UK
magazine
The Magazine of the TSA
Edition 101 - Spring 2013
In this Spring issue of Scan Magazine
Our new look SCAN packed full of news and stories 2.Contents
What’s where in this edition of your SCAN magazine
3. A message from our Editor Best wished from Isobel McFarlane
8.Tea & Scones Fundraiser TSA joins up with an unusual charity
9. A message from our CEO Latest updates and thoughts from Jayne Spink
6. Our new logo
See the progressive charity we have now become
8.Jeans for Genes Day
7. Dig beneath the surface
Thoughts from Robert Minter
TSA joins up with an unusual charity
9. Latest news on Votubia
UK Launch of Votubia® to treat Renal Angiomyolipomas (AML)
10. Olivia’s Surprise
Diagnosed with an irregular heartbeat on Valentine’s day 2009
11. An introduction to TSC
12. Research - is now your chance?
6 studies looking for recruits
New TSA Patient Information Leaflet
14. Conference News
A detailed report from the Tuberous Sclerosis Conference - 28th November 2012
20. A Wright bright future
A warm welcome from the Wright family
21.TSA funds new post
TSA help with a new post in Cambridge
23. Speech Therapy
TSA member Annemarie Cotton’s recent research project
26. Fundraising News
25. Help from her friends A big year for Katie Vaughan
A round up of all of the recent fundaising for the TSA
Rear Cover.Your contacts at The TSA
Everything you need to get intough with all departments at the TSA
Colour coded articles in this issue are:
Editorial
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Fundraising
Research
A message from our Editor Isobel McFarlane
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elcome to the first new-look SCAN with a fresh design incorporating the TSA’s brand new visual identity. In this edition you can read about why we needed to change this and how it was done. We hope the changes will make reading news from the TSA easier and more enjoyable.
Featured on this edition’s front cover is TSC researcher Dr Anurag Saxena from Cardiff who makes a fitting, if rather embarrassed first ‘poster boy’ as he brings together the strands of clinical practice, research and fundraising. Dr Saxena has been selected to run the London Marathon for us this year as well as working full time on the TRON study. He also has years of experience treating people with TSC as a paediatric neurologist.
Once again I was privileged to attend the Annual Conference and put faces to names of many people who have kindly contributed to SCAN and the Annual Report and with whom I’ve previously only been in touch via phone or email. The conference was packed with really helpful presentations and so, as a reminder for those of us who attended and an explanation for you who weren’t able to be there, we have included in SCAN a comprehensive report of proceedings, expertly produced for us by Pippa Goldenberg. A particular highlight is her extremely clear layman’s description of how mTOR inhibitors work which certainly helped me make sense of these complex scientific concepts.
Other contributors in this edition include Annemarie Cotton who gives us feedback on her recent research project on Speech and Language Therapy and TSC as well as news of a new TSA-funded post in Cambridge and several members sharing their experiences of life with TSC. Many thanks to all contributors and please keep in touch.
With best wishes
Isobel McFarlane Editor, SCAN
Isobel.mcfarlane@tuberous-sclerosis.org
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A message from our CEO
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Jayne Spink
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ay sees the launch of an exciting new TSA fundraising initiative: Tea and Scones for TSC, and we would love as many of you as possible to get involved. The campaign will run during TSC Awareness Week (May 13-19) and we want individuals, schools, companies and community groups holding scone bake sales and afternoon tea parties to raise money for families affected by TSC.
ooking out from the window it's encouraging to see a glimmer of spring sunshine at last. We may be all too familiar with false starts with the weather, as much else, but this is the welcome annual reminder that eventually things do get better.
You are reading now the new-look SCAN designed in our new brand. Over the year we’ll continue to pack SCAN with the types of stories and news that the readership survey told us members most want to read. We’ve also launched our new website. We hope you’ll find this attractive, easy to navigate and full of useful information. We look forward to receiving your contributions and comments as the site evolves.
Here’s how you can help: Ask your child’s school if they will put a date in the diary w/c May 15th for a Tea and Scones for TSC event. It could be a simple scone bake sale or if children bake scones that week as part of their DT curriculum activity, they could ask family members for a contribution to the TSA when they take them home for eating! Talk to your colleagues at work about organising a Tea and Scones for TSC event – tea and scones could be available for a contribution at a break time, or you could go the whole hog and put on a full cream tea…
If you are part of a community group such as a WI group or retirement group, please ask them to include a Tea and Scones for TSC event in their calendar for May, and if you would like to organise your own individual tea party, let your friends know an invitation will be coming their way. And there will be a prize for the individual or group who holds their Tea and Scones for TSC in the most unusual place – half the way up a mountain, in a swimming pool, on the top deck of a bus – just let your imagination run riot!
The fundraising activity will form part of the TSC Awareness Week campaign, when we will be looking to raise awareness of TSC as a condition throughout the UK across all media. We will be looking for families to tell their stories about living with TSC, largely in the press, on radio and on video. If you feel you can help by telling your story, please contact Isobel, our SCAN editor – Isobel.Mcfarlane@tuberous-sclerosis.org. Isobel would love to hear as soon as possible from anyone willing so that we can plan effectively, whether you are personally going to organise an event around Tea and Scones for TSC or just happy for your story to be told.
fundraising ideas, a press release template and tea party invitations.
If you would like to receive one of these packs, please email your name and address to emma.damiangrint@tuberous-sclerosis.org now to register your interest, and the pack will be mailed to you as soon as available (the packs will also be available to download from the TSA website). You can really help us raise awareness of TSC and make a difference, so let’s get baking!
Moving into the summer months we’ve an exciting programme of work planned and we’ll be using the outcomes of our 2012 survey to guide us. We’ll be developing and updating our information products, working in partnership with professionals and people living with TSC. We will also be developing and launching a new online educational tool aimed at healthcare professionals, in particular those working in local hospitals and GP clinics.
At the end of 2012 the TSA Board agreed a new volunteering strategy and I am delighted that we will be able to take this forward in 2013 and that we have support in the form of a newly awarded grant from Genetic Disorders UK to help us.
We’re also looking to grow our research programme, funding more highquality TSC research and proactively seeking funding partnerships to support this. We’ll be bringing you research news throughout the year,via SCAN, emails and our new website.
We’re promised a hot and lovely summer this year by the long-range weather forecasters. I’m look forward to the bright, warm evenings and to a successful and dynamic year for the TSA.
With best wishes
Jane Spink CEO
Tea and Scones for TSC information packs will be available shortly and will include scone recipe ideas,
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Our new logo
Dig beneath the surface
Helping others to see the progressive charity we have now become
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Some thoughts from Robert Minter at the Design Consultancy DigOnline who worked with the TSA on revising our visual identity.
t the end of 2012 we said a fond farewell to our original TS logo. It had served us well for more than three decades.For many of us the two red letters were a familiar part of the story of our families over many years.
During those years the TSA has changed. The amazing work and fundraising of the founding families has led to great break-throughs in research and to the provision of a range of professional services and support, both for people with TSC and for those who care for them. The TSA has moved from being run from front rooms to employing staff. With that transition has come the need to comply with all sorts of legislation about proper governance, safety and welfare.
not stand out well when placed alongside the logos of other charities online.
Having made the decision to adopt a new visual identity, we were fortunate that Tudor Reilly, the
In the wider world much has changed too. We have witnessed many phenomenal technological advances, including the advent of the Internet, DNA testing and MRI scanners. Perhaps less welcome is the change of funding culture. Every idea or organisation that looks to government or trusts for charitable funding now has to actively compete with others who are chasing the same scarce resources.
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The new logo is ours and we own the copyright. It says that we are the TSA and that means the Tuberous Sclerosis Association. It also contains a visual reminder of the nature of the condition our charity has been created to tackle. The ‘a’ of ‘tsa’ subtly incorporates an ash leaf. This is because one of the potential visible signs that a person has TSC is the presence of light areas of skin in the shape of an ash leaf. This design feature elegantly distinguishes us from all the other organisations which share our initials. Interestingly, the ash itself is an increasingly rare and precious tree, which has a battle of its own to fight though we did not know this at the time the logo was designed.
Jayne’s brief to us was to bring TSA’s image up to date, design a new logo with full visual identity guidelines and then to build and host a beautiful, useful and informative website.
Charities like the TSA are all about the people, and the existing brand, while perfectly serviceable, was to us a little sterile, perhaps lacking in warmth. Red, the primary colour of the old logo, is generally used as a
warning so this was changed to the green - a much softer and more welcoming colour.
We introduced the Ash leaf into the ‘A’ to give some identity with TSC, as most of you will know that a visible part of the disease is similarly shaped to the leaf of the Ash tree. Last of all the typeface was changed to a more friendly one to complete the transformation.
We are extremely pleased that the branding has been received with the warmth it has. We now look forward to an exciting future providing agency support to all our new friends at the TSA!
So our new logo enters service to help bring us all together and to give an updated message about who we now are. It is designed to make life easier for us as we do all that we can to provide support for today and a cure for tomorrow for those with Tuberous Sclerosis.
It has become important that we have a visual identity that helps others to see us as the progressive organisation we now are. We need to come across as a modern, competent and easily recognisable charity with potential funders and supporters of our work. In a highly competitive and visual world we now need to make our voice louder and clearer. Our old logo could no longer do this job for us.
Firstly, our UK TSA did not “own” the logo; rather we shared it with four other European TS charities. Secondly, the logo really only said who we are to those who already knew about the TSA. Finally, its design, from a pre-digital era, did
market value of their services. They worked with a sub-group of the Board to produce new logo options that were crisp, modern and distinctive. The Board chose the most outstanding.
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e have had previous experience of working with the third sector and patient groups so were perfectly placed to make an informed and valuable contribution.
healthcare PR company who are working with us on a no-fee basis, recommended the services of Rob Dallas and Rob Minter at the design company DigOnline. The two Robs agreed to help for a fraction of the
We hope you will find that the relaunched SCAN, our new web-site and our new information products help you to get the help and information you need more easily. We hope too that our new logo will help start creative conversations about the TSA and the nature of the condition we seek together to cure.
Martin Short Trustee
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Jeans for Genes Day
TSA joins up with a charity that helps the 30,000 children born every year with a genetic disorder
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he TSA is delighted to be working with Genetic Disorders UK / Jeans for Genes.
