Reverse Rett Matters (July 2022)

July 2022

CONTENTS Clear about a cure Current UK clinical trial Anavex 2-73 Clinical Trial Sites in the UK Nashville Help with CIPP Rett Centre referral A flying visit to Belfast 2022 research funding Winter Gala 2022

Reverse Rett Statham Link 1F Lancastrian Office Centre Talbot Road, Old Trafford Manchester M32 0FP

Speechless - Rachael Stevenson Big Give Christmas Challenge 2022 Golf Day for Reverse Rett Saharan Women’s Challenge

0161 413 0585

Warrington Wolves Academy climb Snowdon

info@reverserett.org.uk

Inspirational fundraiser - Gareth

www.reverserett.org.uk

Warne Family Forum / Bitesize

TRUSTEES Chair: John H Sharpe Vice-Chair: Helen Simmonds

Meet the team - Ewelina

STAFF TEAM CEO: Rachael Stevenson Clinical Trial Lead/Supporter Care: Andy Stevenson Finance: Rashida Hossain Events and Outreach Lead: Beth Johnsson Design/Marketing: Wesley Havill Patient Registry Co-ordinator: Ewelina Wasowska Fundraising special events: Hazel Beiny

The views expressed herein do not necessarily represent the views of the editor or of Reverse Rett Board of Trustees. Parts of this publication may be reproduced with permission, please email rachael@reverserett.org.uk

Reverse Rett Matters Designer: Wesley Havill Edited by: Rachael Stevenson 2

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Dear Friends, We share about the RSRT MECP2 Reactivation Collaboration we’re fundraising for in 2022, about the Speechless campaign which will bolster those efforts and the upcoming Saharan Women’s Challenge as well as our usual round ups of Bitesize, Family Forums and reminders for this year’s Big Give, Winter Gala and more.

Happy summer! We hope this newsletter finds you well and managing in the warm weather.

Halfway through 2022 we know that news of the impending gene therapy trial will be top of mind for many families and supporters. We have no news to share with you at this point, regarding the Taysha 102 trial for adults in Canada which received regulatory approval from Health Canada earlier this year. What we can tell you is that we have been assured that work is still on track for the trial to start this year so, deep breath, we all have to hold our nerve for a little while longer and see what happens.

A special shout out goes to Inspirational Fundraiser of the Quarter, Gareth (and Harriet) Warne for their immense (3rd) Pink Elephant Challenge in June. We appreciate them and everyone who has gone speechless for Rett and all those who have donated their birthdays with a special mention to Lotta’s lovely Grandad, Lloyd Beiny, who donated his very special 70th birthday for the love of Lotta, to Reverse Rett this month.

Ahead of that long-awaited occasion, the Board of Reverse Rett have been doing some preparatory work around our vision and the language we use around emerging therapies. On the next page, you can read an article I’ve written called, ‘Clear about a cure,’ to explain our thinking on this.

So much is going on in the development of treatments for Rett and we need this support more than ever. All of this and anything you can do, however small, adds to the pot and the momentum moving forward to our ultimate goal.

We’re also sharing information with you about the ongoing Anavex 2-73 trial in children and have added some info about the different UK trial sites and the doctors in charge at each site.

Until next time when we hope to have more good news to share,

Rachael x

Earlier this year, Co-founder and Clinical Trial Lead, Andy Stevenson and I, were able to attend the IRSF ASCEND Conference in Nashville and each of us shares out thoughts and experience of that in this newsletter.

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CLEAR ABOUT A CURE

BY RACHAEL STEVENSON

When Reverse Rett was founded back in 2010, it was not long after Rett Syndrome was shown to be reversible in mice.

In the coming months, as we prepare for gene therapy trials to begin, as an organisation, we plan to move away from using the word ‘cure.’

Those experiments were promising but at the time, the potential for a cure was really just hypothetical. Scientists knew if they put the Mecp2 protein back in mice born without Mecp2 protein, their symptoms went away.

‘Cure’ will mean different things to different people. We want to be sure that the information we are sharing is clear and realistically hopeful.

Whilst our vision is for every newly diagnosed child with Rett Syndrome to have access to treatment that will stop the typical progression of untreated disease, we do not know how older children, adolescents and adults who have already been living with Rett Syndrome for many years will respond.

