tsa scan magazine spring 2013
DESCRIPTION
TSA SCAN Magazine Spring 2013TRANSCRIPT
The Magazine of the TSAmagazineUK
Edition 101 - Spring 2013
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Our new look SCAN packed full of news and stories
Colour coded articles in this issue are:
Editorial Fundraising Research Support
In this Spring issue of Scan Magazine
9. Latest news on VotubiaUK Launch of Votubia® to treat Renal Angiomyolipomas (AML)
Diagnosed with an irregular heartbeat on Valentine’s day 2009
8.Jeans for Genes DayTSA joins up with an unusual charity
10. Olivia’s Surprise
11. An introduction to TSCNew TSA Patient Information Leaflet
20. A Wright bright futureA warm welcome from the Wright family
21. TSA funds new postTSA help with a new post in Cambridge
23. Speech TherapyTSA member Annemarie Cotton’s recent research project
A big year for Katie Vaughan
A round up of all of the recent fundaising for the TSA
25. Help from her friends
26. Fundraising News
12. Research - is now your chance?6 studies looking for recruits
7. Dig beneath the surfaceThoughts from Robert Minter
Best wished from Isobel McFarlane
6. Our new logoSee the progressive charity we have now become
9. A message from our CEOLatest updates and thoughts from Jayne Spink
8.Tea & Scones FundraiserTSA joins up with an unusual charity
2.ContentsWhat’s where in this edition of your SCAN magazine
3. A message from our Editor
14. Conference NewsA detailed report from the Tuberous Sclerosis Conference - 28th November 2012
Everything you need to get intough with all departments at the TSARear Cover. Your contacts at The TSA
A message fromour EditorIsobel McFarlane
Welcome to the first new-look SCAN with a freshdesign incorporating the TSA’s brand new visualidentity. In this edition you can read about why we
needed to change this and how it was done. We hope thechanges will make reading news from the TSA easier andmore enjoyable.
Featured on this edition’s front cover is TSC researcher Dr Anurag Saxenafrom Cardiff who makes a fitting, if rather embarrassed first ‘poster boy’ ashe brings together the strands of clinical practice, research and fundraising.Dr Saxena has been selected to run the London Marathon for us this year aswell as working full time on the TRON study. He also has years of experiencetreating people with TSC as a paediatric neurologist.
Once again I was privileged to attend the Annual Conference and put facesto names of many people who have kindly contributed to SCAN and theAnnual Report and with whom I’ve previously only been in touch via phoneor email. The conference was packed with really helpful presentations andso, as a reminder for those of us who attended and an explanation for youwho weren’t able to be there, we have included in SCAN a comprehensivereport of proceedings, expertly produced for us by Pippa Goldenberg. Aparticular highlight is her extremely clear layman’s description of howmTOR inhibitors work which certainly helped me make sense of thesecomplex scientific concepts.
Other contributors in this edition include Annemarie Cotton who gives usfeedback on her recent research project on Speech and Language Therapyand TSC as well as news of a new TSA-funded post in Cambridge and severalmembers sharing their experiences of life with TSC.
Many thanks to all contributors and please keep in touch.
With best wishes
Isobel McFarlane Editor, SCAN
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A message fromour CEOJayne Spink
Looking out from the window it's encouraging to see aglimmer of spring sunshine at last. We may be all toofamiliar with false starts with the weather, as much else,
but this is the welcome annual reminder that eventually thingsdo get better.
You are reading now the new-look SCAN designed in our new brand. Overthe year we’ll continue to pack SCAN with the types of stories and news thatthe readership survey told us members most want to read. We’ve alsolaunched our new website. We hope you’ll find this attractive, easy tonavigate and full of useful information. We look forward to receiving yourcontributions and comments as the site evolves.
Moving into the summer months we’ve an exciting programme of workplanned and we’ll be using the outcomes of our 2012 survey to guide us.We’ll be developing and updating our information products, working inpartnership with professionals and people living with TSC. We will also bedeveloping and launching a new online educational tool aimed at healthcareprofessionals, in particular those working in local hospitals and GP clinics.
At the end of 2012 the TSA Board agreed a new volunteering strategy and Iam delighted that we will be able to take this forward in 2013 and that wehave support in the form of a newly awarded grant from Genetic DisordersUK to help us.
We’re also looking to grow our research programme, funding more high-quality TSC research and proactively seeking funding partnerships tosupport this. We’ll be bringing you research news throughout the year,viaSCAN, emails and our new website.
We’re promised a hot and lovely summer this year by the long-rangeweather forecasters. I’m look forward to the bright, warm evenings and to asuccessful and dynamic year for the TSA.
With best wishes
Jane Spink CEO
May sees the launch of an exciting new TSAfundraising initiative: Tea and Scones for TSC,and we would love as many of you as possible
to get involved. The campaign will run during TSCAwareness Week (May 13-19) and we want individuals,schools, companies and community groups holdingscone bake sales and afternoon tea parties to raisemoney for families affected by TSC.
Here’s how you can help:Ask your child’s school if they will put a date in thediary w/c May 15th for a Tea and Scones for TSC event.It could be a simple scone bake sale or if children bakescones that week as part of their DT curriculum activity,they could ask family members for a contribution to theTSA when they take them home for eating!
Talk to your colleagues at work about organising a Teaand Scones for TSC event – tea and scones could beavailable for a contribution at a break time, or youcould go the whole hog and put on a full cream tea…
If you are part of a community group such as a WIgroup or retirement group, please ask them to include aTea and Scones for TSC event in their calendar for May,and if you would like to organise your own individualtea party, let your friends know an invitation will becoming their way.
And there will be a prize for the individual or groupwho holds their Tea and Scones for TSC in the mostunusual place – half the way up a mountain, in aswimming pool, on the top deck of a bus – just let yourimagination run riot!
The fundraising activity will form part of the TSCAwareness Week campaign, when we will be looking toraise awareness of TSC as a condition throughout theUK across all media. We will be looking for families totell their stories about living with TSC, largely in thepress, on radio and on video.
If you feel you can help by telling your story, pleasecontact Isobel, our SCAN editor –[email protected] would love to hear assoon as possible fromanyone willing so that wecan plan effectively, whetheryou are personally going toorganise an event around Teaand Scones for TSC or justhappy for your story to be told.
Tea and Scones for TSCinformation packs will beavailable shortly and willinclude scone recipe ideas,
fundraising ideas, a press release template and teaparty invitations.
If you would like to receive one of these packs, pleaseemail your name and address to [email protected] now to register yourinterest, and the pack will be mailed to you as soon asavailable (the packs will also be available to downloadfrom the TSA website).
You can really help us raise awareness of TSC andmake a difference, so let’s get baking!
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Dig beneath the surfaceSome thoughts from Robert Minter at the Design
Consultancy DigOnline who worked with the TSA onrevising our visual identity.
At the end of 2012 we said a fond farewell to our original TS logo. It had served us well for more thanthree decades.For many of us the two red letters were a familiar part of the story of our families overmany years.
During those years the TSA haschanged. The amazing work andfundraising of the founding familieshas led to great break-throughs inresearch and to the provision of arange of professional services andsupport, both for people with TSCand for those who care for them.The TSA has moved from being runfrom front rooms to employing staff.With that transition has come theneed to comply with all sorts oflegislation about propergovernance, safety and welfare.
In the wider world much haschanged too. We have witnessedmany phenomenal technologicaladvances, including the advent ofthe Internet, DNA testing and MRIscanners. Perhaps less welcome isthe change of funding culture.Every idea or organisation thatlooks to government or trusts forcharitable funding now has toactively compete with others whoare chasing the same scarceresources.
It has become important that wehave a visual identity that helpsothers to see us as the progressiveorganisation we now are. We needto come across as a modern,competent and easily recognisablecharity with potential funders andsupporters of our work. In a highlycompetitive and visual world wenow need to make our voice louderand clearer. Our old logo could nolonger do this job for us.
Firstly, our UK TSA did not “own” thelogo; rather we shared it with fourother European TS charities.Secondly, the logo really only saidwho we are to those who alreadyknew about the TSA. Finally, itsdesign, from a pre-digital era, did
not stand out well when placedalongside the logos of othercharities online.
Having made the decision to adopta new visual identity, we werefortunate that Tudor Reilly, the
healthcare PR company who areworking with us on a no-fee basis,recommended the services of RobDallas and Rob Minter at the designcompany DigOnline. The two Robsagreed to help for a fraction of the
market value of their services. Theyworked with a sub-group of theBoard to produce new logo optionsthat were crisp, modern anddistinctive. The Board chose themost outstanding.
The new logo is ours and we ownthe copyright. It says that we are theTSA and that means the TuberousSclerosis Association. It alsocontains a visual reminder of thenature of the condition our charityhas been created to tackle. The ‘a’of ‘tsa’ subtly incorporates an ashleaf. This is because one of thepotential visible signs that a personhas TSC is the presence of lightareas of skin in the shape of an ashleaf. This design feature elegantlydistinguishes us from all the otherorganisations which share ourinitials. Interestingly, the ash itself isan increasingly rare and precioustree, which has a battle of its own tofight though we did not know this atthe time the logo was designed.
So our new logo enters service tohelp bring us all together and togive an updated message aboutwho we now are. It is designed tomake life easier for us as we do allthat we can to provide support fortoday and a cure for tomorrow forthose with Tuberous Sclerosis.
We hope you will find that the re-launched SCAN, our new web-siteand our new information productshelp you to get the help andinformation you need more easily. Wehope too that our new logo will helpstart creative conversations about theTSA and the nature of the conditionwe seek together to cure.
Martin Short Trustee
Our new logoHelping others to see theprogressive charity wehave now become
We have had previous experience of workingwith the third sector and patient groups sowere perfectly placed to make an
informed and valuable contribution.
Jayne’s brief to us was to bring TSA’s image up to date,design a new logo with full visual identity guidelinesand then to build and host a beautiful, useful andinformative website.
Charities like the TSA are all about the people, and theexisting brand, while perfectly serviceable, was to us alittle sterile, perhaps lacking in warmth. Red, theprimary colour of the old logo, is generally used as a
warning so this was changed to the green - a muchsofter and more welcoming colour.
We introduced the Ash leaf into the ‘A’ to give someidentity with TSC, as most of you will know that a visiblepart of the disease is similarly shaped to the leaf of theAsh tree. Last of all the typeface was changed to a morefriendly one to complete the transformation.
