTHS. Areas in bold represent unique phenotypes corresponding to each syndrome noted by the authors of the paper.Since 2007, there has been a test available for detecting Pitt-Hopkins Syndrome, which is a known differential diagnosis for Rett syndrome. If you would like to have more information about Pitt-Hopkins Syndrome go to pitthopkins.org.uk or download our free app. Just search for ‘Pitt Hopkins’ in your app store.


Here we aim to bring you the latest research news from around the world

Who? Assistant Professor Eyleen Goh of the Duke-NUS Medical School and Professor George Augustine of the Lee Kong Chian School of Medicine at Nanyang Technological University

What? Choline – a vitamin found in food such as broccoli, soya beans, seafood and chicken – role in Rett syndrome

When? July 2016, NeuroMolecular Medicine

Following a three-year study, the researchers reported that when choline was applied to a dish containing nerve cells, or neurons, with Rett syndrome, it helped override physical and functional defects caused by genetic cell mutations, leading to an almost complete recovery in those nerve cells.The research is at a very early stage but the researchers plan to run further studies using three-dimensional (3D) models, such as lab-grown organs, which are more similar to the structure of the human body.Professor Goh reported, "One possibility is that pregnant women could be given choline supplements, similar to the folic acid supplements given to pregnant women to reduce birth defects.”Neurons control our thoughts, words, actions and movements, firing electrical signals and transmitting information through the synapses

that connect them. Rett neurons are about 10%-20% smaller and their cell membranes have a different lipid (fat) composition, which affects synaptic transmissions.When Rett neurons were supplemented with choline, their shape and structure improved as did synaptic transmission defects linked to the condition. Source: www.straitstimes.com/singapore/vitamin-choline-offers-hope-in-search-for-rett-syndrome-cure

Research


Who? Dr. Lisa Monteggia, Professor of Neuroscience at the O’Donnell Jr. Brain Institute, UT Southwestern Medical Centre

What? Gene regulation in brain may explain repetitive behaviours in Rett syndrome patients

When? July 2016, Nature Neuroscience

The researchers the O'Donnell Jr. Brain Institute identified a process in the brains of mice that could explain the repetitive actions which we see in people with Rett syndrome and people with autistic spectrum disorders. Dr. Lisa Monteggia said, "We are exploring the processes that contribute to Rett syndrome in an effort to develop treatments that may prove useful in the disease." The study demonstrated that MeCP2 is among a group of three proteins that affect the function of a gene previously linked to obsessive compulsive disorder. Researchers were able to induce and then suppress repetitive behaviours in mice by changing the levels of these three proteins at the synapse, the communication junction between nerve cells.The research is a significant advancement in the understanding of how dysfunction in MeCP2 leads to key symptoms associated with Rett syndrome. Although MeCP2 was identified less than two decades ago as the cause of the post-natal neurological disorder, the link between the protein's dysfunction and the specific neurological symptoms characteristic of the disease remains elusive.Inducing Rett-like behavioursScientists have known that MeCP2 is essential for normal brain development and acts as a molecular switch that affects how other genes function. Patients with Rett syndrome and some cases of autism spectrum disorder do not produce MeCP2 or have too much of it, respectively, causing other genes to operate abnormally. However, scientists have not yet identified many of the precise mechanisms by which this dysfunction occurs.Dr. Monteggia's team found that MeCP2 controls the function of a gene called SAPAP3, which has been linked to obsessive compulsive disorder in humans. Disrupting the interaction between MeCP2 and the target gene SAPAP3 caused mice to groom themselves excessively; this repetitive behaviour stopped after researchers reintroduced SAPAP3 into a particular brain region that is involved in obsessive compulsive behaviours. The research group also identified that MeCP2 formed a complex with histone deacetylase proteins, HDAC1 and HDAC2, to regulate SAPAP3's function. "It is important to take these findings to the next level and seek ways to help patients enjoy their lives as normally as they can by addressing their symptoms," said Dr. Monteggia. Other findingsThe four-year study's original aim was to examine how the removal of certain proteins from the brain could improve memory disorders but the focus expanded after the study found that each of the mice lacking HDAC1 and HDAC2 began displaying Rett-like repetitive behaviours.In addition to the Rett-related finding, Dr. Monteggia's team found that the removal of both HDAC1 and HDAC2 from the brain can kill neurons. This outcome is notable because studies elsewhere, as well as previous work by Dr. Monteggia's group,