But these mice had been genetically engineered before birth, so that they had a ‘switch’ inside them, which meant scientists could switch the protein back on at any point in time.

As people with Rett Syndrome do not have a switch inside them, these experiments, although promising, did not provide a way to put the protein back in people living with Rett Syndrome.

In lab experiments, even mice in late-stage disease had significant improvement in symptoms, with the complexity of Rett, and the damaging effects of so many entangled symptoms over the years, it is likely that young people and adults with Rett Syndrome who have gene therapy will need a great deal of intervention and support to regain lost physical abilities.

Since 2010, Reverse Rett has supported RSRT lab research exploring different ways of putting Mecp2 protein back, or replacing the MECP2 gene that makes it.

Now, in 2022, there are a number of pharmaceutical companies who are working to bring gene therapy products to human clinical trials.

There is so much we don’t know.

But what we do know, is that every affected individual with Rett Syndrome deserves the maximum opportunity for improved health, longevity and ability.

These trials will be aiming to repair the underlying cause of Rett. No one knows what the end result will be for people living with the condition. That’s why these human clinical trials are needed.

It’s an exciting time and whatever we call it, that’s what we’ll keep fighting for.

But based on many experiments that have taken place in mice over the last decade, there is hope that gene therapy could enable children, adults and adolescents with Rett Syndrome to: Be healthier and live longer Move and use their body more freely and easily Feel well and able to fully participate in life

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CURRENT UK CLINICAL TRIAL We are still recruiting for the Anavex 2-73 trial in children ages 4-18. There are 5 trial sites around the UK, 2 in London, Nottingham, Manchester and Edinburgh.

We received over 80 expressions of interest from families but with each site looking to recruit between 5 and 8 patients unfortunately some will miss out on potentially participating.

This is a trial of a medication. It does not aim to target the underlying cause of Rett but does aim to improve some of the symptoms.

It’s important to remember that this is a trial not a treatment. Clinical trials are unpredictable but whatever happens the doctors, scientists and companies involved will learn from the outcomes. Every single trial is a step closer to effective treatments for Rett Syndrome.

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You can find out more about the Anavex trial by watching this recent Bitesize video.

ANAVEX 2-73 CLINICAL TRIAL SITES IN THE UK PROFESSOR SANTOSH Professor Santosh and his team at the CIPP Rett Centre will be holding their third clinical trial for Rett Syndrome. The CIPP Rett Centre are based at King’s College Hospital, where clinical trials take place at the NIHR King’s Wellcome Clinical Research Facility. This clinic sees patients with Rett multiple times a week and has no age limits. The current clinical trial is for patients age 4-18.

Prof Santosh and team also worked on the Anavex 2-73 trial for adults.

DR DANIEL LUMSDEN Dr Daniel Lumsden and his team at the Evelina Hospital will be undertaking their first clinical trial for Rett Syndrome. The Evelina Rett clinic sees patients under 19 on a bi-monthly basis.

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PROFESSORMARTIN SIDDARTH BANKA DR KATHERINE Professor Siddarth Banka taken and his team the Manchester Centre for Dr Katherine Martin has recently over the at twice-yearly Nottingham under Genomic Medicine are taking part in their second clinical trialChildren’s for Rett 19s Rett clinic from Dr Jane Williams.

This team based at Nottingham Syndrome.

The Manchester Rettclinical clinic is a twice-yearly clinic. Prof Banka Hospital will be undertaking their first trial for Rett Syndrome. has also worked on the adult Anavex 2-73 trial.

DR DR DANIEL LUMSDEN JAY SHETTY

Dr Daniel Lumsden and his team at the Evelina Hospital will be undertaking Dr Jay Shetty and his team from the Royal Hospital for Sick their first clinical trial for Rett Syndrome. The Evelina Rett clinic sees patients Children in Edinburgh will be undertaking their first clinical trial under 19 on a bi-monthly basis. for Rett Syndrome.

PROFESSOR DR KATHERINESIDDARTH MARTIN BANKA

Professor Siddarth Banka and his team at the Manchester Centre for Dr Katherine Martin has recently taken over the twice-yearly Nottingham Genomic Medicine are taking part in their second clinical trial for Rett under 19s Rett clinic from Dr Jane Williams. This team based at Nottingham Syndrome. The Manchester Rett clinic is a twice-yearly clinic. Prof Banka has Children’s Hospital will be undertaking their first clinical trial for Rett also worked on the adult Anavex 2-73 trial.