We are extremely pleased that the branding has beenreceived with the warmth it has. We now look forward toan exciting future providing agency support to all ournew friends at the TSA!
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In November 2012, Votubia® (the registered namefor everolimus tablets) were approved by theEuropean Medicines Agency (EMA) for the
treatment of adult patients with AMLs who are at risk ofcomplications. Two months on from that approval, inJanuary of this year, Novartis launched the product forsale here in the UK.
AMLs affect up to 80% of people with TSC. Small AMLscause few problems but over time they may grow largeenough to cause life-threatening complications thatthen require emergency surgery. In the EXIST-2 clinicaltrial 97% of patients taking the drug had a stabilisationof growth or reduction in the size of their AMLs. In80.3% (four out of five) patients the shrinkage was bymore than 30% by 48 weeks.
Votubia® is not a suitable treatment option foreveryone who has AMLs. If you would like to find outwhether Votubia® might be a suitable treatment foryourself or a person with TSC who you care for, youshould ask to be referred by your GP to a TSC clinic,kidney specialist or paediatrician.
If a referral is not practical or possible (because ofdistance or difficulty attending) you can ask your localSpecialist to contact a TSC Professional Adviser fortheir opinion. The TSA’s own Advisers can also contact aProfessional Adviser on your behalf to request advicefor you.
The TSA would like to see Votubia® made freelyavailable on the NHS for those people for whom it is thebest available treatment option. Unfortunately, evenwhen a drug is licensed, a doctor cannot just prescribeit on the NHS unless funding has been agreed with theNHS managers.
The changes in commissioning in the NHS, which comeinto force in April 2013, are still being finalised and arelikely to affect how drugs such as Votubia® are paid for.Unless and until such a time as decisions are takenabout whether to fund Votubia® at a regional ornational level, applications for funding will need to bemade by the prescribing doctor on an individualpatient basis.
Jane Spink CEO
Latest news on Votubia®
UK Launch of Votubia® to treat RenalAngiomyolipomas (AML)
The Janet Medcalf Memorial Awardis a personal grant of £300 drawn 3 times a year for anything that you feelwould 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.orgor contact Chris Johnson.
The TSA is delighted to be working with GeneticDisorders UK / Jeans for Genes.
An estimated 8,000 people in the UK are affected byTSC, and the Tuberous Sclerosis Association currentlyonly has four Advisers to cover the whole area. As partof our plan to make our services more accessible to awider group of TSC individuals and families, we arelooking to increase the number of volunteers, includingthose who work with families at a local level.
To do this, we need to begin by putting in place aVolunteer Co-Ordinator who will organise thedevelopment and support of local volunteer networksto promote the wellbeing of those affected by TSC. Weare delighted to announce that Genetic DisordersUK/Jeans for Genes have agreed to fund this post forthe first year.
Properly managed volunteers will be an extremelyvaluable asset to the TSA. Our new Volunteer Co-Ordinator will support the recruitment, retention andrecognition of volunteers throughout the UK. We will beworking over the summer months to identify the waysin which volunteers can help the TSA increase its reachand impact. The Volunteer Co-Ordinator will take a leadon matching potential volunteers to roles onthe basis of interests, skills, and location andalso to the amount of time they are able tocommit.
A wider network of volunteers will also allow theTSA to extend its reach and raise awarenessamongst those currently not accessing ourservices, for example, minority groups and thosestill undiagnosed. We are extremely grateful toGenetic Disorders UK/Jeans for Genes for theirsupport and will be telling you more about howyou can get involved in our volunteeringprogramme and Jeans for Genes Day on October4th in the next issue of SCAN.
Jeans for Genes DayTSA joins up with a charity that helps the 30,000 childrenborn every year with a genetic disorder
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As Jo and Olivia's story illustrates, being told that youor your child has TSC can cause a range of feelingsthat can be difficult to cope with. As many of you
would agree from your own experiences, being given lotsof information all in one go can be too much to take in.
We know that learning more about TSC early on can helppeople begin to feel more in control and more secureabout the future. This is why the TSA has produced a newleaflet called "An Introduction to TSC". The leaflet containsbite-sized information aimed at those with a new diagnosis.
A lot of information about TSC, such as that you might findon the Internet, comes without any guarantee that it istrustworthy or accurate. It may also be irrelevant to youpersonally and give a misleading impression. The TSA iscommitted to producing information that you can trust. Thisyear we have applied for certification under theDepartment of Health’s Information Standard. Adopting
the Information Standard is our promise to you that thehealth and social care information we produce is evidence-based and of high quality.
We are committed to producing information that is clearlywritten, accurate and reliable. A user panel of TSAmembers has reviewed “An Introduction to TSC”. The panel identified improvements we could make to ourdraft and helped us to ensure that the information ishelpful, relevant and easy to understand.
You can download the new information from the TSAwebsite or get in touch if you would like a hard copy postedto you. If after reading the leaflet you have comments orsuggestions for improvement, please do let Fiona McGlynn(see back page for contact details) know so that we cantake these into account for future editions.
An introduction to TSCNew TSA Patient Information Leaflet
Comments from the review panel:
“… excellent, as concise as possibleyet informative, a well balanced firstintroduction to TSC.
“….clear and understandablewithout being ‘blinded’ with medicalterms and causing confusion in whatmust be a very stressful situation foranyone encountering this for thefirst time.”
References: A list of TSC scientific references, TSC
clinics and TSC Professional Advisers is available o
n request but all
is held on our website www.tuberous-sclerosis.org
Acknowledgements: Adapted with permission from “An Introduction to TSC”
, published by the Tuberous Sclerosis
Alliance (USA). With thanks to the TSC information user review group w
ho contributed to this publication.
Publication & Review: January 2013 First Edition. S
uggestions for improvement in future editions are welcomed. This
information booklet will be reviewed two years on from its publication.
Supporting the TSA: The TSA provides this information free of charge but if
you would like to help cover the cost please
visit the fundraising section of our website to make a donation: www.tube
rous-sclerosis.org
Or send a cheque or postal order to Tuberous Sclero
sis Association, PO Box 8001, Derby DE1 0YA.
Anything you can give will be greatly appreciated.
Disclaimer: We have made every effort to ensure that information in this publication is
correct at the time of going to
print. We do not accept liability for any errors or omissions, and policy and pr
actice may change.
Information and SupportWe are here to help and sup
port you.
The first thing to understand is that
TSC is a very complex disease. TSC
affects all individuals differently, so
what you might read about one
person and how TSC impacts his or
her life may be quite different from
how it impacts your life.
Another thing to remember is that
different aspects of TSC affect an
individual’s life at different times.
For example, you may be concerned
about the heart tumours in a new-
born baby who has just been
diagnosed with TSC, but a person in
his or her 40s may only need to be
concerned about the kidney benign
tumours.
Living with TSC can raise a number of
challenges and uncertainties but
much has been learnt about TSC over
the last decade and research into the
condition has never been so active.
TSC Guidelines have been reviewed
and updated based on the scientific
evidence by worldwide experts.
The TSA can help you access the
accurate and reliable information that
you need, as and when you need it.
The TSA can liaise with and signpost
you to specialist services and help
raise awareness and understanding of
TSC amongst professionals. Examples
of the ways in which we can help
include:
• Supporting people attending
meetings with professionals, school
review meetings, health care
meetings, complaints processes and
specialist hospital visits
• Helping individuals liaising with social services a
nd health care professionals
• Liaising on your behalf with our Professional Medical Advisers regarding
complex TSC queries
• Providing TSC awareness sessions to staff in resid
ential homes, supported living accommodation, schools and to
professional staff such as nurses where appropriate
• Helping set up local regional support groups
• Holding events and gatherings to exchange inform
ation, share experiences and meet others in similar situations.
The Tuberous Sclerosis Association is a Company Limited by Guarantee Registered in
England & Wales No: 2900107. Registered Office: Toad Hall, White Rose Lane, Woking, Surrey
GU22 7LB. Registered Charity No: 1039549 Scottish
Registered Charity No: SC042780
An Introduction to Tuberous Sclerosis Complex
What is TSC?TSC is a genetic condition th
at can lead
to growths in various organs of the body,
but those most commonly affected are
the brain, eyes, heart, kidney, skin and
lungs. These growths may also be
referred to as benign tumours but they
are not cancerous. When they cause
problems it is mainly because of their
size and where they are in the body. TSC
growths have different names
depending on which organ they are
found in. The severity of TSC covers a
wide range. Some people are so mildly
affected that they experience very few
problems. Others may be more
severely affected and this can become
apparent in childhood or adulthood.
It is important to know the possible
effects of TSC on different areas of the
body and to follow the
recommendations for screening and
evaluating TSC (see the TSA Guidelines
on screening, monitoring and treatment
of TSC). These guidelines help
professionals and parents/carers with
the early identification of complications
to ensure prompt and effective
treatment. Thanks to research findings
and with improved medical care, the
majority of people with TSC can expect
to live healthier lives with a normal life
expectancy.
DiagnosisPeople with TSC may be diagnosed in
the course of investigation, during
treatment for problems with specific
organs or during genetic screening of
family members. For example,
diagnosis may follow the finding of
heart tumours prenatally or in new-
borns, the onset of infantile spasms in
babies, a diagnosis of autism in
children, the development of skin
problems in adolescents or the onset of
kidney problems in adults. It is
important to know that TSC affects
each individual differently, even
within a family.
There is no single clinical feature that is
absolutely specific to TSC. Instead, the
diagnosis of TSC is based on a careful
physical examination in combination
with imaging studies (scans). Published
diagnostic criteria exists for
professionals to check against and
certain features need to be present or in
combination to have a definite diagnosis
of TSC. A small number of NHS TSC
clinics exist throughout the UK. TSC
Guidelines provide guidance from
TSC Specialists on the screening,
monitoring and treatment of different
aspects of TSC.
The specific tests that are performed
depend on the age of the individual who
is suspected of having TSC and may
include the following:
• MRI (magnetic resonance imaging)
scan of the brain,
• CT (computed tomography) scan of
the lungs liver and kidneys,
• Ultrasound scan of the kidneys,
• Echocardiogram of the heart,
• Eye examination to look for
abnormalities of the retina,
• Skin examination under ultraviolet
light,• Genetic testing to diagnose
and/or
confirm a diagnosis of TSC.
Features of TSCSeveral types of brain abnor
malities
may be seen in people with TSC. Some
people will have all of these changes,
and others will have none. However the
vast majority of people with TSC have
one of these abnormalities. It is
important to screen all individuals with
TSC then individualise the monitoring
plan so that any problems can be
treated should they arise.
