TSA Annual Report 2013

report2012/2013

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Tuberous Sclerosis Complex (TSC) is a geneticcondition that can lead to growths in various organsof the body, but those most commonly affected arethe brain, eyes, heart, kidney, skin and lungs.

These growths may also be referred to as tumoursbut they are not cancerous. When they causeproblems it is mainly because of their size andwhere they are in the body. TSC growths havedifferent names depending on which organ theyare found in.

The impact of TSC varies considerably, with somepeople being relatively mildly affected (they maynot even know they have TSC) and others beingmore significantly affected. This impact may beevident in the early years, or not until adulthood.

Thanks to research findings and with improvedmedical care, people with TSC can expect to livehealthier lives with a normal life expectancy, inmost cases.

What is TSC?

Launched in 1977 with a membership of 50 familiesand funds of £25, the Tuberous SclerosisAssociation (TSA) has grown from a round robinsupport letter, to a professional organisationproviding support to families affected by TSCacross the UK. The TSA has three main objectives:

• To support individuals affected by TSC, togetherwith their families or carers.• To encourage and support research into thecauses and management of TSC.• To provide education and information.

About The TuberousSclerosis Association

Our Mission“To provide care for today and hope of a cure for tomorrow”


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A message from ourChairmanChanging for the better"Change" Lord Melbourne is reputed to have said. "Why? Aren't things badenough already?"

This is my last Annual Report as Chair. I'm in my fourth year of office, and Ihave told the Board that is enough - for me as well as them! Organisationsneed to be refreshed, and I am pleased to have welcomed a number of newTrustees during my period of office - they have brought necessary newthinking to the Board. We have also welcomed a Chief Executive Officer oftruly stunning levels of both ability and action - the contribution Jayne Spinkhas made in a mere two years has been astounding.

During my term of office, I have had moments of real pleasure at ourachievements; moments of real frustration with some of the problems that havecome to light; and moments when the burden of office has been a very heavyand lonely one. But throughout it has been a privilege to serve a remarkableAssociation, which in turn exists to serve a TSC community containing amazinghuman beings doing amazing things in the midst of adversity.

Managing change is not easy. All human beings like continuity. We all find ituncomfortable to be challenged, to be asked to do new things, to do old thingsin different ways, to be accountable, to be set performance targets, or in sumto be managed.

But the TSA Board’s duty is owed to the Association, and through theAssociation to the TSC community we exist to serve. And, in challengingtimes, particularly for charities, we must ourselves develop in order to serveour community effectively. Our last SCAN (member magazine) set out some ofthese key developments:

• Volunteering and Localism – more peer support, and more local support• Research - improving both quantity and quality• Using the NHS changes to fight for better treatment paths for Rare Diseases• Using social media, not least for fund-raising

I have been privileged to lead the TSA as we have set ourselves on a firmfooting, and taken the first key steps along this path of necessary change.There is more to do – much more. As a Board, we have confidence in JayneSpink, and in the staff team as a whole, to deliver that change. And, as I passthe Chair to Martin Short next spring (and I am enormously grateful to him forhis unfailing support during the last two years while he has been my Deputy,particularly at the times I needed it most), I am confident that our foundationsare much sounder, and our future is much more hopeful, than it was four yearsago.

Finally, I willingly and enthusiastically record my gratitude to my Boardcolleagues, to all our staff, and above all to you as Members, for all you do tosupport this amazing organisation.

With best wishes

Philip Goldenberg Chair


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When sisters Vicky Mason and Margaret Kelly reflect on their lives, many thingsmake more sense with hindsight - they only recently learned they were bothborn with tuberous sclerosis complex (TSC). For the majority of their lives the

sisters were under a cloak of secrecy created by their mother who found it difficult toaccept that the family was, in her view, ‘blighted’ by a genetic condition. The girls struggledwith a range of symptoms, unaware that they were connected by a common condition; theydidn’t know what new symptoms to look out for or the implications of starting families oftheir own.

The Tuberous Sclerosis Association provides support to families affected by TSCthrough information services, events and a team of Specialist Advisors. Thisoffers a listening ear and a vital source of expert advice; advocacy to obtain thesupport needed and a link to meet other families and share experiences.

Vicky had always had a nagging feeling that she wasdifferent to other people. A childhood of epilepsy;difficulties achieving at school or in the workplace; eventhe untimely death of Margaret’s identical twin sister,Anne, from a brain tumour aged 17 - everything fell intoplace when doctors explained to the then 34-year-oldVicky that the troublesome growths on her toes werelinked to her TSC.

Family SecretsShe was distraught and further dismayed to learn that herlate mother had always known the truth but, as Vicky’sfather explained, had not been comfortable talking aboutthe condition and had preferred that the girls were notinformed. Vicky said:“I was a mess when I found out about my TSC. Worry;anxiety; anger…all these were going through my mindalong with the question…. `Why did my mum not tell me`?Even saying the words ‘tuberous sclerosis’ soundedforeign!”

Feeling empoweredWith her new-found knowledge Vicky also found courageand empowerment. It instantly shed light on the array ofdisparate symptoms she and Margaret had been dealingwith over the years, such as facial rashes and growths inorgans including kidneys and the brain. Moreoverunderstanding the cause of their lifelong health problemsalso allowed them to tap into support from the TuberousSclerosis Association (TSA) which had been there all thetime. Vicky said:“I wanted to become involved with the TSA the moment Ifound out I had the condition and I also wanted to help in

any way possible.”The first point of contact for Vicky was her TSC Adviserabout whom Vicky said:“I remember she had a lovely, calming voice over thetelephone and knew just the right things to say to calm medown. It was just great to be able to talk to someone whounderstood what I was going through”

Difficult decisionsFor the first time Vicky realized that she and her husbandmust seriously consider whether they should risk havinganother child, a brother or sister for their son William.Talking about the terribly difficult decision they had tomake Vicky said: “It broke my heart to conclude thatWilliam would never have a brother or sister so it wasn’t adecision we took lightly but I’ve managed to come toterms with it through time.”

Determined that William will be able to make informeddecisions right from the start in a way she could not, Vickyhas explained to him that even though he shows nosymptoms, the genetic nature of TSC means he could haveaffected genes and pass them onto his own children. Shesaid:“He knows the risks for the future and that it’s somethinghe will need to look into.”

