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Tuberous Sclerosis Australia Reach Out Magazine October 2016

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<strong>Reach</strong><br />

<strong>Out</strong><br />

OCTOBER <strong>2016</strong> ISSUE 104<br />

Surviving<br />

an EEG<br />

p12<br />

Advances in<br />

Epilepsy p18<br />

Farewell<br />

Sienna<br />

p5<br />

TSC Heroes<br />

Success<br />

p28<br />

www.tsa.org.au


TSA News<br />

TSA News<br />

Contents<br />

Editorial<br />

Editorial................................................................................................. 3<br />

President’s Report................................................................................. 4<br />

Introducing Chelli................................................................................ 5<br />

Farewell Sienna..................................................................................... 5<br />

Learn more without leaving home..................................................... 6<br />

Hiatt family opens QLD disability conference ................................. 6<br />

Successful AGM.................................................................................... 6<br />

Just Between Us - TSC and Epilepsy................................................... 7<br />

Understanding epilepsy through an EEG........................................ 12<br />

<strong>Tuberous</strong> <strong>Sclerosis</strong> Complex (TSC) affects more than 2000<br />

individuals in <strong>Australia</strong> and thousands more carers, families and<br />

friends who live with the impact of the disease.<br />

TSC tumours can grow in any organ of the body, commonly affecting<br />

the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy,<br />

developmental delay and autism. There is no known cure for TSC, but<br />

with appropriate support most people with TSC can live fulfilling lives.<br />

<strong>Tuberous</strong> <strong>Sclerosis</strong> <strong>Australia</strong><br />

Works to connect, inform and empower people affected by tuberous<br />

sclerosis complex as we work towards a cure for TSC.<br />

TSA was established in 1981 as a volunteer organisation to connect families<br />

living with TSC. We have hundreds of members including people with TSC and<br />

their families along with health, education and caring professionals.<br />

Our priorities<br />

1: Improve health services for people with TSC<br />

2: Encourage research into TSC<br />

3: Publish and promote TSC information<br />

4: Provide direct support and facilitate peer support for people affected by TSC<br />

5: Ensure sustainable funding for our work<br />

6: Grow TSA as a reputable, well-governed organisation<br />

TSA information and support<br />

Visit our website for extensive information about TSC for individuals, their families and<br />

professionals www.tsa.org.au<br />

Call or email us to speak to one of our volunteers. We have regional contacts throughout <strong>Australia</strong><br />

who can meet face to face and connect you with local services<br />

1300 733 435 info@tsa.org.au<br />

Not in <strong>Australia</strong> or New Zealand?<br />

TSA is a founding member of <strong>Tuberous</strong> <strong>Sclerosis</strong> Complex International,<br />

a worldwide association of TSC organisations. The TSCi website<br />

contains a directory of TSC organisations around the world<br />

www.tscinternational.org<br />

New approach to treating babies with TSC......................................14<br />

Advances in epilepsy surgery.............................................................18<br />

Emerging treatments.......................................................................... 22<br />

Research News .................................................................................... 23<br />

Brainwave............................................................................................ 24<br />

Fundraising snapshot ........................................................................ 25<br />

Thank you to our supporters ........................................................... 27<br />

Could you be a TSC Hero?................................................................. 28<br />