The TSC Guidelines (available at
www.tuberous-sclerosis.org) include at
what age people with TSC should be
monitored and at what frequency
depending on whether an abnormality
is present and at what size, including
what actions are recommended.
Cortical Tubers are disorganised areas
of the brain that contain abnormal cells
and are best visualised by an MRI scan
of the brain. Some people may have
several tubers whereas others may have
one or none. Although these tubers may
become easier to see on scans over
time, no new tubers develop after a
child is born. Researchers used to think th
at
neurological difficulties were caused by
a combination of:
The number and position of tumours
(tubers) in the brain
The types of seizures, age of onset and
whether the seizures can be controlled
However, as researchers have done
more work, is has become clear that the
molecular abnormalities caused by the
TSC mutation can directly lead to
Every month around 10 babies are born in the UK with TSC.
An estimated 1 million people world-wide have TSC. Some
will be diagnosed with TSC very early in life whilst
others
may not be diagnosed until later childhood, adolesce
nce or
adulthood. This booklet has been produced by the
Tuberous
Sclerosis Association (TSA) to help those families and individuals
newly diagnosed, and those professionals caring fo
r them, to
understand more about TSC.
In this booklet we describe the various ways in whi
ch a person
with TSC might be affected. As you read this booklet, it is
important to keep in mind that TSC varies from person to person
and that most people with TSC do not have all of the features
described. If you find you would like further inform
ation on any
particular aspect of TSC or would like advice or sup
port please
contact us: Tuberous Sclerosis Association, PO Box 8001, Derby
DE1 0YA. www.tuberous-sclerosis.org.
An Introduction to Tuberous
Sclerosis Complex
Introduction
the condition. However she is determined to dowhatever it takes for Olivia to receive the treatment sheneeds; particularly now she is empowered with goodinformation. Jo said:
“If it’s beneficial for Olivia I will travel anywhere.”Olivia is developing well and receives excellentsupport at school, although Jo finds it a struggle to gether to concentrate for very long on tasks such aslearning her numbers or letters. However she has noproblems with mobility or speech. Olivia’s passion atpresent lies in films and this budding film buff lovesnothing better than watching her favourite DVD’s.
Jo has taken the decision not to have geneticcounselling as she knows that finding out that she hasTSC would not alter any future decisions she might
make, such as whether or not to have more children. Forthe moment the focus is on Olivia and helping her toconcentrate on her numbers and her colouring and tosupport her through any surgery that might be needed.Having only recently become a member of the TSA, Jois keen to attend events and have an opportunity to talkwith other people who are going through similarexperiences to her. She said:
“It would be great to meet people who you don’t haveto explain everything to. People often look at me as ifI’m making up what is wrong with Olivia because theyhaven’t heard of it.” Knowing what she knows now, Jo iscertain that if she could go back to her early monthsand years with Olivia, she would do things differently.
She said: “If I started again I’d be pushier to make sureeverything is being done to help Olivia and I’d be onthe TSA website and in touch with my Adviser from thestart. I’d tell anyone in my situation not to be scared toask questions – the answer might not be asdemoralising as you thought. It’s definitely better to bein possession of the right information.”
I’d tell anyone in mysituation not to be scaredto ask questions‘‘
‘‘
Olivia Valentine’s Surprise cont...
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After a normal pregnancy, Jo Staples wasapproaching the birth of her first child with theusual excitement when, on 14th February, 2009,
her unborn daughter gave her the first sign that thingswere not as expected.
The baby’s movements were so reduced that themidwife referred Jo to hospital where, having identifiedthat the baby had an irregular heartbeat, Jo was askedto attend for a 30 minute heart monitor every morning.
A couple of weeks later, doctors explained that theywould like to induce the baby and on 10th March Oliviawas born, two weeks early. Although scans detectednodules on her heart there was no mention of TSC atthis stage. At six months Olivia began to have what Jonow knows were epileptic seizures but it took monthsfor her to be able to convince her doctors to investigatethe problem. When they did nodules were alsodiscovered on Olivia’s brain and TSC was diagnosed.
Jo was told that it was not certain whether Olivia wouldever walk or talk and went away determined not to lookanything up on the internet for fear of what more shemight read. Jo said:
“I was scared to death of what I might find out and so Iburied my head in the sand.”As time went on Olivia’s seizures continued, always
changing, always varying from minor absences tofalling to the ground with full body stiffness orconvulsions. Eventually Olivia was given medication forher seizures but to date this has not stopped theproblem.
Last year a consultant at Jo’s local hospital inNottingham, mentioned the TSA to her again and sheplucked up courage to contact her TSC Adviser. Severalphone calls and a home visit later, Jo was feeling muchmore secure.
She said: “My TSC Adviser gave me really helpfulinformation to read, explained how to use the TSAwebsite and outlined the sort of monitoring Oliviashould be having. I now feel so much better supportedand less alone, knowing I can always call on her if Ihave a question that needs answering. It’s been reallyreassuring.”
Olivia is now awaiting a referral to the TSC SpecialistClinic in Liverpool where, among other things, herkidneys will be scanned. Another prospective hospitalappointment for Olivia is to Birmingham where she isbeing assessed to see if surgery on her brain will behelpful. Jo has been frustrated by the lack of specialistmedical care near to hand and even the daunting experience of visiting Olivia’s GP to find out he hadn’tresearched TSC and knew less than the family about
Olivia Valentine’s Surprise
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more months of discussions and a gruelling fivehour hearing, they won their case. Karen said:
“Sam’s school understand him better now – ifsometimes he can’t sit with the rest of the class,they let him have some time working in a quietarea by himself – a simple solution, but one thatmakes such a difference.”
She uses the analogy of a bucket in describingSam's sensory overload:
“Sam might be nearly full, or half full when hearrives at school – school are learning what hisparameters are and that he has to learn to self-regulate his behaviour to avoid reaching the pointwhere the bucket overflows!”
Sam's weekly visits to an occupational therapistwho specialises in sensory integration have helpedwith his sensory and spatial awareness issues aswell as his fine and gross motor skills. Karen said:
“He recently went to a noisy streetdance partywith 20 children and participated with all themoves –last Christmas he would have becomefrustrated, upset and had to go home. He wasrefusing to do PE at school at that time because hefound it so hard to co-ordinate his body, but thingshave gradually improved.”
As a result of the tribunal, Sam’s Local EducationAuthority have also been required to involve anumber of specialists in Sam's development on aregular basis, along with funding sports equipmentwhich helps with his weakened core and leg toneissues, and his classmates use this equipmentalongside him.
Karen is delighted with Sam’s progress and ispassionate about changing attitudes within the
school environment, whether with teachers, pupilsor parents. She has put together a resource forschools, to help children appreciate theirclassmates who might behave “differently.” Thiswas used in Sam’s school and there has been amarked change in the attitude of the other childrentowards him. She is also writing a book about herexperiences. She said:
“I now feel I can share my story, and I hope it willencourage others to feel positive about theirchildren’s future. Now I know there are answers,and as parents, we can make a difference.”
Introduction: In response to issues faced bymany members, as highlighted in Sam’s story[above] The TSA is delighted to have agreed
funding for a new post based at AddenbrookesHospital in Cambridge for a Clinical Psychologist towork with TSC patients to provide developmentalassessments and support in determining the necessarycare and treatment.
Background to the post: When Consultant Clinical Psychologist, Dr AylaHumphrey came to Cambridge in 1999 to work indevelopmental psychiatry under Professor PatrickBolton she was able to set up an infant clinic anddevelopmental assessment service via the TSC Clinic inCambridge thanks to some funding from the TSA. Hereshe worked alongside fellow TSA Professional
Advisers, Professors Patrick Bolton and John Yates untilthey moved on.
The Cambridge TSC Clinic focused on seeing newlydiagnosed children and establishing the role ofdevelopmental assessments in identifying TSC-relatedissues. From this they would link patients with teachingsupport staff and other local professionals who couldprovide appropriate support for these children as theydeveloped. For many children, for example those whohad not developed epilepsy, these assessments werevital in picking up developmental problems as early aspossible as they might otherwise not have been seen.The team also worked on a number of research projectslooking at the early development of children with TSC,some of which are continuing today, such as the TSCohort Study which emerged out of this work.
TSA funds new postHelp with developmental assessments
through new post in Cambridge
P12
Walk into the Wright family home and youwill instantly feel this is a friendly andvibrant place – Karen and David Wright
offer a warm welcome, but it is only when you sitand listen to their story that you come toappreciate what a struggle it has been for them toget to where they are now.
Their son Sam was diagnosed with TSC when hewas just 7 months old, and from that point, theirlives changed. At two and a half doctors werestruggling to control his frequent seizures; Sam’ssister was just starting school; his nursery wasrefusing to accept him anymore due to hiscondition and, with a business to run, it wouldhave been easy for the family to give up. Instead,they got to grips with the overly complex world ofSpecial Educational Needs and the myriad ofassociated Local Authority departments. Afterseveral months Sam was awarded a Statement ofSpecial Educational Needs (often just called aStatement) which ensured some support wasprovided for Sam to attend nursery, and a degreeof normality returned to the Wright household.
When Sam went on to start school, Karen andDavid were concerned he would struggle withsocial skills, and participation in activities such asPE. Indeed it soon became apparent that he wasexperiencing difficulties at school. Issues withSam’s behaviour were raised by the school, butthis behaviour wasn’t in evidence at home.Despite the support at school provided by Sam'sStatement, it was proving difficult to find solutionsthat worked for him, and to find techniques thatallowed him to learn to his full potential.
Then one evening, Karen saw a programme aboutan organisation called “Brainwaves” * anddecided to contact them to see if they could help
Sam. Soon Karen andDavid were takingtheir son to aBrainwaves centrefor a two dayassessment.
The assessmentrevealed that Samhad problems withsensory processing – put him in a busyenvironment and he became stressed andconfused, as he was unable to focus on anything.To him everything he was seeing or hearing wasequally important. It also showed he had
weakened core muscle tone – the reason hecouldn’t stand on one leg, hop or ride a bike, butmore importantly also why he struggled to writefor more than a few minutes and couldn't sit on thefloor with the rest of his classmates. Karen said:
“We now knew that Sam couldn’t respond tosimple instructions at school because the noise inthe classroom stopped him focusing on theteacher and that his muscle tone problems madesitting upright on the floor more than he couldcope with.”