Doing something worthwhileArmed with her new-found knowledge and connections,Vicky soon discovered ways of contributing to the work ofthe TSA and, alongside other volunteers and TSCAdvisers, volunteered to help organize support events forScotland. She and others find the annual Scottish Get-Together a tremendous source of comfort and usefulinformation. A range of relevant experts makepresentations and other families from Scotland cometogether to share experiences. Vicky, who also capitalizeson the opportunity the event provides to raise money forthe TSA, said:“It is a lifeline for people with TSC to gain information andtalk to others who may be experiencing the sameproblems.”

Support

“My TSC Adviser gave me reallyhelpful information and outlined thesort of monitoring my daughter shouldbe having. I now feel so much bettersupported and less alone, knowing Ican always call if I have a question. It’sbeen really reassuring.”


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Employment concernsTSC has affected Margaret more severely than Vicky andthe sisters were concerned when their father died thatMargaret may have difficulty coping without the carewhich he had previously provided. Happily theseconcerns were unfounded as their TSC Adviser was able to step in to support and advise on all kinds of mattersincluding employment issues. Margaret has worked forthe same company for 40 years as they are geared up toaccommodate people with disabilities. When a newcontract resulted in significant changes to her terms andconditions, her TSC Adviser accompanied a greatlyrelieved Margaret to a meeting to help her understand theimplications.

Specialist ClinicMargaret was also persuaded to attend one of the TSAmember events. Having overcome her initial anxiety,Margaret not only enjoyed herself but was motivated tomake a donation to the event which she had found souseful. While there she met a senior health professionalwho helped refer her to the local TSC Specialist Clinic.This has resulted in Margaret receiving better medicalmonitoring and stronger links with her communitynursing team. Vicky said:“Margaret has no doubts that coming into the TuberousSclerosis Association has helped her a lot.”

Enormous advancementsDuring Vicky and Margaret’s lifetime there have beenenormous advancements in understanding of TSC andtreatments for it. Attitudes and approaches to geneticconditions, learning difficulties and problems likeepilepsy have also improved since the time their motherwas told of the family’s link to TSC. Rather than lookingback with regret Vicky and Margaret consider their stilluncertain future with optimism, grateful for the TSA’ssupport, and keen to do something worthwhilethemselves. William has grown into a fine young man withgood prospects. Although he may also have difficultdecisions to make in the future, his family are comfortedthat he will do so with all the facts at his fingertips.

Vicky said:“We know that tuberous sclerosis complex will always bethere but then I hope so will the TSA.”

“I’ve made some of my closet friendsthrough meeting people at TSAOutlook weekends who’ve encouragedme to accept, adapt and appreciate myTSC diagnosis today, offering memutual support through so manydifferent medical and social stages ofmy life.”

Our TSC Advisers haveprovided direct support to

183 families this year. Morethan 1,000 participants

benefited from our diverseprogramme of 40 separate

events


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Positive Experiences – TS2000This support came in an opportunity to join a researchstudy funded by the TSA - the first of its kind in the UK totrack the experiences and development over time of allchildren diagnosed with TSC born between 2000 and2006. The TS2000 Study gave researchers a uniqueopportunity to map the emergence of physical problemssuch as epilepsy amongst these children and look fortrends in triggers and responses to treatments.Now entering its second phase TS2000 researchers arefocusing on behaviour and cognitive problems associated

with TSC such as ADHD and autism and again hoping toimprove knowledge of when and why these problemsoccur and how best to treat them. For the Cotton family thismeans a home visit from researchers this summer forassessments and exercises involving the whole family -

something Esme’s older brother 12-year-old Jacob isparticularly looking forward to. Annemarie said: “The teamhave always made things as friendly, inclusive and simpleas possible for us to engage with.”

Having joined the study when Esme was very young, theirinvolvement has consisted of some visits to Cambridge fortests and assessments early on and subsequent follow upvia telephone or written questionnaires with newslettersupdating all families of progress.

One of the team planning to visit the Cottons is CharlotteTye, Post-Doctoral Research Worker at the Institute ofPsychiatry. Charlotte is delighted that all the families whooriginally signed up remain willing to stay involved now.She said: “This allows us to build a detailed, accuratepicture of how TSC develops in different individuals whichis representative of the UK population and gives us reallypowerful information.”

Charlotte is excited about the potential impact of TS2000 inhelping to identify the risk factors for TSC-relatedbehaviour and cognitive problems which might influencethe development of new treatments and help doctorstarget treatments to the right people at the right time,particularly as it links with other current studies.

MotivationFor the Cotton family, these potential future benefits areonly part of what makes it rewarding to volunteer forresearch. Annemarie describes their motivation forsupporting the TSA in this way as partly altruistic as they’repleased to be able to contribute to the wider body ofresearch into TSC. However there is also some personalgain through Esme receiving more assessments than shemight otherwise have had, which, in the case of TS2000,enabled clinical researchers to share assessment resultswith other medical professionals monitoring Esme.Annemarie said: “It’s been rewarding to feel part of finding

Research

“Over the years the TSA hasprogressively managed to becomeeven more effective to the point whereprofessionals, staff and volunteerswithin the organization operate asextremely valuable experts in theirfields.”Dr Chris Kingswood, Head of ResearchStrategy at the Tuberous SclerosisAssociation (TSA) and Consultant KidneySpecialist at Brighton and SussexUniversity Hospitals Trust

“Without the support of the TSA itwould have been difficult in the earlydays to get research off the ground.”Professor Patrick Bolton PhD FRCP,Professor of Child & AdolescentPsychiatry at the Institute of Psychiatry.

Both of nine-year-old Esme Cotton’s parents have a professional understanding of how important it isthat people come forward to support medical research. Steve is a GP and Annemarie recentlyqualified as a Speech and Language Therapist. When their daughter started having seizures as a

baby, Steve knew instantly that this required hospital investigation and soon after Esme was diagnosedwith TSC. Esme and the whole family have also benefitted from her parents’ appreciation of the benefit ofcontacting the Tuberous Sclerosis Association (TSA).