demonstrated the potential for treating memory loss by selectively inhibiting the HDAC2 protein.Dr. Monteggia is of the opinion that this finding does not mean that certain HDAC inhibitors can't be effective but the study does demonstrate that non-specific inhibitors and certain combinations may worsen the problem.Source: medicalxpress.com/news/2016-09-gene-brain-repetitive-behaviors-rett.htmlMore information: MeCP2 and histone deacetylases 1 and 2 in dorsal striatum collectively suppress repetitive behaviours, Nature Neuroscience, DOI: 10.1038/nn.4395

Who? Manel Esteller, Director of the Program for Epigenetics and Cancer Biology (PEBC) of Bellvitge Biomedical Research Institute (IDIBELL), ICREA researcher and Professor of Genetics of the University of Barcelona

What? Discovery of new mutations in genes associated with the development of atypical Rett syndrome

When? September 2016, Human Genetics

Manel Esteller wrote in an article published in Human Genetics: ‘We sequenced a total of 61 genomes corresponding to patients classified as atypical Rett syndrome and of their parents, who did not show any alteration in genes typically associated with this entity. This complex task of genomic analysis has allowed us to create a clearer picture of what is happening at the molecular level when atypical Rett syndrome is diagnosed. Sometimes, the mutation responsible for Rett syndrome is in one of the known genes but it is located in a region not reached by the usual genetic analysis. Other patients sometimes show symptoms that look like an atypical Rett syndrome but mutations actually occur in other genes responsible for similar neurodevelopmental syndromes such as Dravet syndrome, Pitt-Hopkins syndrome or monogenic diseases characterised by childhood epilepsy’.“Finally, we have discovered two very interesting subgroups”, explains the researcher, “girls who have mutations in new genes firstly associated with atypical Rett Syndrome, such as those found in synaptic neurotransmitter receptors and the existence of patients, despite the detailed analysis of its genome, in whom we found no obvious mutation, which makes the existence of alternative non-genetic disease mechanisms possible."This is interesting for people who have had a diagnosis of atypical Rett syndrome, showing many of the traits associated with classic Rett syndrome but who do not have mutations in the gene. Knowing which gene or genes are responsible for the disorder can make diagnosis, genetic counselling, monitoring and the possible benefits from future therapies more targeted. This study was made possible by support from the Catalan and Spanish Rett syndrome associations, a crowdfunding campaign in Verkami and the Finestrelles Foundation.Source: www.idibell.cat/modul/noticias/es/932/descubren-mutaciones-asociadas-a-formas-inusuales-del-sindrome-de-rettMore information: Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong J, Esteller M. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Human Genetics, D


300 Club ResultsWell done to everyone whose numbers were pulled out of the velvet bag this time

October 20161st Prize...£350...Richard Teubler 2nd Prize...£250...Steve Jackson

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December 20161st Prize...£30...David & Judith Cohen

2nd Prize...£20...Michael & Wendy Britten

3rd Prize...£10...Deborah Sykes

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None of us can predict what challenges our families may face in the future. In particular, we do not know what the future will hold for those with Rett syndrome, their parents, carers and siblings. At Rett UK, we are determined to make sure that whatever problems they face in the future, they don’t have to face them alone. You can help us achieve that aim today.

Leave a gift through making a will Have you thought of leaving money to Rett UK in your will?A will is a legal document that says who you want your money and possessions to go to when you die. An up-to-date will is the only way to be sure that your loved ones and causes about which you care, will inherit the gifts that you intend for them. Many people think that they do not have enough money to make a will worthwhile. However, it is surprising how the value of your home, possessions and savings add up. Types of gifts – three ways to make a big diff erence to Rett UK:‘Residual’ legacy – Give a percentage of your estate after all other gifts to friends and loved ones are satisfi ed. As little as 1% will make a signifi cant diff erence to supporting those with Rett syndrome.

