TSA SCAN 17 Autumn 2018

EDITION 117 AUTUMN 2018

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TSA Big Day 2018 COMPANION EDITION Plus: Special features on epilepsy and challenging behaviour #everolimusforepilepsy campaign update | TSA 5-year strategy

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Tuberous Sclerosis Association 04 TSA Update Words from our Chair Martin, and an 'it's good to be back' message from our CEO Louise. Plus an update on our 5-year strategy.

What’s inside Issue 17 Autumn 2018

TSCare & TSCampaign 06 TSC and Epilepsy Eight out of 10 people with TSC will be affected by epilepsy. Here we take an in-depth look at the impact of TSC-related epilepsy and some of the treatments available.

14 Challenging Behaviour In this six page special feature we talk to two people with TSC who explain how TSC can make them feel, and what strategies they use to help them cope.

Plus we have useful insights from a psychologist, a TS parent and a range of other resources you may find helpful when dealing with this issue.

TSCure 20 Research special feature Four pages of research projects being shared at the TSA Big Day.

TSCommunity 24 Regional news The latest in news and useful information from England, Scotland, Wales and Northern Ireland.

28 TS World Conference Clare Kassa reports back from the biggest gathering of TSC experts to date.

29 Clinics News Updates from St George's Clinic in London, the new Newcastle clinic, and the Royal Liverpool University Hospital clinic.

29 Fundraising update Our new Interim Head of Income Generation Mikaela Conlin-Hulme explains our plans for 2019, and shares some opportunities for you to make it your fundraising year too.

32 Thank you Four pages of heartfelt thank yous to our amazing #TeamTSA community fundraisers you can read all about their achievements here.

tuberous-sclerosis.org Opinions expressed in articles do not necessarily express the official policy of the Tuberous Sclerosis Association.

Information correct at time of going to press.

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Tuberous Sclerosis Association is a Company Limited by Guarantee Registered in England and Wales No. 2900107.

English Registered Charity Number. 1039549 Scottish Registered Charity No. SC042780 Registered Office: CAN Mezzanine, 32-36 Loman Street, Southwark, London. SE1 0EH

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Social @UKTSA @TSA_Fundraising facebook.com/thetsauk

W www.tuberous-sclerosis.org youtube.com/TuberousSclerosisAssociation instagram.com/uktsa

in linkedin.com/company/tuberous -sclerosis-association/ Useful contacts Head office CAN Mezzanine, 32-36 Loman Street, Southwark, London SE1 0EH T: 020 7922 7731 E: admin@tuberous-sclerosis.org SCAN Editor and TSA Communications Sarah Roberts T: 07870 210308 E: sarah.roberts@tuberous-sclerosis.org Donations, Fundraising and Events Kathryn Harrison and Tanya Darnton T: 020 7922 7731 E: fundraising@tuberous-sclerosis.org

“to provide help for today and a cure for tomorrow”

Dear SCAN Readers Welcome to this SCAN Autumn 2018, a special companion edition of the magazine designed to accompany our TSA Big Day which takes place on Saturday, 10 November.

While we are looking forward to meeting many of you at the event itself in Sheffield we know that many others of you will not be able to join us on the day.

So we have filled this edition of SCAN with news and features based on the conference agenda to try to bring as much of the event to you as possible, to be read at your convenience. We take a look at TSC and epilepsy, including the latest on our #everolimusforepilepsy campaign, and our advice on cannabinoids. We also take an in-depth look at TSC and challenging behaviour because we know, day-today, this can be one of the toughest aspects of dealing with TSC. We know that research into TSC, treatments and a cure is of huge importance to you all.

So we are pleased to be able to bring you summaries of much of the fantastic research which will be presented at our TSA Big Day. And, as ever, you can read longer, more detailed versions of many of the articles features in SCAN, on our website.

So thanks for reading and please let us know if you would like us to cover anything in particular in future editions of SCAN. Sarah Roberts Editor

TSA SCAN

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A virtual hug for every reader I’m writing this introduction in the run-up to the TSA’s annual Big Day which takes place on Saturday 10 November at Sheffield Hallam University. It’s always an inspirational event, and I can’t wait to catch up with old friends and see new faces there.

However, the TSA is conscious that not everyone can take the time to come along or afford to spend money that is tight travelling to events. So this edition of SCAN aims to bring the Big Day to you! I hope that you enjoy getting a flavour of the presentations, workshops and networking that will take place. The Big Day often feels like a big hug, so I’m keeping my fingers crossed that vital information and a virtual hug will reach each and every reader through these pages.

And talking of reaching out, you can find details of the TSA’s new 5 year strategy on page 5. We’re excited about our ambition to reach as many people living with TSC as possible and drive more research into the condition. Keep your eyes peeled over the coming months for further information about how our 5 year strategy will make life better for people with TSC and their families and carers.

With my best wishes, Martin Short, TSA Chairman

Great to be back!

I’m delighted to be back from maternity leave and looking forward to seeing our TS community, trustees, staff, clinicians and researchers at the Big Day in Sheffield.

We’re meeting in the shadow of the decision by NHS England not to fund everolimus for TSC-related epilepsy for people living in England, and ahead of their review of this decision in November.

I’d like to thank everyone who has supported the TSA’s Ready, Steady, Write campaign to make sure NHS England listens to the evidence from patients and their families and funds everolimus for TSC-related epilepsy in future.

And if you haven’t already added your voice to the campaign, then please take a look at page 8 for details of how you can support us by signing the TSA’s petition, talking about the campaign on Facebook, Twitter, Instagram and LinkedIn and writing to your local MP, and raising awareness with your local newspaper.

The louder the voice of patients and families, the more likely it is that we can make NHS England think again.

Together, we can do it.

Thank you for your support, Louise Fish TSA Chief Executive

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A new direction for the TSA:

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year strategy 2019-2023

The TSA has been supporting people and funding ground-breaking research into TSC for over 40 years.

But we can do more to improve the lives of people living with the condition.

We listened to people affected by TSC, their families and carers, and the professionals who support them including clinicians and scientists.

Thank you to everyone who took the time to share their feedback and make sure we understand what our community needs from us.

The TSA Board has signed off a fresh strategy which expresses our vision, aims and objectives for the years ahead.

In parallel with finalising the 5 year strategy, we have looked at how we can fund and deliver these priorities. After a number of years of running deficit budgets, we will balance the books and secure the long term future of the organisation. And as times change and technology develops, we will adopt different methods to reach new and existing audiences and work more effectively so we can sustain our support for the TSA community.

“to provide help for today and a cure for tomorrow” Our vision is a world where TSC and its effects are conquered.

Our mission is to provide help for today and a cure for tomorrow.

Our aims are to: • Make a positive impact on the health and wellbeing of people living with TSC and their families and carers.

• Lead research into tools, technologies and treatments which eliminate the effects of TSC.

• Lead innovation in the integration of medical and social care services.

Our objectives are to: 1 Provide access to good quality, accessible and timely information.

2 Provide the opportunity for people with TSC to connect, support and learn together.

3 Build the knowledge and expertise of professionals working with people with TSC. 4 Drive the research agenda with the aim of improving outcomes and quality of life for people living with TSC. 5 Expand our understanding of the condition to speed up diagnosis, intervention and development of new treatments.

6 Disseminate and use evidence to influence policy and practice.

7 Campaign for better access to treatments and care.

8 Support the development of centres of excellence.

We look forward to sharing more details about how we will REACH more people and drive more REseArCH at the TSA Big Day!

9 Pilot and then roll out innovative approaches to whole person, family and carer support.

TSA SCAN

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TSCare TSA Big Day Epilepsy Special

TSC and epilepsy In this eight page special we take an in-depth look at epilepsy and TSC, its impact, support strategies, research into TSC and epilepsy and where to seek further information.

One of the most common features of TSC is epilepsy, which aects eight out of ten people with the condition.

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Epilepsy can cause a number of symptoms including loss of awareness, stiening of the body and temporary confusion.

More than half of people with TSCrelated epilepsy will not respond to standard anti-epilepsy treatments, creating a significant unmet medical need.

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TSA Big Day Epilepsy Special TSCare

What is TSC-related epilepsy?