Syndrome.

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NASHVILLE

BY RACHAEL STEVENSON

Neurogene Team

The clinical landscape for Rett Syndrome has changed quite significantly in the last three years.

During that time, we have been working closely with people from different organisations and pharmaceutical companies in the interests of people with Rett Syndrome in the UK but, until this April, always over Zoom or Teams.

The ASCEND conference in April was the first opportunity we’ve had since the pandemic started to actually meet with some of these people and connect with companies and organisations in real life. Whilst Covid has certainly enabled everyone to connect more effectively and travel less, real life meetings are still the best place to build relationships and nurture new collaborations.

Taysha Team

Whilst in Nashville, we were able to meet in person with Taysha Gene Therapies, Neurogene, Anavex and Acadia and connect with fellow parent organisation leads from around the world. There were multiple opportunities to listen to useful informational sessions.

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One which stood out to me was Dr Girish Sharma talking about respiratory infections in Rett Syndrome, whose main emphasis was about being proactive about preventative measures immediately after diagnosis.

Please see the Bitesize section on page 24 for details on Dr Sharma’s upcoming presentation in September.

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Another presentation which stood out to me was one which I hadn’t been sure about attending initially.

It was by Chris Ulmer of Special Books for Special Kids and the title was acceptance etc.

Andy and I debated whether to attend because we weren’t sure how a message of acceptance is necessarily appropriate. Neither of us accept that Amber or Beth should have to live with the limitations of Rett Syndrome.

But Chris’s lively presentation which included lots of videos of his interviews with children and young people with lots of different conditions was really about the world including people with disabilities and not seeing them as different or other, which we all absolutely want.

Chris Ulmer

At the same time, we want them to be well, and to be able to do as much as possible and enjoy life as much as possible. Everything about Chris’ presentation suggested to me that he wants the same thing for everyone too.

The overall message seemed to be about demystifying disability and difference, and recognising that there is inherent value in us all learning more about each other’s point of view. We were glad in the end, that we decided to listen in with an open mind and hope to have Chris on the podcast in the coming months, watch this space.

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A personal highlight for me was bumping into Mel and Katie Lancaster. Katie was the first girl with Rett Syndrome we met after Amber was diagnosed with Rett in the year 2000. At the time, I remember thinking how captivating she was and how she said so much with her eyes. It gave me hope that maybe we could learn to live with this diagnosis. Katie is a young woman now, but her eyes were just the same. Weirdly, she seemed to recognise me too. I hope that one day, we can bring Amber and Katie together again. I will always be grateful to Mel for being so open and welcoming to us at that time, when the only way you could really find out about the condition was by phoning or meeting with another family going through the same thing.

Katie

It was great to finally meet some of the people from Taysha and Neurogene at the recent ASCEND National Rett Syndrome Summit in Nashville after a couple of years of Zoom calls. As we are a patient centric organisation it was especially impressive to hear about how they are putting the patient’s needs at the top of their list.

Mari Boczar

It was a really motivating few days. The highlight for me was listening to Meir Lotan talking about how to decrease the odds of people with Rett Syndrome avoiding scoliosis surgery, I wish I’d known some of the information he shared before my daughter, Beth’s operation back in 2013.

I really hope we can get Meir on a Reverse Rett Bitesize session in the near future.

It was also great to bump into some old friends like Mari Boczar, who I ran the Cambridge Half Marathon with in 2019, and make some new ones. It was inspiring to finally meet Leslie Mehta after reading her Facebook posts after she lost her daughter, Brooke last year. The strength her family has shown since losing their daughter in incredible.

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It’s an exciting time for everybody connected with Rett Syndrome and both Rachael and I came away from Nashville with renewed energy for the fight.

- Andy Stevenson

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HOW WE CAN HELP WITH CIPP RETT CENTRE REFERRAL The CIPP Rett Centre is a clinical treatment and research centre for children and adults with Rett Syndrome and related disorders of all ages, core-funded by Reverse Rett.

CIPP Rett monitoring will allow the CIPP Rett team to establish what the individual’s baseline/normal symptom variability is and then to be able to identify when there are changes which need to be addressed. They can also cross check medication contraindications, monitor side-effects and look out for medications which may prolong the QT interval.

