Reverse Rett Annual Report, period 1/7/2012-31/12/13

annual report 2013

Romi is 9. She was diagnosed at 3. Romi can no longer talk or use her hands. She has limited mobility.

She has epilepsy. But she is as bright as a button. She loves books and stories and she adores music: Romi’s playlist features a lot of Northern Soul, a touch of Frank Sinatra and The Beatles.

welcome Dear Friends, This year has been a pivotal year for Reverse Rett. The organisation has grown exponentially, more than quadrupling our research commitment in just three years.

romi

This has only happened because of the determination and stalwart support of people like you.

Reverse Rett is a different kind of charity. Ours is death-defying work; our children grow older with each passing year without treatment. We fund cutting edge, expensive research. To fund as much as possible necessitates a fine balance between keeping our costs low and investing in enough resources to ensure that we can do the work we do well, ultimately increasing our research commitment year upon year.

This work yields results. In this period, the RSRT MECP2 Consortium, supported

by Reverse Rett, has brought to light better understanding of the function of the Rett protein. A new RSRT Consortium has been formed to develop the potential of gene therapy as a future treatment, for the first time revealing a tangible way to reverse Rett Syndrome in humans.

Recent data also suggests there may be many ways to improve Rett symptoms pharmacologically– at least in mice.

The next few years will continue to bring clinical trials and pilot studies of existing medications and procedures to explore whether, applied individually or perhaps in combination, they can relieve symptoms in humans.

Imagine the symptoms of autism, cerebral palsy and epilepsy all in one little girl.

This is Rett Syndrome. Reverse Rett exists for one reason: to make these symptoms disappear.

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

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

Since 2010, we have delivered over £2million to the research projects we support.

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Treatments are on the horizon but time is not on our side. And so we face a new challenge. As well as continuing to strengthen our contributions to international research, we must ensure that the infrastructure required to implement UK-based clinical trials or pilot studies of emerging treatments is in place, so that our children are able to benefit from those potential treatments as soon as possible.

This will necessitate a new level of collaboration, determination and drive. It will call upon us to stretch ourselves in every conceivable way. We need your help. Whoever you are, whatever you do, there is something you can do to make a difference.

When Reverse Rett won the Charity Times’ Best New Charity Award in 2011, the judges called us ‘a tiny charity focused on science, founded on love.’ Our organisation has grown; we must keep growing, keeping our focus on science - and always, at the heart of it, your child and mine.

Rachael Bloom Founder, Executive Director

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is a cure really possible?

Rett Syndrome is a neurological disorder that strikes little girls around the time of their first birthday and ends their parents’ hopes and dreams for their future.

It strikes at random in early childhood, affecting little girls almost exclusively. Each of these girls will lose the ability to walk, talk and use their hands. Most will have difficulty breathing and eating. All are at increased risk of sudden and unexplained death. Many girls live into adulthood, requiring total, 24-hour-a-day care. There is currently no effective treatment.

That’s why we aggressively fund vital medical research working to develop treatments and a cure for this devastating condition.

Rett Syndrome is caused by mutations in a gene called MECP2. MECP2 produces a multi-functional protein, also called MeCP2 (but written differently) which is critical for normal brain function. People with a MECP2 mutation do not produce enough MECP2 for their neurological systems to function effectively.

In 2007, at the University of Edinburgh, in the laboratory of Professor Adrian Bird, it was demonstrated that if the damaged MECP2 gene could be switched back on, mice that were desperately ill with Rett could make a complete recovery. This indicated for the first time that Rett Syndrome did not demonstrate neurological degeneration but neurological malfunction, which could be reversed.

This result was dramatic and unexpected, demonstrating the remarkable potential of Rett Syndrome to become the world’s first reversible neurological disorder: but it did not point to how we can achieve this in people.

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However, the discovery brought great hope and a new impetus to accelerate research, which is now yielding promising results, moving us ever closer to clinical trials.

research funding focused on four elements 1 Understanding the underlying causes of Rett Syndrome, so that researchers can design rational therapies to circumvent the problem.

2 Increasing levels of MECP2 protein, which is normally made by the faulty gene and which does not express at adequate levels when the gene is mutated.

3 Finding

a way to bypass the MeCP2 protein.