Consultant paediatric neurologist Dr Sam Amin explains epilepsy and TSC. The central nervous system is commonly involved in TSC. Epileptic seizures are a common presenting problem. Most people with TSC present with seizures during infancy, typically between three and eight months old. Epileptic spasms can lead to severe developmental disabilities. Unfortunately, they are commonly misdiagnosed initially in infants. In addition to epileptic spasms, all types of seizures can be observed in people with TSC including tonic, clonic, tonic-clonic, atonic, myoclonic, simple partial, complex partial and atypical absence. Management of epilepsy in individuals with TSC has not been dissimilar to that of epilepsy due other causes. Antiepileptic drugs have been the main treatment option.

Vigabatrin has been the drug of choice for infantile epileptic spasms.

Studies have shown that mTOR inhibitors such as everolimus and rapamycin are effective in TSC. A recently published trial has shown that everolimus, when used as an additional therapy, significantly reduced treatment-resistant focal seizures in individuals with TSC compared with a placebo sugar pill.

NHS England recognises that there is sufficient evidence to support funding of this drug in TSC and epilepsy. However, NHS England decided not to fund everolimus during its Spring 2018 funding round due to other priorities. There will be another prioritisation round in November 2018, and this decision will be reviewed then. In collaboration with the TSA, clinicians are working hard to ensure that the review considers all the relevant evidence.

Dr Sam Amin Sam is a consultant paediatric neurologist and jointly leads the regional complex movement disorder service in University Hospitals Bristol NHS Foundation Trust. Sam also leads the neuromuscular service in University Hospital of Wales, Cardiff. He is a professional adviser for the TSA and CDKL5-UK, an honorary research associate at the supra regional TSC clinic at Royal United Hospital Bath, and an honorary lecturer at the University of Bristol.

Stop press! Stop press! Stop press! Stop press!

First UK clinical guidelines on TSC now published.

Dr Sam Amin has led a group of clinicians who have developed UK clinical guidelines on the management and surveillance of TSC. The guidelines, which have been published by Oxford University Press in QJM: An International Journal of Medicine, provide evidence-based recommendations for delivering the best clinical care for people living with TSC in the UK. The TSA is planning to publish a patient-friendly version of the clinical guideline in the next edition of SCAN magazine, in early 2019.

TSA Chief Executive Louise Fish says: "I'd like to thank the clinicians whose commitment and leadership has led to the publication of these guidelines. Their work will make a huge difference in improving the quality of care provided to people living with TSC and their families.”

TSA SCAN

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TSCampaign

TSA Big Day Epilepsy Special

TSA everolimus campaign What is happening?

TSA campaign to make sure everolimus for TSC-related epilepsy is funded in England

In March 2018, NHS England recognised that there is sufficient evidence to commission everolimus for TSC-related refractory epilepsy. This decision could benefit up to 1,300 people living with TSC in England. NHS Scotland has already decided to fund everolimus for TSC-related refractory epilepsy for people living in Scotland.

Why does it matter?

However, in July 2018 NHS England announced that it had decided not to fund this treatment after considering other relative priorities and the budget available for specialised commissioning in 2018-2019.

• 14 out of 15 people reported significant

The TSA believes this decision is flawed because NHS England did not fully consider the evidence provided by patients and their families. We are urging NHS England to listen to the evidence and fund everolimus for TSC-related refractory epilepsy in the future.

How you can help 1. Sign our petition goo.gl/nNMcYi 2. Write to your local MP. 3. Send a press release to your local paper.

4. Talk about the campaign on Facebook or Twitter.

Everything you need to help you to do all of these things is on www.tuberous-sclerosis.org/ready-steady-write

Everolimus doesn’t work for everyone, but it can be life-changing for people with TSC-related refractory epilepsy.

When the TSA spoke to 15 people who had experience of taking the drug: improvements to their epilepsy and quality of life as a result of taking everolimus.

• 3 out of 15 people reported that they had had no seizures since taking everolimus.

• 5 out of 15 people reported that the treatment was ‘life-changing’.

Everolimus can also be life-saving for people with TSC-related refractory epilepsy because it reduces the risk of sudden death from epilepsy (SUDEP).

What will happen next?

NHS England will reconsider its decision not to fund everolimus for TSC-related epilepsy in November 2018, when planning its budget for 2019-2020. We expect NHS England to announce its decision in December 2018.

The louder the voices of patients, carers, clinicians and researchers, the more likely it is that we can make NHS England think again. Thank you for your support.

Ready… steady…write Eight out of ten people with TSC have epilepsy, and more than 50 per cent of people with TSC who have epilepsy will not respond to standard anti-epilepsy treatments (refractory epilepsy).

Epilepsy is generally more difficult to control for individuals living with TSC who have moderate or severe learning disabilities.

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TSA Big Day Epilepsy Special

TSC mum Philippa Ward explains why she has been talking to the media about #everolimusforepilepsy

TSCampaign

“Thomas used to have eight seizures a day but now it is two a week since starting on a drug trial for everolimus for epilepsy.

“And his seizures have also become more predictable, which really helps. Also his development has come on so much, his personality is really showing through, he’s got amazing relationships with people at school, his family and his friends, and he’s just such a lovely boy to be with. I put a lot of that down to the drug. NHS England has decided not to fund everolimus for people like Thomas. It said it wasn’t proved to be effective enough to provide value for money. It’s really sad. The NHS doesn’t have infinite resources, everybody knows that, but this is a small community of people and it this is a drug that’s potentially life-saving, and definitely life-changing.”

Cannabis products and epilepsy The summer months of 2018 saw much media attention and some governmental action in relation to the use of cannabis products for the treatment of epilepsy.

There is a growing evidence base for the use on cannabidiol (CBD) for controlling epilepsy in conditions such as Dravet Syndrome and Lennox-Gastaut Syndrome and we await results from international trials for CBD in TSC-related epilepsy.

The TSA have published two online position statements on cannabis use in epilepsy and these can be accessed at: goo.gl/iLxCZs and goo.gl/FuZWmr We continue to encourage people to speak to their TSC doctor if they have any concerns about any medication.

What we have done so far.

• We have launched the Ready, Steady, Write campaign

• Our campaign email reached 1,633 people • Our petition on change.org has more than 5,000 signatures

• 28 people have let us know that they have written to their MP

• TSA Chief Executive has written to 102 MPs • The campaign has been covered on Channel 5 news,

BBC South East news, five regional radio stations and in seven regional newspapers

• We have contacted the Secretary of State for Health Matt Hancock, the relevant Health Minister Lord O’Shaughnessy, and John Stewart, Director for Specialised Services at NHS England

• TSA Chief Executive Louise Fish will be meeting Labour's shadow health minister Julie Cooper MP in October. Louise will also be meeting with Liberal Democrat health spokesperson Norman Lamb in November.

TSA SCAN

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TSCare TSA Big Day Epilepsy Special

Support Dogs and epilepsy Specially trained dogs are now working with people with epilepsy to help keep them safe.

Here Jane Tadman from charity Support Dogs explains all.

Thirty per cent of people with epilepsy are unable to control their seizures through medication. Instead they live with the fear of an oncoming seizure which can occur at any time. This fear affects everything they do, limiting their independence and ability to live an active life.

The benefits of a seizure alert dog can be enormous, and for the past 20 years, national charity Support Dogs has been training dogs for people with epilepsy to provide a 100% reliable warning up to 50 minutes prior to an oncoming seizure.

Around 1, 000 people with epilepsy die each year and research suggests that most of these deaths are sudden and unexpected. The warning provided by a seizure alert dog means that a person with epilepsy can remove themselves from any danger and have a seizure in a safe, private environment.

With the confidence that they will be alerted in advance of any seizure, Support Dogs users are able to live more independently. Day-to-day tasks, including going to the shops, cooking, ironing and having a bath, which would previously have been hazardous, are now manageable on their own and in safety.

Support Dogs is the only organisation in the UK to provide and train seizure alert dogs.

In theory almost any breed has the capacity to be a seizure alert dog; in practice most of the dogs selected for the seizure alert programme are Labradors, Labrador Retrievers, or Labrador or Retriever crosses.

However, rather than the breed it’s the dog’s nature that is most important when selecting a dog for the seizure alert programme.

As well as training dogs to work with people with epilepsy, Support Dogs also trains dogs to work with children with autism and people with a physical disability, so each dog is chosen to work with a particular client based on its specific qualities and suitability.