An estimated 8,000 people in the UK are affected by TSC, and the Tuberous Sclerosis Association currently only has four Advisers to cover the whole area. As part of our plan to make our services more accessible to a wider group of TSC individuals and families, we are looking to increase the number of volunteers, including those who work with families at a local level. To do this, we need to begin by putting in place a Volunteer Co-Ordinator who will organise the development and support of local volunteer networks to promote the wellbeing of those affected by TSC. We are delighted to announce that Genetic Disorders UK/Jeans for Genes have agreed to fund this post for the first year.
Properly managed volunteers will be an extremely valuable asset to the TSA. Our new Volunteer CoOrdinator will support the recruitment, retention and recognition of volunteers throughout the UK. We will be working over the summer months to identify the ways in which volunteers can help the TSA increase its reach and impact. The Volunteer Co-Ordinator will take a lead on matching potential volunteers to roles on the basis of interests, skills, and location and also to the amount of time they are able to commit. A wider network of volunteers will also allow the TSA to extend its reach and raise awareness amongst those currently not accessing our services, for example, minority groups and those still undiagnosed. We are extremely grateful to Genetic Disorders UK/Jeans for Genes for their support and will be telling you more about how you can get involved in our volunteering programme and Jeans for Genes Day on October 4th in the next issue of SCAN.
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Latest news on Votubia
UK Launch of Votubia® to treat Renal Angiomyolipomas (AML)
n November 2012, Votubia® (the registered name for everolimus tablets) were approved by the European Medicines Agency (EMA) for the treatment of adult patients with AMLs who are at risk of complications. Two months on from that approval, in January of this year, Novartis launched the product for sale here in the UK.
AMLs affect up to 80% of people with TSC. Small AMLs cause few problems but over time they may grow large enough to cause life-threatening complications that then require emergency surgery. In the EXIST-2 clinical trial 97% of patients taking the drug had a stabilisation of growth or reduction in the size of their AMLs. In 80.3% (four out of five) patients the shrinkage was by more than 30% by 48 weeks. Votubia® is not a suitable treatment option for everyone who has AMLs. If you would like to find out whether Votubia® might be a suitable treatment for yourself or a person with TSC who you care for, you should ask to be referred by your GP to a TSC clinic, kidney specialist or paediatrician.
If a referral is not practical or possible (because of distance or difficulty attending) you can ask your local Specialist to contact a TSC Professional Adviser for their opinion. The TSA’s own Advisers can also contact a Professional Adviser on your behalf to request advice for you. The TSA would like to see Votubia® made freely available on the NHS for those people for whom it is the best available treatment option. Unfortunately, even when a drug is licensed, a doctor cannot just prescribe it on the NHS unless funding has been agreed with the NHS managers.
The changes in commissioning in the NHS, which come into force in April 2013, are still being finalised and are likely to affect how drugs such as Votubia® are paid for. Unless and until such a time as decisions are taken about whether to fund Votubia® at a regional or national level, applications for funding will need to be made by the prescribing doctor on an individual patient basis.
Jane Spink CEO
The Janet Medcalf Memorial Award
is a personal grant of £300 drawn 3 times a year for anything that you feel would make a difference to you as a carer or person living with TSC. The deadlines for applications are: 1st April, 1st August and 1st December. For an application form, please visit our website: www.tuberous-sclerosis.org or contact Chris Johnson.
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fter a normal pregnancy, Jo Staples was approaching the birth of her first child with the usual excitement when, on 14th February, 2009, her unborn daughter gave her the first sign that things were not as expected.
The baby’s movements were so reduced that the midwife referred Jo to hospital where, having identified that the baby had an irregular heartbeat, Jo was asked to attend for a 30 minute heart monitor every morning.
A couple of weeks later, doctors explained that they would like to induce the baby and on 10th March Olivia was born, two weeks early. Although scans detected nodules on her heart there was no mention of TSC at this stage. At six months Olivia began to have what Jo now knows were epileptic seizures but it took months for her to be able to convince her doctors to investigate the problem. When they did nodules were also discovered on Olivia’s brain and TSC was diagnosed.
Jo was told that it was not certain whether Olivia would ever walk or talk and went away determined not to look anything up on the internet for fear of what more she might read. Jo said: “I was scared to death of what I might find out and so I buried my head in the sand.” As time went on Olivia’s seizures continued, always
changing, always varying from minor absences to falling to the ground with full body stiffness or convulsions. Eventually Olivia was given medication for her seizures but to date this has not stopped the problem. Last year a consultant at Jo’s local hospital in Nottingham, mentioned the TSA to her again and she plucked up courage to contact her TSC Adviser. Several phone calls and a home visit later, Jo was feeling much more secure. She said: “My TSC Adviser gave me really helpful information to read, explained how to use the TSA website and outlined the sort of monitoring Olivia should be having. I now feel so much better supported and less alone, knowing I can always call on her if I have a question that needs answering. It’s been really reassuring.” Olivia is now awaiting a referral to the TSC Specialist Clinic in Liverpool where, among other things, her kidneys will be scanned. Another prospective hospital appointment for Olivia is to Birmingham where she is being assessed to see if surgery on her brain will be helpful. Jo has been frustrated by the lack of specialist medical care near to hand and even the daunting experience of visiting Olivia’s GP to find out he hadn’t researched TSC and knew less than the family about
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Olivia Valentine’s Surprise
I’d tell anyone in my situation not to be scared to ask questions
the condition. However she is determined to do whatever it takes for Olivia to receive the treatment she needs; particularly now she is empowered with good information. Jo said:
“If it’s beneficial for Olivia I will travel anywhere.” Olivia is developing well and receives excellent support at school, although Jo finds it a struggle to get her to concentrate for very long on tasks such as learning her numbers or letters. However she has no problems with mobility or speech. Olivia’s passion at present lies in films and this budding film buff loves nothing better than watching her favourite DVD’s.
Jo has taken the decision not to have genetic counselling as she knows that finding out that she has TSC would not alter any future decisions she might
make, such as whether or not to have more children. For the moment the focus is on Olivia and helping her to concentrate on her numbers and her colouring and to support her through any surgery that might be needed. Having only recently become a member of the TSA, Jo is keen to attend events and have an opportunity to talk with other people who are going through similar experiences to her. She said:
“It would be great to meet people who you don’t have to explain everything to. People often look at me as if I’m making up what is wrong with Olivia because they haven’t heard of it.” Knowing what she knows now, Jo is certain that if she could go back to her early months and years with Olivia, she would do things differently.
She said: “If I started again I’d be pushier to make sure everything is being done to help Olivia and I’d be on the TSA website and in touch with my Adviser from the start. I’d tell anyone in my situation not to be scared to ask questions – the answer might not be as demoralising as you thought. It’s definitely better to be in possession of the right information.”
An introduction to TSC New TSA Patient Information Leaflet us Sclerosis Complex An Introduction to Tubero Suppor t Information and and support you. We are here to help d is that The first thing to understan disease. TSC TSC is a very complex differently, so affects all individuals one what you might read about his or impacts person and how TSC from different quite be may her life how it impacts your life.
to Tuberous An Introduction Sclerosis Complex
Introduction
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UK with TSC. babies are born in the TSC. Some very month around 10 people world-wide have r is that An estimated 1 million whilst others Another thing to remembe TSC very early in life affect an will be diagnosed with adolescence or different aspects of TSC until later childhood, times. the Tuberous may not be diagnosed individual’s life at differentconcerned has been produced by and individuals be adulthood. This booklet For example, you may those families help to newa (TSA) n in for them, to Sclerosis Associatio about the heart tumours those professionals caring been newly diagnosed, and born baby who has just person in TSC. a understand more about diagnosed with TSC, but need to be a person his or her 40s may only the various ways in which kidney benign In this booklet we describe As you read this booklet, it is concerned about the with TSC might be affected.that TSC varies from person to person tumours. to keep in mind features the important of all have not with TSC do a number of and that most people information on any Living with TSC can raise ies but you would like further find you If uncertaint . and s support please described challenge or would like advice or 8001, Derby about TSC over particular aspect of TSC much has been learnt Association, PO Box into the contact us: Tuberous Sclerosisosis.org. the last decade and research so active. confirm a diagnosis of TSC. DE1 0YA. www.tuberous-scler condition has never been reviewed or in newbeen heart tumours prenatally TSC Guidelines have in scientific onset of infantile spasms the TSC? the on is borns, based What Features of TSC and updated in ies that can lead experts. babies, a diagnosis of autism skin TSC is a genetic condition Several types of brain abnormalitSome evidence by worldwide of the body, nt of with TSC. children, the developme to growths in various organs may be seen in people are s or the onset of access the those most commonly affectedand will have all of these changes, problems in adolescent but people The TSA can help you skin It is However the information that kidney problems in adults. the brain, eyes, heart, kidney, be and others will have none. accurate and reliable affects also you need it. with TSC have important to know that TSC lungs. These growths may vast majority of people you need, as and when but they even and signpost ies. It is each individual differently, referred to as benign tumours cause The TSA can liaise with and help one of these abnormalit with they within a family. are not cancerous. When you to specialist services important to screen all individuals ding of of their monitoring problems it is mainly because body. TSC raise awareness and understan TSC then individualise the feature that is als. Examples in the can be There is no single clinical size and where they are TSC amongst profession plan so that any problems Instead, the can help absolutely specific to TSC. of the ways in which we growths have different names are treated should they arise. on a careful they include: diagnosis of TSC is based depending on which organ covers a n combinatio at TSC physical examination in found in. The severity of The TSC Guidelines (availableinclude at Published are so mildly • Supporting people attending with imaging studies (scans). wide range. Some people www.tuberous-sclerosis.org) als, school very few for should be meetings with profession diagnostic criteria exists affected that they experience what age people with TSC care and be more review meetings, health professionals to check against problems. Others may monitored and at what frequency processes and be present or in can become an abnormality meetings, complaints certain features need to severely affected and this depending on whether als diagnosis adulthood. including and health care profession specialist hospital visits combination to have a definite TSC TSC queries apparent in childhood or is present and at what size, liaising with social services NHS and to of ded. Advisers regarding complex schools number Medical • Helping individuals small recommen dation, A al of TSC. what actions are living accommo with our Profession possible the UK. TSC • Liaising on your behalf sessions to staff in residential homes, supported clinics exist throughout It is important to know the from areas of the d areas • Providing TSC awarenessnurses where appropriate Guidelines provide guidance effects of TSC on different Cortical Tubers are disorganise cells as similar situations. abnormal professional staff such TSC Specialists on the screening, body and to follow the es and meet others in of the brain that contain regional support groups and of different by an MRI scan • Helping set up local information, share experienc monitoring and treatment recommendations for screening and are best visualised gatherings to exchange Guidelines may have • Holding events and aspects of TSC. but allTSC (see the TSA evaluating of the brain. Some people on request others may have al Advisers is available monitoring and treatment Profession screening, on TSC several tubers whereas and clinics TSC performed help tubers may scientific references, TSC). These guidelines The specific tests that are one or none. Although these over References: A list of TSC by the TuberousofSclerosis osis.org rers with individual who the published of rous-scler scans parents/ca age on TSC”, and the see ls to on to www.tube on depend become easier ns n from “An Introducti is held on our website this publication. professiona and may after a Adapted with permissio n user review group who contributed to identification of complicatio . This is suspected of having TSC the early time, no new tubers develop Acknowledgements: editions are welcomed thanks to the TSC informatio Suggestions for improvement in future include the following: to ensure prompt and effectivefindings child is born. Alliance (USA). With that January 2013 First Edition. from its publication. treatment. Thanks to research Researchers used to think on Publication & Review: the imaging) were caused by be reviewed two years please improved medical care, • MRI (magnetic resonance and with cover the cost neurological difficulties information booklet will TSC can expect you would like to help scan of the brain, majority of people with n free of charge but if a combination of: osis.org y) scan of a normal life tumours TSA provides this informatio • CT (computed tomograph to live healthier lives with donation: www.tuberous-scler number and position of a The 0YA. Supporting the TSA: The make to DE1 Derby website of our PO Box 8001, the lungs liver and kidneys, expectancy. (tubers) in the brain visit the fundraising section order to Tuberous Sclerosis Association, kidneys, of onset and postal • Ultrasound scan of the d. Or send a cheque or The types of seizures, age heart, will be greatly appreciate be controlled going tois • Echocardiogram of the Diagnos Anything you can give whether the seizures can correct at the time of for diagnosed in n in this publication is s have done • Eye examination to look People with TSC may be However, as researcher ensure that informatio may change. made every effort to ies of the retina, , and policy and practice of investigation, during has become clear that the is course abnormalit omissions the work, Disclaimer: We have or more errors any ultraviolet liability for with specific caused by the • Skin examination under print. We do not accept treatment for problems molecular abnormalities screening of lead to light, organs or during genetic TSC mutation can directly Registered in and/or Limited by Guarantee • Genetic testing to diagnose Association is a CompanyToad Hall, White Rose Lane, Woking, Surrey family members. For example, of The Tuberous Sclerosis finding No: SC042780 2900107. Registered Office: England & Wales No: Scottish Registered Charity diagnosis may follow the
A GU22 7LB. Registered
Charity No: 1039549
Comments from the review panel:
“… excellent, as concise as possible yet informative, a well balanced first introduction to TSC.