Since the TSA began funding research in 1980 we have given financial support to a widerange of projects spanning the research spectrum from the laboratory to the clinic.Our funding has contributed to medical advances such as the identification of TSCgenes; DNA testing for TSC and Clinical trials of mTOR inhibitors. There is very littlegovernment funded TSC research in the UK. Our research strategy focuses onunderstanding TSC and its impacts and treating and preventing manifestations of TSC.


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the answers to help support other people with TSC butmost of all Esme’s loved the things she’s done and hadfun.”

One trial leads to another…And what could be more fun than a weekend away in ahotel with a swimming pool, just you and your Mum? Withsuch positive previous experience of involvement in trials,the family were pleased to volunteer on hearing at a TSAConference about a research project to investigate issuesrelating to challenging behaviour and Autism SpectrumDisorder in children with TSC undertaken by researchers

at the Cerebra Centre for Neurodevelopmental Disorders.These include TSA Research Fellow, Dr Lucy Wilde whosefunding has enabled the team explore this really importantarea and build on the existing links with the TSA.

Although making great progress already, researchers arestill busy recruiting people for this study. Lucy is keen todispel the myth that research always involves people inwhite coats poking and prodding, she said: “We just loveworking with children so they enjoy themselves whilstgiving us invaluable insights. We really value howgenerous people are with their time. The children we’vemet so far have been able to give us some importantinformation which we’re hoping to share quickly with theinternational research community to spread the benefitwidely.”

Annemarie felt extremely comfortable with the level ofsupport and flexibility on offer to her and Esme as theteam were happy to explain by phone what is involved andanswer specific concerns. After an initial telephone

interview to gauge the right level of assessments for Esme,they travelled under expenses for a weekend atBirmingham University. Esme thoroughly enjoyed herself,engaging in a series of tests which felt like playing, evenwhen watching DVD’s or pictures whilst attached to anelectrode cap to monitor her brainwaves or a machine totrack her eye movement. Keen to return on the second dayand immensely proud of the photos and certificate ofparticipation she subsequently received, Annemariecommented on Esme’s reaction:“Esme enjoyed it all - not just the hotel - because of theway the team arranged the tests to make Esme feel specialand have fun.”

TSC for EsmeApart from facial rashes, Esme’s main manifestation of TSCis epilepsy which has never been fully controlled,averaging around two seizures a week. She has somebehavioural issues which may be linked to her TSC andlearning delay but manages well in mainstream schoolwith one-to-one support. At school; with friends andcousins; going to Brownies; swimming or riding a horse,Esme is happy out or at home where she loves playingwith her dog. She’s a great help around the kitchen, alwayswilling to pitch in with preparing meals; motivated by thebit she likes best – eating it!

Annemarie would encourage other families affected byTSC to consider signing up to a study. She said: “I’vealways felt entirely comfortable that someone will taketime to explain things to us and although we’ve neverbeen tempted, we can withdraw at any stage.”

“My wife and I really appreciated thehigh quality information and theefforts being made to stimulateresearch into TSC.”

“I have genuine hope for my child’sfuture when I hear about theadvancements in treatments for TSC.”

This year we funded twonew Junior Fellowships.

Our new research strategy,published this year, ensures

best value for money withoptimum outcomes forpeople with TSC.


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Never aloneFighting on their side has alwaysbeen their TSC Adviser, funded bythe Tuberous Sclerosis Association(TSA), who Eva describes as their‘angel in disguise.’ The family havebenefitted from having someone atthe end of the phone to give them theconfidence and information to makesure Nicola has received the level ofexpert medical intervention she’sneeded. Devastated from the recentnews that their first and only childhad a life-long, potentially life-limiting condition, Eva and husband,Lucas, contacted the TSA at once. Onmany occasions when Eva was nearlyat desperation point, she found thather TSC Adviser could give her theanswers she needed or put her intouch with the right expert. Eva said:“The best thing I ever did was thatphone call to the TSA on the day we

left hospital. My Adviser’s never letme down. I keep in touch with her toupdate her even when things aregoing well.”

In controlEva has found that over time and withthe help of their TSC Adviser thingshave changed for the better forNicola who is now surrounded byhealth professionals who involve thefamily in all decisions about her care.Her TSC Adviser arranged for Nicolato be referred to a TSC SpecialistClinic which led to Nicola receivingtreatment which stopped thedestructive infantile spasms whichwere thwarting her chances ofdevelopment. This was a life-changing moment as Nicola soonwent on to walk, something herparents had initially been told mightnever happen. Eva said: “Having

TSC is already a battle andsometimes you might have an extrabattle to get the help you need. TheTSA has always been there to give usthe knowledge, the tools and thestrength to keep going.”

Still unable to speak Nicola cancommunicate well through signs andgestures; sometimes cleverly tryinghugs and kisses to call attention towhat she wants. She is atremendously happy little girl with alust for life. Eva said: “She knowswhat’s going on…if we offer her anice-cream she rubs her tummy sohard I worry a hole will appear andwhen we mention the park she’s atthe front door within seconds, readyto go.”

Things have never been plain sailingand Eva doesn’t anticipate a trouble-free future. Nicola has undergone twobrain operations to removeaggressively growing tubers, neitherwith complete success. To try to avoidfurther surgery, she has recentlybecome one of the youngest childrenin the UK to start treatment with anewly licensed drug to shrink TSC-related tubers.

Fundraising

Running a marathon,although a massive task, isthe least we can do to try toraise money for the TSA togo towards research andsupport for the families.

Even in the middle of a seizure, three-year-old Nicola Szcesniak will try to keep on playing.Described by her mother, Eva, as ‘an amazing fighter’, Nicola has already defied initialpredictions of how badly TSC was going to affect her. Throughout the many difficult times

this family has faced, it has been Nicola’s fighting spirit which inspired her parents never togive up. At some points Nicola, who was diagnosed with TSC at three weeks old and has rarelybeen free from epilepsy, has endured seizures every ten minutes. Eva said: “It’s heartbreakingto watch Nicola suffer a seizure but when it is finished her smile glues my heart back together.”

Fundraisers for the TSA find many ways to raise money from corporate or trustdonations to fundraising in the local community, at school or in the workplace. Ourfundraisers find that helping the TSA in this way can be a great way to raise awarenessof TSC; learn new skills; meet people and have fun!