If you are interested in applying for a seizure alert dog, the eligibility criteria and registration form to attend an information day at Support Dogs’national training centre in Sheffield can be accessed here: supportdogs.rit.org.uk/forms/seizure-alert-programme-registration For more information go to www.supportdogs.org.uk

TSA funded research into epilepsy Most recently the TSA funded a piece of research undertaken by Professor Ype Elgersma and colleagues at the Erasmus Medical Centre in Rotterdam, The Netherlands: Towards a better understanding and better treatment of TSC-related epilepsy goo.gl/cbZfsv Professor Elgersma’s lab-based research considered the mechanisms involved in developing epilepsy. His team had developed a unique mouse model whereby they could distinguish between the changes that cause epilepsy and those that are a consequence of it. They went onto test anti-epileptic drugs and other compounds such as everolimus to see which might Prof Ype Elgersma be most effective in tackling TSC before or after the development of epilepsy.

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TSA Big Day Epilepsy Special TSCare

‘I would be lost without Ushka’

“My first support dog was Juno back in 1999, after my social worker introduced me to Support Dogs. My epilepsy had started at the age of 11 as the result of a brain tumour, and despite successful surgery, my seizures continued as I grew up, making normal life difficult.

Angie and Ushka

Specially trained dogs can help people with epilepsy to stay safe

“Juno was the special one because she was my first support dog, and she was the one who started making a big difference, giving me the confidence to go out alone. When Juno retired there was Venus, who was a vital part of my life while I was pregnant.

“I’ve now built up a partnership with Ushka to match that of Venus and Juno.

“I’ve had Ushka at home for more than a year now and feel very comfortable with her. She’s quite a sensitive dog and she likes to be with me all the time. Her favourite thing is to lie with you in front of the fire. She is with me all the time and has her own bed in my bedroom.

“Like Venus before her, Ushka gives me a 40-minute alert of an oncoming seizure, nudging me with her nose, and if I don’t respond straight away Ushka will jump up and make sure I know.

“We now go out walking a couple of times a day in the countryside, and the children love her.

“I would be lost without Ushka. I have that bond with her that I had with my previous dogs. I wouldn’t have a life if I didn’t have the dogs, I would just be stuck at home all day. They have made my life normal, and that’s all because of Support Dogs.”

Correction and clarification On page 11 of the summer edition 2018 of SCAN, and in conjunction with an article entitled‘The Science Behind Sleep’we incorrectly captioned a photo of the article’s author Professor Paul Gringras, pictured right, as Professor Deb Paul. We sincerely apologise to both of them for any inconvenience caused, and we look forward to working with Professor Gringras again in future editions of SCAN. TSA SCAN

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TSCare TSA Big Day Epilepsy Special

An App which can make managing epilepsy easier TSC parent Robert Moss, the man behind Seizure Tracker™, explains how it came about and how it works.

When we became parents we never expected to be dealing with a chronic health issue.

When Evan was born, we were thrilled to have a second child and enjoyed watching our daughter Aria meet him for the first time. Evan was perfectly healthy and we went home to adjust to life with a new baby in the house.

Robert Moss and family

Evan began having seizures before he was a month old and we later learned that the cause of his seizures, and many more medical issues yet to come, was tuberous sclerosis complex (TSC) Keeping track of all the seizures and medications became a daunting task. So we began working on a website to organize all this information spending many late nights at the computer. We realized Seizure Tracker could be helpful to other families dealing with epilepsy and began to broaden our scope to make the site more comprehensive.

What is Seizure Tracker™?

Seizure Tracker™ is a free app which provides people living with seizures a set of tools to collect seizure event and therapy information and easily share that data with their care team.

It offers a detailed web and mobile seizure diary along with an extensive reporting system.

How to get Seizure Tracker™ You can learn more and join the Seizure Tracker™ community by visiting www.SeizureTracker.com and setting up a free account. The Seizure Tracker™ mobile apps can be found on iTunes and Google play. Look for the red“track it”icon.

For more information about Seizure Tracker, Robert and Evan Moss, go to www.tuberous-sclerosis.org/blog 12

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With a single press of a button, mobile app users can time and videotape a seizure as it happens. You can also use the app to record rescue medication administrations and vagus nerve stimulator (VNS) magnet swipes while the seizure is happening.

Seizure Tracker™ also allows users to collect other data that could be associated with seizure activity. Additional diary tools include: medication, rescue medication administration, diet therapy, VNS activity (settings and magnet swipes), hormonal fluctuations and more.

You can then generate reports using Seizure Tracker™ and use them when meeting your medical care team. Reports can be customized to outline any talking points, questions and concerns. Reports created on the partner website www.seizuretracker.com include graphs which visualize seizure activity against therapies. These can be printed or emailed directly from the website.

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TSA Big Day Epilepsy Special TSCare

Update on sodium valproate Over the last couple of years, we have kept you updated on the situation with regard to Sodium Valproate, particularly around the risks of significant birth defects and developmental disorders in pregnancies exposed to the drug.

In April 2018, the Medicines and Healthcare Regulatory Agency (MRHA) changed regulations associated with the prescribing of Sodium Valproate to introduce further safety measures. Women and girls of childbearing age must only be prescribed Sodium Valproate if they are on a on a pregnancy prevention programme (sometimes called a PPP).

This will mean GPs or epilepsy specialists must: • Discuss appropriate methods of contraception to avoid unplanned pregnancies.

Women and girls of childbearing age taking sodium valproate, or their parent or guardian, should discuss this issue with their epilepsy specialist or GP.

Other epilepsy organisations

• Seek regular pregnancy testing to make sure patients are not pregnant.

• Hold annual reviews to ensure epilepsy medication reviews and to consider specific risks for individual patients. This includes both the patient and the doctor signing a form documenting this review and an acknowledgement of risks.

www.epilepsy.org.uk 0808 800 5050

The Epilepsy Society has produced a useful summary of this position: goo.gl/aeWpHp More recently, a number of doctors have written to the MHRA highlighting the exceptional circumstances around prescribing Sodium Valproate and the use of a PPP. They recognise there may be situations where it is in the best interests of those concerned to continue use of the drug without a PPP, although they recognise the importance of acknowledging and documenting the risks on an individual patient basis.

www.epilepsysociety.org.uk 01494 601300

www.epilepsyresearch.org.uk 020 8747 5024

Any patients on Sodium Valproate are advised to seek advice and regular review with their prescribing doctor.

You should never stop taking any epilepsy medication without advice from your doctor, even in pregnancy.

For further support on you can always contact your local TSA Adviser (contact details on the back page of SCAN).

www.youngepilepsy.org.uk 01342 831342

TSA SCAN

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TSCare TSA Big Day Challenging Behaviour Special

Challenging behaviour and TSC We know that the impact of TSC - related behaviours is often the most diďŹƒcult day-to-day issue for people with TSC, carers and families to cope with.

In this six page special feature two people tell us how having TSC makes them feel and how they cope with diďŹƒculties with their own behaviour when they arise. Plus we have expert advice from a psychologist and a TSC parent, plus a useful behaviour chart and where to seek further help.

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TSA Big Day Challenging Behaviour Special TSCare

Making sense of challenging behaviour

Challenging behaviour

Dr Jane Waite of Aston University looks at different ways to address challenging behaviour in people with TSC. Behaviours that challenge such as self-injury, aggression and breaking things have been reported to occur in at least a third of individuals with TSC, and can persist over a period of time. Despite this, behaviours that challenge are not inevitable in TSC. There are several things that should be considered when trying to make sense of these behaviours.

Is your child/person you support in pain?

When a person is in pain challenging behaviour will often‘come out of the blue’and will be present in lots of different situations. It may also be difficult to console the person or stop the behaviour. Help with identifying pain can be found in the Cerebra Pain Guide tinyurl.com/yarbtrs7

Does your child have an effective communication system?

Focusing on communication can be key when trying to reduce behaviours. Does the person with TSC have a way of letting you know when they want something to stop or when they need or want their favourite things (including you)?

Can you identify a pattern?

Challenging behaviours are often communicating important things about the person with TSC and their world. It can be helpful to keep a detailed record about the behaviour, including what was happening just before the behaviour began and how other people responded immediately afterwards. Keeping a record can give clues about why behaviour occurs and can help identify different ways to respond.

Bringing it all together.