President Debbie Crosby<br />

Vice President Vacant<br />

Treasurer Patrick Norris<br />

Secretary Alison McIvor<br />

Committee Members Adish Chandra<br />

Georgina Schilg<br />

Hayley Hill<br />

Jodie Conduit<br />

Michael Jones<br />

Michelle Purkiss<br />

Life Members Lynn Wilson OAM JP<br />

Andrew McKinnon JP<br />

Public Officer Debbie Crosby<br />

Medical Advisory Board Dr David Mowat,<br />

Clinical Geneticist<br />

Dr John Lawson,<br />

Paediatric Neurologist<br />

Dr Sean Kennedy<br />

Paediatric Nephrologist<br />

General Manager Clare Stuart<br />

Fundraising, Communications Chelli Edri<br />

and Events Manager<br />

2 <strong>Reach</strong><br />

OCTOBER <strong>2016</strong> ISSUE 104<br />

<strong>Out</strong><br />

Clare Stuart<br />

This is my first, and I hope my last,<br />

editorial in <strong>Reach</strong> <strong>Out</strong>. While I’ve<br />

enjoyed putting this issue together, the TSA<br />

team is definitely missing David Matheson,<br />

who edited this publication for over 15<br />

years. We’re still on the hunt for an editor<br />

who will take over the reins. For this issue I’ve<br />

been lucky enough to get help from volunteers<br />

Isabella and Kate. Isabella is a marketing<br />

professional living in Brisbane and also has TSC. Kate<br />

is studying health communications at Sydney University and<br />

has enjoyed learning about TSC through this volunteer role.<br />

Fortunately, there have been<br />

advancements in epilepsy research that<br />

mean that a baby born with TSC today<br />

has a much lower risk of developing<br />

medication resistant epilepsy<br />

The other person who has helped put this issue together is<br />

TSA’s new staff member, Chelli Edri. It’s a great achievement<br />

to have grown our paid staff to two and I look forward to<br />

growing our work and our team as Chelli ensures we have<br />

sustainable funding to do so.<br />

When we asked you in our 2014 survey what aspects of<br />

TSC had the biggest impact on your lives, epilepsy ranked very<br />

high on that list. Researchers generally estimate that up to 90%<br />

of people with TSC will have seizures at some point in their<br />

lives; and around half of these will not be able to be controlled<br />

with medication. Fortunately, there have been advancements<br />

in epilepsy research that mean a baby born with<br />

TSC today has a much lower risk of developing<br />

medication resistant epilepsy than previously.<br />

There are also new treatment options for older<br />

people with TSC. An active TSC research<br />

program gives us a healthy optimism that the<br />

future is bright. This issue profiles some of<br />

these advances with interviews with two of our<br />

dedicated <strong>Australia</strong>n TSC clinician researchers.<br />

My own sister, Elizabeth Pinkerton, lived<br />

with seizures most of her life. My Mum, Sue,<br />

thinks Lizzie probably had a seizure on the day she<br />

was born. As I grew up, I observed that when we managed<br />

to get control of her epilepsy, Lizzie made huge leaps in her<br />

learning and even started saying some simple words. When<br />

those seizures came back, they came back fiercely and we saw<br />

Lizzie’s skills deteriorate. I can only imagine how her life would<br />

have been had her brain had the chance to develop without<br />

being interrupted by seizures. Hearing about the advances<br />

being made in preventative treatments does make me grieve<br />

that we didn’t have those options for Lizzie. It also makes me<br />

proud to be part of a community of people around the world<br />

who have worked so hard to change the course of this disease<br />

in just a generation: scientists, doctors, patients, families,<br />

advocates, fundraisers and donors.<br />

Thank you to all the contributors to this issue including<br />

the professionals who gave their time to be interviewed and the<br />

people with TSC who wrote about their experiences. Please send<br />

me an email if you have ideas for <strong>Reach</strong> <strong>Out</strong> or want to share<br />

your story. Our next issue will focus on telehealth, so perhaps<br />

you have an experience, opinion or idea to share with the TSC<br />

community around this vast country.<br />

Clare Stuart, general manager of TSA and temporary editor of this<br />

issue of <strong>Reach</strong> <strong>Out</strong>.<br />

<strong>Reach</strong> <strong>Out</strong> Official journal of <strong>Tuberous</strong> <strong>Sclerosis</strong><br />