Based at King’s College Hospital, the Centre looks after some of the UK’s most complex children, adolescents and adults with Rett Syndrome. They also monitor many other patients nationally through the CIPP Rett Database and conduct clinical trials.

You do not need to go through Reverse Rett to access the CIPP Rett Centre. The Centre accepts referrals from a variety of sources.

These include Consultants from various specialities (including paediatricians and neurologists), GPs, patient organisations and self-referrals. However, we can help you with both general and urgent referrals so please don’t hesitate to get in touch if this is something that would be helpful to you.

Typically, the CIPP Rett Centre cares for patients with Rett Syndrome of any age, who are struggling with emotional, behavioural or autonomic issues, including things like breathing irregularities and dystonia. Patients with Rett Syndrome can also become more complex due to being on multiple medications, so once your loved one is under 2 or more specialities and on three or more medications, it is a good idea to sign up for CIPP Rett monitoring, even if you do not feel you need a full assessment.

It does not cost patients and families anything to access the Centre.

To refer a patient to the CIPP Rett Centre, or to request monitoring, pls email: cpmrs@slam.nhs.uk or contact cipp_rett@reverserett.org.uk for more info.

Both for a full referral and for CIPP Rett monitoring, parents/carers will be asked to complete some online questionnaires, which will help the team better understand the symptoms your loved one is experiencing.

If you are requesting an assessment by the Centre, they will use the completed questionnaires to assess your situation and to prioritise the referral. They will also get in touch with your local GP or other doctor directly because it is important for the teams to work together to ensure the best possible outcome in terms of treatment.

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A FLYING VISIT TO BELFAST

BY RACHAEL STEVENSON

I was pleased to be invited to speak at the Rett UK & Rett Syndrome Ireland Family day in May 2022.

I was asked to provide an update on gene therapy and my session was only 15 minutes long, but I decided to go to the meeting in person because my recent experience in Nashville taught me that seeing a presenter on the screen at this type of meeting is less than satisfactory after being on so many zoom meetings etc over the last few years.

Katie Murtagh

Screen presenters also usually end up in a tiny box at the side of the screen whilst you are gazing at a giant presentation which is also not as good as watching and learning from a (hopefully) animated and expressive human being.

It was a pleasure to see everyone but when making my presentation, I did start to think more about how Reverse Rett can share information about upcoming gene therapy trials and these potential treatments in a way which is more understandable and meaningful to children, adults and adolescents with Rett Syndrome.

I flew out to Belfast on the Saturday morning and met the Rett UK and Rett Syndrome Ireland teams on arrival. It was good to see so many families from all around the island of Ireland, many of whom I had not seen in person since my last visit to a Rett Syndrome Ireland meeting in 2012.

Typically when I speak to audiences about Rett and the potential for treatment, I am speaking to parents, their friends, families and communities but more often than not, there are no people with Rett Syndrome present.

The audience was mostly families and their family member with Rett Syndrome. Many young women and girls with Rett were sat at tables. Some were napping, others were happily moving about the room independently and some were taking their parents on short walks or long walks.

Although there were some more medical and research based presentations early in the day, the meeting had a strong communication focus, which set the tone for the day, with individuals with Rett Syndrome as active participants in the sessions as much as possible.

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We need to ensure that individuals with Rett and the families supporting them, understand our goals for these emerging treatments as well as acknowledging that the prospect of volunteering for a clinical trial or even accessing therapies and treatments once they have been trialled, may be frightening.

Dr Daniela Tropea

As an organisation, we need to work on how to effectively manage the expectations as well as the hopes and fears of our community as we move into this unchartered territory. Subsequent to the Belfast meeting, I was able to share these concerns with the Rett UK team who welcomed this dialogue.

As we are now reaching a time when there will be clinical trials which we are hoping that patients and families will volunteer for, as well as potential treatments emerging which may help people live better, healthier and easier lives, we need to be communicating more effectively with people living with Rett Syndrome themselves, about what gene therapy is and why we think it is an important thing to try.

Moving forward, we hope to address broader communication regarding emerging treatments in partnership through the wider UK Rett Disorders Alliance. Your thoughts and suggestions for this work moving forward are greatly appreciated, so if you have any ideas or comments to share, please do get in touch.