General use or for a special purpose of your choice, by means of a: ‘Pecuniary’ legacy – Make a bequest of a gift of a fi xed sum of money; give a specifi c amount in £s. This can be designated for support staff to work with families.‘Specifi c’ legacy – Give an item such as a personal possession, an antique piece, jewellery, land, buildings or investments, such as shares. A legacy to Rett UK may reduce your liability to Inheritance Tax and will also help to ensure that future generations of families aff ected by Rett syndrome can benefi t from our work. A will is a legally-binding document; consult a practicing solicitor, a member of the Institute of Professional Willwriters or a member of the Society of Trust and Estate Practitioners. Find a solicitor by looking online or in your local telephone directory, by calling the Law Society on 020 7242 1222 or by searching the Law Society’s online directory www.solicitors.lawsociety.org.ukYou can contact at any time our CEO, Becky Jenner or chairperson Hilary Truss, to ask further questions about leaving a legacy for Rett families.

Securing the future for our families aff ected by Rett Syndrome


Memories – Louise CaulfieldBy her mother, Maureen Hughes

Louise was born on Saturday, 27th June 1970, at home, the younger daughter of Rosemary and Frank Caulfield. Her sister Kathryn was two-and-a-half years of age at the time and was extremely excited about the arrival of a new baby. It was very cold and it had been snowing, even though it was June; Louise arrived just in time for tea.Between the ages of seven to eighteen months she suffered a

slowing down of development, followed by loss of previously acquired skills, with marked changes in emotional development, especially withdrawal and anxiety. She emerged from this period with a variety of stereotyped behaviours, mostly involving the wringing of hands, together with breathing difficulties and hyperventilation. Eventually, in 1985, Louise was diagnosed as a sufferer of Rett syndrome. Despite all the traumas which she has experienced, one in particular being a deep depressive state following what was described as a minor operation, she led a reasonably high quality of life. She continued to hyperventilate, along with wringing hand movements but she was able to vocalise in order to attract attention. When not in her ‘snooty’ moods, she could be most charming and melt people’s hearts with her smile and laughing. She was always happiest with one-to-one attention.Over the years, Louise progressed from doing what family described as bunny hops, never crawling, to walking unaided with a rather stiff-straddled side-to-side gait; to complete the walk around the block of houses where she lived took over an hour. She thought it rather funny and giggled a lot when her feet were placed on top of her mum’s feet to go walking. One particularly happy and treasured memory is when, out for a picnic on the local cricket club’s ground, which was rather a large field, while setting the picnic out, Louise stood up from her pushchair. Once she had got her balance she was off walking all around the field, arms outstretched, laughing and making other vocal noises as she strutted about. It is a pity that no camera was available on that day to record such a beautiful sight. She loved being outdoors, even helping to push the lawnmower.Her capacity for speech was limited but she said “ba” for “baba” and “by-eye” for “bye-bye”. However, after three regression periods this was lost. Then some years later, another word “bah” for “bad” emerged, which she pronounced when listening

Louise age 40


to the music by Michael Jackson; quite the pop princess! For all that, she could make people understand what she wanted; if she was very angry, there was a really vicious flashing of eyes from side to side and if she didn’t want to eat she would clench her mouth shut and there was no way that food could pass her lips. When she was in the lounge she could hear a packet of crisps or a box of Maltesers being opened in the kitchen and would be eagerly waiting for them to be brought to her.In April 1978, aged 8, urgent arrangements had to be made to admit Louise into Inglefield Children’s Home in Castlefields, Runcorn, following her mum’s health breakdown. The effect of this unexpected sudden admittance had a devastating effect on the whole family. It was a difficult period also for staff members at Inglefield as they had not had any previous experience in dealing with someone with such complexities; it was a huge learning curve for everyone concerned. During that time Louise befriended a little girl named Rachael Grice. Wherever Louise was, there alongside was Rachel, who continually sang ‘Every little breeze seems to whisper Louise’ and a wonderful relationship grew between them. Another memorable time was when a stray dog had been found wandering around the home and eventually was adopted and named Lucky. He and Louise were inseparable; he was always by her side and when thought missing could always be found fast asleep under Louise’s bed. When Louise was taken out in her wheelchair, there would be Lucky following just a few yards’ behind.Around this time, Louise changed school from Northwich to Cavendish Farm School, Runcorn and it became another long period of settling down and renewed learning for everyone involved but Louise was really happy there, particularly in the warm therapy pool.At the age of 19, Louise was classified as an adult and had to move to adult care. The search to find a suitable placement proved very difficult but finally, aged 22, a place was found at Great Fouracres Residential Home in Widnes, Dundalk Road, Widnes. It was a rather disgusting,