“….clear and understandable without being ‘blinded’ with medical terms and causing confusion in what must be a very stressful situation for anyone encountering this for the first time.”
s Jo and Olivia's story illustrates, being told that you or your child has TSC can cause a range of feelings that can be difficult to cope with. As many of you would agree from your own experiences, being given lots of information all in one go can be too much to take in.
the Information Standard is our promise to you that the health and social care information we produce is evidencebased and of high quality.
A lot of information about TSC, such as that you might find on the Internet, comes without any guarantee that it is trustworthy or accurate. It may also be irrelevant to you personally and give a misleading impression. The TSA is committed to producing information that you can trust. This year we have applied for certification under the Department of Health’s Information Standard. Adopting
You can download the new information from the TSA website or get in touch if you would like a hard copy posted to you. If after reading the leaflet you have comments or suggestions for improvement, please do let Fiona McGlynn (see back page for contact details) know so that we can take these into account for future editions.
We know that learning more about TSC early on can help people begin to feel more in control and more secure about the future. This is why the TSA has produced a new leaflet called "An Introduction to TSC". The leaflet contains bite-sized information aimed at those with a new diagnosis.
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Olivia Valentine’s Surprise cont...
We are committed to producing information that is clearly written, accurate and reliable. A user panel of TSA members has reviewed “An Introduction to TSC”. The panel identified improvements we could make to our draft and helped us to ensure that the information is helpful, relevant and easy to understand.
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A bright future
more months of discussions and a gruelling five hour hearing, they won their case. Karen said:
“Sam’s school understand him better now – if sometimes he can’t sit with the rest of the class, they let him have some time working in a quiet area by himself – a simple solution, but one that makes such a difference.”
Warm welcome from the Wright family
Their son Sam was diagnosed with TSC when he was just 7 months old, and from that point, their lives changed. At two and a half doctors were struggling to control his frequent seizures; Sam’s sister was just starting school; his nursery was refusing to accept him anymore due to his condition and, with a business to run, it would have been easy for the family to give up. Instead, they got to grips with the overly complex world of Special Educational Needs and the myriad of associated Local Authority departments. After several months Sam was awarded a Statement of Special Educational Needs (often just called a Statement) which ensured some support was provided for Sam to attend nursery, and a degree of normality returned to the Wright household. When Sam went on to start school, Karen and David were concerned he would struggle with social skills, and participation in activities such as PE. Indeed it soon became apparent that he was experiencing difficulties at school. Issues with Sam’s behaviour were raised by the school, but this behaviour wasn’t in evidence at home. Despite the support at school provided by Sam's Statement, it was proving difficult to find solutions that worked for him, and to find techniques that allowed him to learn to his full potential. Then one evening, Karen saw a programme about an organisation called “Brainwaves” * and decided to contact them to see if they could help
Sam. Soon Karen and David were taking their son to a Brainwaves centre for a two day assessment.
She uses the analogy of a bucket in describing Sam's sensory overload:
The assessment revealed that Sam had problems with sensory processing – put him in a busy environment and he became stressed and confused, as he was unable to focus on anything. To him everything he was seeing or hearing was equally important. It also showed he had
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weakened core muscle tone – the reason he couldn’t stand on one leg, hop or ride a bike, but more importantly also why he struggled to write for more than a few minutes and couldn't sit on the floor with the rest of his classmates. Karen said:
He recently went to a noisy streetdance party with 20 children and participated with all the moves
“We now knew that Sam couldn’t respond to simple instructions at school because the noise in the classroom stopped him focusing on the teacher and that his muscle tone problems made sitting upright on the floor more than he could cope with.”
Knowing why Sam reacts in the way he does has made a huge impact, as it has allowed the family and Sam’s school to put measures and procedures in place to help him. Brainwaves recommended that Sam needed Occupational Therapy with sensory integration for education and, after the Local Authority initially refused, Karen and David went to tribunal to fight for this. Following several
*Brainwaves is an independent organisation and has no affiliation to the TSA
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“Sam might be nearly full, or half full when he arrives at school – school are learning what his parameters are and that he has to learn to selfregulate his behaviour to avoid reaching the point where the bucket overflows!”
“I now feel I can share my story, and I hope it will encourage others to feel positive about their children’s future. Now I know there are answers, and as parents, we can make a difference.”
Sam's weekly visits to an occupational therapist who specialises in sensory integration have helped with his sensory and spatial awareness issues as well as his fine and gross motor skills. Karen said:
“He recently went to a noisy streetdance party with 20 children and participated with all the moves –last Christmas he would have become frustrated, upset and had to go home. He was refusing to do PE at school at that time because he found it so hard to co-ordinate his body, but things have gradually improved.”
As a result of the tribunal, Sam’s Local Education Authority have also been required to involve a number of specialists in Sam's development on a regular basis, along with funding sports equipment which helps with his weakened core and leg tone issues, and his classmates use this equipment alongside him.
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alk into the Wright family home and you will instantly feel this is a friendly and vibrant place – Karen and David Wright offer a warm welcome, but it is only when you sit and listen to their story that you come to appreciate what a struggle it has been for them to get to where they are now.
school environment, whether with teachers, pupils or parents. She has put together a resource for schools, to help children appreciate their classmates who might behave “differently.” This was used in Sam’s school and there has been a marked change in the attitude of the other children towards him. She is also writing a book about her experiences. She said:
Continued P21
Karen is delighted with Sam’s progress and is passionate about changing attitudes within the
I
TSA funds new post
Help with developmental assessments through new post in Cambridge
ntroduction: In response to issues faced by
many members, as highlighted in Sam’s story [above] The TSA is delighted to have agreed funding for a new post based at Addenbrookes Hospital in Cambridge for a Clinical Psychologist to work with TSC patients to provide developmental assessments and support in determining the necessary care and treatment.
Background to the post:
When Consultant Clinical Psychologist, Dr Ayla Humphrey came to Cambridge in 1999 to work in developmental psychiatry under Professor Patrick Bolton she was able to set up an infant clinic and developmental assessment service via the TSC Clinic in Cambridge thanks to some funding from the TSA. Here she worked alongside fellow TSA Professional
Advisers, Professors Patrick Bolton and John Yates until they moved on.
The Cambridge TSC Clinic focused on seeing newly diagnosed children and establishing the role of developmental assessments in identifying TSC-related issues. From this they would link patients with teaching support staff and other local professionals who could provide appropriate support for these children as they developed. For many children, for example those who had not developed epilepsy, these assessments were vital in picking up developmental problems as early as possible as they might otherwise not have been seen. The team also worked on a number of research projects looking at the early development of children with TSC, some of which are continuing today, such as the TS Cohort Study which emerged out of this work.
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TSA funds new post cont... However over time the scope of Dr Humphrey’s interests have increased, which has had an impact on the time she can devote to this area. This coupled with a desire to make sure there was sufficient succession planning, led her to approach the TSA with a proposal for a new post. She said: “I thought it was important to identify younger people to take up an interest in TSC and to begin to pass on the knowledge that has been built up over many years.” Her approach coincided with considerations underway in the TSA about how to respond to member concerns over limited access to developmental assessments and the decision was taken to fund a post in this field at Addenbrookes for three years.
Dr Ella Rands, a Clinical Psychologist who for the past couple of years has been working in child development with children with complex neurological needs was duly appointed and she will take up her post in March, 2013.
How the post will work:
Dr Rands will work full time in clinical services at Addenbrookes hospital. The TSA is funding one day a week of her time and the remainder will be divided between working with children with Neurofibromatosis Type II - a condition which links to TSA in the sense that it is a genetic condition for which there are also relatively few centres which specialise in its management - and working in general paediatrics and neurology – another synergy with TSC.