Knowing why Sam reacts in the way he does hasmade a huge impact, as it has allowed the familyand Sam’s school to put measures and proceduresin place to help him. Brainwaves recommendedthat Sam needed Occupational Therapy withsensory integration for education and, after theLocal Authority initially refused, Karen and Davidwent to tribunal to fight for this. Following several
A bright futureWarm welcome from the Wright family
*Brainwaves is an independent organisation and has no affiliation to the TSA
He recently went to a noisystreetdance party with 20children and participatedwith all the moves ‘‘
‘‘
Continued P21
P14 P15
Annemarie’s nine-year-old daughter, Esme,has TSC and Annemarie recently graduatedfrom Manchester Metropolitan University
with a BSc in Speech Pathology and Therapy. She isgrateful to her family and friends for helping herget through the three years of juggling study, familyand commuting. Annemarie is now really enjoyingworking locally for the NHS as a children’s Speech& Language Therapist.
The development of speech and language skills inchildren with TSC is not an area that has been studied agreat deal by researchers. There is, however, evidencethat for some children with TSC language skills may notfollow the usual pattern of development. It seems thatdifficulties with speech and language skills mayhappen in children with TSC who have intellectual
impairment as well as those who do not. Children withTSC may also have a diagnosis of Autistic SpectrumDisorder (ASD), Attention Deficit HyperactivityDisorder (ADHD), epilepsy or learning difficulties.These conditions can impact on language skills in anychild and so may also impact on language skills inchildren with TSC.
The healthcare professional who assesses and providestherapy for language and communication difficulties is
a Speech and Language Therapist (SLT). For childrenwith TSC there are guidelines which outline suggestedages for assessment of language and communicationskills. These guidelines are published by the TSA as‘Intellectual and Behavioural Developmental Problemsin Preschool Children with TSC’ and as the ConsensusClinical Guidelines for the assessment of Cognitive andBehavioural issues in TSC, see Table 1:
As well as being the parent of a child with TSC I amstudying to be a Speech & Language therapist. Irecently carried out a small research project as part ofmy studies. I investigated whether children were beingreferred to see an SLT at the ages suggested in theseguidelines and was also interested in who was makingthe referrals. I found out this information by sendingout short surveys to parents with children with TSC
whose ages were between those covered by theguidelines (age 1 year to 13 years). Twenty peoplecompleted the surveys and I analysed the results usingsome basic statistical methods such as finding averagenumbers of children referred and percentages ofreferrals made by different professionals. Although theproject only had a small number of participants theinformation on the surveys showed that the group ofchildren studied were similar as a group to the group ofchildren studied in The TSC 2000 Cohort
Speech Therapy andChildren with TSA
TSA member Annemarie Cotton reports the outcome ofher recent research project as part of her studies to
become a Speech and Language Therapist
Stage/age ofassessment
I year – 1 year 6months
Toddler (1yr – 2yr11mth)
Pre-school (3yrs -School entry)
Early school years(6-8yrs)
Middle schoolyears (9-12yrs)
General area to assess
Speech, language &communication skills
General area to assess
Social-communication skills
Receptive & expressive language, Social-communication skills, Attentional-executive skills
Receptive & expressive skills, Social communicationskills, Memory, Attentional-executive skills
Receptive and expressive skills, Memory, Attentional-executive skills
Intellectual & BehaviouralDevelopmental Problems inPreschool Children with TSC
Table 1: Suggested language and communication skills assessment areas for children with TSC.
Consensus clinical guidelines(de Vries et al., 2005)
However over time the scope of Dr Humphrey’sinterests have increased, which has had an impact onthe time she can devote to this area. This coupled with adesire to make sure there was sufficient successionplanning, led her to approach the TSA with a proposalfor a new post.
She said:“I thought it was important to identify younger peopleto take up an interest in TSC and to begin to pass on theknowledge that has been built up over many years.”
Her approach coincided with considerations underwayin the TSA about how to respond to member concernsover limited access to developmental assessments andthe decision was taken to fund a post in this field atAddenbrookes for three years.
Dr Ella Rands, a Clinical Psychologist who for the pastcouple of years has been working in child developmentwith children with complex neurological needs wasduly 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 atAddenbrookes hospital. The TSA is funding one day aweek of her time and the remainder will be dividedbetween working with children with NeurofibromatosisType II - a condition which links to TSA in the sense thatit is a genetic condition for which there are alsorelatively few centres which specialise in itsmanagement - and working in general paediatrics andneurology – another synergy with TSC.
One bonus of the breadth of this role is that it addressesa current shortage of young psychologists who haveexposure to genetics across a wide range of disorders.This post will allow Dr Rands to identify similarities andanalyse how different disorders might fit together.
As the post is new, the exact nature of how it will workwill evolve over time as Dr Rands and the team assessthe demand from and needs of patients. However shewill work as part of the team at the Cambridge TSCClinic where she is likely to see mainly newlydiagnosed children to offer them an initialdevelopmental assessment.
For families who come under the local area, the teamwill continue to work with them directly to implementand deliver the treatments and services that have beendetermined to be right for them.
Newly diagnosed children from outside the Cambridgeand Peterborough area are welcome to be referred toDr Rands for developmental assessments after whichshe will determine what interventions each child islikely to benefit from and link them up with thoseservices in their local area. All of this should be mucheasier to achieve with the psychological assessmentswhich Dr Rands will be able to provide.
Dr Rands will be working alongside Dr Sally Benson,Lead Consultant Clinical Psychologist in theDepartment of Paediatric Clinical Psychology atAddenbrookes.
Dr Benson said:“This post is a wonderful opportunity to incorporatedifferent expertise within the Addenbrookes TSC teamand a chance to consider how best to meet thepsychological needs of families and the specific role ofpsychological assessments and interventions inachieving this.”
Evidence gathered by Dr Rands could havesignificance on a national basis by providing othercentres with evidence on the psychological needs ofchildren with TSC. It will also be useful in developingevidence of what psychology can offer as part of amulti-disciplinary team which could provide a usefulmodel for other teams across the UK.
The Future:Dr Humphrey plans on arranging a lengthy inductionand handover period so that Dr Rands can capitalise onthe wealth of experience and expertise inunderstanding and managing TSC already generatedby other professionals working in this area.
The audit part of the post will also feed into ademonstration to the NHS Trust of the positive impact ofthe post and that it should be established as apermanent post once the TSA funding has come to anend after three years.
Services provided by the CambridgeTSC 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 UKTel +44 (0)1223 216662Fax +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
I thought it was important toidentify younger people totake up an interest in TSC‘‘
‘‘
TSA funds new post cont...
P16 P17
This year is a big year for Katie Vaughan, justturned 16 and about to face the majority of herGCSEs.
Probably the greatest challenge most of her schoolfriends will have faced in their lives so far. However forKatie, who last summer managed to take five GCSEexams only weeks before major surgery to remove aTSC-related brain tumour (a subependymal Giant CellAstrocytoma (SEGA))and then returned to school inSeptember and asked to take her Maths GCSE early,2013 probably seems like a walk in the park! On top ofthis Katie now has a lot of A grades in the bag and hascoped with her ordeal remarkably well.
Equally remarkable is the way in which her school andwider community joined together to support her, andby association the TSA, when they heard the news ofKatie’s operation.
Katie lives in Fforest near Pontarddulais in Wales. Shehas two sisters, Bethan (17) and Emma (13) and hermum is Lorraine. Katie’s Dad, Rob, is Treasurer of theTSA and partner in an accountancy firm.
Katie has already had one difficult patch back in 2009when she had 95% of a SEGA removed. 18 months latershe developed epilepsy for the first time. After fourmonths spent trying to obtain an official diagnosis,medication was prescribed, which has proved to besuccessful in treating the problem. Unsurprisingly, theteachers at Katie’s school, not quite understanding thenature of TSC, thought that her problems were over.
Staff at Ysgol Gyfyn Gwyr in Gowerton were thereforeshocked to be told in March 2012 that Katie’s tumourwas growing back and that surgeons wanted to removeit before it became dangerous and Katie started tosuffer significant symptoms. Katie and her parents wereable to explain how TSC can affect the body and thenature of Katie’s surgery.
Her tutor at the time, Jonathon Thomas, and scienceteacher Paula Davies responded with the news thatthey wanted to support Katie by nominating theTuberous Sclerosis Association for their summercharity fundraising. Katie’s friends and teachers set outenthusiastically on a series of events, the proceeds ofwhich totalled nearly £3,000.
Activities included a non-uniform day; a sponsoredwalk and a cricket match between staff and ex-studentsas well as a 40-mile ultra marathon completed byteacher Nick Howell. One of Katie’s friends, LucyFurlong, raised over £100 herself and the accountancyfirm Ashmole and Co (Katie’s dad Rob is a partner)added an additional £1,000 to the cause as well asgiving their support to the family while Katie was inhospital.
Katie and her family have been overwhelmed by theway their community rallied to support them and tohelp the TSA support many others. They are alsodeeply touched and very grateful for all everyone hasdone for them.
When Katie’s exams are over this summer, she will nodoubt be delighted that this time her celebrations don’tinclude plans for a trip to hospital.
With a little help fromher friendsKatie Vaughan
One of Katie’s friends,Lucy Furlong, raised over£100 herself‘‘
‘‘Study (Yates et al, 2011), a much larger researchproject. In both groups the percentage of children withepilepsy and the average age at which the childrenwere diagnosed were similar. This suggests that theresults of my study may be applicable to a wider groupthan just those who completed the survey.
What did I find out?The majority of those who replied had been referred toSLT services, but initial referrals were often made whenthe child was older than the age recommended in thepublished guidelines. All respondents who had beenreferred for SLT had a diagnosis of epilepsy as part oftheir TSC and the majority had a diagnosis of learningdifficulties. Referrals were generally made bypaediatricians followed by health visitors, parents,school staff and finally GPs who made the fewestreferrals.
Why might this information be useful?If a child is experiencing difficulties with theirlanguage and communication skills a referral to an SLTcould result in specific individualized advice for thatchild and their family. The results of this study suggestthat although children are being referred forassessment by an SLT this is often not happening untilthey are older than the guidelines recommend. Thismay mean that those children who are havingdifficulties may not be getting the help they need asearly as they could. The study did not show why theseearly referrals may not be happening. It is possible thatparents and professionals are not aware of theguidelines or the potential benefits of referring to anSLT when the child is very young. It is also possiblethat the children in this study were not perceived to
have any language or communication problems whenthey were very young and so a referral to an SLT wasnot thought necessary. It is important however to notethat professional assessment by an SLT at an early agemay be needed to pick up communication difficultiesthat have not been noted by parents or otherprofessionals.The results suggest that it is not onlypaediatricians who refer the children for SLTassessment but also Health Visitors, GPs, school staffand parents. Out of the twenty children involved in thestudy, 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 kindbetween a child having epilepsy or learning difficultiesand them having speech and language difficulties.However there would need to be a larger study toinvestigate any possible link as in a small study like thisthat result could just have been coincidental.