If your child is showing behaviours that challenge it is important to try to obtain a referral to a local specialist who can help to make sense of the information you collect as well as specific information about TSC. For example, it may be important to share that impulsivity has been associated with behaviours that challenge in TSC, as well as the things noted above. Your GP will often be able to signpost you to this specialist, who may be a clinical psychologist, member of a behavioural support team or a behavioural nurse.

Dr Jane Waite joined Aston University as a lecturer in 2017, after four years as a research fellow and clinical psychologist at the Cerebra Centre for Neurodevelopmental Disorders. Jane’s research focuses on understanding the development of behavioural and mental health difficulties, and improving the identification of these difficulties, in people with intellectual disabilities and neurodevelopmental disorders.

Read a full version of this interview at www.tuberous-sclerosis.org/blog TSA SCAN

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TSCare TSA Big Day Challenging Behaviour Special

"I can be happy and then sad too quickly"

Challenging behaviour

Charlie lives with his mum Carolyn.

He’s 20 and having TSC leaves him with acute anxiety when faced with talking to strangers on the phone or by email. Despite this Charlie was keen to share how TSC affects his behaviour with SCAN readers and answered our questions with the help of his mum, Carolyn.

“Having TSC changes my feelings and emotions quite regularly, which is quite tiring. I can be happy and then sad quickly. When I’m happy it’s like being too excited and then when I’m sad it’s like being low about myself. I feel like I’m not good at doing things. I feel unsure about doing things and I over think things and then don’t want to do them. It’s frustrating.

Charlie with mum, Carolyn

“I think I can remember some facts better such as dates but I don’t think TSC is a positive thing to have. It makes feelings and thoughts worse. You have to do everything precisely and exact or things get overwhelming and hard to control.”

We asked Charlie what he does to help overcome these challenges.

“I play games on my mobile, they’re offline so I don’t have time pressure to complete them. I play games that are easy like 7 - 12 years in age group or teenage. I have the Headspace App and I listen to music a lot, exercise helps too.”

We asked Charlie what he would say to parents and carers of people with TSC about helping a person to deal with difficult emotions.

“I think they’ve got to have quite a good understanding of TSC to be able to help. I think they should leave us alone and not put any type of pressure on or it gets worse. They should work around what the TSC adult’s needs are.”

Challenging Behaviour Foundation.

The Challenging Behaviour Foundation (CBF) supports people with severe learning disabilities and behaviour that challenges. Its vision is for children, young people and adults with severe learning disabilities who display challenging behaviour to have the same life opportunities as everyone else, and with the right support, to live full and active lives in their community.

Go to www.challengingbehaviour.org.uk Email info@thecbf.org.uk, or call 01634 838739. CBF’s Family Support Team can be contacted at support@thecbf.org.uk, or 0300 666 0126, during office hours.

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TSA Big Day Challenging Behaviour Special TSCare

“I don’t always have the energy that I’d like to have”

Challenging behaviour

Father-of-two Jason was not diagnosed with TSC until he was 28 years old.

Now 31, married and working full time, Jason tells us how having TSC makes him feel.

“I was 28 when I was diagnosed with TSC. Previously I had had no medical problems and it came totally out of the blue, although looking back I did have a few unexplained white patches on my skin as a child.

Jason and Annie pre-diagnosis “I was driving coaches for a living, working up to 60 hours a week, when I started to get headaches. They became so bad that I went to Accident and Emergency one lunch break, and within 24 hours I was being operated on to remove a mass in my brain the size of a tennis ball just above my right ear. I had one child aged 3 and another on the way. It was a huge shock and a so much to take in. It was a very frightening time.

“After the surgery, which resulted in most, not all, of the mass being removed, I had my first seizure. And it wasn’t until some weeks later that I was told that the mass was benign and TSC was diagnosed. It was a relief, of sorts, although it brings with it its own challenges.

“I am on everolimus to slow any regrowth of the tumour in my brain. It works very well, and I had my last seizure in February 2016. It does affect my behaviour though as I am constantly tired and I often have mouth ulcers. I deal with this by trying to look after myself as much as possible, and I have a very understanding boss who lets me work from home when I need to (I am now an environmental consultant). My wife, Annie, does so much for me. I don’t know what I would do without her.

“Two small children are hard work anyway and having TSC means that I don’t always have the energy and the patience that I would like to have.

Jason with wife Annie and children today

“I also think that I sometimes have a lack of empathy. I don’t always recognise when someone else is feeling something. Put it this way, I am becoming better at apologising, which perhaps is no bad thing for a guy!”

Read a full version of this interview at www.tuberous-sclerosis.org/blog TSA SCAN

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TSCare TSA Big Day Challenging Behaviour Special

Charting behaviours can help change

Challenging behaviour

An ABC behaviour chart is a useful tool in helping to monitor challenging behaviour.

Behaviour charts can be a useful way of mapping behaviours, particularly those that happen regularly, to try to understand if there are any patterns or triggers to the behaviour. ABC stands for Antecedents (or what happened just before the behaviour) Behaviour (how did it show itself,

tantrum, screaming, lashing out) and Consequence (or what happened just after the behaviour). See the example below. Keeping a record over several days or weeks, and sharing this with school, college, clinicians or social care staff, may be helpful to look at what function the behaviour has.

ABC BEHAVIOUR CHART Day, date and time

Antecedent

Behaviour

Consequence

Notes

TSA funded research into challenging behaviour The TSA has funded research in challenging behaviour for some time. It has a long standing relationship with The Cerebra Centre for Neurodevelopmental Disorders at the University of Birmingham which focuses on the problems experienced by children and adults who have intellectual disability, autism spectrum disorders and genetic syndromes associated with developmental delay.

Research Fellow Dr Lucy Wilde has recently moved to the Open University, where she intends to carry on her interest in TSC research. Whilst at the Cerebra Centre she was funded by the TSA to undertake two pieces of research:

• Delineating impulsive behaviour in Tuberous Sclerosis Complex goo.gl/cN9q8c • Challenging behaviour and Autism Spectrum Disorder in Tuberous Sclerosis Complex: From research to practice goo.gl/h2t2Jz Dr Stacey Bissell has recently completed her TSA funded PhD and will be talking at the TSA Big Day: • Problem behaviours in Tuberous Sclerosis Complex (see page 23) goo.gl/BdW8Js

Dr Stacey Bissell 18

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TSA Big Day Challenging Behaviour Special TSCare

Managing challenging behaviour

Challenging behaviour

Carole Hagan, a parent of a 28-year-old daughter with challenging TSC and autism, shares strategies from what she has learned both as a parent and from a long career in education.

Everyone is different and what might work for one might not work for another. If autism is involved then my advice is 'Go with the flow!' However bad things are - it will get better! Sometimes I have felt that I am on my knees then suddenly the behaviour has disappeared! These are some of the techniques I have found to work.

• Try to avoid being confrontational, stay the adult, stay calm and in control. Avoid raising your voice if you can. Move the person out of harm's way.

• Ask yourself if this could this be the period before a seizure? The Prodrome? You might need to put care strategies in place.

• Sometimes our behaviour can trigger theirs – identifying this might help resolve the problem.

For example, my daughter resents me looking at my mobile phone.

• Change the environment, if possible.

• Change the carer/adult, if possible.

• Sometimes behaviours are a result of bad habits, which can creep up on us and before we know it our person someone always expects, for example, a treat if they go shopping!

• Try to get into the habit of reframing - in simple terms this means instead of saying“don't run”try saying“please walk.”Instead of saying“stop shouting”, try saying“find your quiet voice.” Instead of saying“stop hitting me”, try saying“give me a hug.”

• Redirection can help – instead of saying“No, don’t do that.”try“Let’s feed the dog.”

Carole Hagan

• Try not to bear a grudge. Always be positive and move on. Praise someone when they are showing good behaviours. Bribery and corruption works well here - whoops, I mean rewards for good behaviour such as a sticker, a sweet or pocket money.

• Instead of putting your loved one into Time Out, give yourself a Time Out! Walk away, and take away their audience.

• Look after yourself. It’s not just a glib phrase, you need to develop coping strategies so you can stay strong and positive.

• Don’t be afraid to ask for help. We all need it sometimes.

There are lots of things you can do to help deal with difficult emotions

• Distraction techniques can work, for example, if the person someone is upset and shouting – put an ice cube into their hand!