We also need to be sure that we are conveying positive messages to children, adolescents and adults living with Rett Syndrome, so that they understand, as much as they are able, that these emerging treatments are not about changing them, but about changing the difficulties they live with and the inherent risks to life and health which are part of the condition.

rachael@reverserett.org.uk or rob@rettuk.org

Rachael x

Rob Adamek & David Rogerson , Rett UK Trustee N REACH

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2022 RESEARCH FUNDING: RSRT’S MECP2 REACTIVATION COLLABORATION Whilst Rett gene therapy trials are set to begin in 2022, it is still essential that we continue to fund both research programs seeking to refine gene replacement approaches and different approaches to treating the underlying cause of Rett; a deficiency in Mecp2 protein, caused by the faulty MECP2 gene.

All the current approaches to treating this issue have inherent challenges and we will only know how successful each program will be in people with Rett when clinical trials of each program begins.

Whether those trials are successful or not, it is important to remember that in the long term, the standard treatment for most treatable conditions is not the first or second treatment that was trialled. Most go on to be refined and improved or replaced by the next generation treatment, typically a treatment using improved technology.

To that end, in 2022, Reverse Rett are partnering with RSRT to support their MECP2 Reactivation collaboration between Tony Bedalov, Kyle Fink, and Shawn Liu. Through this collaboration, brokered by RSRT, the labs are using CRISPR-Cas9 as an epigenome editing approach.

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“Mutations in MECP2 in females result in mosaicism: there are healthy cells that have the healthy copy of MECP2 on and the mutant copy off, but in other cells, the opposite is happening, the mutant copy is on with the healthy copy off,” explains Fink. “Our approach, along with Toni, is to go in and reactivate the healthy copy in those cells.”

“Rett is a disease where it is very important to get the gene dosage right,” says Bedalov. “In gene therapy, you add a new copy of a gene and hope that it makes a lot of protein. But for MeCP2, having too much is nearly as harmful as having too little. Getting the right dose is tricky. This approach helps get the dosage right.”

“With epigenetic editing,” says Fink, “We don’t force a high level of gene activity. Instead, we’re just releasing the gene to function like it would if it were the copy that was turned on. The cell has natural ways to regulate the amount of protein for normal genes, so we don’t have to worry about getting such a high level of protein that it’s actually harmful. It’s a high risk project, but if it works it will have a high reward.”

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SPEECHLESS

BY RACHAEL STEVENSON

Recently, I went ‘speechless’ for Reverse Rett. I really did this because I usually do one fundraising challenge a year and this sounded pretty easy and peaceful. It was neither.

Here are some things I learned from not being able to speak for 24 hours: When you can’t speak, people stop talking to you very quickly. You see them come in wanting to say something and then, they remember you can’t speak and don’t bother.

It’s a lonely experience because you still want to hear what’s going on, big things and small, like who they were talking to when they popped out to the car or who was on the phone.

Sighing is a tremendous relief and release, freely available to all.

Laughter in all its forms feels so liberating and specific for a non-verbal response.

Your mouth gets very dry bc you’re not moving it around as much so that needs more attention from helpers.

You have ideas, thoughts, questions and responses they have just can’t go anywhere and this puts you on the outside of what’s happening even when you’re physically there.

Being able to gesture Yes/ no is a monumental advantage.

Without the reciprocity of dialogue, regular physical contact is more important and I longed for it throughout the day.

What’s for lunch and other treats feel extra important and exciting.

You feel much more nervous about interactions with strangers when you know they will speak to you and you can’t speak back.

Without a speaking voice, your interior dialogue is louder and more of a sweet friend.

Because of this you start not minding the exterior being quiet as much as you thought you might have.

ou long for familiar people who are coming or going to seek you out and open or close the time you have together with the customary greetings. (e.g hello, goodbye, nice to see you etc.)

Other sounds become really Mmm? Ah…. Mmhuh...ohh...ooh.

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If you are considering doing a ‘speechless’ challenge: Please do it for Reverse Rett. As you probably already know, 98% of people with Rett Syndrome have no speech at all.

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Before you embark on this challenge, ensure someone around you is ready to say please and thank you for you in restaurants and where appropriate to tell people what you’re doing so you don’t feel/look rude.