What you can do?If you have any worries about how your child iscommunicating then you could contact your local SLTservice yourself and ask for an appointment.Alternatively you could ask your doctor, health visitor orchild’s school/nursery to do this.
You may want to take along a copy of the TSA’s‘Guidelines for the assessment of cognitive andbehavioural issues in TSC’ and, depending on the age ofyour child, a copy of ‘Intellectual and behaviouraldevelopmental problems in preschool children with TSC’when you go to see the SLT. You can download and printthese from the TSA website, or ask your TSC Adviser forhard copies. This information will be useful for your SLTwho may not have had any direct experience of workingwith children with TSC.
I am very grateful to the parents who took the time tocomplete a survey and also to the Tuberous SclerosisAssociation for their enthusiasm and support in helpingpublicise the study and gain access to participants. I amalso grateful for the support and guidance of my projectsupervisor, Julie Philips. Annemarie Cotton
Referencesde Vries, P.J., Humphrey, A., McCartney, D., Prather, P., Bolton, P., Hunt, A., & the TSC Behaviour Consensus Panel, (2005) Consensus clinical guidelines for theassessment 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 Childhood96(11): 1020-1025
As well as being the parent ofa child with TSC I amstudying to be a Speech &Language therapist‘‘
‘‘
Speech Therapy and Children with TSA cont...
P18 P19
Paul Ritchie raised funds by racing in HellRunner, a mud-filled endurance challenge.
Even though the run was much harder than Paulhad anticipated Paul met both the targets he hadset himself.
He completed the run in just less than threehours, considerably less than his four hour targetand far from coming last he came in at 1631 out of1690. Paul is pictured with his son Logan who wasdiagnosed with TSC at eight months old. Logan isa lively little boy who loves nothing more thanclimbing around his Granddad’s tractors and isdoing well at nursery. Logan had life-savingsurgery for a cancerous tumour in his kidneywhen he was just ten and a half months old – acondition not connected to his TSC but whichmight not have been picked up in time withoutthe standard TSC checks.
Logan is having treatment to control facialseizures and awaiting speech therapy butotherwise he is doing very well and proud of hisintrepid father. Far from being put off by threehours struggling through mud, Paul plans toundertake the Hell Runner again next year.
Patricia Little continued to raise funds forthe TSA last year through various
activities at the caravan site she runs andsent a cheque to the Annual Conference for£446. Instead of charging for extras on hercaravan site, such as late check out andhaving visitors, Patricia asks people todonate to the TSA. The charity is close to herheart as her niece, Rebecca Wood has TSC.Rebecca herself gets involved with thefundraising every year, when she bravelystands up and calls out the winners to araffle held at an annual fireworks party forregular customers of the caravan site.
Anthony and Eileen Webber celebratedtheir 50th Wedding Anniversary and
asked all people buying gifts to give to theTSA. £250 was donated by family andfriends in support of their daughter Susan(44) who has TSC. Susan, who was notdiagnosed until she was 18 due to veryminor symptoms, has received what thefamily describe as ‘wonderful care’ from theteam at at the TSC Clinic in Bath who havehelped Susan with problems with tumours inmultiple organs and epilepsy.
Tim and Cinthia Barto n kindly donated£120 towards TSC research.
30-year-old Ben Smith’s family took part inthe Ipswich Big Fun Run and raised over
£100 for the TSA. Ben’s mother, Linda ranalong with Ben’s cousins Sarah and Jonathanand Jonathan’s partner, Heidi.
Linda said: “It was a very wet morning butwe ran the course for the TSA like troopers.
Ben was delighted that everyone had madesuch an effort for him and the team are lookingforward to running again next year.”
Christmas FundRaising
A big thank you toeveryone whobought Christmascards, downloadedthe Christmas Quizand took part in theNational Raffle, all ofwhich helped us toraise over £4,000
At Scarborough North Cliff Golf Club,Club Captain John Titley has chosen the
TSA as the charity for the year. They havealready raised nearly £900.
Dianne Rouse raised funds throughoutlast year by hosting craft workshops
and selling her handmade items to raisefunds for the TSA. She has raised £1,200.
Brian Price donated £300 from the sale ofhousehold items and jewellery
belonging to his beloved late wife JeanMarie.
Thanks to Madeleine and Rob Evans for£761, raised from the proceeds of a
sweepstake on the length of speeches attheir wedding in January!
Mary and Chris Flanagan raised £40from selling an item on Ebay.
If you want to fundraise by gettingrid of your unwanted stuff, get intouch with Emma in fundraising(see rear cover for contact details)and she will talk you through how itall works..
Matthew Harker raised funds throughout2012 and donated £226.
Our thanks go to everyone who has workedhard to raise funds for the TSA over the past
months. Here is a selection of some of yourinitiatives….
The ladies from Kedleston Park Golf Club arecelebrating having raised £3,648.22 in a year offundraising for the TSA in support of eight-year-old Thomas Oldknow, who has TSC and isgrandson of club member, Kath Oldknow.
The club raised funds throughout the year withactivities ranging from an antiques evaluationday, a Bridge competition, to coffee and salesmornings and numerous donations andindividual contributions.
Club Captain Judith Walker described how theydecided to raise funds for the TSA:
“When I was trying to think of a deserving causeto be our charity for the year, Kath approachedme about the TSA and explained that hergrandson has TSC. After doing some research Ifelt it was a very deserving cause and that weshould try to raise awareness of the condition aswell as funds.”
At a celebratory lunch in the autumn of 2012,attended by Thomas’ mother Jenny Oldknow, representatives from the TSA, Tom and AnneCarter and new Community FundraisingManager Emma Damian-Grint accepted thecheque from the ladies team. Thomas’ motherJenny said:
“I am absolutely thrilled to bits that they chose tosupport Thomas’ charity, the TSA. It means somuch to me as the TSA has helped us from dayone of Thomas’ diagnosis.
The level of support we have received has beenincredible and we always try to give somethingback when we can.”
Fundraising News Fundraising News
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Dr Anurag Saxena, who features on ourfront cover, is a paediatricneurologist in Cardiff working
alongside Professor Julian Sampson onresearch into TSC. He is running the LondonMarathon for the first time this year.
He is trying to rigidly stick to his trainingregime, despite the snow and his hecticwork schedule. He is in the first month oftraining and has not yet got to running highmileage so his main problems so far havebeen blisters.
Dr Saxena has been advised that if he sticksto the regime, he should at least be able tofinish the course which is his key objective.Dr Saxena has been working with patientswith TSC for years inhis capacity as apaediatric neurologistbut this is his first yearof full time TSCresearch.
About me:
I’m Dr Anurag Saxena. I am a PaediatricNeurologist, currently working at the Institute ofMedical Genetics in Cardiff on the TRON study. TheTRON study is looking at effect of the drugEverolimus on memory and problem solving skills inpeople with TSC. Everolimus is a drug called anmTOR inhibitor – (similar to Rapamycin). Memoryand thinking problems are common in people withTSC, however these problems are sometimes onlyreally noted by family members or friends. The TRON study is now looking for volunteers withTSC aged 16 – 60 years. If you have TSC andhave reasonably controlled epilepsy or no fits at alland are willing and able to participate in memoryand thinking tests, please contact the TRON trialteam directly. I would be happy to clarify yourqueries about the TRON study. Everolimus isalready known to help with the kidney and braingrowths in TSC and this study will help us find outif it can help more people with TSC.
Why run for TSA?
Working with families and individuals having TSC isinspirational. While working on TRON TSC will be myexclusive focus, but for affected families thechallenge of TSC is life-long. The TSA is a hugesupport to these families.
Why now?
I shall be older next year.
Acknowledgments
I am grateful to the TSA to give me theopportunity to run my first Marathon. I hope tocomplete it in one piece.
Tel: 02920746412
Email: [email protected]
Virgin London Marathon2013 looks set to be a great year for long distance fundraisingTrent Bridge Rotary Club which has often
supported the TSA over the year recentlyraised £250 from a Charitable Bonfire Event.
Sarah Currie, who has TSC, raised £1464 in2012 through boot sales and card sales
helped by her local horse riding club. Sarah ispictured presenting a cheque to CEO JayneSpink at last year’s Annual Conference.
Tony Robinson presented a donation of£1,000 to the TSA at the Annual Conference.
Tony's granddaughter Lily (7) has TSC and herwhole family is very active in supporting theTSA. Lily, who has tumours in her brain andkidneys, has thankfully been very mildlyaffected by TSC. In the past 18 months thefamily lost both Lily's Great Uncle and herGrandmother (Tony's wife) but managed tomake something positive come out of theirsadness as both estates made significantdonations to the TSA. Lily's uncle DarrenRobinson is planning to run the LondonMarathon for the TSA this year and her schoolselected the TSA to benefit from collections attheir 2012 Christmas performances. Anadditional bonus from this was that anotherfamily at the school, whose daughter is
currently under investigation by doctor's forsuspected TSC, were comforted to understanda little about the disorder having readinformation leaflets which Lily's mother, Clare,gave out at performances to help raiseawareness. Looking forward, Tony isconsidering a wages holiday to benefit the TSAfrom his haulage company - a great idea forother self-employed would-be fundraisers!
Thanks also go to the following: Paul, Sarah,Shaun and Alan and all the customers at
Hoddom Castle in Dumfriesshire who held afamily fun day and raised £1,410.45 for theTSA.
When StuartSkinner was
approaching hisfortieth birthday,he decided it wastime to dosomething to getfit. He was talkedinto doing aTriathlon by atrainer at the gymand opted to raisemoney for charitythrough it as well.Over the course of his training Stuart lost amagnificent four stones and also managed tocomplete the challenge of a 400 metre swim; 23 kmbike ride and 5k run in 1 hour 20 minutes, wellunder his target of 1 hour, 45 minutes. Stuart hasgot the bug now and is planning another triathlonat double the distance. He was supported all theway by his seven-year-old daughter andinspiration, Francesca who has TSC. Francesca hashad epilepsy since she was 10 months old and wasinitially very badly affected by the medication shewas given to treat it. When her dosage wasreduced, Francesca returned to her old self withinweeks and since then her epilepsy remainsreasonably well controlled and she has grown intoa bright little girl, barely affected byher TSC.