One bonus of the breadth of this role is that it addresses a current shortage of young psychologists who have exposure to genetics across a wide range of disorders. This post will allow Dr Rands to identify similarities and analyse how different disorders might fit together. As the post is new, the exact nature of how it will work will evolve over time as Dr Rands and the team assess the demand from and needs of patients. However she will work as part of the team at the Cambridge TSC Clinic where she is likely to see mainly newly diagnosed children to offer them an initial developmental assessment.
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For families who come under the local area, the team will continue to work with them directly to implement and deliver the treatments and services that have been determined to be right for them.
I thought it was important to identify younger people to take up an interest in TSC
Newly diagnosed children from outside the Cambridge and Peterborough area are welcome to be referred to Dr Rands for developmental assessments after which she will determine what interventions each child is likely to benefit from and link them up with those services in their local area. All of this should be much easier to achieve with the psychological assessments which Dr Rands will be able to provide.
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Speech Therapy and Children with TSA
Dr Rands will be working alongside Dr Sally Benson, Lead Consultant Clinical Psychologist in the Department of Paediatric Clinical Psychology at Addenbrookes.
Dr Benson said: “This post is a wonderful opportunity to incorporate different expertise within the Addenbrookes TSC team and a chance to consider how best to meet the psychological needs of families and the specific role of psychological assessments and interventions in achieving this.” Evidence gathered by Dr Rands could have significance on a national basis by providing other centres with evidence on the psychological needs of children with TSC. It will also be useful in developing evidence of what psychology can offer as part of a multi-disciplinary team which could provide a useful model for other teams across the UK.
The Future:
Dr Humphrey plans on arranging a lengthy induction and handover period so that Dr Rands can capitalise on the wealth of experience and expertise in understanding and managing TSC already generated by other professionals working in this area.
The audit part of the post will also feed into a demonstration to the NHS Trust of the positive impact of the post and that it should be established as a permanent post once the TSA funding has come to an end after three years.
Services provided by the Cambridge TSC Clinic
• Clinical Genetics advice • Developmental and cognitive assessments • Educational advice • Consideration of the impact on families of TSC • Management of complex epilepsy • Screening for complications of TSC in at risk individuals • Mutation testing for TSC1 and TSC2 Enquiries and referrals can be directed to:
Dr Alasdair Parker, Consultant Paediatric Neurologist, Child Development Centre, Box 107, Addenbrooke's Hospital, Cambridge, CB2 2QQ UK Tel +44 (0)1223 216662 Fax +44 (0)1223 242171
Dr F L Raymond, Reader in Neurogenetics, Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome Trust/ MRC Building, Addenbrookes Hospital, Cambridge CB2 0XY, Tel +44 (0)1223 762609, Fax +44 (0)1223 331206
TSA member Annemarie Cotton reports the outcome of her recent research project as part of her studies to become a Speech and Language Therapist
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nnemarie’s nine-year-old daughter, Esme, has TSC and Annemarie recently graduated from Manchester Metropolitan University with a BSc in Speech Pathology and Therapy. She is grateful to her family and friends for helping her get through the three years of juggling study, family and commuting. Annemarie is now really enjoying working locally for the NHS as a children’s Speech & Language Therapist. The development of speech and language skills in children with TSC is not an area that has been studied a great deal by researchers. There is, however, evidence that for some children with TSC language skills may not follow the usual pattern of development. It seems that difficulties with speech and language skills may happen in children with TSC who have intellectual
a Speech and Language Therapist (SLT). For children with TSC there are guidelines which outline suggested ages for assessment of language and communication skills. These guidelines are published by the TSA as ‘Intellectual and Behavioural Developmental Problems in Preschool Children with TSC’ and as the Consensus Clinical Guidelines for the assessment of Cognitive and Behavioural issues in TSC, see Table 1: As well as being the parent of a child with TSC I am studying to be a Speech & Language therapist. I recently carried out a small research project as part of my studies. I investigated whether children were being referred to see an SLT at the ages suggested in these guidelines and was also interested in who was making the referrals. I found out this information by sending out short surveys to parents with children with TSC
Table 1: Suggested language and communication skills assessment areas for children with TSC.
Stage/age of assessment
I year – 1 year 6 months
Toddler (1yr – 2yr 11mth)
Intellectual & Behavioural Developmental Problems in Preschool Children with TSC General area to assess
Speech, language & communication skills
Pre-school (3yrs School entry)
Early school years (6-8yrs)
Middle school years (9-12yrs)
impairment as well as those who do not. Children with TSC may also have a diagnosis of Autistic Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD), epilepsy or learning difficulties. These conditions can impact on language skills in any child and so may also impact on language skills in children with TSC.
The healthcare professional who assesses and provides therapy for language and communication difficulties is
Consensus clinical guidelines (de Vries et al., 2005)
General area to assess
Social-communication skills Receptive & expressive language, Socialcommunication skills, Attentional-executive skills
Receptive & expressive skills, Social communication skills, Memory, Attentional-executive skills
Receptive and expressive skills, Memory, Attentionalexecutive skills whose ages were between those covered by the guidelines (age 1 year to 13 years). Twenty people completed the surveys and I analysed the results using some basic statistical methods such as finding average numbers of children referred and percentages of referrals made by different professionals. Although the project only had a small number of participants the information on the surveys showed that the group of children studied were similar as a group to the group of children studied in The TSC 2000 Cohort
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Study (Yates et al, 2011), a much larger research project. In both groups the percentage of children with epilepsy and the average age at which the children were diagnosed were similar. This suggests that the results of my study may be applicable to a wider group than just those who completed the survey.
What did I find out? The majority of those who replied had been referred to SLT services, but initial referrals were often made when the child was older than the age recommended in the published guidelines. All respondents who had been referred for SLT had a diagnosis of epilepsy as part of their TSC and the majority had a diagnosis of learning difficulties. Referrals were generally made by paediatricians followed by health visitors, parents, school staff and finally GPs who made the fewest referrals.
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As well as being the parent of a child with TSC I am studying to be a Speech & Language therapist
have any language or communication problems when they were very young and so a referral to an SLT was not thought necessary. It is important however to note that professional assessment by an SLT at an early age may be needed to pick up communication difficulties that have not been noted by parents or other professionals.The results suggest that it is not only paediatricians who refer the children for SLT assessment but also Health Visitors, GPs, school staff and parents. Out of the twenty children involved in the study, 19 had epilepsy and 15 had learning difficulties. All of these children had been referred to see an SLT. This might suggest that there is a link of some kind between a child having epilepsy or learning difficulties and them having speech and language difficulties. However there would need to be a larger study to investigate any possible link as in a small study like this that result could just have been coincidental.
You may want to take along a copy of the TSA’s ‘Guidelines for the assessment of cognitive and behavioural issues in TSC’ and, depending on the age of your child, a copy of ‘Intellectual and behavioural developmental problems in preschool children with TSC’ when you go to see the SLT.You can download and print these from the TSA website, or ask your TSC Adviser for hard copies. This information will be useful for your SLT who may not have had any direct experience of working with children with TSC. I am very grateful to the parents who took the time to complete a survey and also to the Tuberous Sclerosis Association for their enthusiasm and support in helping publicise the study and gain access to participants. I am also grateful for the support and guidance of my project supervisor, Julie Philips. Annemarie Cotton
de Vries, P.J., Humphrey, A., McCartney, D., Prather, P., Bolton, P., Hunt, A., & the TSC Behaviour Consensus Panel, (2005) Consensus clinical guidelines for the assessment of cognitive and behavioural problems in Tuberous Sclerosis. Eur Child Adolesc Psychiatry 14: 183-190TSA (2006) Fact Sheet 37 (updated 2010): Intellectual and behavioural developmental problems in preschool children with Tuberous Sclerosis.Tuberous Sclerosis Association: BirminghamYates, J.R.W., MacLean, C., Higgins, J.N.P., Humphrey, A., le Maréchal, K., Clifford, M., Carcani-Rathwell, I., Sampson, J.R., Bolton, P.,The Tuberous Sclerosis 2000 Study Group, (2011) The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Archives of Disease in Childhood 96(11): 1020-1025
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T
his year is a big year for Katie Vaughan, just turned 16 and about to face the majority of her GCSEs.
Staff at Ysgol Gyfyn Gwyr in Gowerton were therefore shocked to be told in March 2012 that Katie’s tumour was growing back and that surgeons wanted to remove it before it became dangerous and Katie started to suffer significant symptoms. Katie and her parents were able to explain how TSC can affect the body and the nature of Katie’s surgery. Her tutor at the time, Jonathon Thomas, and science teacher Paula Davies responded with the news that they wanted to support Katie by nominating the Tuberous Sclerosis Association for their summer charity fundraising. Katie’s friends and teachers set out enthusiastically on a series of events, the proceeds of which totalled nearly £3,000.
What you can do? If you have any worries about how your child is communicating then you could contact your local SLT service yourself and ask for an appointment. Alternatively you could ask your doctor, health visitor or child’s school/nursery to do this.
Why might this information be useful? If a child is experiencing difficulties with their language and communication skills a referral to an SLT could result in specific individualized advice for that child and their family. The results of this study suggest that although children are being referred for assessment by an SLT this is often not happening until they are older than the guidelines recommend. This may mean that those children who are having difficulties may not be getting the help they need as early as they could. The study did not show why these early referrals may not be happening. It is possible that parents and professionals are not aware of the guidelines or the potential benefits of referring to an SLT when the child is very young. It is also possible that the children in this study were not perceived to
References
With a little help from Katie Vaughan her friends
Probably the greatest challenge most of her school friends will have faced in their lives so far. However for Katie, who last summer managed to take five GCSE exams only weeks before major surgery to remove a TSC-related brain tumour (a subependymal Giant Cell Astrocytoma (SEGA))and then returned to school in September and asked to take her Maths GCSE early, 2013 probably seems like a walk in the park! On top of this Katie now has a lot of A grades in the bag and has coped with her ordeal remarkably well.
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One of Katie’s friends, Lucy Furlong, raised over £100 herself
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Speech Therapy and Children with TSA cont...
Activities included a non-uniform day; a sponsored walk and a cricket match between staff and ex-students as well as a 40-mile ultra marathon completed by teacher Nick Howell. One of Katie’s friends, Lucy Furlong, raised over £100 herself and the accountancy firm Ashmole and Co (Katie’s dad Rob is a partner) added an additional £1,000 to the cause as well as giving their support to the family while Katie was in hospital. Katie and her family have been overwhelmed by the way their community rallied to support them and to help the TSA support many others. They are also deeply touched and very grateful for all everyone has done for them.