4 Treating the symptoms of Rett Syndrome.

Funds raised in the UK go to basic research into Rett Syndrome through the International Research Program that is managed by RSRT and their Scientific Advisory Board.

Reverse Rett Co-Founder and Executive Director, Rachael Bloom, joined the RSRT Board of Trustees in April 2013, cementing the already strong relationship between RSRT and Reverse Rett.

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our priorities To fund research focused on delivering treatments and cures for Rett Syndrome and related MECP2 disorders, from basic science to clinical trials. Over the last four years, we have become the leading charity in the UK funding medical research into Rett Syndrome, delivering over £2 million to the US-based Rett Syndrome Research Trust’s International Research Program.

To work with UK doctors to make clinical trials possible for girls and women with Rett Syndrome in the UK, and to develop a centre of excellence for the clinical delivery of treatments.

To ensure the sustainability of Reverse Rett as an organisation, so that we can see our vision all the way to its ultimate conclusion.

contents 4-9 Is a cure really possible?

13 News 15 Changemakers 17 Our celebrity supporters 19 Our amazing fundraisers 21-22 Financial summary 23 Our people 24 MECP2 Duplication Fund 25 Thank you 27 Looking ahead

research outcome 2013 In 2013, Reverse Rett supported collaborative research at the labs of Gail Mandel at Oregon Health & Science University and Adrian Bird at the University of Edinburgh. This collaborative effort demonstrated that replacing defective MECP2 genes in mice with good MECP2 genes, by means of gene therapy, restored normal health and behaviour.

What this research showed, for the first time, was a dramatic reversal of the symptoms of Rett Syndrome in fully symptomatic mice, using a technique that could also be used in people.

Several other research pathways to increase MECP2 protein levels or to mitigate the effects of the lack of MECP2 are also being pursued.

These could lead to a dramatic reduction of negative symptoms, even if they fall short of a complete cure.

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“ While there have been major advances in understanding the molecular actions of the MECP2 protein, it is still difficult to conceive of a small ‘traditional’ drug molecule being able to mimic its function. While traditional drug approaches will likely be restricted to correcting specific aspects of what goes wrong in Rett it is conceivable that gene therapy can correct the cause of Rett at its very source and thus provide a profound recovery of function.”

Stuart Cobb, Lab Head at The Institute of Neuroscience and Psychology College of Medical, Veterinary and Life Sciences, University of Glasgow.

underlying causes – basic science MECP2 consortium where

Three labs in collaboration: Adrian Bird, University of Edinburgh, Mike Greenberg, Harvard Medical School, Gail Mandel, Vollum Institute, Oregon Health & Science University HHMI

summary

We know that if the MECP2 protein is replaced, the symptoms of Rett Syndrome go away. What we don’t yet fully understand is exactly how the protein works and how it influences the human brain.

The MECP2 Consortium works to understand the structure and role of MECP2 in neurological development and maintenance. This understanding will inform the design of rational treatment strategies.

total contribution to date £167,304

research outcome 2013 New findings from the MECP2 consortium suggest that when MECP2 fails to bridge an important protein complex called NCoR/SMRT to methylated DNA, at either end of the process, the result is Rett Syndrome.

increasing levels of MECP2 protein a chemical genetic approach for unsilencing MECP2 where

University of North Carolina at Chapel Hill

summary

Isi was diagnosed with Rett Syndrome at the age of 3. She has a brilliant mind, locked in to a body that doesn’t work. Isi can’t walk or speak and is fed through a tube. She has spent 11 months in hospital in the last 3 years.

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As well as the ‘broken’ copy of the gene, all girls with Rett Syndrome have a healthy copy of MECP2 which happens to be silenced or ‘switched off.’

These researchers have identified compounds to ‘unsilence’ the gene for Angelman Syndrome, another complex neurological disorder. They are now using similar methods to switch on the healthy copy of the Rett gene, MECP2, trying over 20,000 compounds to see what works.

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total contribution 2012-2013 £119,781

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bypassing MECP2

justice for our girls

identification of gene modifiers that ameliorate rett symptoms where

Monica Justice, Ph.D. Hospital for Sick Children (Toronto)

summary

Random mutations are not always a bad thing: sometimes they can be useful, helping to ‘protect’ a person from more damaging mutations in genes such as MECP2.