Read a full version of this interview at www.tuberous-sclerosis.org/blog TSA SCAN

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TSCure TSA Big Day Research Special

Many exciting things happening in TSC research Here Head of Research Alison Cooper provides an overview of research into TSC shared at the TSA Big Day. TSC research features heavily in this year’s event with a range of presentations and a number of academic posters on display throughout the day. The day will also include an update from Dr Chris Kingswood, the TSA’s Head of Research Strategy.

Many people who have come to previous conferences have said that the highlight of their TSA Big Day is hearing Dr Chris Kingswood speak because, as a doctor, a researcher, a TSA trustee and the father of an adult daughter with TSC, he is able to provide a unique perspective.

Alison Cooper

So here is a brief summary of what Chris has told us he plans to cover including updates on international TSC research and developments around the UK network of TSC clinics.

It is a pivotal time for UK TSC clinics and the TSA will work to support them all we can.

Over the past year we have seen existing clinics go from strength to strength and in the coming months we look forward to seeing new ones open, including one at Evelina Children’s Hospital in London. Clinics play a huge part in providing and developing best practice for our TSC community. Planned developments such as the TSC Clinical Registry are dependent on the support and contribution of the professionals working in TSC clinics. And if the TSA’s campaign on everolimus for epilepsy in England is successful TSC clinics will be at the forefront of prescribing this drug for TSC patients.

Dr Chris Kingswood

In our next edition of SCAN you will find a full feature on Chris’s TSA Big Day 2018 presentation.

There are many exciting things happening in TSC research: • Lab based researchers are continuing to uncover new compounds that have the potential to be the next TSC drug.

• Trials in America are now running that are looking at treating TSC in early infancy.

• International trials are now investigating cannabinoids for TSC related epilepsy.

• We continue to learn more about TAND (TSC associated Neuropsychiatric Disorders).

• The evidence base on the effectiveness of everolimus as a holistic treatment for TSC continues to grow.

Other work presented during the day represents both the huge financial investment the TSA has made in research, made possible by the hard work of its fundraisers, as well as its ongoing collaboration with research partners. The work being presented spans the whole range of the research process including lab-based science, behavioural and observational research and qualitative interviews. And on the next three pages we bring you a taster of what's going on.

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TSA Big Day Research Special TSCure

Research on show at the TSA Big Day 2018 Discovering why tumours form in TSC and how do we improve therapies?

The last 20 years has seen huge scientific advances in our understanding of TSC which successfully lead to our current therapies using rapamycin (mTOR) inhibitors.

This success story was because of the finding that the TSC2 protein had a Dr Andy Tee ‘tumour suppressor’property to inhibit mTOR in cells, which is often mutated in TSC patients. While mTOR inhibitors are successful at controlling tumour growth, the tumours do not go away with treatment, which means that patients with TSC will be taking mTOR inhibitors for extended periods of time (maybe for the rest of their lives).

We now have striking new evidence that the TSC2 protein has a second property to repress tumour growth and we are working with new drugs currently in clinical trials which look promising for the treatment of TSC. We are closely working with our international academic and industrial partners with the overall goal to combine our new therapy with mTOR inhibitors to give TS patients a longer lasting and more effective therapy.

By Dr Andy Tee, Cardiff University School of Medicine.

A better scientific understanding of TSC for better treatments.

One problem with rapamycin is that tumours can re-grow if treatment is stopped.

My presentation looks at where we have tested other drugs based on our knowledge of the molecular weaknesses of TS cells, to see if we can not only halt the growth of the TS cells, but also prevent them from re-growing.

Dr Elaine Dunlop My new work encompasses the wider body influences on TS cells. This includes the study of how TS cells move through the body to reach the lungs to cause LAM and what types of drugs could block this. I’m also studying the local environment of TS cells to better understand how TS cells and normal body cells communicate and whether this helps cyst and tumour growth. By increasing our scientific knowledge through these lab-based studies, we aim to bring new, effective treatments closer to the clinic.

By Dr Elaine Dunlop, Cardiff University School of Medicine.

2018 Research Award Round Both Dr Tee and Dr Dunlop have been recently been funded by the TSA in our 2018 research award round.

Go to www.tuberous-sclerosis.org/tsa_funded_research We also undertook short interviews with them both to find out more about their work and their research careers which you can also find on our website.

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TSCure TSA Big Day Research Special

Research on show at the TSA Big Day 2018 Recent findings from the Tuberous Sclerosis 2000 Study The TS 2000 Study is a long-term investigation of a cohort of 125 children with TSC who were recruited between 2001 and 2005 across the UK. The project aims to characterise early development in TSC and how the features of TSC develop and change during childhood and into adulthood.

In addition to collecting medical and physical information and conducting genetic testing, we carried out detailed evaluations of IQ, and tailored assessments for autism and ADHD. In the latest phase of the study we are collecting brain imaging data using electroencephalography (EEG) and magnetic resonance imaging (MRI) to further explore atypical brain structure and function.

Prof Patrick Bolton

By Professor Patrick Bolton and Dr Charlotte Tye.

Early Development in Tuberous Sclerosis: Initial findings from the EDiTS Study While the first two years of life are known to be important for understanding later behaviour in TSC, little is known about TSC in infancy.

The Early Development in Tuberous Sclerosis (EDiTS) Study team has been following infants with TSC from as young as 3 months of age through to toddlerhood, using a range of assessments to chart development and behaviour that can be administered in the home.

Dr Charlotte Tye

This presentation is about preliminary findings highlighting the role of epilepsy in development in the early years and the interaction between sleep diďŹƒculties, epilepsy and behaviour. In addition, we will show the utility of more objective measures of social processing, using innovative portable eyetracking technology.

The ultimate aim of this research is to identify developmental features that might predict later behaviour, so that eective interventions can be targeted from early in life.

By Professor Patrick Bolton and Dr Charlotte Tye.

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TSA Big Day Research Special TSCure

“We’ve made the best of it.

But we do not have a normal life.”

Our study is titled“We’ve made the best of it. But we do not have a normal life”: Families’ experiences of Tuberous Sclerosis Complex and Seizure Management.

Dr Jill Cadwgan

Many people with TSC have epilepsy – a condition that affects the brain and causes frequent seizures. We interviewed 13 families affected by TSC about their experiences with seizures and treatments. All families had used the medicine everolimus. Families described the way they constantly supervised the person with TSC, even as they entered adulthood. This was because families worried about seizures. Families also had difficulty accessing support. Sometimes parents felt like health professionals did not hear their concerns about their child. Families felt happy and hopeful when seizures were controlled. Fewer or more predictable seizures greatly improved families’quality of life.

Support should be provided in a way that suits individual families. This includes medical treatment as well as other types of care, such as access to respite activities. We hope to do more research about TSC to help create and improve specialist clinics.

By Dr Jill Cadwgan, Evelina London Children’s Hospital, Dr Aoife McDonald, Evelina London Children’s Hospital and Dr Jane Goodwin, Newcastle University.

Problem behaviours in TSC My presentation outlines findings from behavioural research which took place between 2015 and 2017, as part of the TSA co-funded PhD project conducted by Stacey Bissell (under the supervision of Dr Lucy Wilde and Prof Chris Oliver).

The aim of this project was to better understand the profile of ‘challenging behaviours’(for example, self-injury, aggression, overactivity, impulsivity) in children with TSC, with a particular focus on toddlerhood and early childhood.

Dr Stacey Bissell

The profile of challenging behaviours is compared between younger (aged 1-4 years) and older (aged 5-11 years) children with TSC and compared to gender- and age-matched typically developing younger and older children. To determine how behaviours may change over time during the critical early years of development, results from a follow-up study with this younger group of children with TSC will be presented.

Over the next two years, researchers at the University of Birmingham will be conducting a direct study of sleep in children with TSC (Principal Investigator: Dr Caroline Richards). This next stage in our behavioural research strategy is also in this presentation with further details of this direct sleep study.

By Dr Stacey Bissell, of Birmingham University School of Psychology.