When Katie’s exams are over this summer, she will no doubt be delighted that this time her celebrations don’t include plans for a trip to hospital.
Equally remarkable is the way in which her school and wider community joined together to support her, and by association the TSA, when they heard the news of Katie’s operation. Katie lives in Fforest near Pontarddulais in Wales. She has two sisters, Bethan (17) and Emma (13) and her mum is Lorraine. Katie’s Dad, Rob, is Treasurer of the TSA and partner in an accountancy firm.
Katie has already had one difficult patch back in 2009 when she had 95% of a SEGA removed. 18 months later she developed epilepsy for the first time. After four months spent trying to obtain an official diagnosis, medication was prescribed, which has proved to be successful in treating the problem. Unsurprisingly, the teachers at Katie’s school, not quite understanding the nature of TSC, thought that her problems were over.
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Fundraising News Christmas Fund Raising
A big thank you to everyone who bought Christmas cards, downloaded the Christmas Quiz and took part in the National Raffle, all of which helped us to raise over £4,000
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t Scarborough North Cliff Golf Club, Club Captain John Titley has chosen the TSA as the charity for the year. They have already raised nearly £900.
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ianne Rouse raised funds throughout last year by hosting craft workshops and selling her handmade items to raise funds for the TSA. She has raised £1,200.
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rian Price donated £300 from the sale of household items and jewellery belonging to his beloved late wife Jean Marie.
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hanks to Madeleine and Rob Evans for £761, raised from the proceeds of a sweepstake on the length of speeches at their wedding in January!
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ary and Chris Flanagan raised £40 from selling an item on Ebay.
If you want to fundraise by getting rid of your unwanted stuff, get in touch with Emma in fundraising (see rear cover for contact details) and she will talk you through how it all works..
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atthew Harker raised funds throughout 2012 and donated £226.
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O
ur thanks go to everyone who has worked hard to raise funds for the TSA over the past months. Here is a selection of some of your initiatives….
The ladies from Kedleston Park Golf Club are celebrating having raised £3,648.22 in a year of fundraising for the TSA in support of eight-yearold Thomas Oldknow, who has TSC and is grandson of club member, Kath Oldknow. The club raised funds throughout the year with activities ranging from an antiques evaluation day, a Bridge competition, to coffee and sales mornings and numerous donations and individual contributions.
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Fundraising News
0-year-old Ben Smith’s family took part in the Ipswich Big Fun Run and raised over £100 for the TSA. Ben’s mother, Linda ran along with Ben’s cousins Sarah and Jonathan and Jonathan’s partner, Heidi.
Linda said: “It was a very wet morning but we ran the course for the TSA like troopers.
Ben was delighted that everyone had made such an effort for him and the team are looking forward to running again next year.”
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Club Captain Judith Walker described how they decided to raise funds for the TSA:
“When I was trying to think of a deserving cause to be our charity for the year, Kath approached me about the TSA and explained that her grandson has TSC. After doing some research I felt it was a very deserving cause and that we should try to raise awareness of the condition as well as funds.” At a celebratory lunch in the autumn of 2012, attended by Thomas’ mother Jenny Oldknow, representatives from the TSA,Tom and Anne Carter and new Community Fundraising Manager Emma Damian-Grint accepted the cheque from the ladies team.Thomas’ mother Jenny said:
“I am absolutely thrilled to bits that they chose to support Thomas’ charity, the TSA. It means so much to me as the TSA has helped us from day one of Thomas’ diagnosis. The level of support we have received has been incredible and we always try to give something back when we can.”
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aul Ritchie raised funds by racing in Hell Runner, a mud-filled endurance challenge. Even though the run was much harder than Paul had anticipated Paul met both the targets he had set himself.
He completed the run in just less than three hours, considerably less than his four hour target and far from coming last he came in at 1631 out of 1690. Paul is pictured with his son Logan who was diagnosed with TSC at eight months old. Logan is a lively little boy who loves nothing more than climbing around his Granddad’s tractors and is doing well at nursery. Logan had life-saving surgery for a cancerous tumour in his kidney when he was just ten and a half months old – a condition not connected to his TSC but which might not have been picked up in time without the standard TSC checks. Logan is having treatment to control facial seizures and awaiting speech therapy but otherwise he is doing very well and proud of his intrepid father. Far from being put off by three hours struggling through mud, Paul plans to undertake the Hell Runner again next year.
atricia Little continued to raise funds for the TSA last year through various activities at the caravan site she runs and sent a cheque to the Annual Conference for £446. Instead of charging for extras on her caravan site, such as late check out and having visitors, Patricia asks people to donate to the TSA. The charity is close to her heart as her niece, Rebecca Wood has TSC. Rebecca herself gets involved with the fundraising every year, when she bravely stands up and calls out the winners to a raffle held at an annual fireworks party for regular customers of the caravan site.
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nthony and Eileen Webber celebrated their 50th Wedding Anniversary and asked all people buying gifts to give to the TSA. £250 was donated by family and friends in support of their daughter Susan (44) who has TSC. Susan, who was not diagnosed until she was 18 due to very minor symptoms, has received what the family describe as ‘wonderful care’ from the team at at the TSC Clinic in Bath who have helped Susan with problems with tumours in multiple organs and epilepsy.
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im and Cinthia Barton kindly donated £120 towards TSC research. P19
Fundraising News T
rent Bridge Rotary Club which has often supported the TSA over the year recently raised £250 from a Charitable Bonfire Event.
currently under investigation by doctor's for suspected TSC, were comforted to understand a little about the disorder having read information leaflets which Lily's mother, Clare, gave out at performances to help raise awareness. Looking forward, Tony is considering a wages holiday to benefit the TSA from his haulage company - a great idea for other self-employed would-be fundraisers!
Virgin London Marathon
2013 looks set to be a great year for long distance fundraising About me:
I’m Dr Anurag Saxena. I am a Paediatric
Neurologist, currently working at the Institute of
Medical Genetics in Cardiff on the TRON study. The TRON study is looking at effect of the drug
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Everolimus on memory and problem solving skills in
hanks also go to the following: Paul, Sarah, Shaun and Alan and all the customers at Hoddom Castle in Dumfriesshire who held a family fun day and raised £1,410.45 for the TSA.
people with TSC. Everolimus is a drug called an
mTOR inhibitor – (similar to Rapamycin). Memory and thinking problems are common in people with
TSC, however these problems are sometimes only
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S
arah Currie, who has TSC, raised £1464 in 2012 through boot sales and card sales helped by her local horse riding club. Sarah is pictured presenting a cheque to CEO Jayne Spink at last year’s Annual Conference.
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ony Robinson presented a donation of £1,000 to the TSA at the Annual Conference. Tony's granddaughter Lily (7) has TSC and her whole family is very active in supporting the TSA. Lily, who has tumours in her brain and kidneys, has thankfully been very mildly affected by TSC. In the past 18 months the family lost both Lily's Great Uncle and her Grandmother (Tony's wife) but managed to make something positive come out of their sadness as both estates made significant donations to the TSA. Lily's uncle Darren Robinson is planning to run the London Marathon for the TSA this year and her school selected the TSA to benefit from collections at their 2012 Christmas performances. An additional bonus from this was that another family at the school, whose daughter is P20
hen Stuart Skinner was approaching his fortieth birthday, he decided it was time to do something to get fit. He was talked into doing a Triathlon by a trainer at the gym and opted to raise money for charity through it as well. Over the course of his training Stuart lost a magnificent four stones and also managed to complete the challenge of a 400 metre swim; 23 km bike ride and 5k run in 1 hour 20 minutes, well under his target of 1 hour, 45 minutes. Stuart has got the bug now and is planning another triathlon at double the distance. He was supported all the way by his seven-year-old daughter and inspiration, Francesca who has TSC. Francesca has had epilepsy since she was 10 months old and was initially very badly affected by the medication she was given to treat it.When her dosage was reduced, Francesca returned to her old self within weeks and since then her epilepsy remains reasonably well controlled and she has grown into a bright little girl, barely affected by her TSC.
really noted by family members or friends.
The TRON study is now looking for volunteers with TSC aged 16 – 60 years. If you have TSC and
have reasonably controlled epilepsy or no fits at all
and are willing and able to participate in memory
and thinking tests, please contact the TRON trial team directly. I would be happy to clarify your
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r Anurag Saxena, who features on our front cover, is a paediatric neurologist in Cardiff working alongside Professor Julian Sampson on research into TSC. He is running the London Marathon for the first time this year.
He is trying to rigidly stick to his training regime, despite the snow and his hectic work schedule. He is in the first month of training and has not yet got to running high mileage so his main problems so far have been blisters.
Dr Saxena has been advised that if he sticks to the regime, he should at least be able to finish the course which is his key objective. Dr Saxena has been working with patients with TSC for years in his capacity as a paediatric neurologist but this is his first year of full time TSC research.
queries about the TRON study. Everolimus is
already known to help with the kidney and brain
growths in TSC and this study will help us find out if it can help more people with TSC.
Why run for TSA?
Working with families and individuals having TSC is
inspirational. While working on TRON TSC will be my
exclusive focus, but for affected families the
challenge of TSC is life-long. The TSA is a huge support to these families. Why now?
I shall be older next year. Acknowledgments
I am grateful to the TSA to give me the
opportunity to run my first Marathon. I hope to complete it in one piece. Tel: 02920746412
Email: tron@cardiff.ac.uk
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Fundraising News S
ix-year-old Emily Kate Jackson from Whitley Bay was the focus of fundraising at Whitley Bay Playhouse when her sister Alice (10) and auntie Alisar Taylor took part in performances of Sound of Music and raised £300 for the TSA through bucket collections.
Forthcoming Fundraising What’s up next in this coming year’s calendar
Emily Kate was diagnosed with TSC when she was just 17-months-old after abnormalities were discovered and an MRI scan revealed three non-malignant growths on her brain.