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The Big Purple Charity Ball, Royal York Hotel, York 11th May 2013. £27 per ticketIncludes 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 07889131919or atwww.facebook.com/TheBigPurpleBall/info
Yorkshire 3 Peak Challenge 22nd June 2013£35 per personDust off those walking boots, rinse out thoseflasks and get those packed lunches ready!Join us for this new summer challenge eventtaking 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 weattempt to summit 3 peaks in one 12 hour day.There are accommodation and full board optionsavailable, and this event can be suitable foryoungsters and adults alike.
Get in touch with Emma (See Contacts page) tofind out more or to book your space.
What’s up next in this coming year’s calendar
Forthcoming Fundraising
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Husband and wife team, Sian and Chris Luggare running the London Marathon this year
for Sian’s three-year-old nephew, Dylan, whowas diagnosed with TSC before he was born.Despite the concerns and stresses overDylan’s health problems over the past years,the family are enjoying time with gorgeousand lively Dylan.
Sian describes Dylan and her brother andsister-in-law as ‘an inspiration to us all’. Shecontinues; “We feel that running a marathon,although a massive task, is the least we can doto try to raise money for the TSA to go towardsresearch and support for the families.”
Pictured in her new TSA T-shirt, Sian is a bigfan of the new colours! She and Chris aremanaging to juggle their training regime withthe demands of bringing up their three veryyoung children.
They are training four times a week and so farhave succeeded in increasing the distancesthey run in line with their training plan whichmeans the 26 miles isn’t looking quite sodaunting. Support Sian and Chris atwww.justgiving.com/Sian-Lugg3
Other TSA runners to support in April areKerry O Halloran who has a niece, Isla, withTSC; Darren Robinson, uncle to Lilymentioned earlier; Jonathon Jacobs whosebrother’s two children have TSC; MartynBaxter whose nephew has TSC; Robert Bakerand finally David Donovan whose goodfriend’s son has TSC.
Six-year-old Emily Kate Jackson fromWhitley Bay was the focus of fundraising
at Whitley Bay Playhouse when her sisterAlice (10) and auntie Alisar Taylor took partin performances of Sound of Music andraised £300 for the TSA through bucketcollections.
Emily Kate was diagnosed with TSC whenshe was just 17-months-old afterabnormalities were discovered and an MRIscan revealed three non-malignant growthson her brain.
Her mother Sarah said: “I would like to give abig thank you to Day 8 productions forallowing the fundraising. It is so importantthat money is raised for research into thecondition in the hope that one day a curemay be found.”
Trusts Grateful thanks to the following for theirdonations:
• Swann- Morton Foundation Trust - £500• Ardwick Trust - £100• Sylvia Aitken Charitable Trust - £2000• The Khayami Foundation - £500 • The Murphy-Neumann Charity - £500
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people taking everolimus overlong periods of time. The nextbig study will be EXIST-3,which will look at everolimus’effects on epilepsy. The trialwill be open to people aged 2-65 who have at least twoseizures a week.
Dr Kingswood also discusseddiagnosis of infantile spasmsand current studies intowhether EEGs can be used forvery early diagnosis.
The TS2000 study –Professor Patrick BoltonProfessor of Child andAdolescent NeuropsychiatryLondon, Professional Adviserto the TSA and TSCResearcher and Dr FionaMcEwen, Project CoordinatorTS2000 study.
Professor P4atrick Boltonspoke to the conference aboutthe background and progressof the TS2000 study, whichwas set up to look at the waythat problems, such asepilepsy and learningdifficulties in TSC, emergeduring development. Thestudy is longitudinal (overtime), and it is the first of itskind in TSC. The first phase ofthe TS2000 recruited newly-diagnosed TSC patients overa five-year period, beginningin 2001. As well as collectingdata about when anyproblems emerge the study
also examined the care thatpeople were receiving, andhow this might be improved.
Dr Fiona McEwen, who will beco-ordinating the TS2000team, spoke about the plans
for the second phase of thestudy which will involvefollowing up on families andchildren to chart and revisitphysical complications,including SEGAs and AMLs,as well as behavioural andphysical problems.
The London-based researchteam will be offering homevisits, for specialisedassessments. Parents will beasked for interviews and tocomplete questionnaires, toget a detailed developmentalhistory and find out aboutcurrent behavioural problems.The children will undertakeassessments to look atbehaviour, development,social understanding,attention, and impulse controlas well as some medicalfeatures. Unaffected siblingswill also be asked toparticipate, as a way ofproviding a sample forcomparison.
Dr McEwen has asked anyonewho has been involved withthe study before to please lether know if your contactdetails have changed and, ifyou can, keep a record ofinvestigations, medical lettersand test results as much aspossible.To contact the TS2000 team:E-mail: [email protected]: 020 7848 5272Website: www.tuberousscle-rosis2000.co.uk
The TRON study – Dr AnuragSaxena, PaediatricNeurologist who worksalongside ProfessionalAdvisor, Professor JulianSampson in Cardiff
Dr Anurag Saxena rounded offthe first session of researchtalks by speaking about theTRON study, which aims torecruit 48 participants to lookat the effects of everolimus onneurocognitive problems inTSC.
Study volunteers must bebetween 16-60 years of age,have fairly stable epilepsy thatonly occurs occasionally, andbe able to sit through the quiz-like tests and assessments.Two out of three volunteerswill receive treatment witheverolimus and one out ofthree will be given placebo(dummy drug). Volunteers willnot know whether they havebeen given everolimus or theplacebo during the study.Study volunteers will need to
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INTRODUCTIONOn 28th November wewelcomed over 250delegates to the BromsgroveHilton in Birmingham for our2012 Conference and AGM.Here, Pippa Goldenberg,daughter of our ChairmanPhilip, reports.
The opening address wasgiven by our Patron and long-time supporter, Nick Highamwho is a journalist with theBBC. Nick spoke about theimportance of raisingawareness of TSC and therole that the media could playin helping us raise TSC up theagenda.
The morning sessionprovided a review of the pastyear and future plans as wellas an overview of the currentdirection of research from theresearch bench through tothe clinic. The session wasrounded off with a ‘questiontime’ session, where a panelof experts answeredquestions from the audience.
The AGM took place duringlunch break and wasfollowed in the afternoon by aseries of interactiveworkshop sessions for whichdelegates split into smallergroups; parents of youngerchildren, adults and carers ofadults with TSC.
Professor Chris Oliver and DrKate Eden led a workshopfocusing on autism andchallenging behaviour; DrChris Kingswood, focused onkidneys and TSC, but alsoincluded information fromSam Amin on a new mTOR
inhibitor trial; and Dr NeilWalker led a workshop on skinand TSC.
Our morning plenary session- TSC ResearchDr Chris Kingswood,Consultant Physician inNephrology at Brighton andSussex University HospitalTrust, Professional Advisor tothe TSA and Head ofResearch Strategy andTrustee, spoke about theprogress in TSC. Giving a briefintroduction about thediscovery of both the TSCgenes he then presentedinformation about the twomain trials for TSC treatmentin recent years: the EXIST-1and EXIST-2 trials, both ofwhich looked at the safety andeffectiveness of the drugeverolimus.
The EXIST-1 trial looked at thetreatment of subependymal
giant cell astrocytomas(SEGAs) in children, aged 3-18, and found that treatmentwith everolimus resulted insignificant shrinkage ofSEGAs. The findings of thestudy had resulted in a licensefor the use of everolimus forthe treatment of SEGAs. TheEXIST-2 trial, set up at aroundthe same time, investigatedthe effects of everolimus onbenign kidney tumours calledAngiomyolipomas
(AMLs) in adults (18+). DrKingswood explained how thestudy had shown everolimusto be extremely effective atshrinking or stabilising AMLsand that it had improvementsfor some patients of their skinrash, neurocognition and in aminority of cases of theirepilepsy.
Dr Kingswood emphasized theimportance of follow-up for
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Dr Kate Eden spoke brieflyabout her recent research intothe behaviours of children andintellectually disabled adultswith TSC, the results of whichshowed that around 27% ofchildren showed self-injury,and 50% showed aggressionand that around 30% of adultswith an intellectual disabilityshowed self-injury, and 40%showed aggression.
The research showed thatchallenging behaviour mayoften be an indication that theindividual might is in pain, orthat there might be anunderlying health problem thatneeds investigating. ProfessorOliver then took the floor againto explain why this might bethe case. When someoneexperiences pain, it sends asignal up to a certain part ofthe brain constantly. We maybe able to ease pain simply by“rubbing it better” because indoing so we create a differentsignal to the brain that blocksout the pain signal. If wecreate a different sensation,such as a different painelsewhere in the body, this canalso block the signal. This iscalled “pain-gating” and itgoes some way to explaininghow living with pain can leadto self-harming
In terms of identifyingdiscomfort and pain, there arefive behavioural signs: FLACC,which stands for face, legs,activity, crying, andconsolability. Face means twolines down the middle of theforehead, a universal sign forpain and discomfort; legs area lot more active when peopleare in pain; activity levelsgenerally go down when
people are ill; crying speaksfor itself; and consolability,which is the critical sign,where the behaviour doesn’tchange no matter what isdone. Professor Oliver alsospoke about how TSCpatients and parents can getcaught in a loop, where thechallenging behaviourbecomes a form ofcommunication that elicits adesired response from theparent or carer. For example,self-injury prompts the carer toprovide comfort, so the patientdoes it every time they wantcomfort, and then the carercontinues to provide it to stopthe self-injury. This canreinforce challengingbehaviours, and if possible, it’sbest to take a step back, viewthe behaviour as a form ofcommunication, and perhapsmodify the response to avoidself-injury when possible.
Professor Oliver has resourcesthat have been developed tohelp deal with these sorts ofproblems for Cornelia deLange syndrome which couldbe useful to parents andcarers of people with TSC.
If you would like a copyplease e-mail:[email protected]
WORKSHOP 2Kidneys and TSC,with Dr Chris Kingswood
Dr Sam Amin, PaediatricNeurology Research Associateworking with Dr FinbarO'Callaghan in Bristol, openedthe session by outlining a newtrial about to take place in theBath and Bristol area. The
trial, named MiTS, tests theeffectiveness of a drug calledmetformin which is an mTORinhibitor, in the treatment ofAMLs. Metformin is currentlyused for the long-termtreatment of type-2 diabetes.