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In your region England news

A court case in England School Exclusions has delivered a landmark verdict in a hearing that will make it harder to exclude autistic children from school. The ruling makes clear for the first time that all schools must make sure they have made adjustments for autistic children before they can resort to exclusion. For more information on the background to the case, which was supported by the National Autistic Society, see the blog here goo.gl/1FiiRf

Young Person’s guide to SEND disagreement resolution

This is a new guide developed by Mott Macdonald to support young people aged 16-25 in resolving special educational needs and disability (SEND) disagreements. The organisation worked with many organisations and groups, including groups of young disabled people to produce the guide. This information provides advice to young people who are unhappy with the support they are receiving to find the right help to resolve those issues. It lists who young people can go to and the steps to take.

The guide provides advice and information about how young people who are unhappy with the support they are getting for their special educational needs or disability can find the right help and advice to resolve their issues. The guide explains who young people can go to for support and the steps to take. goo.gl/BjdG4x

Blue Badge scheme extended to include hidden disabilities From early next year, those in England with less immediately obvious illnesses and disabilities will have the right to a badge which allows holders to park in certain places that aren't available to others.

The Department for Transport said that while the current rules covering the badge scheme in England do not specifically exclude those with non-physical disabilities, they are open to interpretation by local authorities - and so the new rules provide more clarity.

Carers Action Plan 2018-2020 The action plan supporting carers in England was published by the Department of Health and Social Care in June. It sets out a cross government programme of work to support carers over the next two years.

The document is split into dierent themes including young carers, employment, suitable services and research to improve outcomes for carers. However, there is no promise of any extra finance for carers. This plan is not the revised Carers Strategy that was expected but people will have the opportunity to respond when the Social Care Green Paper is published in late 2018.

To read the original article please visit goo.gl/dE4fUu

To read the original article please go to goo.gl/CsF63x

Borrow books Borrow e-books and audiobooks from Cerebra free for 28 days. You need to register with Cerebra and the books can be downloaded onto your computer and various devices.

Contact Cerebra for more information www.cerebra.org.uk or 0800 328 1159 24

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In your region Scotland news

Huge thanks to Salena Begley MBE for providing us all with information on Family Fund, the options available to families and guidance on how to apply. For further information go to: www.familyfund.org.uk or call 01904 550055

Scottish Get Together 2018 in summary Lynn Shields with Scott Richardson-Read

Carers’ Act

Attendees at this year's Scottish Get Together Thanks to everyone who came along to our Scottish Get Together 2018 and made it such a success, writes TSA Adviser for Scotland Lynn Shields.

It was great to see our community catching up with old friends and new families being welcomed. Huge thanks to Liz Dougan from the Office of Rare Conditions and her ‘partner in crime’Arlene Smyth from the Turner Syndrome Support Society, for all their generous support in ensuing the event was a success, and to all our amazing speakers on the day. Finally thank you to everyone for completing the evaluations forms on the day, and for the many helpful suggestions received.

Here is a snapshot of information shared on the day.

Genetic Alliance Natalie Frankish provided us all with information on The Rare Resources Project, and the development of the Toolkit of information resources for families in Scotland who have received a diagnosis of a rare, genetic condition or who have an undiagnosed condition, and discussed the possibility of our community being involved. The Toolkit is a flexible resource with information and signposting to support services in Scotland. For further information on the Toolkit and Genetic Alliance work in Scotland please see: www.geneticalliance.org.uk/scottish-cpg or contact Natalie Frankish at natalie@geneticalliance.org.uk

The Carers Act came into force on the 1st April 2018.

The Act provides new rights to carers in several areas. The Coalition of Carers in Scotland has worked with many carers, carer organisations, health and social care staff to create a set of leaflets for carers which set out what your new rights are and what to expect.

An overview of the Act can be downloaded here: www.carersnet.org/carers-act-resources

The Office for Rare Conditions (ORC) The ORC seeks to develop a strong network of patient support organisations for people living with rare conditions. If you would like to discuss patientrelated concerns or share your experience, please get in touch with Liz Dougan by calling 0141 451 5899.

Or for further information go to: www.officeforrareconditions.org or www.facebook.com/ORCGlasgow

Scottish Transitions Forum Grateful thanks to Scott Richardson-Read who gave us all some fantastic information on what transitions from child to adult services should involve, and what we should all reasonably expect. For further information go to goo.gl/32ebyN

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In your region Wales news

Supporting siblings of children with TSC

Improving lives for people with a learning disability Summer 2018 saw the Welsh Government launch a new programme focussing on improving services for people in Wales with a learning disability. The New Lives programme focuses on five key areas: early years, housing, social care, health and education.

Martyn Jones, CEO of Learning Disability Wales says, “We are particularly pleased to see there will be a focus across the life span as this will enable the appropriate support for children, families and carers right now and in the future. It is absolutely crucial that we create a Wales that meets the needs of people with learning disabilities through the transition from child to adult and as they grow older.”

More information can be found here:

Our Welsh Adviser Ellie Russell has recently completed Group Leader Training with the organisation Sibs to learn more about supporting brothers and sisters of children with disabilities.

Ellie will be helping to run the siblings group during the TSA Big Day and says she‘can’t wait’to put all she has learnt in to practice. If you have any worries or concerns about siblings of children with TSC, Ellie would be very happy to have a chat with you. Or go to www.sibs.org.uk which has lots of information, advice and practical tips.

goo.gl/rWZJA3 and goo.gl/7hZqw8 (easy read version) Or call 029 2068 1160.

Same But Different

Support groups for people with epilepsy across Wales Did you know that Epilepsy Wales runs support groups across Wales? These are relaxed and generally take place in a local coffee shop or café. To find out more about what’s going on in your area go to epilepsy.wales/support-groups or call 0800 228 9016.

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The TSA is very excited to be working with the Wales-based Same But Different community interest company which uses the arts to raise awareness of disability and challenge prejudice. It is currently looking for people to take part in an exciting photographic project which will shine the light on rare diseases like TSC. If you are interested in taking part or would like more information, you can contact Same But Different at enquiries@samebutdifferentcic.org or go to www.samebutdifferent.org.uk/rare-project2 or call Ceri on 07971 983028.

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In your region Northern Ireland news Affected by PIP assessments?

The Independent Review of the Personal Independence Payment Assessment (PIP) Assessment Process in Northern Ireland was published on 28 June, including some input from the TSA. Please see the link below to view the full published report goo.gl/VzGehT

To find the contact details of your local TSA Adviser, go to the back page

Grants and support In NI Family Fund has grants and other support that could be available to local families raising a child or young person aged 17 and under with a disability or serious/life limiting condition, including neurological conditions.

Please check their website for more information: www.familyfund.org.uk

Epilepsy Action local groups

Epilepsy Action NI run local coffee and chat groups where you can meet other people living with epilepsy in a relaxed setting. There are monthly meet ups in Belfast, Lisburn, Ballynahinch and Cookstown and you can also volunteer to help run the groups.

More details can be found at: www.epilepsy.org.uk/near-me The website also has a useful guide to learning and behaviour in children with epilepsy; goo.gl/VsBydb

Belfast City Airport is George Best JAM card friendly Belfast City Airport is one of the first airports to become JAM Card friendly.

JAM Cards (Just a Minute) are designed to discreetly notify staff that holders may require additional time in a simple and non-verbal way.

While originally intended for those with learning disabilities, JAM Cards can now be used by anyone experiencing a barrier to communication.

Read more about it here goo.gl/cXEQFD

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TSC World Conference Dallas 2018 An international perspective on TSC. What a brilliant experience it was to attend the TS World Conference writes Clare Kassa, the TSA's Head of Information and Support Services.

I hadn’t known what to expect at all, but it definitely exceeded my expectations on every level. For 3 days we were immersed in the world of TSC, meeting families, people with TSC and clinicians from all over the world. It was marvellous to hear amazing speakers in person, some of whom I had seen previously thanks to their videos on YouTube (thank you, Petrus de Vries) and also to learn more informally from conversations over mealtimes and breaktimes.

The TSA supported two parents to attend the conference also, Carole Hagan and Annemarie Cotton. I am grateful for their good company and wisdom, which enhanced my learning experience. Do read their blogs which can be found here www.tuberous-sclerosis.org/blog.

There was also the fantastic opportunity to meet with colleagues from around the world from other TS organisations. Those links are invaluable and will help us to collaborate more in the future on shared goals and ideas. The TSA is part of TSCi – an international network of TS organisations – and it was fascinating to hear that the challenges are very similar both at home and abroad.