<strong>Australia</strong>, Inc.<br />

18 Central Rd, Beverly Hills NSW 2209<br />

Telephone: 1300 733 435<br />

Website: www.tsa.org.au<br />

Email: info@tsa.org.au<br />

ABN 20 681 174 734<br />

Incorporation no. Y 07116-42<br />

Registered Charity CC25313<br />

Disclaimer<br />

The opinions expressed in this journal are those of the<br />

authors and are not official pronouncements of TSA Inc.<br />

Permission<br />

Permission must be sought from the authors or publishers<br />

to reproduce in any way articles or information contained in<br />

this journal. Once permission is received the source must be<br />

acknowledged.<br />

3


TSA News<br />

TSA News<br />

President’s Report<br />

Debbie Crosby<br />

Welcome to another fantastic issue<br />

of <strong>Reach</strong> <strong>Out</strong>. I would firstly like to<br />

thank our general manager Clare Stuart for<br />

the outstanding work she has done on <strong>Reach</strong><br />

<strong>Out</strong>. We are currently trying to recruit a<br />

volunteer as editor of <strong>Reach</strong> <strong>Out</strong>. Clare<br />

has stepped up and not only edited the past<br />

two issues of the magazine but she has also<br />

researched and written articles for the issues.<br />

If you or someone you know would like to<br />

volunteer as editor please contact us.<br />

This past financial year has been a<br />

very successful year for TSA and we are<br />

looking forward to the future. At our<br />

AGM in September we celebrated our<br />

accomplishments and discussed our future<br />

plans for the organisation. I would like<br />

to thank all of our committee members<br />

who commit their time to support, advise<br />

and work for TSA. I would also like to<br />

acknowledge our regional contacts who are<br />

always willing to help support people living<br />

with TSC and their families in their state.<br />

Without this group of committed people<br />

TSA would not be able to achieve its vision<br />

to connect, inform and empower people<br />

affected by tuberous sclerosis complex as<br />

we work towards a cure for TSC.<br />

Our longest standing regional<br />

contact, Sue Williamson in Perth, has<br />

decided to step down from this role. Sue<br />

has contributed to TSA for over twenty<br />

years, supporting many families around<br />

Western <strong>Australia</strong>, assisting with TSA’s<br />

events in Perth, fundraising, and providing<br />

valuable feedback to the TSA Management<br />

Committee and staff. Sue continues to<br />

represent TSA on the board of Genetic and<br />

Rare Diseases Network (GARDN) and<br />

assists with other TSA projects. In recent<br />

years Sue has shared the role of regional<br />

contact with Nicole Stone and Nicole will<br />

continue in this role. Thank you to Sue for<br />

your huge contribution to TSA.<br />

Our focus this past year has been on<br />

fundraising, to ensure we can support all<br />

of the goals in our strategic plan and to<br />

grow our organisation. I would like to<br />

welcome Chelli Edri, our new fundraising,<br />

communications and events manager<br />

to the organisation. We look forward to<br />

working with Chelli and achieving our<br />

fundraising goals.<br />

It has been amazing to see so many<br />

people from our TSC community raising<br />

much needed funds and awareness of TSC.<br />

I would like to thank and acknowledge<br />