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Giving something backThe moment that life settled downafter the trauma of Nicola’soperations, Eva and Lucas wanted toexpress their appreciation for theTSA’s support. Eva said: “No amountof money could be equal to the helpwe’ve received and what it has meantto us.”

From the outset Eva was confidentshe could find a way to fundraisewhich worked for her. She said:“Fundraising doesn’t need to bedifficult or time-consuming.” Herlatest idea is to shave her head alongwith friends and family members.Lucas has already completed a fiveman three-day sponsored cycle ridealong 170 miles from Morecombe toBridlington to raise awareness of TSCand support the TSA. The couplehave been repeatedly overwhelmedby the extent to which other peoplehave wanted to help. Lucas works fora decorating company called AJMDecorating and his boss, Adrian, has

been tremendously supportive onseveral events including providing asupport vehicle for Lucas’ cycle rideand raising money himself byswimming the Utterly Butterly Swim.Even friends of friends, people thefamily had never previously met haveresponded to Nicola’s story withgenerous offers of support; somehave gone as far as organising theirown fundraising events. Eva said:“We didn’t realise how many selflessand caring people were out there.”

Eva also wants people around Nicolato understand what an amazingperson she is and what she hasalready been through. As well asraising vital money, their fundraisinginitiatives have given them theopportunity to tell people about TSC.

Growing upNicola has already defiedexpectations and developed a strongand winning personality. Her TSCmeans that no-one can predict what

further symptoms she may developin the future or how she will respondto treatment. Eva has gladly given upa rewarding career to focus on herdaughter, a decision which hasalready proved more worthwhile thanshe could ever have imagined.Dealing with the consequences ofNicola’s TSC can still beoverwhelming at times but strength

comes from knowing she issupported and from Nicola’sresponse to her own situation. Evasaid: “Nicola has already proved thedoctors wrong with how well she hasdeveloped and I’ve no doubt she’llcontinue to beat expectations into thefuture.”

People are so amazing!It’s quite overwhelmingto see what they arewilling to give and feeltheir compassion for mychild.

Over £220,000 has beenraised by families and

friends of people affectedby TSC. TSA runners raised

more than £10,000 in VirginLondon 2012 Marathon.


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This year the Tuberous Sclerosis Association (TSA ) has evolved to meet thechallenges of a constantly changing world. We have taken care to retain thesuccessful elements of our programmes of support, awareness-raising and

research whilst adapting to flourish.

In addition to the outward signs ofchange; our rebrand, new websiteand re-launched SCAN magazine,we’ve been modernising oursystems and processes in order todeliver a more responsive and costeffective service. We have consulted with ourmembership and fed theirresponses directly into plans for thefuture.In this impact report we highlight ourkey achievements for 2012–2013.

SUPPORTSupporting families and individualsliving with TSC is absolutelyfundamental to what we do. Thisyear our TSC Advisers haveprovided direct support to 183families, delivering bespokeadvice, information and help withnavigating health, social care andeducation systems. Staff liaised withprofessionals for 82 of thesefamilies and provided feedback to275 general enquiries about TSC. Inmany instances complex support isrequired for example on behalf ofjust one individual advisers madecontact with nearly 20 differentprofessionals such as medicalspecialists, lawyers and disabilityservices as well as attendingmeetings and providing writtensupport. Our TSC Advisers haveliaised closely with the TSCSpecialist Clinics, and this year wehave “pump-primed” a much-needed post at AddenbrookesHospital in Cambridge as part ofour work to support service

improvement.Through our diverse programme ofaround 40 separate events withmore than 1,000 participants we’veprovided opportunities formembers to meet up and shareexperiences in a socialenvironment with other peopleaffected by TSC and to hear aboutthe latest developments in care andtreatment.

We have restated our commitmentto placing the views, needs andwishes of people with TSC at thecentre of everything the TSA does.As part of this commitment we’veconducted our first comprehensivesurvey. The survey gathered theviews of our membership about thequality and relevance of theservices we provide andinformation about the experiencesof our membership in relation tohealth social care and education.The outcomes of the survey willhelp to guide our future plans.

This year we have:• Continued to provide a highstandard of care and supportthrough the work of the TSCAdvisers.

• Pump-primed a key post in theNHS which otherwise would nothave been funded.• Delivered the Annual FamilyConference (with an expandedprogramme attracting 250

delegates), the Scottish Get-Together and Outlook Event (foradults mildly affected by TSC).• Conducted our firstcomprehensive membershipsurvey and published the results.

VOLUNTEERINGThis year, the Board signed off ourfirst volunteering strategy andpolicy marking our commitment toinvolving a diverse range of peoplein both formal and informalvolunteering roles. Volunteers arethe life-blood of the charity sector.Volunteers from the TSC communityare at our very foundation. Theybring to the TSA the value ofunderstanding the needs of peopleaffected by TSC. By harnessing thetalents and commitment ofvolunteers we will increase ourimpact and achievements. Throughthe development of local volunteernetworks providing mutual supportwe will promote the wellbeing ofpeople affected by TSC. This year we have:• Formulated our volunteering

Impact Report

“In the UK the TSA standsapart from many otherresearch and patientcharities – an exemplarymodel in the way it hasalways embraced bothpatient and family supportbut also recognised theimportance of training andresearch.”

Invaluable update ofinformation on progress inresearch and treatment ofTSC.

Really excellent overall.Excellent update on wherethings are with TSC.


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strategy and policy, securingfunds to recruit a volunteerCoordinator (in post from July2013).

• Recruited the first threevolunteers into our new “TalentPool’ - volunteers withprofessional skills supporting oursocial media, informationproduction and volunteeringprogramme.

INFLUENCINGThis year we have witnessed thegreatest changes of our generationtaking place in the NHS and theGovernment has consulted on itsplans for a UK Rare DiseasesStrategy. We have actively engaged withpoliticians, policy makers,regulators and charity coalitiongroups in England, Scotland andWales, calling for equity of accessto quality care, support andmedicines and for more investmentinto rare disease research. We have

begun to build our evidence baseso that we can better make ourcase.