To participate in the trial,individuals need to be agedbetween 10 and 65 years, bediagnosed with TSC, and haveat least one AML with adiameter of 1 cm or more.They cannot have diabetes;their kidney and liver functionshould be normal; they needto be stable, and shouldn’thave any heart or lungproblems or be pregnant orbreastfeeding. The trial will belooking at the size of AMLsand whether metformin hasany effect. It will also involveblood tests, MRI scans, andassessments of epilepsy,cognition and quality of life.
All scans need to be takeneither at the Bath TSC Clinicor at another clinic which iswilling to participate in thetrial. To find out more contact:
[email protected]: 01225 824218Website: www.bristolcns.org
Dr Chris Kingswood then tookthe floor, summarising theproblems and treatmentsspecifically relating to kidneysbefore answering questionsfrom the audience.
Dr Kingswood described howAMLs occur in 80% of peoplewith TSC and also explainedthat 5% of TSC patients havePolycystic Kidney Disease(PKD) as well as TSC, and 1%of people with TSC will
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visit the University Hospital inCardiff, eight times over a 40week period. If you areinterested in volunteering forthe study you are invited tocontact Dr Saxena:
E-mail: [email protected]
New directions in lab-basedresearchKicking of the second plenarysession, Dr Andy Tee, SeniorLecturer in Cancer Genetics atCardiff and ProfessionalResearch Adviser to the TSA,discussed the history ofresearch into TSC andexplained what goes wrong inTSC cells. In 1993-1997good communication and co-ordination between families,clinicians and geneticists ledto the discovery of genesTSC-1 and TSC-2. At aroundthe same time it wasdiscovered that rapamycin –an immunosuppressant usedin kidney transplants, toprevent rejection of the neworgan – inhibited mTOR, a keycomponent in cell growth.
In 2002, research showed thatthe TSC genes affected mTORsignalling, stopping mTORfrom being turned ‘off’. WhenmTOR is turned ‘on’, it drivescell growth, particularly fatcells and blood vessels, whichthen lead to AMLs amongother things. In healthypatients TSC-1 and TSC-2work together to turn offmTOR when the cell no longerneeds to grow. But in patientswith TSC, TSC-1 and TSC-2are faulty and cannot interactproperly, leading to extra cellgrowth. This then led to thetheory that rapamycin – which
had been shown to turn offmTOR, even when TSC-1 andTSC-2 are faulty – would be asuitable treatment drug,leading to successful trials.
The session was then handedover to Dr Kayleigh Dodd,Research Associate at CardiffUniversity. Dr Dodd gave us afantastic overview of theresearch techniques andmethods that are used tomake these discoveries andfind new and better ways totreat conditions. Shedescribed how cells can begrown outside the body insterile conditions in bottlescontaining a liquid containingall the components they needfor growth and survival andthat the cells are kept inincubators set to 37 degrees(body temperature).
The living cells can then bemanipulated and tested, tosee how they work and whattreatments work best. Theteam are investigating whatelse TSC-1 and TSC-2 affectwithin the cell and how anyother problems they causemight be treated. They havealready discovered that aprotein called HIF, which isimportant for cell growth, ispresent in very high levels in“TSC cells” and theorise thatHIF could be a potential targetfor future drugs.
WORKSHOP 1Autism and ChallengingBehaviourwith Professor Chris Oliver,Professor of Neurodevelop-mental Disorders, University of
Birmingham and Dr KateEden, TSA Research Fellow
Professor Chris Oliverprovided an overview of theresearch being carried out andfocussed on two of the mostdifficult behaviours, self-injuryand aggression. The mainchallenge for behaviouralresearch is to understand
difficult behaviour in peoplewith learning disabilities, andto then come up with practicalsupport and practicalinterventions that can bemade available to everybody.While it’s well understood howgenes affect physical qualities,the influence of genes onbehaviour is much less wellunderstood. This is becauseour behaviour is influenced bynot only by our genes but by acomplicated array ofenvironmental factors.
THE CONFERENCE NEWSTuberous Sclerosis Conference - 28th November 2012
There were special crèche facilitiesavailable to look after and entertainall children who attended theconference. Below is a report on thespecial sessions run during theconference for siblings of childrenwith TSC.
Why we had a young siblings groupfor the day:As an organisation in regular contactwith families, we are well aware of theconcerns many parents and carershave regarding the needs of theirchildren who do not have TSC.
Sometimes, those in families who donot have TSC are called ‘unaffected’,but it would be inaccurate to say thatbrothers and sisters (siblings) ofchildren and young people with TSCare ‘unaffected’.
Most siblings cope very well withtheir childhood experiences andsometimes feel strengthened bythem. We know that giving siblingsthe chance to talk things over andexpress feelings and opinions can goa long way to help them deal withworries and difficulties that are boundto arise from time to time.
With this in mind, the TSA contactedSibs (www.sibs.org.uk), the only UKcharity representing the needs ofsiblings of disabled people, andasked them to help us to organise anevent for children and young people.
We wanted to give young “TSCsiblings” opportunity to meet otheryoung “TSC siblings”, to have timeto talk and ask questions, and tohave fun.
We are grateful to Sibs, and inparticular a huge thanks to Nicola,for organising and leading this dayfor us.
Who came:We had 13 children and youngpeople join us, from the ages of 7-14,fairly evenly dispersed across thisage range.
What we did:We had a very full day, and we wereall flagging by the end of it! Activitiesincluded many and various gamesand crafts; and talking and sharingtime, which included the ways inwhich TSC affects their sibling(related to a fun time when we drewround our bodies), and how thisimpacts on the young people whowere in our group.
The siblings shared feelings of:Isolation; confusion; frustration;embarrassment; getting annoyed andfeeling angry; stress and worry(including for their parents).
Practical implications included:having less attention from parents;being bullied at school; not gettingenough sleep and exhaustion;difficulty getting homework done; notbeing/feeling able to have friendsround to the house; possessionsbeing damaged; having no personalspace or time.
We used the role of a magazine‘agony aunt’ to identify what youngpeople could do about both practicalneeds and feelings.
Strategies included: talking to aparent about your feelings or writinga letter to your parent; your parentsrotating time between the sibling withTSC and yourself – for example oneweek your dad has his time for you
whilst your mum spends time withyour sibling, and vice versa; going toa Young Carers Group; asking forcounselling at school or having anidentified adult at school you can goto; having a card to show otherteachers so you can leave the classto go to a previously-agreed room ifyou’re struggling.
The sibling’s comments:The children evaluated their day andcomments included (reproduced herein 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.’
What can we do as parents?Please consider giving your childopportunity to join the siblings groupnext year.
Look at the Sibs website for moreinformation and contact them if thatwould be helpful www.sibs.org.ukphone 01535 645453. Sibs have aninformation sheet for young peopleabout TSC.
See also www.youngcarers.net – part ofthe Carers Trust (in Scotland: ThePrincess Royal Trust for Carers)There may be a Young Carers Groupnear you. See www.youngcarer.com We would love to hear from youabout your thoughts for a similarevent next year. Please let FionaMcGlynn, our Head of SupportServices know [email protected] or phone0121 445 6970.
In the evening of the conferencethere was a fundraising dinner inhonour of Anne Carter’s retirement. Itwas a great success.
Pictured is Chris Naylor presentingsome flowers and a present to Annefrom the Trustees, staff and somemembers. Speeches with tributes toAnne were made by Nick Highamwho had spent the day dashingbetween the TSA and broadcastingfor the BBC; Graham Harker and DrChris Kingswood.
AND WHAT DID THE CHILDREN DO?
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eventually get kidney failure.TSC patients are also morelikely to develop renal (kidney)cell cancers and tumours, andexperience higher bloodpressure than those who donot have TSC.
Until recently, the maintreatment option for AMLs hadbeen embolisation. Lessinvasive than surgery toremove the AML, thistreatment nonetheless causespain and requires a hospitalstay. For patients with AMLswith an aneurysm greater than5mm embolisation is probablyoptimal treatment. Clinicaltrials have shown that AMLsrespond very well to mTORinhibitors. They stop growing,stabilise and shrink offering analternative medical (drug)treatment for some patients.Dr Kingswood reflected onresults from the MILES studywhich looked at treatment ofgrowths in the lungs (LAM) inwhich the drug rapamycin wasshown to completely preventworsening of the conditionwhile the patients took it.However this then declinedwhen the drug was stopped.This is similar to the situationwith mTOR inhibitors and thetreatment of AMLs - theybegin to grow whenmedication is stopped.
WORKSHOP 3Skin and TSCwith Dr Neil Walker,Consultant Dermatologist inOxford and ProfessionalAdviser to the TSA.
Dr Walker spoke about thecauses and formation of the
characteristic facial rash inTSC, as well as the availabletreatments and variation infunding and servicesdepending on where you live.
The extra mTOR in TSCcauses the growth of the softtissues that create fibromasand it also stimulates bloodvessel formation that causesthe red element of the facialrash. Patients vary in terms ofthe appearance of the rash:some will have mostlyfibromas; some will have largered patches from the bloodvessels, and most will besomewhere in between.
Treatments for the facial rashinclude electrosurgery,cryotherapy, chemical peeling,dermabrasion and shaveexcision. The treatmentswhere new developments arestill being made involve arange of lasers, includingargon/copper vapour lasersfor heating blood vessels andreducing angiofibromas;carbon dioxide or erbiumlasers, used for peeling offlayers of skin and evening outfibromas; flash lamp pumpeddye laser, used for treatingportwine stains and the bloodvessels in angiofibromas;smooth beam laser, where theskin is cooled first and thenthe laser heats the layersbeneath the surface withoutcreating burn wounds on thesurface itself.
Dr Walker spoke about thedifficulties in finding fundingfor treatment, and of his
expectation that findingfunding will likely be mademore difficult with the changesin the NHS that come intoforce in April 2013. Heemphasised that the servicesfor facial rash treatment willvary depending on the localarea, and different specialistswill have access to differentlasers and differenttreatments, and have differentpreferences for treatment.
We would like to thank all ourpresenters and delegates formaking the 2012 conferencesuch a successful event.
If you would like to read thefull report of the 2012conference please visit theweb-site and download acopy or get in touch if youwould like us to print and senda copy to you by post.