Having an international perspective certainly gives food for thought – we know things can be tough for people with TSC in the UK, but we do have access to amazing committed clinicians who are generous with their expertise. Dr Chris Kingswood, Professor Julian Sampson and Professor Finbar O'Callaghan, clinicians from the UK were also in attendance, providing huge contributions to the education sessions.

Please keep an eye on www.tuberous-sclerosis.org for write-ups of individual programme sessions.

Clare Kassa and colleagues including TS parents Carole Hagan and Annemarie Cotton at the World TSC Conference in Dallas, Texas 28

2018

So what were the standout moments from the conference? There were many, but I will restrict myself to just three!

• Listening to Dr Chris Kingswood speak personally about his experience of TSC as a parent – his clinical expertise here is well regarded, but I think we were all touched by his own personal account.

• TAND (TSC associated NeuroPsychiatric Disorders) presented by Petrus De Vries – completely fascinating and highlights the work we need to do to provide more support.

• Sleep and TSC and in particular the impact that epilepsy has on sleep.

The overriding message of the conference was one of hope. As Dr Chris Kingswood said “It is not if we find a cure, but when.”

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Clinics’ news

Liverpool TSC clinic.

TSCommunity

TSC clinics take place every three months at the Royal Liverpool University Hospital.

Two nephrologist consultants, a consultant urologist, a clinical psychologist, a learning disability nurse, a pharmacist and a TSC nurse support the service providing specialist advice to patients and their relatives. There are also plans for a neurologist to attend in January 2019 from the Walton Centre.

Dr Nick Annear

St George’s hub and spoke model of care.

In support of the new UK Guidelines on the Management of TSC (see page 7), the team at the TS Clinic at St George’s Hospital, South West London, has pioneered a‘hub and spoke’ model of care as an example of good practise for treating people with TSC. Nick Annear from St George’s, which this year celebrates the 25th anniversary of its first TSC clinic, says the core, support and specialised services required for the holistic management of TSC patients include specialist doctors in brain, kidney, chest, X-ray, children’s and genetic medicine, all coordinated for each patient from a central hub hospital, by a TSC nurse specialist.

For more information about the clinic or to be referred, please contact Nicholas Annear, Consultant Nephrologist and TSC Specialist at St George’s Hospital via the email: TSCreferrals@stgeorges.nhs.uk

Nurse-led clinics take place each month for patients to drop in to discuss any concerns and home visits can be arranged. A TSC patient forum also takes place every three months allowing patients and families to chat together about the condition with clinicians.

Further details of the next clinics and forum can be found at: www.tuberous-sclerosis.org/clinics Finally patients can call the RLUH TSC helpline on 0151 706 3276 at any time for advice and support from specialized nurses.

Newcastle multiprofessional TSC clinic.

Newcastle’s multi-professional TSC clinic started in January 2017.

Within a friendly out-patient environment at the Royal Victoria Infirmary and Great North Children’s Hospital the clinic sees children, adults and their families from across the North East of England referred in by their GP or specialists.

The team is made up of a TSA Adviser Chris Beal neurologist and epilepsy specialist with Dr Yincent Tse (Dr Rhys Thomas), an adult kidney specialist (Prof. John Sayer), a children’s kidney specialist (Dr Yincent Tse) and a genetics specialist. Ready access is also provided to other specialists including dermatologists and lung specialists and special facilities including scans.

On a Saturday morning in September, Newcastle held its first ever TSC family information day. It was well attended, patients were able to meet experts, and talks were given on topics including pain control, access to benefits and Newcastle United Foundation Charity talked about their free walking football sessions to encourage physical activity.

For more information please call 0191 2824076.

For more details of all TSC clinics across the UK please go to www.tuberous-sclerosis.org/clinics-map.html For more information please call 020 7922 7731.

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Looking for all your wacky and wonderful ideas TSA Fundraising update by Mikaela Conlin-Hulme.

So, as all readers of the previous edition of SCAN already know, we now have not one, but two, amazing fundraising mangers looking after the country, Kathryn and Tanya. But that’s not the only development in our fundraising activity.

Mikaela Conlin-Hulme, Interim Head of Income Generation

We’ve already started working hard to improve our fundraising activities which includes trying to diversify not only what we do but where we do it. What does this mean? Well, for example, Kathryn recently travelled to Glasgow to meet with our Scottish TS community and see what ideas they have to be part of #TeamTSA. From swimming with sharks to funding a patient registry via walking a virtual loop of all the TSA clinics – we have already had some exciting discussions.

Sadly, however our travel budget means that, much as we might like to, we just can’t visit everywhere. So, wherever you are we would absolutely love to hear from you what you would like to challenge yourself with for the TSA. We are always looking for all your wacky and wonderful ideas so please do email us at fundraising@tuberous.sclerosis.org In addition, behind the scenes we are also working hard to improve the processes and systems around fundraising at the TSA, and although this side of our work is a lot less glamorous it is nevertheless incredibly important.

Kathryn Harrison

We always want to ensure we are fully compliant with ever-evolving fundraising laws and best practice. And even more importantly we also want to make sure we are maximising every single donation we receive by working in the most cost-effective way.

To do this we are currently looking at our gift aid processes to make sure we are claiming everything we can, as well as taking a fresh look at our online giving platforms and webpages, working hard to make sure that your experience of fundraising for the TSA is as easy as it can be!

Tanya Darnton

Finally for now, regular visitors to our website will already have noticed that we have a new badge which we are wearing with pride to show our membership of the fundraising regulator which recognises our commitment to excellence in fundraising.

So please do read on and check out some of the big fundraising events we will be supporting in 2019, plus catch up with the wonderful achievements of our inspirational community fundraisers. Watch this space as there really are exciting times ahead for #TeamTSA which we hope everyone can be part of as together we will REACH more people and drive more REseArCH!

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Make 2019 your year!

Some #TeamTSA challenges to get you motivated.

Great North Run 2019 Sun 8th September 2019

At this time of year who could blame you for wanting to be snuggled on the sofa rather than pulling on your trainers and heading out into the cold. So why not set yourself a challenge for 2019 to boost your motivation, and to raise money for the TSA? There are plenty of opportunities – here are some of our big upcoming events for which you might like to start training.

New York Marathon 3rd November 2019 This time next year, you could be running past towering buildings and iconic landmarks alongside New York’s bustling streets. Add to this the excitement of running a marathon and this can only mean one thing – it’s the world’s largest marathon, the TCS New York City Marathon!

We are delighted to be able to offer once-in-a-lifetime opportunities for our #TeamTSA running community to take part In this iconic event thanks to specialist travel firm Sports Tours International.

London Marathon Sunday April 19th 2020

Starting in Newcastle upon Tyne, the 13.1 mile route takes runners through the city centre towards the River Tyne, over the iconic Tyne Bridge, where, if you’re lucky, you might get a glimpse of the Red Arrows passing overhead.

From there you travel through Gateshead to South Shields where, at the top of Prince Edward Road, the view of the sea is one of the most welcoming sights along the whole course, because from that point there is just over a mile to go.

Do what you love for a charity close to your heart And if you don’t fancy any of these, or you would like to do something more local, why not sign up to your local run or challenge event and still raise money for the TSA? Don’t worry because whatever you decide to do we’ll be here to support you to the finish line!

As part of #TeamTSA you will be supported throughout your event preparation. Our team will be on hand to encourage you with your fundraising, answer any questions you have and to thank you for all of your hard work.

As part of #TeamTSA you will receive:

• a fundraising pack full of tips and advice to help you reach your sponsorship target

The London Marathon is one of the world’s greatest marathons. Starting in Greenwich and banked with supporters throughout, competitors follow the iconic route taking in the breath-taking landmarks of London and finishing down the beautiful Mall.

• dedicated support • online fundraising support • social media promotion • a running vest or t-shirt To register your interest in being part of our #TeamTSA please email fundraising@tuberous-sclerosis.org

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From headshaves to readathons to epic cycle rides A huge thank you to all our inspirational #TeamTSA fundraisers!

Sara Seifan

Sara’s Close Shave Super seven-year-old Cerys smashes it

Cerys Barnes

Seven-year-old Cerys Barnes ran in the first Brighton Music 5k in May raising £110 for us because her younger brother George has TS. What a star!