If I really wanted to feel what it would feel like to be Amber or Beth I wouldn’t be able to do any of that. Nor would I be able to get myself up, dress myself, feed myself, reach for a drink, go to the toilet, or move around the house, never mind go for a walk. ‘You’d have to hire someone else to help you all day for a whole 24 hours and do absolutely everything for you, it’d be awful,’ said my eldest son, Peter, when we were discussing the concept.

You should schedule social media posts as obviously with also not being allowed to write with a pen or type, you can’t remind people of what you’re doing and with every passing minute, you feel like you should be getting more and more sponsorship

Often when I think about gene therapies or other treatments which are coming which will address the underlying cause of Rett, I think ‘please can Amber just be healthy and feel well and live longer.’ I would love if she could eventually, with therapy, stand up again and maybe pick up something (anything) and hold it for a few seconds in her hand.

Overall I would say although this is a difficult challenge emotionally it is totally do-able, if only because you know that the situation is not permanent. But I can’t imagine knowing I would never be able to properly communicate again.

Speech has always seemed too much to hope for but after this challenge, I am willing to stretch. There would be nothing that could improve her life more than the autonomy and presence gifted to us through voice and I want her to have it.

In terms of better understanding what Amber, Beth and everyone else with Rett lives with, it doesn’t really scratch the surface. I had masses of advantages that they don’t have. I could use my hands. I could gesture, indicate yes and no and the windy hand thing you do when you want someone to carry on. I could point. I could cup my ear, shrug, lift my hand up like ‘what?’

Thank you to everyone who donated and offered kind words of support for this challenge. Your support is greatly appreciated!

I also send my best wishes to everyone else who has done the challenge or is considering it. It really is an insightful experience for anyone supporting someone who cannot speak.

Rachael x You can view Rachael's JustGiving page here

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COULD YOU GO SPEECHLESS? Special thanks to...

The Speechless for Rett challenge will remain open throughout the next few months and we urge you to take part!

Judith McDonald 24 hours, Carolynne Mitchell 24 hours, Heather Dunn 24 hours, Dyanne Gunn 24 hours, Barbara Coate 24 hours, Rachael Stevenson 24 hours, Megan Ebanks 24 hours, Melise Davidson 24 hours, Janet Taylor 24 hours, Hazel Mackay 12 hours, Lee Jevons 6 hours, Carla Ball 4 hours, Year 5 at Surbiton Girls Prep School, Year 6 at All Saints Benhilton School, Royal Russell School.

Anyone can do it, anywhere, any time.

We’ll send you all the resources you need as well as a certificate to acknowledge your efforts once you’re done 😊 Our sincerest thanks and kudos to all the individuals and schools who have taken part so far – please now encourage friends, family and colleagues to take on the challenge too!

Sign up to go Speechless for Rett here.

Melise

DO YOU HAVE A BUDDING MODEL IN YOUR FAMILY? As always, we are in need of new images of children, young people and adults with Rett Syndrome and their families for the Reverse Rett website and literature.

We are especially keen to include families of diverse and non-traditional backgrounds and people with Rett of all ages. If you’d like to have some professional pictures taken by our sensitive and talented photographer, Wesley (Reverse Rett Design and Marketing Guru) then please let us know. We’ll travel to you.

Email beth@reverserett.org.uk

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BIG GIVE CHRISTMAS CHALLENGE 2022 This will be our 13th year of being involved and we are close to raising £1.5M in that time. It’s a week of great excitement as you, our families and supporters, donate every spare penny you have, to DOUBLE the impact on the work we do.

Supporters save throughout the year in our loose change boxes which they then bank and donate through the Big Give website. Every donation is doubled until we reach our target.

Our core fund has been pledged (thank you once again Mr and Mrs Sharpe) and our application has been submitted so please start saving in preparation to help us reach our target for the 13th year in a row.

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WINTER GALA 2022 If you’ve attended the London Winter Gala in the past, you’ll know it’s a pivotal fundraising event and the highlight of our social calendar!

If you haven’t attended before, 2022 is the year to start!

This year we’ve put together a comprehensive 5-tier sponsorship package with opportunities for individuals/companies to benefit from the event’s multiple platforms, as well as to truly maximise its impact.

For families, there’s again the opportunity to sponsor one of the stunning hanging banners which adorn the Great Hall, in honour of your loved one with Rett.

Purchase tickets, tables and sponsorship here.