the outstanding fundraising efforts of our<br />

TSC Heroes from all around <strong>Australia</strong>. A<br />

big thank you to Miranda King and her<br />

family and friends from Brisbane, who<br />

raised over $8,000 from their trivia night.<br />

A spectacular effort!<br />

Many of our TSC Heroes also put<br />

their bodies on the line and train hard<br />

for fun runs and triathlons. Thank<br />

you to Belinda who ran the City to Surf<br />

in Sydney, and with the support of her<br />

employer raised over $1,500. Thanks<br />

to Isabella and Wesley who raised<br />

$1700 in the Bridge2Brisbane run. And<br />

in Perth, Annabel and her team raised<br />

$1400 at the HBF Run for a Reason event.<br />

It was great to see all of you with your<br />

TSC Heroes t-shirts representing TSA.<br />

We also look forward to supporting Jeff<br />

and Elliot in the Western Sydney Half<br />

Marathon that will be held in November.<br />

Last time their amazing group of friends<br />

and family raised over $40,000. Good<br />

luck and we will be cheering you on. To<br />

learn more about the TSC Heroes and<br />

upcoming events check out our TSC<br />

Heroes Facebook page.<br />

The third annual Lizzie’s lunch<br />

raised over $16,000 and each year it just<br />

gets better and better. Thank you to the<br />

Pinkerton family who help organise this<br />

event and to their family and friends<br />

for their ongoing support of TSA. If<br />

you would like organise an event please<br />

contact us at info@tsa.org.au<br />

Our focus this past year has been on fundraising,<br />

to ensure we can support all of the goals in our strategic<br />

plan and to grow our organisation<br />

The TSA committee and I are very<br />

proud of the amazing effort and energy<br />

people living with TSC and their families<br />

go to in supporting our organisation.<br />

Giving back and supporting our TSC<br />

community helps TSA support all of our<br />

members and their extended families.<br />

Introducing Chelli<br />

Chelli Edri joined TSA in June <strong>2016</strong><br />

as our part-time fundraising,<br />

communications and events manager.<br />

After a successful career in sales and<br />

marketing, Chelli comes to TSA with<br />

experience in design and publishing<br />

and a drive to apply her skills to help<br />

families living with TSC. Chelli has<br />

a BFA in photography, works as a<br />

professional photographer, and has postgraduate<br />

qualifications in advertising<br />

and marketing.<br />

Chelli is also a single mum to 3 year<br />

old Ariela who was suspected of TSC at<br />

birth however not formally diagnosed<br />

with TSC until June 2015.<br />

“Having a child with TSC is one of<br />

the scariest things that has ever happened<br />

to me. It has been a lonely journey,<br />

as I haven’t had the luxury of having<br />

someone by my side throughout the<br />

many hospital visits and during decision<br />

making times. Having a child with TSC<br />

suddenly means you are not only caring<br />

for someone, you are also making health<br />

decisions that could potentially affect<br />

the rest of their lives. Having a child with<br />

TSC, also puts me in a unique position<br />

of really understanding what the carers<br />

of children with TSC go through and, I<br />

hope, will make me a better fundraiser.<br />

I didn’t find TSA until quite late in our<br />

TSC journey. I am passionate about raising<br />