‘We don’t run…’ The Eriksson-Seaton family completed the Lee Valley Velopark 5K run for #TeamTSA, despite mum, Annaleah, saying ‘Anyone who knows us knows that we don't run!’

Well done to you all and a huge thank you for raising over £200 for TSA!

Sarah Seifan, a TSC research scientist at Cardiff University, bravely had her head shaved to support us raising £569 in the process.

Looking good, Sara!

TSA’s very own Kings of Lyon Tour to Lyon’s seven men rode 700 miles in seven days, from Barnstaple in Devon to Lyon, France, raising more than £6,000 for us, as well as funds for The Brain Tumour Charity and Centre Leon Berard. Roger Wickham, Scott St John, Kenny Gallagher, Ian Tranter, Shaun Jameson, Andrew Jeffery and Andy Pittey were inspired to ride by Roger’s daughter, Chloe, who had a tumour in her skull, her friend, Agate, from Lyon, who sadly passed away at the age of 17 due to a brain tumour, and their friend Lauren, who has TSC. Inspirational stuff chaps!

Un-put-downable!

A huge thank you to the Second Year bookworms at Reigate Grammar School who have raised £1,952 thanks to their Readathon for TSC, fantastic!

Who says kids don’t read any more?!

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Dress down day in North Wales We would like to thank Janine Anderson and all the staff at Alder House, North Wales, part of NHS Wales Welsh Shared Services division, for their fantastic donation of £144 which they raised for us through a dress down day.

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Ruth and friends conquer the Yorkshire Three Peaks Undeterred by the July heatwave, #TeamTSA’s Agnew and Yarwood families undertook the Yorkshire Three Peaks Challenge completing the climbs in 11 hours and 38 minutes!

The team raised a fantastic £1,356 in memory of Ruth’s cousin, Andrew Flatt, who had TSC and who sadly passed away last year.

Great North Run

Rutland for a warrior princess Congratulations to Gemma Cramp who ran the Rutland half marathon in recognition of her warrior princess daughter whom has TSC, and has raised over £190 for the TSA. Thank you.

Riding the Ring of Kerry In July Stephen Bannon and friends Andy Kelly, Nick Lindley, Damien Deazley and Michael Quinn cycled 180km around the Ring of Kerry on the West Coast of Ireland. They completed the ride in 10 and a half hours raising £3,685 for #TeamTSA. Thank you all!

A huge thank you to our #TeamTSA Great North Run runners Lyndsey Petrey, Alan Welby and Stephen Cotton who have, to date, raised a whopping £4,470! All of you have done an amazing job, both with fundraising and raising awareness of TSC. Thank you so much – you are all stars!

Goal! Goal!

GOAL!!!!

Our Ring of Kerry riders

Hair-raising moments with Amy and Esme Landlady of Darlington’s Britannia Inn Amy Cooper had all her hair shaved off to Amy Cooper and Esme support her sister Louise and twin nephews Riley and Tyler who all have TSC! Thanks also to seven-yearold Esme, who also fundraised for us, by having her beautiful blond ponytail cut short. As well as the duo raising £886 for #TeamTSA, Esme donated her hair to the Little Princess Cancer Charity for children.

Massive thanks to Adrian Hunt and his colleagues at Ian Black Ian Black Consulting Consulting, Belfast, who organised a hugely successful 5-a-side football tournament in June to raise funds for us and the Motor Neurone Disease Association. Sixteen teams took part from across Northern Ireland and Galway and £2,050 was raised for the TSA.

Pedal Power Team climb high for #TeamTSA Huge thank you to Derby’s 20-strong Pedal Power Systems Team #TSA's Pedal Power riders cycling team, led by Paul McCarthy, who covered 2350 miles for us – and climbed a total of 95,000 ft - over two days in the Peak District raising £901 for #TeamTSA. TSA SCAN

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Prudential Ride 100 Thank you to our #TeamTSA Prudential Ride 100 2018 cyclists Neil Henderson, Glyn Richards, brothers Paul and Grant Barnes, Alex Joannou, Mark Edmonds and Jon Watkinson. All braved the rain to complete the ride raising an epic total of £7,816. Way to go fellas!

Neil Henderson

Neil’s a London Classic A huge thank you goes to Neil Henderson who has completed the prestigious London Classics challenge for us, running the London Marathon, cycling 100 miles in the Prudential Ride London – Surrey, and completing the two mile Serpentine Swim raising £4,102 for us. Brilliant, Neil!

Mark

Jon

Grant & Paul

Alex & Glyn

Scottish Get Together And here is a lovely message from #TeamTSA’s Scottish volunteer Vicky Mason who has been raising money for us at our annual Scottish Get Together for more years than we can remember!

“A huge thank you to everyone who came along to the Scottish Get Together on the Saturday 25th August 2018 and bought tombola tickets and some old stock Christmas cards at the event. With your help we raised £150 for TSA funds. My thanks too to Craig and Nessie Garrett for their help in selling the cards – it was through them I got into volunteering for the TSA, so lots of thanks to them. It was lovely also to finally meet Kathryn Harrison, the Regional TSA Fundraising Manager for the north of the UK. Once again, my thanks to all the Scottish TS members and hope to see you at the Get Together next year.

With Best Wishes - Vicky Mason (Volunteer Fundraiser)”

Glasgow Big Fun Run 5K Thank you to Marjorie Ross, Val McMillan, Louise McMillan, Sandra Alcorn, Donna Alcorn and Jennifer Bell who ran for #TeamTSA raising £1,047.

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And not forgetting…

Ashlee Spink, Kelly Marie Brown (pictured) and hubbie Matt our #TeamTSA Great South Run competitors who, at the time of going to press, are still doing their warm up exercises and getting ready for the big event.

But we are sure you will all do us proud!

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Putting the fun in FUNdraising Wedding bells Happy Birthday Pat and Ian! Inspired by a young family member who has TSC, #TeamTSA’s Pat and Ian Grizzell asked for donations in lieu of birthday gifts for their joint 60thcelebrations and raised £250 for us.

Belated happy birthday to you both.

Huge #TeamTSA congratulations to Colin and Suphanit Light who got married in July and asked guests for donations to the TSA in lieu of wedding gifts. In doing so they raised an amazing £2,617!

Thank you both so very much indeed.

The countdown to Christmas is on!

Please help us to provide help for today and a cure for tomorrow by buying your Christmas cards.

Shop

TSA

Designs will be chosen at random from existing TSA branded stock. Please note that we can’t guarantee that you’ll receive any particular design. Last order date for Christmas delivery is 10 December 2018 10 cards in a pack £3

TSA t-shirt £5 (sizes S, M, L and XL)

#TeamTSA children’s hoodies £20 (sizes 3-4, 5-6, 7-8, 9-11)

TSA pin badge £1 TSA distinctive running vest £8 (one size)

#TeamTSA adult’s hoodies £25 (sizes S, M, L, XL and XXL)

TSA hessian bag £3.50

To order, go to www.tuberous-sclerosis.org/shoptsa or call 020 7922 7731 TSA SCAN

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Lynn Shields* covers Scotland.

Lynn works Tuesday to Friday. lynn.shields@tuberous-sclerosis.org 01236 608 257

Christine Beal covers Yorkshire, Cumbria, Durham, Northumberland, North West and Greater Manchester.

Christine works Monday to Wednesday. christine.beal@tuberous-sclerosis.org 01924 849 937

Claire Kirk covers Northern Ireland.

Kendra Rhodehouse covers Midlands,

Claire works Monday to Wednesday. claire.kirk@tuberous-sclerosis.org 07724 591 485

East Anglia, Hereford and Shropshire.

Kendra works Tuesday to Thursday. kendra.rhodehouse@tuberous-sclerosis.org 01159 384 260

Ellie Russell covers Wales.

Ellie works Wednesday to Friday. ellie.russell@tuberous-sclerosis.org 029 2019 7672

Melanie Feek covers South West England.

Melanie works Monday, Tuesday and Thursday. melanie.feek@tuberous-sclerosis.org 01752 657 263

Maureen Tossi** covers London and South East.

Maureen works Monday to Thursday. maureen.tossi@tuberous-sclerosis.org 01865 865 089

TSA Support Map *Lynn Shields is the Senior Adviser for Scotland, Wales and Northern Ireland. **Maureen Tossi is Senior Adviser for England.