Monica Justice is carrying out a long-term screening project to find any gene that might interact with MECP2 in a useful way.

“ The biggest finding is the discovery that this pathway is so important to the pathology of the disorder; it suggests new directions for trying to learn more about Rett Syndrome.

Emerging evidence from both mice and humans suggests that Rett Syndrome may have a component of disease that is metabolic. Certainly, this study will further clarify our data, and may suggest avenues for treatment that were previously unexplored”

Funded through the Big Give Christmas Challenge 2013 With the determination of our amazing community of supporters, in 2013, we smashed our fundraising target for the 4th year in a row, raising an amazing £121,250.04 through the Big Give Christmas Challenge to support the gene modifier screen at the lab of Monica Justice.

With huge thanks to everyone who made the Christmas Challenge possible.

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Monica Justice, Ph.D.

treating the symptoms

monica justice, Ph.D.

total contribution 2012-2013

£105,187

where

research outcome 2013

Aleksandra Djukic, Montefiore Medical Center Prof. Bruria Ben-Zeev Md, Sheba Medical Center

At only 15% of the way through the screen, there were five ‘hits’: genes that appeared to modify the effects of the MECP2 mutation, increasing lifespan and decreasing Rett-related symptoms in mice. One modifier, Sqle, is in the cholesterol pathway and suggests that statins may potentially be a useful type of treatment in Rett Syndrome.

Researchers are now working closely with Rett clinicians to prepare for potential clinical trials.

“The biggest finding is the discovery that this pathway is so important to the pathology of the disorder; it suggests new directions for trying to learn more about Rett Syndrome,” Dr. Justice explains. “Emerging evidence from both mice and humans suggest that Rett Syndrome may have a component of disease that is metabolic.

Certainly, this study will further clarify our data, and may suggest avenues for treatment that were previously unexplored.”

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pharmacological treatment of rett syndrome with glatiramer acetate (copaxone)

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summary

Bdnf is a neurotrophic factor. Neurotrophic factors are a family of proteins that are responsible for the growth and survival of developing neurons and the maintenance of mature neurons.

Research has shown that mouse models of Rett Syndrome have low levels of bdnf and that increasing bdnf levels in those mouse models is beneficial.

An FDA-approved drug for multiple sclerosis called copaxone (glatiramer acetate) is known for increasing bdnf. The only way to find out if this will be helpful in humans with Rett Syndrome, is through human clinical trials.

Reverse Rett is supporting an open label study of copaxone in two centres. Each centre is giving copaxone to ten individuals for six months.

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“ I hope more than anything for treatments and a cure in Caylin’s lifetime. My biggest fear is going into her room one morning and her being gone.”

Melise, Caylin’s mum

“ Robyn’s life is one big vicious circle - but we never moan, well hardly ever. My hope is that there will be a cure, but I’m also fearful of what to expect. Rett Syndrome is so complex and my daughter is very complex so I’m scared of curing the Rett Syndrome but being left with all the rest of the complications.”

Nicky, Robyn’s mum

robyn Caylin was diagnosed with Rett Syndrome at the age of 3.

She cannot speak or walk. She can still feed herself finger foods but has had to have a feeding tube placed in order to ensure that she gets adequate nutrition, fluids and the medications that she needs.

Caylin has recently shown sign of seizure activity. At the age of seven, her spine has already started to curve.

Robyn was diagnosed with Rett Syndrome 2 weeks after her 2nd birthday. Now at the age of 13, Robyn is waiting for a tonsillectomy to release the weight on her airways, as her airways are collapsing and she has day and night apneas, where she stops breathing. Her spinal curve is over 80 degrees, but she cannot have spinal surgery until her airways are sorted. Plus her hip is dislocated, but nothing can be done about that until her spine has been fixed. She also has the onset of Long QT, which causes irregularities in her heart rhythm.

caylin

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Sophie was diagnosed with Rett Syndrome out of the blue at the age of 3. Until then, Sophie had developed normally and reached her mile stones such as sitting, standing, running, feeding at the right time.

When Sophie was diagnosed, she could speak and even sing.