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GOLF DAY FOR REVERSE RETT

BY ANDY STEVENSON I first met Ray Holden when he came to me for a Golf lesson. His aim was simple, he wanted me to help him break a 100. It didn’t take him long to achieve as he approaches everything in life with precision. He was soon down to the low eighties and he’s never looked back.

I had 15 years as the Golf Professional at Mersey Valley and after Beth was diagnosed I had wonderful support from the members who continually supported my fundraising. After cofounding Reverse Rett they stepped up again and Ray went one stage further.

He held his first Barclays Golf Day at Mersey Valley in 2011 when I was still working there and carried on holding them every year (except for 2 years due to lockdown) ever since.

This year was his 10th and it was a pleasure to borrow some clubs and return to the Valley to play in it. It was yet another great event which thanks to Barclays Matched Funding raised £2000.

When you're a parent and often in despair it's help like this that helps you get through the dark times.

Just knowing that there's people like Ray quietly making a difference because of your child means the world.

Andy

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SAHARAN WOMEN’S CHALLENGE Ladies, who’s up for a challenge? We all know that us mums are often the ones left at home looking after the kids and keeping things ticking, whilst the men are off on amazing challenges across the globe!

Well this autumn, it’s the women's turn to stride out . . .

When: 13th-17th October 2022 Where: Morocco What: 84kms across 2 days (we’ll be walking, but you can jog/run if you like!)

Who: all the women! (mums, grandmas, sisters, aunts, cousins, nieces, friends) This is going to be an epic adventure and we'd love you to join us for it! There are still land only options available - please contact beth@reverserett.org.uk ASAP! Read full details of the challenge here.

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INSPIRATIONAL FUNDRAISER Gareth Warne is no stranger to epic challenges! Over the past few years he's taken on mutliple gruelling tasks, all centred around his 'pink elephant' icon in memory of his sister, Angharad, who passed away in 2005.

This year Gareth took 'the greatest hits' from his previous challenges and rolled them into one mammoth 24-hour challenge.

Starting at 11am on Saturday 25th June, Gareth started 24-hours of continuous summits of Butser Hill in Hampshire, alternating between pulling a 24kg weighted sled and wearing a 10kg weighted vest or 14kg wheelchair on his back!

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Over the 24-hours Gareth covered 48 miles, completed 23 summits and exceeded 11,000 ft!

Huge thanks to Gareth and his wife, Harriet who supported him every step of the way.

An awesome team and an amazing achievement!

I certainly never saw Angharad as anything different. She was my little sister, she was who she was.

When we were told that Angharad wasn't like everybody else, I have no idea how my mum and dad actually worded it but apparently the first thing I said was "Well we'll just have to love her even more then."

- Gareth Warne

CHECK OUT GARETH'S NEWE PODCAST HER

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WARRINGTON WOLVES ACADEMY CLIMB SNOWDON

BY ANDY STEVENSON It was a pleasure to join the Warrington Wolves academy team on their recent climb of Snowdon. Both players and coaches took on the highest mountain in Wales for Reverse Rett and the Warrington Wolves Foundation.

I was invited to speak the night before the climb at the latest Squadbuilder event to tell the players and fans who attended all about Rett Syndrome and the work of Reverse Rett.

The feedback was really positive and it was great to spread the word to so many people who had never heard of Rett Syndrome.

The sun soon burned away the mist and it turned into a real scorcher of a day. There was a further challenge as the boys had to take it in turns to carry a defibrillator on their backs. We made it to the summit in just under 2 hours. It was then lunch, a few photos and the descent back into Llanberis. Once we found the coach it was back to the Village for a much needed feed.

Everyone enjoyed the day and it was a great experience for these young lads who did a great job of fundraising raising over a £1000 for each charity.

It was a 6am start the next morning at the Village Hotel in Warrington where we all had breakfast as a group before boarding the coach to Wales. Most of the lads had never climbed a mountain before so it was a whole new experience for them. There was a bit of apprehension on their faces as we arrived to see a blanket of cloud on the mountains.

We set off at a fierce pace, led by 69 year old Phil ‘Chaddy’ Chadwick, who has been part of the fabric of the club for over 30 years and one of the fittest men I’ve ever met who kept everyone entertained with jokes and motivational speeches.