This year we have:• Continued to influence policy andprovision often throughpartnerships, such as our workwith Specialised HealthcareAlliance and Rare Diseases UK.• Submitted a comprehensiveresponse to the Governments’Rare Disease Plan Consultation.• Participated in the UK’s largestRare Disease Day event on 28February 2013 at Royal HollowayCollege, and featured inassociated media coverage.• Highlighted gaps in provision andfunding for TSC services andmedicines with policy makers,regulators and politicians.• Continued our active involvementin the management andoperational work of TSCInternational and E-TSC.

FUNDRAISINGIn developing our new FundraisingStrategy we’ve focused on winningmore substantial grants fromcorporates, trusts and foundations

and on supporting our amazingCommunity Fundraisers withfundraising toolkits, personaladvice and support; enabling moreof our supporters to participate infundraising activities and events. Almost £215,000 has been raised byfamilies and friends of thoseaffected by TSC over the past 12months, with several groups raisingin excess of £3,000.The launch of our new brand hasraised our profile in the charityenvironment. The development ofour new website and launch of oursocial media activities haveextended our reach nationally andinternationally. The TSA now hasover 370 followers on Facebook andover 100 on Twitter. Our newwebsite was visited by more than11,000 people during awarenessweek alone.

This year we have:• Developed a new fundraisingstrategy to deliver diversificationand increased forecasts forincome.

• Developed a new programme ofcharity challenges and events,attracting new supporters.• Launched our first ever Tea &Scones 4 TSC AwarenessCampaign during internationalTSC Awareness Month, generatingcelebrity support, media andfundraising activity across the UK • Substantial number of communityfundraising donations in excess of£2,000 • More than £10,000 raised by TSArunners in the 2012 LondonMarathon

• Our thanks go to the following fortheir significant contributions:• Novartis• 2013 Genetic Disorders UK(Jeans for Genes Day)• Fuserna Foundation • Peter Sowerby CharitableFoundation• Genzyme• Tudor Reilly• The Annandale CharitableTrust• Sylvia Aitken Charitable Trust• The Joyce Kathleen StirrupCharitable Trust• DigOnline.co.uk

INFORMATION AND EDUCATIONThis year we have developed andimplemented an informationproduction process with a view toachieving accreditation under theDepartment of Health InformationStandard. Our commitment is toproduce clearly written informationthat is accurate and up-to-date,based on the best availableevidence; balanced andindependent; the content of whichmeets the needs of people livingwith TSC. Being awarded theInformation Standard willdemonstrate that we have achievedthese high standards.

Educating health, education andsocial care professionals about TSCis a vital part of the work we do. Weare approaching this challenge intwo ways; through our TSC

I gained knowledge aboutsymptoms, treatment, careand where I can go iffurther help is needed.

“After we'd got our headsaround what our son's TSCcould mean we felt weneeded to do something tohelp him and anyone elsewith TSC.”

“I learned a lot about thesubject and can bring thisknowledge to theworkplace. “

. , , ,

.

References: A list of TSC scientific references, TSC

clinics and TSC Professional Advisers is available o

n request but all

is held on our website www.tuberous-sclerosis.org

Acknowledgements: Adapted with permission from “An Introduction to TSC”

, published by the Tuberous Sclerosis

Alliance (USA). With thanks to the TSC information user review group w

ho contributed to this publication.

Publication & Review: January 2013 First Edition. S

uggestions for improvement in future editions are welcomed. This

information booklet will be reviewed two years on from its publication.

Supporting the TSA: The TSA provides this information free of charge but if

you would like to help cover the cost please

visit the fundraising section of our website to make a donation: www.tube

rous-sclerosis.org

Or send a cheque or postal order to Tuberous Sclero

sis Association, PO Box 8001, Derby DE1 0YA.

Anything you can give will be greatly appreciated.

Disclaimer: We have made every effort to ensure that information in this publication is

correct at the time of going to

print. We do not accept liability for any errors or omissions, and policy and pr

actice may change.

Information and SupportWe are here to help and sup

port you.

The first thing to understand is that

TSC is a very complex disease. TSC

affects all individuals differently, so

what you might read about one

person and how TSC impacts his or

her life may be quite different from

how it impacts your life.

Another thing to remember is that

different aspects of TSC affect an

individual’s life at different times.

For example, you may be concerned

about the heart tumours in a new-

born baby who has just been

diagnosed with TSC, but a person in

his or her 40s may only need to be

concerned about the kidney benign

tumours.

Living with TSC can raise a number of

challenges and uncertainties but

much has been learnt about TSC over

the last decade and research into the

condition has never been so active.

TSC Guidelines have been reviewed

and updated based on the scientific

evidence by worldwide experts.

The TSA can help you access the

accurate and reliable information that

you need, as and when you need it.

The TSA can liaise with and signpost

you to specialist services and help

raise awareness and understanding of

TSC amongst professionals. Examples

of the ways in which we can help

include:

• Supporting people attending

meetings with professionals, school

review meetings, health care

meetings, complaints processes and

specialist hospital visits

• Helping individuals liaising with social services a

nd health care professionals

• Liaising on your behalf with our Professional Medical Advisers regarding

complex TSC queries

• Providing TSC awareness sessions to staff in resid

ential homes, supported living accommodation, schools and to

professional staff such as nurses where appropriate

• Helping set up local regional support groups

• Holding events and gatherings to exchange inform

ation, share experiences and meet others in similar situations.

The Tuberous Sclerosis Association is a Company Limited by Guarantee Registered in

England & Wales No: 2900107. Registered Office: Toad Hall, White Rose Lane, Woking, Surrey

GU22 7LB. Registered Charity No: 1039549 Scottish

Registered Charity No: SC042780

An Introduction to Tuberous Sclerosis Complex

What is TSC?TSC is a genetic condition th

at can lead

to growths in various organs of the body,

but those most commonly affected are

the brain, eyes, heart, kidney, skin and

lungs. These growths may also be

referred to as benign tumours but they

are not cancerous. When they cause

problems it is mainly because of their

size and where they are in the body. TSC

growths have different names

depending on which organ they are

found in. The severity of TSC covers a

wide range. Some people are so mildly

affected that they experience very few

problems. Others may be more

severely affected and this can become

apparent in childhood or adulthood.