Now, Sophie has no spoken language although she is very vocal at times and makes herself heard.

As she gets older and taller, her mobility is changing, affecting her balance and her ability to move purposefully. Her safety now is a big issue as she can open doors climb over gates and would walk off with anyone.

She has no sense of danger or awareness.

Sophie suffers with constant urine and bowel problems as well as severe anxiety. She has recently started to have some suspected seizure activity.

sophie

uk news 2013 As well as supporting international research, it is increasingly important to us at Reverse Rett to ensure that we are doing all we can to make it possible for scientific findings to be translated into treatments for people with Rett Syndrome and related MECP2 disorders in the UK. in 2013, we started working to: • Facilitate an improved understanding of the progression of symptoms of Rett Syndrome over time. This will be essential in order to measure the effects of clinical trials and treatments.

• Raise awareness of Rett Syndrome in the UK medical community, to ensure that the disorder is diagnosed more quickly and that girls with Rett Syndrome receive the best possible treatment and care.

• Develop the capability within the UK medical community to mount clinical trials of possible treatments or cures, potentially via a national centre through which treatment can be delivered.

“ I always have hope; it’s what gets me out of bed. It stops me feeling utterly consumed with grief and guilt of what’s happened to Sophie. I try and stay as focused as I can, keeping a happy loving supportive family home environment for all of us.

Sophie has three other siblings too and we need a sense of normality.

I tell everyone about her as I’m so proud of what a remarkable, funny, intelligent, witty young lady she is. Sophie deserves the best shot at enjoying life to her full potential and without Rett.

I’ll do anything to give her that chance.”

In 2013, with the generous support of the Jomati Foundation, Reverse Rett sponsored and participated in a key conference organised by the British Society of Gene and Cell Therapy and in Rett Syndrome Europe’s third European conference in Maastricht, The Netherlands.

The aim of the British Society for Gene and Cell Therapy is to accelerate scientific progress and promote ethical and efficient transfer of gene- and cell-based technologies from the laboratory into the clinic.

Gene and cell therapy is an area where cooperation between ALL the interested parties - general public,

patients, scientists, government and the media - is vital for the optimal development of these technologies and treatments. Sponsoring and participating in this conference gave us an invaluable opportunity to meet clinicians and researchers with an interest in Rett Syndrome and discuss ways to make progress in the UK. The Rett Syndrome Europe event was an opportunity to bring world-class scientists, researchers and clinicians to present and discuss the progress of Rett research worldwide. There was also a programme of information for parents, carers and therapists, including the latest information on symptom management.

Being one of the sponsoring organisations gave us the opportunity to support international cooperation in the fight against Rett Syndrome.

Jill, Sophie’s mum

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MECP2 duplication fund When Jenny and Paul McMillan's son, Blake was diagnosed with MECP2 Duplication Syndrome at only three weeks old, they were horrified by the grim prognosis presented to them and desperate to do what they could to impact research efforts. They founded The Blake McMillan Trust and reached out to MECP2 related organisations worldwide to see how they might best work together to impact the future for Blake.

changemakers Building a stronger community of parents

It is mostly little boys who are affected by MECP2 Duplication Syndrome. Symptoms are not dissimilar to those we see in Rett Syndrome; developmental delay with absent to minimal speech, hypotonia, ataxia, progressive spasticity especially of the lower limbs and seizures, accompanied also by mild dysmorphic features, autistic features and recurrent infections.

Due to the very small numbers of families affected by the condition, Reverse Rett pledged 100% of every pound raised by these families will be delivered to the MECP2 Duplication Fund at RSRT and subsequently invested in research projects devoted to the study and means of treatment of MECP2 Duplication Syndrome.

what is MECP2 duplication syndrome?

Whilst Rett Syndrome is caused by faults in the MECP2 gene, the duplication syndrome is caused by having an area of the X chromosome (Xq28) which is mistakenly duplicated.

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through the lifeline project we wanted to:

• Reduce parents’ feelings of despair and hopelessness • Tackle their feelings of isolation • Strengthen communities around affected families

how we did this:

• We provided workshops in three locations across the UK-giving parents training and information on a variety of topics from communication to community outreach and the invaluable opportunity to spend time sharing their experiences and make lifelong friendships.