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usband and wife team, Sian and Chris Lugg are running the London Marathon this year for Sian’s three-year-old nephew, Dylan, who was diagnosed with TSC before he was born. Despite the concerns and stresses over Dylan’s health problems over the past years, the family are enjoying time with gorgeous and lively Dylan. Sian describes Dylan and her brother and sister-in-law as ‘an inspiration to us all’. She continues; “We feel that running a marathon, although a massive task, is the least we can do to try to raise money for the TSA to go towards research and support for the families.” Pictured in her new TSA T-shirt, Sian is a big fan of the new colours! She and Chris are managing to juggle their training regime with the demands of bringing up their three very young children. They are training four times a week and so far have succeeded in increasing the distances they run in line with their training plan which means the 26 miles isn’t looking quite so daunting. Support Sian and Chris at www.justgiving.com/Sian-Lugg3 Other TSA runners to support in April are Kerry O Halloran who has a niece, Isla, with TSC; Darren Robinson, uncle to Lily mentioned earlier; Jonathon Jacobs whose brother’s two children have TSC; Martyn Baxter whose nephew has TSC; Robert Baker and finally David Donovan whose good friend’s son has TSC. P22
Her mother Sarah said: “I would like to give a big thank you to Day 8 productions for allowing the fundraising. It is so important that money is raised for research into the condition in the hope that one day a cure may be found.”
Trusts
Grateful thanks to the following for their donations:
• Swann- Morton Foundation Trust - £500 • Ardwick Trust - £100 • Sylvia Aitken Charitable Trust - £2000 • The Khayami Foundation - £500 • The Murphy-Neumann Charity - £500
The Big Purple Charity Ball, Royal York Hotel, York 11th May 2013. £27 per ticket Includes hot buffet, entertainment and disco. This black tie (with a splash of purple!) fundraiser is hosted by our supporter Jo Dale and friends and will support the TSA, Epilepsy Sucks and Matthews Friends.
Contact Jo Dale for more information or to buy tickets on 07889131919 or at www.facebook.com/TheBigPurpleBall/info
Yorkshire 3 Peak Challenge 22nd June 2013
£35 per person Dust off those walking boots, rinse out those flasks and get those packed lunches ready! Join us for this new summer challenge event taking in some of the UKs most beautiful scenery, and make new TSA friends along the way.
We’ll be guided by a hiking expert as we attempt to summit 3 peaks in one 12 hour day. There are accommodation and full board options available, and this event can be suitable for youngsters and adults alike.
Get in touch with Emma (See Contacts page) to find out more or to book your space.
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THE CONFERENCE NEWS
THE CONFERENCE NEWS
Tuberous Sclerosis Conference - 28th November 2012
Tuberous Sclerosis Conference - 28th November 2012
INTRODUCTION
giant cell astrocytomas (SEGAs) in children, aged 318, and found that treatment with everolimus resulted in significant shrinkage of SEGAs. The findings of the study had resulted in a license for the use of everolimus for the treatment of SEGAs. The EXIST-2 trial, set up at around the same time, investigated the effects of everolimus on benign kidney tumours called Angiomyolipomas
people taking everolimus over long periods of time. The next big study will be EXIST-3, which will look at everolimus’ effects on epilepsy. The trial will be open to people aged 265 who have at least two seizures a week.
for the second phase of the study which will involve following up on families and children to chart and revisit physical complications, including SEGAs and AMLs, as well as behavioural and physical problems.
Dr Anurag Saxena rounded off the first session of research talks by speaking about the TRON study, which aims to recruit 48 participants to look at the effects of everolimus on neurocognitive problems in TSC.
Dr Kingswood also discussed diagnosis of infantile spasms and current studies into whether EEGs can be used for very early diagnosis.
(AMLs) in adults (18+). Dr Kingswood explained how the study had shown everolimus to be extremely effective at shrinking or stabilising AMLs and that it had improvements for some patients of their skin rash, neurocognition and in a minority of cases of their epilepsy.
The TS2000 study – Professor Patrick Bolton Professor of Child and Adolescent Neuropsychiatry London, Professional Adviser to the TSA and TSC Researcher and Dr Fiona McEwen, Project Coordinator TS2000 study.
The London-based research team will be offering home visits, for specialised assessments. Parents will be asked for interviews and to complete questionnaires, to get a detailed developmental history and find out about current behavioural problems. The children will undertake assessments to look at behaviour, development, social understanding, attention, and impulse control as well as some medical features. Unaffected siblings will also be asked to participate, as a way of providing a sample for comparison.
Study volunteers must be between 16-60 years of age, have fairly stable epilepsy that only occurs occasionally, and be able to sit through the quizlike tests and assessments. Two out of three volunteers will receive treatment with everolimus and one out of three will be given placebo (dummy drug). Volunteers will not know whether they have been given everolimus or the placebo during the study. Study volunteers will need to
On 28th November we welcomed over 250 delegates to the Bromsgrove Hilton in Birmingham for our 2012 Conference and AGM. Here, Pippa Goldenberg, daughter of our Chairman Philip, reports. The opening address was given by our Patron and longtime supporter, Nick Higham who is a journalist with the BBC. Nick spoke about the importance of raising awareness of TSC and the role that the media could play in helping us raise TSC up the agenda. The morning session provided a review of the past year and future plans as well as an overview of the current direction of research from the research bench through to the clinic. The session was rounded off with a ‘question time’ session, where a panel of experts answered questions from the audience.
inhibitor trial; and Dr Neil Walker led a workshop on skin and TSC. Our morning plenary session - TSC Research Dr Chris Kingswood, Consultant Physician in Nephrology at Brighton and Sussex University Hospital Trust, Professional Advisor to the TSA and Head of Research Strategy and Trustee, spoke about the progress in TSC. Giving a brief introduction about the discovery of both the TSC genes he then presented information about the two main trials for TSC treatment in recent years: the EXIST-1 and EXIST-2 trials, both of which looked at the safety and effectiveness of the drug everolimus. The EXIST-1 trial looked at the treatment of subependymal
Dr Kingswood emphasized the importance of follow-up for
The AGM took place during lunch break and was followed in the afternoon by a series of interactive workshop sessions for which delegates split into smaller groups; parents of younger children, adults and carers of adults with TSC. Professor Chris Oliver and Dr Kate Eden led a workshop focusing on autism and challenging behaviour; Dr Chris Kingswood, focused on kidneys and TSC, but also included information from Sam Amin on a new mTOR
Professor P4atrick Bolton spoke to the conference about the background and progress of the TS2000 study, which was set up to look at the way that problems, such as epilepsy and learning difficulties in TSC, emerge during development. The study is longitudinal (over time), and it is the first of its kind in TSC. The first phase of the TS2000 recruited newlydiagnosed TSC patients over a five-year period, beginning in 2001. As well as collecting data about when any problems emerge the study also examined the care that people were receiving, and how this might be improved. Dr Fiona McEwen, who will be co-ordinating the TS2000 team, spoke about the plans
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Dr McEwen has asked anyone who has been involved with the study before to please let her know if your contact details have changed and, if you can, keep a record of investigations, medical letters and test results as much as possible. To contact the TS2000 team: E-mail: ts2000@kcl.ac.uk Phone: 020 7848 5272 Website: www.tuberoussclerosis2000.co.uk The TRON study – Dr Anurag Saxena, Paediatric Neurologist who works alongside Professional Advisor, Professor Julian Sampson in Cardiff
THE CONFERENCE NEWS
Tuberous Sclerosis Conference - 28th November 2012 visit the University Hospital in Cardiff, eight times over a 40 week period. If you are interested in volunteering for the study you are invited to contact Dr Saxena: E-mail: tron@cardiff.ac.uk New directions in lab-based research Kicking of the second plenary session, Dr Andy Tee, Senior Lecturer in Cancer Genetics at Cardiff and Professional Research Adviser to the TSA, discussed the history of research into TSC and explained what goes wrong in TSC cells. In 1993-1997 good communication and coordination between families, clinicians and geneticists led to the discovery of genes TSC-1 and TSC-2. At around the same time it was discovered that rapamycin – an immunosuppressant used in kidney transplants, to prevent rejection of the new organ – inhibited mTOR, a key component in cell growth. In 2002, research showed that the TSC genes affected mTOR signalling, stopping mTOR from being turned ‘off’. When mTOR is turned ‘on’, it drives cell growth, particularly fat cells and blood vessels, which then lead to AMLs among other things. In healthy patients TSC-1 and TSC-2 work together to turn off mTOR when the cell no longer needs to grow. But in patients with TSC, TSC-1 and TSC-2 are faulty and cannot interact properly, leading to extra cell growth. This then led to the theory that rapamycin – which
had been shown to turn off mTOR, even when TSC-1 and TSC-2 are faulty – would be a suitable treatment drug, leading to successful trials. The session was then handed over to Dr Kayleigh Dodd, Research Associate at Cardiff University. Dr Dodd gave us a fantastic overview of the research techniques and methods that are used to make these discoveries and find new and better ways to treat conditions. She described how cells can be grown outside the body in sterile conditions in bottles containing a liquid containing all the components they need for growth and survival and that the cells are kept in incubators set to 37 degrees (body temperature). The living cells can then be manipulated and tested, to see how they work and what treatments work best. The team are investigating what else TSC-1 and TSC-2 affect within the cell and how any other problems they cause might be treated. They have already discovered that a protein called HIF, which is important for cell growth, is present in very high levels in “TSC cells” and theorise that HIF could be a potential target for future drugs.
WORKSHOP 1
Autism and Challenging Behaviour with Professor Chris Oliver, Professor of Neurodevelopmental Disorders, University of
Birmingham and Dr Kate Eden, TSA Research Fellow Professor Chris Oliver provided an overview of the research being carried out and focussed on two of the most difficult behaviours, self-injury and aggression. The main challenge for behavioural research is to understand
difficult behaviour in people with learning disabilities, and to then come up with practical support and practical interventions that can be made available to everybody. While it’s well understood how genes affect physical qualities, the influence of genes on behaviour is much less well understood. This is because our behaviour is influenced by not only by our genes but by a complicated array of environmental factors. P26
THE CONFERENCE NEWS
Tuberous Sclerosis Conference - 28th November 2012 Dr Kate Eden spoke briefly about her recent research into the behaviours of children and intellectually disabled adults with TSC, the results of which showed that around 27% of children showed self-injury, and 50% showed aggression and that around 30% of adults with an intellectual disability showed self-injury, and 40% showed aggression. The research showed that challenging behaviour may often be an indication that the individual might is in pain, or that there might be an underlying health problem that needs investigating. Professor Oliver then took the floor again to explain why this might be the case. When someone experiences pain, it sends a signal up to a certain part of the brain constantly. We may be able to ease pain simply by “rubbing it better” because in doing so we create a different signal to the brain that blocks out the pain signal. If we create a different sensation, such as a different pain elsewhere in the body, this can also block the signal. This is called “pain-gating” and it goes some way to explaining how living with pain can lead to self-harming In terms of identifying discomfort and pain, there are five behavioural signs: FLACC, which stands for face, legs, activity, crying, and consolability. Face means two lines down the middle of the forehead, a universal sign for pain and discomfort; legs are a lot more active when people are in pain; activity levels generally go down when P27
people are ill; crying speaks for itself; and consolability, which is the critical sign, where the behaviour doesn’t change no matter what is done. Professor Oliver also spoke about how TSC patients and parents can get caught in a loop, where the challenging behaviour becomes a form of communication that elicits a desired response from the parent or carer. For example, self-injury prompts the carer to provide comfort, so the patient does it every time they want comfort, and then the carer continues to provide it to stop the self-injury. This can reinforce challenging behaviours, and if possible, it’s best to take a step back, view the behaviour as a form of communication, and perhaps modify the response to avoid self-injury when possible.
trial, named MiTS, tests the effectiveness of a drug called metformin which is an mTOR inhibitor, in the treatment of AMLs. Metformin is currently used for the long-term treatment of type-2 diabetes.