It is important to know the possible

effects of TSC on different areas of the

body and to follow the

recommendations for screening and

evaluating TSC (see the TSA Guidelines

on screening, monitoring and treatment

of TSC). These guidelines help

professionals and parents/carers with

the early identification of complications

to ensure prompt and effective

treatment. Thanks to research findings

and with improved medical care, the

majority of people with TSC can expect

to live healthier lives with a normal life

expectancy.

DiagnosisPeople with TSC may be diagnosed in

the course of investigation, during

treatment for problems with specific

organs or during genetic screening of

family members. For example,

diagnosis may follow the finding of

heart tumours prenatally or in new-

borns, the onset of infantile spasms in

babies, a diagnosis of autism in

children, the development of skin

problems in adolescents or the onset of

kidney problems in adults. It is

important to know that TSC affects

each individual differently, even

within a family.

There is no single clinical feature that is

absolutely specific to TSC. Instead, the

diagnosis of TSC is based on a careful

physical examination in combination

with imaging studies (scans). Published

diagnostic criteria exists for

professionals to check against and

certain features need to be present or in

combination to have a definite diagnosis

of TSC. A small number of NHS TSC

clinics exist throughout the UK. TSC

Guidelines provide guidance from

TSC Specialists on the screening,

monitoring and treatment of different

aspects of TSC.

The specific tests that are performed

depend on the age of the individual who

is suspected of having TSC and may

include the following:

• MRI (magnetic resonance imaging)

scan of the brain,

• CT (computed tomography) scan of

the lungs liver and kidneys,

• Ultrasound scan of the kidneys,

• Echocardiogram of the heart,

• Eye examination to look for

abnormalities of the retina,

• Skin examination under ultraviolet

light,• Genetic testing to diagnos

e and/or

confirm a diagnosis of TSC.

Features of TSCSeveral types of brain abnor

malities

may be seen in people with TSC. Some

people will have all of these changes,

and others will have none. However the

vast majority of people with TSC have

one of these abnormalities. It is

important to screen all individuals with

TSC then individualise the monitoring

plan so that any problems can be

treated should they arise.

The TSC Guidelines (available at

www.tuberous-sclerosis.org) include at

what age people with TSC should be

monitored and at what frequency

depending on whether an abnormality

is present and at what size, including

what actions are recommended.

Cortical Tubers are disorganised areas

of the brain that contain abnormal cells

and are best visualised by an MRI scan

of the brain. Some people may have

several tubers whereas others may have

one or none. Although these tubers may

become easier to see on scans over

time, no new tubers develop after a

child is born. Researchers used to think th

at

neurological difficulties were caused by

a combination of:

The number and position of tumours

(tubers) in the brain

The types of seizures, age of onset and

whether the seizures can be controlled

However, as researchers have done

more work, is has become clear that the

molecular abnormalities caused by the

TSC mutation can directly lead to

Every month around 10 babies are born in the UK with TSC

.

An estimated 1 million people world-wide have TSC. Some

will be diagnosed with TSC very early in life whilst

others

may not be diagnosed until later childhood, adolesce

nce or

adulthood. This booklet has been produced by the

Tuberous

Sclerosis Association (TSA) to help those families and individuals

newly diagnosed, and those professionals caring fo

r them, to

understand more about TSC.

In this booklet we describe the various ways in whi

ch a person

with TSC might be affected. As you read this booklet, it is

important to keep in mind that TSC varies from person to person

and that most people with TSC do not have all of the features

described. If you find you would like further infor

mation on any

particular aspect of TSC or would like advice or sup

port please

contact us: Tuberous Sclerosis Association, PO Box 8001, Derby

DE1 0YA. www.tuberous-sclerosis.org.

An Introduction to Tuberous

Sclerosis Complex

Introduction

. , , ,

.


P12

Awareness Training and for the firsttime, seeking to reach a diverse anddispersed audience through onlinelearning.

This year we have:• Developed a new informationleaflet aimed at newly diagnosedpeople in-line with our newprocess.• Initiated a project with BMJ-onlineto develop and launch a CPD(continued professionaldevelopment) accredited e-learning module on diagnosis andtreatment of TSC that is aimed atGPs and non-specialists insecondary care.• Delivered TSC Awareness Trainingto 50 health, social care andeducation professionals.

RESEARCHThere is very little governmentfunded TSC research in the UK. Forthis reason, it is absolutely vital thatthe TSA continues to invest inresearch and targets its researchspend effectively. Our strategyfocuses on understanding TSC andits impacts and treating andpreventing manifestations of TSC.This year we have focussed on thenuts and bolts of research grantmanagement, updating our termsand conditions and making sure wecan demonstrate the outcomes andbenefits of research that we fund. Inthis way we can ensure best value formoney from our research spend andthe maximum value in terms ofoutcomes for people affected byTSC.

This year we have• Published our research strategy.• Changed the way we monitoroutcomes of research – using afacility called Researchfish (at no-cost to the TSA for the first 3 years).• Updated the Terms & Conditions ofour research contract to ensure robust research management and

value for money.• Funded two new Junior Fellowships.• Launched a major grant roundinviting applications for projectgrants and Junior Fellowships.

COMMUNICATIONSOur goal is to raise publicrecognition of and support for theTSA and thereby awareness of TSCfor the ultimate benefit of ourcommunity. This year’s rebrand andthe introduction of a consistent styleto all our materials promote theimage of a professional and efficientorganisation.

This year we have:• Launched a new website; our mostimmediate and comprehensivecommunication tool with dynamiccontent and social mediacapability.• Launched the TSA onto Facebook(370 followers) and Twitter(morethan 100). • Re-launched SCAN magazine withcontent and style that reflectsresponses to our 2012 readershipsurvey.

Our Key Priorities for 2013/2014

• Reconnect with existing volunteers, develop roledescriptors and recruit as appropriate into newroles.• Identify and implement a new database for the TSAto provide for knowledge management and higherstandards in support and beneficiary care.• Run a successful and well-received annual familyconference and fulfil legal requirements for anAnnual General Meeting. • Provide a national event in Scotland that issuccessful and well-received.• Organise a membership event aimed at providingsupport to adults mildly affected by TSC.• Make a major investment in TSC research inresponse to applications received into our 2013/14grant-round and seek funding collaborations toincrease the impact of each £ we spend.• Influence policy development for rare diseases todeliver benefit for people affected by TSC.• Help shape the way in which NHS services for TSCare funded and in doing so support servicedevelopment and help deliver equity of access totreatments and care.• Continue to build on the success of the communityfundraising programme by engaging moresupporters to participate in events and activities.