• We established a private online forum specifically for parents who have attended these workshops to enable them to maintain their connection to other like-minded families.

• We gave parents the practical tools they needed to reach out to their communities for support, decreasing isolation, despair and hopelessness-giving them the stamina and encouragement they need to proceed in their role as their child’s best advocate.

In 2013, the MECP2 Duplication Fund at Reverse Rett was established in collaboration with the Blake McMillan Trust to enable UK and European families of children with MECP2 Duplication Syndrome to impact research into this devastating condition which is closely related to Rett Syndrome.

To date, the fund has delivered over £100,000 to international MECP2 Duplication research, supported by a global collective of MECP2 Duplication families worldwide. Support for the fund continues to grow.

All of us at Reverse Rett continue to be inspired by the efforts of this small but mighty group of families who keep bringing in the funds and the fundraisers to speed the science for their children.

At Reverse Rett, we know first-hand, the despair and isolation that this diagnosis can bring.

In 2012-2013, with the kind support of trusts and foundations, we launched Changemakers; a project focused on giving families something to empower them not only to survive the nightmare situation of a Rett diagnosis but to enable them to become a beacon of their community, bringing their community out in support of themselves and their child.

“We are fiercely driven by an overwhelming desire to give our son and all the other children with MECP2 Duplication a better chance in life. The only way to help our children's health is by raising money for research. We are delighted to be working alongside Reverse Rett and all the other MECP2 families in the UK who feel the same way we do.”

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on the back of this work, we also:

• Developed a new resource for families, which answers some of the questions that they have during the difficult period of diagnosis. A digital version of this information is on our website here: www.reverserett. org.uk/what-we-do/rett-syndrome/diagnosis/ • Produced a hard copy action pack including digital files which contains everything parents need to take action to positively impact their child’s future and to reach out to their communities for support.

• Implemented a new parent-to-parent mentoring project to facilitate connection between newly diagnosed and more experienced parents. This project has launched in 2014 with the kind support of Roald Dahl’s Marvellous Children’s Charity.

• Through the Changemakers workshops and the generous support of the Gannochy Trust, the Rayne Foundation and The Big Lottery Fund: Awards for All, a comprehensive action pack for parents was also developed, printed and distributed to more than 500 families across the UK. • The Trustees of Reverse Rett would also like to thank the following trusts and foundations whose support has made this work possible: The Goldsmith’s Company, The Hasluck Charitable Trust, The Margaret Murdoch Charitable Trust, The Liz and Terry Bramall Charitable Trust and the Manchester Guardian Society Charitable Trust.

‘ I am glad to have made connections with the other parents I met at the workshop and to know that I am part of something where I can really make a difference. I gained a lot from just sharing others’ experiences and knowing that others go through the same things and how they cope with it.

I have come away more determined than ever to do what I can to give my daughter a better life and hopefully, a better future too.’

Beth Johnsson, mother to Hannah age 7, London Changemakers workshop, 24th November 2012

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our celebrity supporters

“ Having played Rugby League all my life, I can’t imagine what it must be like to have a body that doesn’t work properly and have to watch from the sidelines which is why I want to do all I can to help girls with Rett Syndrome. Reverse Rett are raising the vital funds that keep the scientists working and I’ll continue doing all I can to help them” Lee Briers, Former Warrington Wolves and Wales Rugby League player, Reverse Rett Ambassador

Reverse Rett was founded by ordinary parents of children with Rett Syndrome who wanted to make a difference to their children’s future. We are privileged to have an amazing group of celebrities who continue to help us grow the impact we are able to have on the speed at which research can be translated into treatment.

On September 11th 2013, Reverse Rett was one of 18 charities in the UK chosen to participate in the BGC Charity Day. The event was set up to commemorate the 658 Cantor Fitzgerald employees killed in the 9/11 attacks. Celebrity ambassadors were shown how to trade stocks and shares, with all profits going to charity. Reverse Rett was represented by Sir Dave Brailsford, Jeff Stelling, Jim White, Natalie Sawyer and Paul Merson.