the public profile of TSA so more families<br />

are introduced to TSA as soon as TSC is<br />

suspected. I believe strongly in the work that<br />

Tell us what you think<br />

As we grow TSA, we need your help. We<br />

want to know what you think about<br />

TSA’s work, the way we communicate with<br />

you and how we fundraise.<br />

Farewell Sienna<br />

The Goong family in Queensland said a sad<br />

goodbye to Sienna Tamara Goong, known<br />

as “CC” on 19th July. Sienna was only 10 years<br />

old and her death was due to complications of<br />

tuberous sclerosis.<br />

From Tamara, Sienna’s Mum: “Our<br />

beautiful CC learnt to fly. She was surrounded<br />

by her loving family and went peacefully.<br />

Sienna has fought a tough battle and was always<br />

so brave. She had a fighting spirit. We will<br />

cherish our memories and always feel so grateful<br />

for her love.”<br />

Thank you to Sienna’s family and friends<br />

for donating in her memory to both TSA and<br />

Redlands Special School. Over $1500 was<br />

donated to TSA as a tribute to Sienna’s life.<br />

Everyone that fills out the survey online<br />

and provides their contact information<br />

will go into a draw for a double pass to<br />

the cinema of their choice.<br />

TSA does and I hope to be able to support<br />

community fundraisers as together we raise<br />

money to support the TSC community and<br />

ultimately find a cure.”<br />

To get involved with fundraising for<br />

TSA, please contact chelli@tsa.org.au<br />

Fill in the survey now at<br />

www.tsa.org.au/survey<br />

<strong>Reach</strong><br />

<strong>Out</strong><br />

4<br />

5


Events<br />

Personal Stories<br />

Learn more about<br />

tuberous sclerosis<br />

without leaving home<br />

TSA has received a grant to pilot putting our popular education<br />

events online. We know that not everyone living with TSC<br />

wants to meet others face to face and not everyone can travel to the<br />

locations we hold our events. We want to see if a virtual event, such<br />

as a webinar or teleconference, is an effective way to help people<br />

with TSC improve their knowledge of the condition in a way that<br />

helps them manage their TSC.<br />

We plan to hold two online events over the next six months.<br />

We want your input to make sure we get the topics and logistics<br />

right. Contribute to our <strong>2016</strong> survey at www.tsa.org.au/survey<br />

We look forward to having you join one of our online events soon.<br />

Save the<br />

Date:<br />

May 14th and 15th 2017<br />

<strong>Tuberous</strong> <strong>Sclerosis</strong> Complex Global<br />

Awareness Day will again be held on<br />

May 15. Our <strong>Australia</strong>-wide picnic day<br />

will be Sunday May 14. Check out<br />

the next issue of <strong>Reach</strong> <strong>Out</strong> for all<br />

your global awareness day<br />

information.<br />

Hiatt family opens QLD disability conference<br />

In August, Fiona and Mark Hiatt<br />

opened the networking session<br />

of the Queensland Disability<br />

Conference in Cairns. They spoke<br />

about their experiences as Alex’s<br />

parents and how they have worked<br />

with various organisations to support<br />

him. Alex Hiatt, who has TSC, also<br />

The annual general meeting (AGM)<br />

of <strong>Tuberous</strong> <strong>Sclerosis</strong> <strong>Australia</strong> Inc<br />