• Working with the new Volunteer Co-Ordinator,recruit up to 20 fundraising volunteers and pilot aregional fundraising group.• Maximise our average fundraising donation byencouraging supporters to exploit all availablesocial media channels and conventional media topublicise their fundraising event/activity.• Develop two national fundraising campaigns: onefocussed around International TSC Awareness Weekand another focussed on the Christmas period.• Diversify our fundraising portfolio to include legacypromotion and regular giving etc. Research andassess the potential of other activity includinglotteries and mobile giving.• Implement a comprehensive digital media strategyto promote enhanced engagement with supportersand to maximise the fundraising potential of thisimportant channel.• Develop a more targeted trust fundraisingprogramme to increase the frequency and level ofTrust donations to the TSA.• Encourage supporters to “open up their networks”to extend the reach of the TSA and raise awareness.• Keep our supporter care strategy at the heart of allwe do, and maintain the “personal touch” whereverpossible.


P13

Fundraising Gallery

1 2 3

10 11

4 5 6

7 8

9

1 Sarah Mills’ son Harry has TSC. Picturedwith Harry and daughters Honey and Maizy,Sarah ran a Community Fun Day at a localJunior school.

2 Nick Dale gathered a team of friends who ranan unusual marathon around the historic walls ofYork, inspired by Nick’s son Sam who has TSC.

3 Shaun Bastin and Charlotte Dudley raised funds bravely skydiving and, moresedately, from a cake sale.

4 Darren and Jo Jackson made an enormous donation ofsporting memorabilia which Darren had collected to beauctioned to raise funds. Pictured here with daughterEllie, who has TSC.

5. Scott Earrey pictured having just completed theIpswich Half Marathon with his daughter Kimberleywho has TSC.

6 Brothers Matt and Luke Adamski ran the BrightonHalf Marathon for Luke’s daughter three-year-old Indiwith TSC.

9 Coventry City College played host to a fundraising stall forthe TSA organised by Ellie Welch, who has TSC, whoseclassmates rallied to support her.

10 Accountancy firm Ashmole & Co have undertaken a range offundraising events for the TSA in support of partner Rob Vaughanand his daughter Katie who has TSC. Here a team of cyclistscelebrate completing 200 miles across the Welsh mountains.

11 A huge debt of thanks goes to GDF Suez after 16riders completed an 80 mile cycle challenge,raising funds for the TSA. GDF Suez employee, NickBudinger’s daughter, Olivia, has TSC.

7 Some of the TSA’s intrepid London Marathon teamcelebrate their success.

8 Paediatric Consultant Dr Anurag Saxena pictured outsideCardiff University’s Cancer Geneteics Building where heworks on research into TSC. Anurag has taken up running toraise funds for the TSA.


P14

Financial ReportsSummary Financial StatementsThe summary financial statements on pages 14 to 15 are a summary of the information extracted from the statutoryfinancial statements and Report of the Trustees. The summary financial statements may not contain sufficientinformation to allow a full understanding of the financial affairs of the Association. For further information, a copy ofthe statutory accounts and the auditor’s unqualified report on these accounts should be consulted. Copies may beobtained from the Company Secretary.

The statutory financial statements and Report of the Trustees were approved by the Trustees and signed on 11September 2013. Copies have been delivered to Companies House, the Charity Commission and The Office of theScottish Charity Regulator. The financial statements have been audited by a qualified auditor, BDO LLP, whichgave an audit opinion that was unqualified and no statements have been made by the auditor under section 498(2)of the Companies Act 2006 (accounting records or accounts not agreeing with the records), or section 498(3) of theCompanies Act 2006 (failure to obtain necessary information and explanations). The auditor’s report in respect ofsection 496 of the Companies Act 2006 (whether the trustees report is consistent with the accounts) wasunqualified.

On behalf of the Trustees

D R Vaughan TreasurerTuberous Sclerosis Association4 October 2013

TUBEROUS SCLEROSIS ASSOCIATIONSummary Balance Sheet as at 31 March 2013

FIXED ASSETSTangible assetsInvestments

Total Fixed Assets

CURRENT ASSETSDebtors and prepaymentsCash at bank and in hand

Total Current Assets

CURRENT LIABILITIESResearch grants due within one yearOther creditors due within one year

Net Current Assets

Total Assets less Current Liabilities

OTHER LIABILITIESResearch grants due beyond one year

NET ASSETS

FUNDSUnrestricted fundsGeneral fundsDesignated Capital Fund - HI Leech Bequest

Restricted funds

TOTAL FUNDS

2013 £

3,599,206

3,599,206

32,498119,385

151,883

(50,100)(35,399)

66,384

3,665,590

(30,000)

3,635,590

76,1963,527,4383,603,634

31,956

3,635,590

2012 £

3,171,811

3,171,811

24,401129,929

154,330

(41,095)(35,134)

78,101

3,249,912

-

3,249,912

62,2163,124,4933,186,709

63,203

3,249,912


P15

Independent Auditor’s statement to the Members of Tuberous Sclerosis AssociationWe have examined the summary financial statement for the year ended 31 March 2013 set out on pages 14 to 15.

Respective responsibilities of trustees and auditorThe trustees are responsible for preparing the annual report in accordance with applicable United Kingdom law.Our responsibility is to report to you our opinion on the consistency of the summary financial statement within the annual report with the fullannual financial statements and the Report of the Trustees, and its compliance with the relevant requirements of section 427 of the CompaniesAct 2006 and the regulations made there under.We also read the other information contained in the annual report and consider the implications for our report if we become aware of anyapparent misstatements of material inconsistencies with the summary financial statements.

Our report has been prepared pursuant to the requirements of the Companies Act 2006 and for no other purpose. No person is entitled to relyon this report unless such a person is a person entitled to rely upon this report by virtue of and for the purpose of the Companies Act 2006 orhas been expressly authorised to do so by our prior written consent. Save as above, we do not accept responsibility for this report to any otherperson or for any other purpose and we hereby expressly disclaim any and all such liability.