Louise on her 18th birthday with her Grandma, sister Kathryn & her mum Rosemary

As a baby with sister, Kathryn

At 11 with her mum & step-dad


dilapidated building but plans for its demolition and replacement by a purpose-built home became a reality in 1999, when Louise, aged 29, moved into Bungalow 3, Ashley Green, a superb and most beautiful place in which Louise continued to live until her recent demise. Here, Louise’s lifestyle continued developing, with activities being accessed in the community. At Ashley Green, Louise was afforded a wonderful life, together with support staff, who were absolutely brilliant, giving an exceptionally high quality of care and becoming her extended family.Louise leaves behind, her mum, sister Kathryn and husband Anthony, step-sister Alison and partner Paul, nieces Isabella and Emilia and nephews Rory and James. Wherever Louise has been during her life she has touched people in very special ways and all who have known her have come to love her. She will leave a huge hole in so much of their lives but where she goes to there are many people who also loved her very much and are waiting to take care of her.

Thank you so much to Louise’s family and friends for donations, in place of flowers, to Rett UK in Louise’s memory.

So many thoughts of you are filled with fond affection

And lovely memories too

For you were a Very Precious Special, Daughter, Sister, Auntie and friend

Who has been such a joy to know

You’ve left a trail of sunshine everywhere you’ve been

You’ve been loved so very much each hour, each day, each year

God Bless, Louise, in our hearts and memories always

Gone but certainly never forgotten.

Thank YouThank you to everyone who has supported Rett UK over the pastyear. Like many charities we receive no government or NHS funding to carry out our services and rely entirely on donations

Front cover images – Clockwise from top left: Michelle & Sofia Taylor; Aurora Gelardi; Anil Bangher, Sally Damen, Clare Bangher & Gill Damen; Phil, Jenny & Phoebe Collier; Lorna, Ronnie & Jessica Jaffa; Jessica Marlow

Yes, Christmas is fast approaching! We have added 3 new card(s) to our range this year, including one with the winning photo from our seasonal photo competition – Justin Kelly's photo of daughter Catherine. Your support is very much appreciated as every purchase helps fund Rett UK.To place your order, just complete the order form overleaf and send it to us with your payment (cheques made payable to Rett UK) or you can place your order over the phone by calling 01582 798 910.

CHRISTMAS CARDSMerry Christmas and a Happy New Year

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(Enquire at [email protected])(Enquire at [email protected])(Enquire at [email protected])(Enquire at [email protected])(Enquire at [email protected])(Enquire at [email protected])(Enquire at [email protected])(Enquire at [email protected])

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Yes, Christmas is fast approaching! We have added 3 new card(s) to our range this Yes, Christmas is fast approaching! We have added 3 new card(s) to our range this

IT’S NOT TOO LATE!

GIFTS Price Each No. TotalPin Badge £2.00

Key Ring £2.00

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CARDS (10 per pack) Price/Pack No. TotalNEW - Catherine Kelly (A) £4.25

NEW - Wreaths (A) £4.25

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Present for the Snowman (B) £3.25

Robin on a Spade (B) £3.25

The Christmas Choir (B) £3.25

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POSTAGE & PACKING COSTS** Cards (A): 1 pack add £1.50; 2-4 packs add £3.00; 5-10 plus add £3.80 Cards (B): 1-2 packs add £1.50; 3-10 packs add £3.50Wristbands: Up to 3 add £1.50Pin Badges/Key Rings: up to 10 add £1.50; up to 20 add £2.50Cycle Shirts: please enquire. Additional quantities, price on request

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