was held on September 18 in Sydney.<br />

The event celebrated the achievements<br />

of TSA during the 2015/16 year and<br />

was a great chance to discuss the work<br />

planned for <strong>2016</strong>/17.<br />

Thank you to everyone who came<br />

along and enjoyed a light supper<br />

afterwards.<br />

Enclosed with your printed copy of<br />

this issue of <strong>Reach</strong> <strong>Out</strong> is a copy of our<br />

annual report. The report summarises<br />

our work for the year and explains why<br />

your financial support is so important.<br />

All of our annual reports can be viewed<br />

online at: www.tsa.org.au/about-us/<br />

annual-reports/<br />

had several of his artworks exhibited<br />

as part of the conference.<br />

Thank you to Fiona, our regional<br />

contact in far north Queensland, and<br />

the Hiatt family for their continued<br />

work raising awareness of TSC. You<br />

can learn more about Alex at<br />

www.tsa.org.au/alex<br />

Successful AGM and dinner event in Sydney<br />

Members of the management committee:<br />

Michelle Purkiss, Debbie Crosby, Michael<br />

Jones, Alison McIvor<br />

Alex Hiatt with Hon Coralee<br />

O’Rourke, QLD Minister for<br />

Disability Services<br />

Just Between Us<br />

TSC and Epilepsy<br />

Oliver’s TSC Story<br />

was born in 1987 in St Thomas’ Hospital in London, England.<br />

I When I was seven months old I started having infantile<br />

spasms. My mum had to fight to get medical attention for me<br />

as I seemed to stop having the seizures as soon as there was a<br />

doctor in the room! She remembers saying “I am not leaving this<br />

hospital until I know what is going on,” despite being assured by<br />

the doctors and nurses that I was a normally developing baby.<br />

Eventually I was admitted and tests revealed the TSC tubers<br />

in my brain and the ash leaf patches on my skin. This led to a<br />

diagnosis of tuberous sclerosis complex (TSC). They also found<br />

a non-aggressive tumour behind my heart, which I now believe<br />

must have been a rhabdomyoma.<br />

My epilepsy was treated with Valium (diazepam) injections<br />

and I was eventually seizure free for 15 years.<br />

Mum recognised that I was not meeting my developmental<br />

milestones, as a baby. She implemented a type of therapy for<br />

me called patterning*. This improved my motor skills and we<br />

believe it also helped my brain to develop.<br />

Mum and I moved to <strong>Australia</strong> and I completed my education<br />

in Tamworth, NSW. I was teased and picked on at school,<br />

including for my facial angiofibromas. I knew that this was<br />

because of my TSC but the kids at school did not.<br />

After 15 years seizure free I started to have gelastic seizures,<br />

commonly known as laughing seizures. I also developed complex<br />

I try hard to have a positive<br />

outlook and I believe life is meant to<br />

be enjoyed.<br />

partial seizures and would generally have seizures when I had<br />

a high fever when I was sick. A new medication, Zonegran<br />

(zonisamide), was introduced to help with these.<br />

I moved to Brisbane in 2008 and this was an arduous and<br />

stressful time in my life. I had my first generalised tonic-clonic<br />

seizure (previously called a grand mal seizure) around that time<br />

and a new medicine was introduced, Lamictal (lamotrigine) and<br />

since then I have not had any major seizures. I have found a great<br />

neurologist and GP here in Brisbane and they are a great help to me.<br />

Because of my history of<br />

epilepsy, I cannot drive and catch<br />

public transport everywhere. The<br />

doctors tell me that I will be on<br />

my epilepsy medication my whole<br />

life. I know that anything can<br />

change in the future, so I’m not<br />

so sure of that. At the moment<br />

though, as long as I take my medication I do not have seizures.<br />

Overall I would describe my experience with TSC and epilepsy<br />

as humbling. I am on my journey with these two conditions<br />

and it is not easy. I do have my down days when I find out bad<br />

news related to my health. For example, we are now watching<br />

the slow growing, non-aggressive tumours in both my heart<br />

(rhabdomyomas) and my kidneys (an angiomyolipoma or AML).<br />

However, I draw inspiration from others I know with epilepsy<br />

and/or TSC. This includes David Matheson (a TSA volunteer),<br />

who is an inspiration to me. I try hard to have a positive outlook<br />

and I believe life is meant to be enjoyed.<br />

I play the drums, including the conga drums. I am an active<br />

member of my church community and my faith in Jesus helps<br />

me through the struggles I have with my TSC and epilepsy. I<br />