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CHANGE IS WITHIN REACH

We have had superb support from Warrington Wolves over the years and this was another fantastic event. Huge thanks to everyone involved especially Alex Chicken who is Chair, Warrington Wolves Supporters' Trust and Squadbuilder, Academy Coach, Rich Marshall and our long time ambassador and fundraiser, Gary Chambers who is now Head of Youth at the Wolves. After spending the day with this fabulous group the future is bright for the Wolves.

It seems fitting to leave you with a quote from Gary.

At the Wolves, we look to teach the players how to deal with adversity.

Andy spoke to the players about Amber and Beth. What he said showed the players the true meaning of adversity and never giving up.

We used the talk as our inspiration to reach the summit of Snowdon.

Andy & Gary

Those 2 girls were with us every step of the way."

- Gary Chambers

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FAMILY FORUM Since March 2021 our Family Forum sessions have taken place every month on Wednesday evenings at 8pm.

In that time we’ve learned so much from each other! So much so, that we suspect the professionals involved with our daughters’ care have probably come to dread their inbox on Thursday mornings, as we all come away from the sessions with ideas and action points for all aspects of our children’s lives!

There’s no agenda and no judgement, just honest, open chat about all things Rett-related. Any family members can join (it’s not just one for the mums!) and if you’d like to come along and just listen, that’s fine too.

You can find and book upcoming sessions on our Informational Events page here.

BITESIZE WRAP-UP Following the success of our Bitesize sessions throughout 2021, we were excited to bring Bitesize back this Spring!

Between March and May we held six sessions, covering physiotherapy, genetic therapies, the Rett Registry UK, puberty, great services for disabled children/adults and the Anavex clinical trial.

Over 350 people attended the live sessions, with a further 1000 views via our YouTube channel These sessions continue to be a source of invaluable information to families (including ourselves!) and we are hugely grateful to the clinicians, scientists, healthcare professionals and parents who give their time and expertise.

Bitesize will be back again in the Autumn, kicking off with Dr Girish Sharma speaking about respiratory issues in Rett Syndrome. You can book your free places for this session here.

If you have any requests or suggestions for Bitesize topics, we’d love to hear them; please email beth@reverserett.org.uk

REVERSE RETT MATTERS

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MEET THE TEAM EWELINA - CLINICAL TRIAL AND RETT REGISTRY COORDINATOR Tell us about yourself ?

My name is Ewelina Wasowska I am originally from Poland, I moved to the UK in 2006 and I have been working for Reverse Rett for 3 years. I am currently studying English at college and my hobbies include; cycling, baking, reading, and spending time with my Husband, Marek and Daughter, Martyna.

What do you do at Reverse Rett?

I’m the Clinical Trial and Rett Registry Coordinator.

What is the best thing about working for Reverse Rett?

I am pleased to have the possibility to be a part of the Reverse Rett Team and help to change the lives of people with Rett Syndrome. I do my job with dedication, and I hope that one day Rett Syndrome will be completely curable.

Describe yourself in three words: Organized, funny, helpful.

Which words or phrases do you most overuse?

Oops, a word that I overuse can’t be put here, sorry :) If not yourself, who would you most like to be?

I never thought about this before because if I wasn’t myself right now, I wouldn’t have met all these fantastic people.

Tell us something no one at Reverse Rett already knows about you?

I love knitting, shh!

Favourite ice cream flavour?

My favourite ice cream flavour is homemade vanilla.

CHANGE IS WITHIN REACH

A BIG SHOUT OUT TO ALL THE BIRTHDAY FUNDRAISERS Pledging your birthday to charity is supersimple via Facebook and a really easy way to raise critically-needed funds.

Simply select ‘fundraisers’ from the left-hand list on Facebook, then select the charity, enter your details, and you’re off! Share with friends and family and let them know why you are choosing to support Reverse Rett.

If you’re not on Facebook, it’s also really easy to set up a JustGiving page to celebrate your birthday and ask for donations.

In these critical times, every donation really does make a difference. Thank you for choosing to use your special day to help others!

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Reverse Rett Statham Link 1F Lancastrian Office Centre, Talbot Road, Old Trafford Manchester M32 0FP 0161 413 0585 info@reverserett.org.uk

www.reverserett.org.uk

Find us on Facebook, Twitter, Instagram and Vimeo under 'Reverse Rett'

Registered charity in England & Wales, charity number 1136809 and in Scotland, charity number SC046735.

A company limited by guarantee number registered in England & Wales, company number 07278507.