Professor Oliver has resources that have been developed to help deal with these sorts of problems for Cornelia de Lange syndrome which could be useful to parents and carers of people with TSC.
All scans need to be taken either at the Bath TSC Clinic or at another clinic which is willing to participate in the trial. To find out more contact:
If you would like a copy please e-mail: C.Oliver@Bham.ac.uk
WORKSHOP 2
Kidneys and TSC, with Dr Chris Kingswood Dr Sam Amin, Paediatric Neurology Research Associate working with Dr Finbar O'Callaghan in Bristol, opened the session by outlining a new trial about to take place in the Bath and Bristol area. The
To participate in the trial, individuals need to be aged between 10 and 65 years, be diagnosed with TSC, and have at least one AML with a diameter of 1 cm or more. They cannot have diabetes; their kidney and liver function should be normal; they need to be stable, and shouldn’t have any heart or lung problems or be pregnant or breastfeeding. The trial will be looking at the size of AMLs and whether metformin has any effect. It will also involve blood tests, MRI scans, and assessments of epilepsy, cognition and quality of life.
sam.amin10@bristol.ac.uk Phone: 01225 824218 Website: www.bristolcns.org Dr Chris Kingswood then took the floor, summarising the problems and treatments specifically relating to kidneys before answering questions from the audience. Dr Kingswood described how AMLs occur in 80% of people with TSC and also explained that 5% of TSC patients have Polycystic Kidney Disease (PKD) as well as TSC, and 1% of people with TSC will
THE CONFERENCE NEWS
AND WHAT DID THE CHILDREN DO? What we did: We had a very full day, and we were all flagging by the end of it! Activities included many and various games and crafts; and talking and sharing time, which included the ways in which TSC affects their sibling (related to a fun time when we drew round our bodies), and how this impacts on the young people who were in our group.
Tuberous Sclerosis Conference - 28th November 2012 eventually get kidney failure. TSC patients are also more likely to develop renal (kidney) cell cancers and tumours, and experience higher blood pressure than those who do not have TSC. Until recently, the main treatment option for AMLs had been embolisation. Less invasive than surgery to remove the AML, this treatment nonetheless causes pain and requires a hospital stay. For patients with AMLs with an aneurysm greater than 5mm embolisation is probably optimal treatment. Clinical trials have shown that AMLs respond very well to mTOR inhibitors. They stop growing, stabilise and shrink offering an alternative medical (drug) treatment for some patients. Dr Kingswood reflected on results from the MILES study which looked at treatment of growths in the lungs (LAM) in which the drug rapamycin was shown to completely prevent worsening of the condition while the patients took it. However this then declined when the drug was stopped. This is similar to the situation with mTOR inhibitors and the treatment of AMLs - they begin to grow when medication is stopped.
WORKSHOP 3
Skin and TSC with Dr Neil Walker, Consultant Dermatologist in Oxford and Professional Adviser to the TSA. Dr Walker spoke about the causes and formation of the
characteristic facial rash in TSC, as well as the available treatments and variation in funding and services depending on where you live. The extra mTOR in TSC causes the growth of the soft tissues that create fibromas and it also stimulates blood vessel formation that causes the red element of the facial rash. Patients vary in terms of the appearance of the rash: some will have mostly fibromas; some will have large red patches from the blood vessels, and most will be somewhere in between. Treatments for the facial rash include electrosurgery, cryotherapy, chemical peeling, dermabrasion and shave excision. The treatments where new developments are still being made involve a range of lasers, including argon/copper vapour lasers for heating blood vessels and reducing angiofibromas; carbon dioxide or erbium lasers, used for peeling off layers of skin and evening out fibromas; flash lamp pumped dye laser, used for treating portwine stains and the blood vessels in angiofibromas; smooth beam laser, where the skin is cooled first and then the laser heats the layers beneath the surface without creating burn wounds on the surface itself.
expectation that finding funding will likely be made more difficult with the changes in the NHS that come into force in April 2013. He emphasised that the services for facial rash treatment will vary depending on the local area, and different specialists will have access to different lasers and different treatments, and have different preferences for treatment. We would like to thank all our presenters and delegates for making the 2012 conference such a successful event. If you would like to read the full report of the 2012 conference please visit the web-site and download a copy or get in touch if you would like us to print and send a copy to you by post.
There were special crèche facilities available to look after and entertain all children who attended the conference. Below is a report on the special sessions run during the conference for siblings of children with TSC. Why we had a young siblings group for the day: As an organisation in regular contact with families, we are well aware of the concerns many parents and carers have regarding the needs of their children who do not have TSC. Sometimes, those in families who do not have TSC are called ‘unaffected’, but it would be inaccurate to say that brothers and sisters (siblings) of children and young people with TSC are ‘unaffected’.
Practical implications included: having less attention from parents; being bullied at school; not getting enough sleep and exhaustion; difficulty getting homework done; not being/feeling able to have friends round to the house; possessions being damaged; having no personal space or time.
The sibling’s comments: The children evaluated their day and comments included (reproduced here in their own words): • ‘I enjoyed meeting children who are going through the same as me, and I enjoyed all the craft’ • ‘I would have liked it more if we were in separate age groups and if more people came’ • ‘I had a great time’ • ‘I enjoyed everything!’ • ‘I liked it that I was able to talk and meet new people. Also I wasn’t forced to do anything. As well I could share my worries.’
We used the role of a magazine ‘agony aunt’ to identify what young people could do about both practical needs and feelings.
What can we do as parents? Please consider giving your child opportunity to join the siblings group next year.
Strategies included: talking to a parent about your feelings or writing a letter to your parent; your parents rotating time between the sibling with TSC and yourself – for example one week your dad has his time for you
Look at the Sibs website for more information and contact them if that would be helpful www.sibs.org.uk phone 01535 645453. Sibs have an information sheet for young people about TSC.
The siblings shared feelings of: Isolation; confusion; frustration; embarrassment; getting annoyed and feeling angry; stress and worry (including for their parents).
Most siblings cope very well with their childhood experiences and sometimes feel strengthened by them. We know that giving siblings the chance to talk things over and express feelings and opinions can go a long way to help them deal with worries and difficulties that are bound to arise from time to time.
See also www.youngcarers.net – part of the Carers Trust (in Scotland: The Princess Royal Trust for Carers) There may be a Young Carers Group near you. See www.youngcarer.com We would love to hear from you about your thoughts for a similar event next year. Please let Fiona McGlynn, our Head of Support Services know at Fiona.mcglynn@tuberoussclerosis.org or phone 0121 445 6970.
With this in mind, the TSA contacted Sibs (www.sibs.org.uk), the only UK charity representing the needs of siblings of disabled people, and asked them to help us to organise an event for children and young people.
CONFERENCE FUNDRAISING
We wanted to give young “TSC siblings” opportunity to meet other young “TSC siblings”, to have time to talk and ask questions, and to have fun. We are grateful to Sibs, and in particular a huge thanks to Nicola, for organising and leading this day for us. Who came: We had 13 children and young people join us, from the ages of 7-14, fairly evenly dispersed across this age range.
Dr Walker spoke about the difficulties in finding funding for treatment, and of his P28
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In the evening of the conference there was a fundraising dinner in honour of Anne Carter’s retirement. It was a great success. whilst your mum spends time with your sibling, and vice versa; going to a Young Carers Group; asking for counselling at school or having an identified adult at school you can go to; having a card to show other teachers so you can leave the class to go to a previously-agreed room if you’re struggling.
Pictured is Chris Naylor presenting some flowers and a present to Anne from the Trustees, staff and some members. Speeches with tributes to Anne were made by Nick Higham who had spent the day dashing between the TSA and broadcasting for the BBC; Graham Harker and Dr Chris Kingswood.
Take part in Research 6 studies are looking for recruits
I
n the past, when membership forms were completed, we asked people what information they would like to receive from us.
Over the last few years research into TSC has increased and we want to make sure that those of you who want to hear, and possibly take part, know about it as soon as possible.We have not asked you for some time if you want to receive this information.
All of the research studies are led by a respected TSC researcher, many of whom are Professional Advisers to the TSA. All studies we help fund are carefully reviewed by the relevant ethical committees and the TSA.Your contact details are not passed on to any researcher; we forward their information to you. If you do go on to participate in a study, we ask that you let us know so we can update your membership record.
If you do not want to receive TSC research information like this in future you can let us know in a variety of ways:
1. Ring us on 01332 290 734 and ask us to take you off the research mailing list 2.Write to us at TSA, PO Box 8001, Derby DE1 OYA 3. Email us at chris.johnson@tuberous-sclerosis.org
A number of TSC research studies were presented at last year’s conference. For those of you who were unable to attend, we have included a summary of these in the following list of studies which are actively recruiting.We advise you to contact the research team (who are all very nice and approachable – as well as keen to hear from you!) for questions about their particular research study, including practical arrangements about visits and details of who is able to take part.
We also update our website www.tuberous-sclerosis.org with items of research news and research studies, and include summaries in Scan. We hope you find this information useful and please do not hesitate to contact either of us if you have any queries.