volunteer my time with Epilepsy Queensland doing paperwork<br />

and I am also a member of their epilepsy support group. I eat very<br />

healthily and am famous for my salads. A recent achievement I am<br />

proud of is buying my own house along with my Mum. I want to<br />

meet others with TSC and look forward to working with TSA to<br />

form a young adults support group.<br />

For more information on patterning, please see www.researchautism.<br />

net/interventions/17/patterning-therapies-and-autism.<br />

6 <strong>Reach</strong><br />

OCTOBER <strong>2016</strong> ISSUE 104<br />

<strong>Out</strong><br />

7


Personal Stories<br />

Personal Stories<br />

Sophie’s Story<br />

Georgina Schilg, Sophie’s Mum<br />

Ariela’s Story<br />

Chelli Edri, Ariela’s mum<br />

Ariela was suspected of TSC at birth due to multiple white<br />

patches (hypomelanotic macules) on her skin. She wasn’t<br />

presenting with any other symptoms and TSC wasn’t even<br />

mentioned until she was about eight weeks old. It was really just<br />

a waiting game to see what would present.<br />

When Ariela was three months old her kidneys were checked<br />

and all was fine and talk of multiple birth marks started. At six<br />

months, a heart tuber was found. I sought a second opinion on her<br />

skin and consulted a geneticist on the possibility of TSC. Because<br />

Ariela seemed perfectly healthy, I had to wait until she was over<br />

two for an MRI to confirm if it was in fact TSC or not. At 2.5<br />

years, the MRI confirmed tuberous sclerosis complex with the<br />

presence of a SEGA and tubers.<br />

One of the hardest things I have found with TSC is not knowing<br />

how things will play out, and at the same time, knowing I am<br />

making potentially life changing decisions for my child. It’s a huge<br />

responsibility. I have to weigh up impacts on her quality of life with<br />

potential benefits of treatment.<br />

For any parent with a child presenting minor or occasional<br />

seizures who meets all their milestones it is hard to know the best<br />

course of action and even harder for specialists to advocate one<br />

option over another. While medication was presented as a possible<br />

option as soon as the SEGA was discovered, at the time it was a<br />

borderline option due to minimal symptoms; so at that point, I<br />

chose to protect her quality of life.<br />

From the very day Ariela was formally diagnosed, I stopped<br />

leaving her in the care of paid babysitters and became extremely<br />

careful who, out of my close family and friends would mind her<br />

when I wasn’t around. Having a child who may be having seizures<br />

is a massive responsibility especially as some of the seizures are<br />

hard to identify. This puts a lot of pressure on any carer.<br />

As Ariela has gotten older, she has developed mild autism<br />

yet seizures are rare. For this reason, I still feel as if I am in the<br />

calm before the storm and we are waiting for our next EEG to<br />

see if there is new seizure activity or not. I say we, as when you<br />

are a parent, what happens to your child is actually happening<br />

to you at the same time.<br />

TSC also becomes tricky when considering how much<br />

information to disclose to daycare providers. I still remember<br />

One of the hardest things I have<br />

found with TSC is not knowing how<br />

things will play out<br />

the day I explained to the staff at her current daycare what<br />

TSC was, what a possible seizure might look like, and that<br />

they could call me any time if they suspected anything. The<br />

Director initially was quite concerned and, as a result, I spent a<br />

lot of time being available and around when she first stated to<br />

make sure the staff were ok with her. I still spend time there on<br />

a regular basis.<br />

Ariela is a very happy little girl who is always laughing<br />

and really enjoys life. She is not old enough to know about<br />

her condition, so for now I’m just thankful hospitals have<br />

such great play areas and toys. I hope we never get to the stage<br />

where we need to consider medication or surgery however as<br />

optimistic as I am, I realise if seizures become frequent or if<br />

our next MRI shows her SEGA has grown, we will have to. So<br />

right now we are in the calm before the next TSC storm, and<br />

have no idea what the future holds.<br />

Our Sophie is eight years old and began having seizures at<br />

nine months of age. These were our first indication that<br />

something was wrong and so began our journey into the world<br />

of <strong>Tuberous</strong> <strong>Sclerosis</strong> Complex and Epilepsy. Since then Sophie<br />