“Reverse Rett is a brilliant charity run by some very special people who I’m honoured to call my friends. What these parents do for their girls and families who suffer is remarkable, being an ambassador means a great deal to me and it’s a charity that will forever be close to my heart. I will always do what I can to promote Reverse Rett and raise money for the beautiful girls that touch our hearts every day.”

Gareth O’Brien, Warrington Wolves Rugby League player

In September 2012 the first Cure for Dylan Celebrity Dinner & Sports Quiz was hosted by Ed Chamberlin and Vicky Gomersall at Stamford Bridge, where a galaxy of sports stars and TV personalities attended a glittering evening of entertainment in support of Reverse Rett.

A second event in September 2013 once again welcomed some of the biggest names in sport and broadcasting; both events raising in excess of £100,000 to help speed treatment for Rett Syndrome.

“This parent-led charity has a clear and obtainable goal - to find a cure for Rett Syndrome. It is every person’s right to live free from pain, yet for thousands of women and girls who have Rett Syndrome, pain is a daily reality. With no government funding, Reverse Rett is the single most important factor in achieving a cure.”

DJ Yoda

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our amazing fundraisers

Abbie Sadler raised £415 running in a series of races, including the Chester Santa Dash In December 2013.

Thank you to all the many individuals, families, teams and companies who make our work possible. Despite a difficult financial climate, our income increased by 66% allowing us to fund 17 labs focused on delivering treatments and a cure for Rett Syndrome with £1,075,536 of the funds you raised.

Highlights from 2012/13 included the now annual ‘Walk for Estelle’, a four-day walk along the Leeds-Liverpool Canal organised by Alistair and Angela Dickinson in honour of their daughter, Estelle, Team Ciara’s ‘Home to Rome’ cycle ride, the British 10K and Team Reverse Rett’s 5x50 Challenge.

In 2012, Beyond Analysis, an international consumer insight and strategy business, announced Reverse Rett as its Charity of the Year. Working on a pro-bono basis, Beyond Analysis provided ongoing analytical and multifaceted campaign support to help us grow our community of supporters and donations as well as taking part in their own monthly fundraising challenges.

“ We’re extremely proud to be working with Reverse Rett. We chose this particular charity because of its ability to touch so many affected lives. Much like our own rapid growth, within less than eighteen months the charity has grown from a grassroots effort run from one parent’s kitchen table to a national charity with hundreds of fundraisers and supporters. With such passion and enthusiasm for helping suffers of the disease, we want to make sure that we are doing everything we can to help them be even more successful.”

Neil and his wife Gayle were inspired to support Reverse Rett when their daughter, Ciara was diagnosed with Rett Syndrome the day before her 2nd birthday.

Neil has immersed himself in raising as much money for Rett research as possible and has inspired an army of supporters to help him under the umbrella, Team Ciara.

Family members, friends and also complete strangers have rallied around them and helped to raise over £60,000 for Reverse Rett.

In the summer of 2013 Neil and his friend, Sion Owen (ably supported by Colin McLoughlin, John Owen and Lawrence Holland in the support van) rode from Chester to Rome over 14 days. All of Team Ciara are passionate about making a difference for all the girls and women suffering from Rett Syndrome today.

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“ For us, we owe it to Ciara to do everything we can to make the possibility of reversing Rett Syndrome a reality. The only way this can happen is by funding research. This is why we wholeheartedly support Reverse Rett.”

Neil, Ciara’s Dad

Our 3rd and 4th Annual Reverse Rett London events held at the Royal College of Physicians were hosted by Vicky Gomersall and raised in excess of £130,000 in 2012 and 2013 respectively.

Paul Alexander, co-founder and Chief Executive Officer of Beyond Analysis

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Warrington-based international company Flextronics chose Reverse Rett as their Charity of the Year for 2013 and raised over £15,000 for the research projects we support.

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financial summary

Reinvestment in the organisation

£9,347 1%

Direct costs

Day to day running costs Science workshops/conferences

£8,206

Total

£38,405 3%

1%

£1,131,494

Research contributions

£1,075,536 95%

Trusts and Foundatons MECP2 Fund

Income

£37,375 3%

£58,039 4% The Big Give

£184,636 12%

Total

Fundraising and Donations

£1,516,667

£975,664 64%

London Event

£260,953 17%

Research contributions Total Treating symptoms

19%

Expenditure Total

Fundraising

£1,334,662

£125,622 9% Governance

£1,075,536

Bypassing MeCP2

8%

MECP2 Duplication Fund

5%

£77,546 6% Clinical trials

9%

Increasing MeCP2

43% Underlying causes

16% Direct costs

£1,131,494 85%

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aimee

Aimee was diagnosed with Rett Syndrome just before her second birthday.