Fiona McGlynn Head of Development and Support Services Jane Cox Head of Research The TSA is currently supporting a number of studies financially*, and there are others where we have been approached specifically to help with recruitment. Either way - the success of the research depends on your willingness to take part.The following 6 studies are all looking for recruits.They cover a range of ages, locations, and aspects of TSC, so we hope you will find one which “clicks” with your own situation, and get in touch. Researchers from the University of Birmingham are currently recruiting participants to two different studies. Study 1: Social and communicative abilities in TSC* Who can take part? Children with TSC aged between 2 - 8 years
Why is this research being done? Research suggests that children with TSC are more likely to develop social and communication difficulties which can
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impact on their wellbeing and cause caregivers stress. Being able to identify those at risk early in life may aid early intervention strategies. Some differences in how children with such difficulties perceive and process information can be measured early in development using physiological measures such as EEG (a non-invasive method of recording electrical activity in the brain). Using EEG with children with TSC with and without social and communication difficulties could confirm whether the indicators suggested in past research differentiate these children.
What will it involve? Children will view images and/or listen to sounds while wearing an EEG cap.We will also carry out assessments of ability and you will fill out some questionnaires about your child.The study will involve visiting the university for between one and two days.You will receive an individualised feedback report about your child’s results.
Who should I contact to take part/for more information? Dr Lucy Wilde, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, 0121 414 3861 or wildelv@bham.ac.uk.
Study 2: Challenging behaviour in TSC* Who can take part? Children with TSC aged between 3 - 15 years who show challenging behaviour and have an intellectual disability.
Why is this research being done? Previous research has suggested that some children with TSC have increased risk of developing challenging behaviour (self-injury/aggression/property destruction). This can be difficult both for those showing the behaviour and those who care for them.We would like to understand more about this type of behaviour in TSC and what factors might be related to it.
What will it involve? We will carry out assessments of your child’s challenging behaviour and their level of ability.You will be asked to fill out some questionnaires about your child.This will involve a one or two day visit to the university, or we can visit you at home if more convenient.You will receive an individualised feedback report about your child’s results.
Who should I contact to take part/for more information? Dr Lucy Wilde, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, 0121 414 3861 or wildelv@bham.ac.uk. Kings College London TS 2000: Phase 2*
Who can take part? Families who have previously taken part in TS 2000 Why is this research being done? TS 2000 is the first large-scale, long term study that we hope will help us understand how and why different complications arise in TSC.We are following 125 children and young people with TSC, to test how different risk
factors act together to determine outcome. For example, during Phase 1 we found that children who have TSC2 (versus TSC1) mutation tend to develop more cortical tubers, leading to more severe epilepsy, which increases the risk of intellectual impairment. During Phase 2 we will focus on behavioural difficulties, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD).
What will it involve? We will offer home visits to do in-depth assessments for ASD and ADHD, intellectual development, and daily living skills, as well as tests of social understanding, impulse control, planning, and thinking styles.We’ll ask parents to complete an interview and questionnaires and children/young people to do some paper and computer based tasks, like games and puzzles. If a child/young person is found to have significant problems then we can write a report for their doctor. Who should I contact to take part/for more information? Dr Fiona McEwen/Dr Charlotte Tye, PO 80, Institute of Psychiatry, 16 De Crespigny Park, London, SE5 8AF; 020 7848 5272; ts2000@kcl.ac.uk; http://www.tuberoussclerosis2000.co.uk
Cardiff University - TRON* (a clinical trial of Everolimus in the treatment of neurocognitive problems) Who can take part? People with tuberous sclerosis aged 16-60 if they: Have no seizures (fits) at present or do have seizures but have not changed their epilepsy drugs in the 6 months before starting the trial AND Are able to participate in the memory and thinking tests (This will be assessed before starting the trial, but people with severe learning difficulties will usually not be able to take part).
Why is this trial being done? Recent trials have shown that Everolimus is effective in shrinking kidney growths (angiomyolipomas) and brain tumours (SEGAs) in many people with tuberous sclerosis. This trial will explore whether the drug is also effective for some of the major common effects on tuberous sclerosis on the brain – thinking and epilepsy. What will it involve? Participants will come to the University Hospital in Cardiff 8 times over almost 40 weeks. However, some people who wish to take part may not be able to do so if we find certain health problems at the first visit.The TSA have provided funds to cover travel costs for this and, if required, overnight accommodation costs for volunteers and a family member/carer. There is a 2 out of 3 chance of being treated with Everolimus and a 1 out of 3 chance of being treated with placebo (inactive “sugar pill”).Volunteers will have medical checks including blood tests, and complete tests of memory and thinking that are like quizzes and computer games. Who should I contact to take part/for more information? Dr Anurag Saxena, Clinical Research Fellow, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN Professor Julian Sampson, Clinical Professor of Medical Genetics, Institute of Medical Genetics, Cardiff University,Heath Park, Cardiff, CF14 4XN
Phone: 02920746412 / 02920687608 Fax: 029 20746551 Email: tron@cardiff.ac.uk Webpage: http://medicine.cf.ac.uk/cancergenetics/medical-genetics/our-research/tuberoussclerosis-and-mtor/clinical-trials/tron-trials-page/ Cardiff University - Genetic Causes of Tuberous Sclerosis Who can take part? Individuals with TSC who have undergone diagnostic testing and have not had a genetic mutation found in either of the genes which are known to cause TSC (TSC1 or TSC2).Where possible, we are also very keen to involve parents who are unaffected themselves, but who have a son or daughter with TSC for which a genetic cause cannot be found. By involving unaffected parents in this study we will be able to compare the genes of related family members to help to find a genetic cause for TSC. Why is this study being done? The Institute of Medical Genetics, Cardiff University has set up this project which hopes to further understanding of the genetic causes of Tuberous Sclerosis (TSC).
This project is using ‘next generation’ technologies which are not currently used in diagnostic testing for TSC.We hope to identify mutations in TSC1 and TSC2 that have escaped detection by current testing methods.We are also searching for new genes which may cause the symptoms of TSC.
Who should I contact to take part/for more information? Laura Thomas: thomasl41@cardiff.ac.uk, or (02920) 687859 Royal United Bath (Tuberous Sclerosis Clinic) Metformin in Tuberous Sclerosis Complex (MiTS) MiTS study open for recruitment. In this research, we are investigating whether the drug Metformin will help the body control cell growth and shrink the size of hamartomas (lumps) in TS patients.
What will it involve? People with tuberous sclerosis aged 10-65 years, who have one or more kidney angiomyolipomas (AML) of at least one centimetre in largest diameter . Study details: Metformin is a common medicine that has been used for many years in the treatment of diabetes. It has a good safety record.
Half of the people in this study will be taking Metformin, and half will be taking a placebo (a pill that looks the same, but has no medicine in it). Everyone takes their treatment for one year, and has six appointments (over 18 months) for assessments of their TSC. You would have scans of your kidneys and brain, photographs of any tumours on your face and fingernails, assessments of your epilepsy, of your learning, and how well you feel in yourself. Who should I contact to take part /for more information? Dr Finbar O’Callaghan: 01225 824218 Dr Sam Amin: 01225 824218 sam.amin.10@bristol.ac.uk Hannah Edwards: 0117 342 0160
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Your contacts at the TSA
O
ur four TSC Advisers are part time, covering a large geographical area. Depending on the situation we’re asked to help with, our face to face support may not always be possible because of our distance away from you.
If you call, please do leave a message as your adviser could be attending a meeting or supporting someone affected by TSC. As we’re not based in a central office, it will only be your adviser who hears your message. Irene Craddy works regularly on a Monday evening form 58.30pm so if phoning someone in the evening is more convenient for you please call her
Our help can include:
• Listening to you and finding out how TSC affects you and your family • Looking at ways of managing your care • Providing support to help you and professionals coordinate care for you or the person with TSC that you care for • Providing information about TSC • Suggesting other helpful organisations and services • Providing TSC Awareness training, education and information for health, social care and education professionals
CEO
Jayne Spink
is the Chief Executive of the Tuberous Sclerosis Association PO Box 8001, Derby DE1 0YA jayne.spink@tuberous-sclerosis.org 0208 690 2288
Fundraising Janet Brewer
Head of Fundraising is your contact for information on fundraising and giving to the TSA. Janet works 28 hours per week. PO Box 4538, Windsor SL4 9DP fundraising@tuberous-sclerosis.org 01753 842 362
Emma Damian-Grint
Community Fundraising Manager is your contact for information on fundraising and giving to the TSA. Emma works 21 hours per week. PO Box 4538, Windsor SL4 9DP fundraising@tuberous-sclerosis.org 01753 842 362
Research
Jane Cox is Head of Research, dealing with grants, liaison with reseachers and arranging TSA research conferences and meetings. She works 22.5 hours per week. Research Office, Sussex Kidney Unit, Royal Sussex County Hospital, BN2 5BE research@tuberous-sclerosis.org 01273 696 955 x3541
Support Services
Fiona McGlynn Head of
Development and Support Services, is responsible for the TSA support services (TSA member events, SCAN, the TSA Website, Study Days, TSA information leaflets and Support Services staff). She works 28 hours per week. PO Box 8001, Derby DE1 0YA fiona.mcglynn@tuberous-sclerosis.org 0121 445 6970
Chris Johnson Membership and Support Services Coordinator is the first point of contact for families and professionals, either assisting them personally or re-directing them to the relevant member of staff where appropriate. He works 21 hours per week. PO Box 8001, Derby DE1 0YA chris.johnson@tuberous-sclerosis.org 01332 290 734
Irene Craddy covers the West and East
Midlands, Yorkshire counties and the Humber, Eastern England. She works 21 hours per week. PO Box 8001, Derby DE1 0YA irene.craddy@tuberous-sclerosis.org 01283 711 083
Fiona Clark covers the North East and
North West England and Wales. She works 21 hours per week PO Box 8001, Derby DE1 0YA fiona.clark@tuberous-sclerosis.org 01625 427 872
Maureen Tossi covers Greater London, South East and South West England. She works 28 hours per week. PO Box 8001, Derby DE1 0YA maureen.tossi@tuberous-sclerosis.org 01865 865 089 Lynn Shields covers Scotland. She
works 28 hours per week PO Box 8728, Airdrie, Scotland ML6 8WP lynn.shields@tuberous-sclerosis.org 01236 608 257 - 07510 595 968
Tuberous Sclerosis Association is a Company Limited by Guarantee Registered in England and Wales No. 2900107, English Registered Charity No. 1039549. Scottish Registered Charity No. SC042780. Registered Office: Toad Hall, White Rose Lane, Woking, Surrey GU22 7LB www.tuberous-sclerosis.org