Basis of opinionWe conducted our work in accordance with Bulletin 2008/3 ‘The auditors’ statement on summary financial statement in the United Kingdom’issued by the Auditing Practices Board. Our report on the charity’s full annual financial statements describes the basis of our opinion on thosefinancial statements and on the Report of the Trustees.

OpinionIn our opinion the summary financial statement is consistent with the full annual financial statements and the Report of the Trustees of TuberousSclerosis Association for the year ended 31 March 2013 and complies with the applicable requirements of section 427 of the Companies Act2006, and the regulations made there under.We have not considered the effects of any events between the date on which we signed our report on the full annual financial statements on 12September 2013 and the date of this statement.

BDO LLPStatutory auditor, Birmingham, UK. Date: 9 October 2013

Summary statement of financial activities

INCOMING RESOURCESIncoming resources from general funds:Voluntary IncomeLegaciesGrantsSubscriptions and donations

Activities for generating fundsInvestment income

Incoming resources from charitable activities:EducationFamily care & supportResearch

TOTAL INCOMING RESOURCES

RESOURCES EXPENDEDCost of generating funds:Cost of generating voluntary incomeCost of fund-generating activitiesInvestment management costs

Charitable activities:ResearchPromoting awarenessEducationFamily care & support

Governance costs

TOTAL RESOURCES EXPENDED

NET (OUTGOING)/ INCOMING RESOURCES

Gains (losses) on investment assets

NET MOVEMENT OF FUNDS

Funds brought forward 1 April 2012

Funds carried forward 31 March 2013

Summary Financial Statements (Continued)

2013 £

36,741-

177,732214,4739,306

117,079

51,129-

10,000401,987

38,1128,37614,186

101,33456,67744,855168,92525,271

457,736

(55,749)

441,427

385,678

3,249,912

3,635,590

2012£

16,774-

207,047223,82115,300104,490

55,5628,486

-407,659

25,53511,55814,018

42,37734,82566,650170,84618,444

384,253

23,406

(38,498)

(15,092)

3,265,004

3,249,912


Board of Trustees

*Indicates member of Finance Committee

StaffJayne Spink – CEO

Janet Brewer - Head of FundraisingEmma Damian-Grint – Community Fundraising Manager

Tanya Darnton - Volunteer CoordinatorFiona Clark - TSC AdviserLynn Shields - TSC AdviserMaureen Tossi - TSC Adviser

The Tuberous Sclerosis Association would like to express its sincere thanks to the following medical professionals who are so generous withtheir expertise and time in their role as Professional Advisers to our organisation and members of our Research Committee.

Professional Advisers 2012-13Dr R Appleton MA, FRCP, FRCPCH – Consultant Paediatric Neurologist with specific interests in epilepsy

Dr S Blunt MB, ChB, MD, FRCOG – Consultant Obstetrician & GynaecologistProf P Bolton MA, BSc, MB, BS, PhD, MRCPsych – Professor in Child and Adolescent Neuropsychiatry

Prof J Cheadle BSc, PhD – Professor of Medical GeneticsDr A Clarke MB, ChB, BAO, MRCP – Consultant Paediatric Neurologist

Prof PM Crawford MB, ChB, MD, FRCP – Consultant Neurologist with a special interest in epilepsyProf P de Vries MB, ChB, MRCPsych, PhD – Sue Struengmann Chair of Child & Adolescent Psychiatry

Dr A Fryer BSc, MB, BS, MD, FRCP, FRCPCH – Consultant Clinical GeneticistProf PD Griffiths FRCR, PhD, FMedSci – Professor of RadiologyProf P Gringras MB, ChB – Consultant Paediatric Neurologist

Dr E Hughes BSc, MB, FRCPCH – Consultant Paediatric NeurologistDr A Humphrey PhD – Consultant Clinical Psychologist

Prof SR Johnson BSc, DM, FRCP – Professor of Respiratory MedicineDr Shelagh Joss MB, ChB, MRCPCH, MEd - Consultant Clinical GeneticistDr JC Kingswood MRCS, MB, BS, FRCP – Consultant Renal PhysicianProf M Knowles BSc, PhD – Professor of Experimental Oncology

Dr W Lam MB, ChB, FRCP, MD(ES)Doctor – Consultant Clinical Geneticist & Honorary Senior LecturerDr F O’Callaghan MA, MB, ChB, MSc, PhD, FRCP, FRCPCH – Consultant Paediatric Neurologist

Prof S Povey MD, FMedSci – Professor Emeritus of Human GeneticsDr H Ring BSc, MB, BS, MRCPsych, MD – University Lecturer in Developmental Psychology & Honorary Consultant

Prof J Sampson DM, FRCP, FMedSci – Professor of GeneticsDr PJ Santosh MB, BS, DipNB (Psych), MRCPsych, MD, PhD – Consultant in Child & Adolescent Neuropsychiatry & Psychopharmacology

Dr CW Shepherd MD, FRCP, FRCPCH – Consultant PaediatricianDr R Trompeter FRCP, FRCPCH –Paediatric NephrologistDr NP Walker MB, BS, FRCP – Consultant Dermatologist

Prof JRW Yates MA, MB, BS, FRCP – Emeritus Professor of Medical Genetics & Honorary Consultant (retired)

Research CommitteeProfessor Harold Baum, John Blay, Jeannie Blay, Paula Davis, Nick Davis,

Catherine Falconer (Chair), Dr A Fryer, Carole Hagan, Perry James, Dr JC Kingswood

Trustee OfficersPresident

Christine Naylor *Chair

Philip Goldenberg *Deputy ChairMartin Short *

Honorary TreasurerRob Vaughan *

Other TrusteesMartin Balfour-Allen

Janet BowerAlexandra Campbell

Tom Carter *Nick DaleMarie JamesPerry JamesAnnie Jones

Dr Chris KingswoodJean Willson OBESophie Lording

Tuberous Sclerosis Associationis a Company Limited by Guarantee Registered in England & Wales No. 2900107 Registered Charity No. 1039549

Scottish Registered Charity No. SC042780. Registered Office: Abertawe House, Ystrad Rd, Fforestfach, Swansea SA5 4JBFor more information go to: www.tuberous-sclerosis.org


Documents

TSA Annual Report 2013