Now at the age of 6, Aimee can’t walk, or even sit up unaided. Her spine is curving rapidly.

Further problems with her hips and ankles have been recently identified, as have episodes of potential seizure activity which are currently being investigated. Yet this is a little girl who handles everything life throws at her, usually with a cheeky giggle or smile.

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‘My hope is that a treatment or even a cure will be found and that aimee may be able to lead a more independent life, where she may be able to breathe normally, we might be able to chat about her day or even go for a walk.

our people ambassadors

trustees

Lee Briers Karl Morris Gareth O'Brien Charlie Sharpe

Rachael Bloom Thomas Carroll Monica Coenraads Kelly Phillips John Sharpe Helen Simmonds Marc Souter Andy Stevenson

professional advisory board Stuart Cobb David Greatrex Adam Leah Esther Marlow David Moore James Seavers David Thompson

dionne

My fear…that it may come too late.’

Jill, aimee’s mum

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thank you We are hugely grateful for the support of the many generous organisations and individuals who contributed to Reverse Rett in 2012-2013. These included the following companies, individuals and community fundraising groups. Our immense appreciation to you all:

A Walk For Estelle Beyond Analysis BGC Charity Day Broad Gallery Catriona Moore Carmel Clothing Cure For Dylan EMEA Capital EURORDIS Flextronics Genetic Alliance UK Goldman Sachs Gives Guðrún’s Rett Syndrome Research Trust, Iceland Heidi and Jonathan Epstein Hope For Harriet Kate Quigley

ciara

Rare Disease UK Roald Dahl’s Marvellous Children’s Charity Rett Syndrome Research Trust Rett Syndrome Ireland James and Heidi Paradise John and Maureen Sharpe Sky Bet Sophie’s Warriors Symphony Online Team Ciara Team Lilypad The Blake McMillan Trust Total Awareness Coaching Topaz Digital Media Tracey Sadler Vicky Gomersall

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eve

looking ahead In 2014-2015, we will continue to work hard to raise vital research funds to drive the science forward.

Internationally, we will continue to intensively financially support the high quality, cutting-edge research portfolio at RSRT, funding Rett Syndrome research at every level; from basic science to targeted gene therapy, from symptom management, to clinical trials.

On the ground in the UK, we will work to develop improved capability for the consistent and effective clinical management of Rett Syndrome in the UK. We will work to develop the capability within the UK medical community to mount clinical trials and/or pilot studies of new and emerging treatments for Rett Syndrome as and when they become available.

We will expand on our current collaborations and actively seek out more.

In fundraising we will build on our core strengths of strong parent involvement, community outreach and team spirit!

We will increase the number of team challenges and find innovative ways to roll out effective individual fundraising endeavours as charity-wide campaigns.

To compliment this, we will also develop more traditional charitable income streams, such as legacies, trusts and major gifts income.

We will continue to enhance the newly developed parent-to-parent project as a means to enable like-minded families to share resources and support each other with the challenges that a Rett diagnosis can bring.

We will continue to expand our capacity to share accurate and up-to-date Rett related resources and information to families and professionals across the UK. We will work to enhance our capacity to share research related information in a variety of clear and understandable formats.

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To all the scientists around the globe, working towards treatments and a cure for Rett Syndrome, we wish you determination, brilliance and godspeed.

Reverse Rett The Old Parsonage StennerResearch Lane Trust UK Rett Syndrome Didsbury Adamson House, Towers Business Park Manchester Wilmslow Road, Didsbury M20 2RQ Manchester, M20 2YY

Registered Charity number: 1136809 Telephone: 0161 955 4261 Email: enquiries@reverserett.org.uk

reverserett.org.uk

Š Rett Syndrome Research Trust UK. All rights reserved. Rett Syndro me Research Trust UK is registered charity number 113680 9. Company Number: 0727850 7

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