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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 corticaltubers, leading to more severe epilepsy, which increasesthe risk of intellectual impairment. During Phase 2 we willfocus on behavioural difficulties, including AutismSpectrum Disorder (ASD) and Attention DeficitHyperactivity Disorder (ADHD).
What will it involve?We will offer home visits to do in-depth assessments forASD and ADHD, intellectual development, and daily livingskills, as well as tests of social understanding, impulsecontrol, planning, and thinking styles. We’ll ask parents tocomplete an interview and questionnaires andchildren/young people to do some paper and computerbased tasks, like games and puzzles. If a child/youngperson is found to have significant problems then we canwrite a report for their doctor.
Who should I contact to take part/for moreinformation?Dr Fiona McEwen/Dr Charlotte Tye, PO 80, Institute ofPsychiatry, 16 De Crespigny Park, London, SE5 8AF; 0207848 5272; [email protected]; http://www.tuberoussclero-sis2000.co.uk
Cardiff University - TRON* (a clinical trial of Everolimusin 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 buthave not changed their epilepsy drugs in the 6 monthsbefore starting the trialANDAre able to participate in the memory and thinking tests (This will be assessed before starting the trial, but peoplewith severe learning difficulties will usually not be able totake part).
Why is this trial being done?Recent trials have shown that Everolimus is effective inshrinking kidney growths (angiomyolipomas) and braintumours (SEGAs) in many people with tuberous sclerosis. This trial will explore whether the drug is also effective forsome of the major common effects on tuberous sclerosis onthe brain – thinking and epilepsy.
What will it involve?Participants will come to the University Hospital in Cardiff 8times over almost 40 weeks. However, some people whowish to take part may not be able to do so if we find certainhealth problems at the first visit. The TSA have providedfunds to cover travel costs for this and, if required, overnightaccommodation costs for volunteers and a familymember/carer. There is a 2 out of 3 chance of beingtreated with Everolimus and a 1 out of 3 chance of beingtreated with placebo (inactive “sugar pill”). Volunteers willhave medical checks including blood tests, and completetests of memory and thinking that are like quizzes andcomputer games.
Who should I contact to take part/for moreinformation?Dr Anurag Saxena, Clinical Research Fellow, Institute ofMedical Genetics, Cardiff University, Heath Park, Cardiff,CF14 4XNProfessor Julian Sampson, Clinical Professor of MedicalGenetics, Institute of Medical Genetics, CardiffUniversity,Heath Park, Cardiff, CF14 4XN
Phone: 02920746412 / 02920687608 Fax: 029 20746551Email: [email protected]: http://medicine.cf.ac.uk/cancer-genetics/medical-genetics/our-research/tuberous-sclerosis-and-mtor/clinical-trials/tron-trials-page/
Cardiff University - Genetic Causes of TuberousSclerosisWho can take part?Individuals with TSC who have undergone diagnostictesting and have not had a genetic mutation found in eitherof the genes which are known to cause TSC (TSC1 orTSC2). Where possible, we are also very keen to involveparents who are unaffected themselves, but who have a sonor daughter with TSC for which a genetic cause cannot befound. By involving unaffected parents in this study we willbe able to compare the genes of related family members tohelp to find a genetic cause for TSC.
Why is this study being done?The Institute of Medical Genetics, Cardiff University has setup this project which hopes to further understanding of thegenetic causes of Tuberous Sclerosis (TSC).
This project is using ‘next generation’ technologies whichare not currently used in diagnostic testing for TSC. Wehope to identify mutations in TSC1 and TSC2 that haveescaped detection by current testing methods. We are alsosearching for new genes which may cause the symptomsof TSC.
Who should I contact to take part/for moreinformation?Laura Thomas: [email protected], 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 drugMetformin will help the body control cell growth andshrink the size of hamartomas (lumps) in TS patients.
What will it involve?People with tuberous sclerosis aged 10-65 years, who haveone or more kidney angiomyolipomas (AML) of at least onecentimetre in largest diameter .
Study details:Metformin is a common medicine that has been used formany years in the treatment of diabetes. It has a good safetyrecord.
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 treatmentfor one year, and has six appointments (over 18 months) forassessments of their TSC. You would have scans of yourkidneys and brain, photographs of any tumours on yourface and fingernails, assessments of your epilepsy, of yourlearning, 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 [email protected] Hannah Edwards: 0117 342 0160
In the past, when membership forms were completed,we asked people what information they would like toreceive from us.
Over the last few years research into TSC has increasedand we want to make sure that those of you who want tohear, and possibly take part, know about it as soon aspossible. We have not asked you for some time if youwant to receive this information.
All of the research studies are led by a respected TSCresearcher, many of whom are Professional Advisers tothe TSA. All studies we help fund are carefully reviewedby the relevant ethical committees and the TSA. Yourcontact details are not passed on to any researcher; weforward their information to you. If you do go on toparticipate in a study, we ask that you let us know so wecan update your membership record.
If you do not want to receive TSC research information likethis 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 theresearch mailing list2. Write to us at TSA, PO Box 8001, Derby DE1 OYA3. Email us at [email protected]
A number of TSC research studies were presented at lastyear’s conference. For those of you who were unable toattend, we have included a summary of these in thefollowing list of studies which are actively recruiting. Weadvise you to contact the research team (who are all verynice and approachable – as well as keen to hear fromyou!) for questions about their particular research study,including practical arrangements about visits and detailsof who is able to take part.
We also update our website www.tuberous-sclerosis.orgwith items of research news and research studies, andinclude summaries in Scan. We hope you find this information useful and please donot hesitate to contact either of us if you have any queries.
Fiona McGlynnHead of Development and Support Services Jane CoxHead of Research
The TSA is currently supporting a number of studiesfinancially*, and there are others where we have beenapproached specifically to help with recruitment. Eitherway - the success of the research depends on yourwillingness to take part. The following 6 studies are alllooking 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 Birminghamarecurrently recruiting participants to two differentstudies.
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 todevelop social and communication difficulties which can
impact on their wellbeing and cause caregivers stress.Being able to identify those at risk early in life may aid earlyintervention strategies. Some differences in how childrenwith such difficulties perceive and process information canbe measured early in development using physiologicalmeasures such as EEG (a non-invasive method ofrecording electrical activity in the brain). Using EEG withchildren with TSC with and without social andcommunication difficulties could confirm whether theindicators suggested in past research differentiate thesechildren.
What will it involve?Children will view images and/or listen to sounds whilewearing an EEG cap. We will also carry out assessments ofability and you will fill out some questionnaires about yourchild. The study will involve visiting the university forbetween one and two days. You will receive anindividualised feedback report about your child’s results.
Who should I contact to take part/for moreinformation?Dr Lucy Wilde, School of Psychology, University ofBirmingham, Edgbaston, Birmingham, B15 2TT, 0121 4143861 or [email protected].
Study 2: Challenging behaviour in TSC*Who can take part?Children with TSC aged between 3 - 15 years who showchallenging behaviour and have an intellectual disability.
Why is this research being done?Previous research has suggested that some children withTSC have increased risk of developing challengingbehaviour (self-injury/aggression/property destruction).This can be difficult both for those showing the behaviourand those who care for them. We would like to understandmore about this type of behaviour in TSC and what factorsmight be related to it.
What will it involve?We will carry out assessments of your child’s challengingbehaviour and their level of ability. You will be asked to fillout some questionnaires about your child. This will involvea one or two day visit to the university, or we can visit you athome if more convenient. You will receive an individualisedfeedback report about your child’s results.
Who should I contact to take part/for moreinformation?Dr Lucy Wilde, School of Psychology, University ofBirmingham, Edgbaston, Birmingham, B15 2TT, 0121 4143861 or [email protected].
Kings College LondonTS 2000: Phase 2*
Who can take part?Families who have previously taken part in TS 2000Why is this research being done?TS 2000 is the first large-scale, long term study that we hopewill help us understand how and why differentcomplications arise in TSC. We are following 125 childrenand young people with TSC, to test how different risk
Take part in Research6 studies are looking for recruits
Our four TSC Advisers are part time, covering alarge geographical area. Depending on thesituation we’re asked to help with, our face to
face support may not always be possible because of ourdistance away from you.
If you call, please do leave a message as your advisercould be attending a meeting or supporting someoneaffected by TSC. As we’re not based in a central office, itwill only be your adviser who hears your message. IreneCraddy works regularly on a Monday evening form 5-8.30pm so if phoning someone in the evening is moreconvenient 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
Jayne Spinkis the Chief Executive of the TuberousSclerosis Association
PO Box 8001, Derby DE1 [email protected] 690 2288
CEO
Your contacts at the TSA
Fiona McGlynn Head ofDevelopment and Support Services, isresponsible for the TSA support services(TSA member events, SCAN, the TSAWebsite, Study Days, TSA informationleaflets and Support Services staff). Sheworks 28 hours per week.
PO Box 8001, Derby DE1 [email protected] 445 6970
Support Services
Chris JohnsonMembership andSupport Services Coordinator is the firstpoint of contact for families andprofessionals, either assisting thempersonally or re-directing them to therelevant member of staff whereappropriate. He works 21 hours per week.
PO Box 8001, Derby DE1 [email protected] 290 734
Irene Craddy covers the West and EastMidlands, Yorkshire counties and theHumber, Eastern England. She works 21hours per week.
PO Box 8001, Derby DE1 [email protected] 711 083
Fiona Clark covers the North East andNorth West England and Wales. She works 21hours per week
PO Box 8001, Derby DE1 [email protected] 427 872
Maureen Tossi covers Greater London,South East and South West England. Sheworks 28 hours per week.
PO Box 8001, Derby DE1 [email protected] 865 089
Lynn Shields covers Scotland. Sheworks 28 hours per week
PO Box 8728, Airdrie, Scotland ML6 [email protected] 608 257 - 07510 595 968
Janet BrewerHead of Fundraising is your contact forinformation on fundraising andgiving to the TSA.Janet works 28 hours per week.
PO Box 4538, Windsor SL4 [email protected] 842 362
Fundraising
Jane Cox is Head of Research, dealing withgrants, liaison with reseachers and arrangingTSA research conferences and meetings.She works 22.5 hours per week.
Research Office, Sussex Kidney Unit,Royal Sussex County Hospital, BN2 [email protected] 696 955 x3541
Research
Emma Damian-GrintCommunity Fundraising Manager is yourcontact for information on fundraising andgiving to the TSA.Emma works 21 hours per week.
PO Box 4538, Windsor SL4 [email protected] 842 362
Tuberous Sclerosis Association is a Company Limited by GuaranteeRegistered 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