has been on several different medications to control her seizures,<br />

had multiple EEGs, done several video EEG stays and has had<br />

neurosurgery to remove several tubers.<br />

We live in northern Tasmania, where there are no resident<br />

paediatric neurologists. For the past three years we have gained<br />

the services of a paediatric neurologist based in Hobart who<br />

travels to Launceston every so often, and prior to this we relied on<br />

neurology clinics at Royal Children’s Hospital Melbourne. Thus<br />

we have made many trips to Melbourne for various appointments,<br />

reviews, tests and surgery.<br />

Sophie is aware of her seizures<br />

and has an aura before the onset of her<br />

regular seizure type.<br />

Sophie suffers complex partial seizures. Medications control<br />

her seizures quite well at present, and she is lucky in that she<br />

does not suffer too much from the potential side effects of these,<br />

although it is something that we continue to observe for. In<br />

particular we continue to have regular ophthalmology reviews<br />

and yearly electro-retinography to monitor any decrease in her<br />

visual fields as a result of one of the medications she takes, called<br />

Sabril (vigabatrin).<br />

Epilepsy is something we live with every day. We are very<br />

thankful that Sophie is happy to take her two medicines twice<br />

each day. We talk to her younger brother about Sophie’s seizures,<br />

about seizure safety and how he can help her if need be. Sophie<br />

is aware of her seizures and has an aura before the onset of her<br />

regular seizure type. Sometimes when tucking her into bed, she<br />

will ask if she will have a seizure that night, and comment that she<br />

does not like seizures. These questions are hard to answer – there<br />

is no knowing when the next seizure will be, or how long it will go<br />

for, and yet she remains brave and simply gets on with life.<br />

Sophie’s epilepsy means that I am extra cautious about<br />

leaving her places, as I need to ensure the other responsible adults<br />

are aware of the potential for a seizure, and to ensure that they<br />

are confident in managing this. It also means I am particularly<br />

cautious with activities such as swimming. However, Sophie’s<br />

epilepsy and TSC does not stop her from trying most things.<br />

She loves riding her bike and scooter, enjoys dancing and<br />

running and will give anything a go.<br />

8<br />

<strong>Reach</strong><br />

<strong>Out</strong><br />

OCTOBER <strong>2016</strong> ISSUE 104<br />

9


Personal Stories<br />

Personal Stories<br />

Bump head hospital ow!<br />

Liam’s epilepsy surgery<br />

Selina Spowat. Selina writes about her family<br />

at www.happychinblog.wordpress.com<br />

’ve got a great idea,” I said to my husband in 2013.<br />

“I“Let’s gather all the things Liam hates most in one<br />

place – loud noises and bright lights, needles, tubes and<br />

wires randomly inserted in or attached to him by people<br />

he doesn’t know, pain he doesn’t understand, little or<br />

no control over what’s going to happen next, bad food,<br />

uncomfortable beds and no access to a nearby fridge. Then<br />

let’s take him to spend three weeks there.”<br />

No, I didn’t really say this, but I might as well have.<br />

Because we were going to hospital for a major operation on<br />

Liam’s brain.<br />

Any parent who’s ever been in hospital with a child knows<br />

exactly how stressful it is. We’d only ever been for MRIs,<br />

but these were conducted under general anaesthetic, usually<br />

involving one of us sitting on Liam while the other pinned<br />

his legs down, the anaesthetist ducking and weaving like<br />

Muhammed Ali trying to get the cannula in. The bigger Liam<br />

got, the harder it became to get him under, so the drug payload<br />

kept getting ramped up.<br />

This was an operation that would<br />

take 12 hours and would open his whole<br />

brain in an attempt to remove a large<br />

tuber on his right frontal lobe<br />

But major neurosurgery was another thing altogether. This<br />

was an operation that would take 12 hours and would open his<br />

whole brain in an attempt to remove a large tuber on his right<br />

frontal lobe, which appeared to be the source of his seizures. EEG<br />

wires would be attached to the tuber and MRI tests conducted<br />

throughout the operation to make sure the surgeon got as much of<br />

the tuber as possible, along with any other smaller ones showing<br />

up on the scans. If successful, the operation could dramatically<br />

reduce Liam’s seizures and give him a much better quality of<br />

life. However, it was carefully explained to us that even with<br />

the offending tubers gone, he might still experience seizures, as<br />

the brain had 18 years of deeply ingrained seizure patterns. We<br />

weren’t to hope for developmental changes, that ship had sailed<br />

for Liam, we were told.<br />

We decided to be optimistic. Even if we could eventually<br />

wean him off some of his anti-convulsants, surely that would<br />

be worth it for him? The side effects from these drugs were<br />

many and unpleasant.<br />

How little we knew of what was to come in the weeks<br />

ahead, and how fortunate we didn’t know! I for one would<br />

never have had the courage to go ahead. If I had known, I also<br />

would have packed:<br />

• Valium (because you can’t really go taking your child’s<br />

Valium in the hospital, it’s not a good look)<br />

• Three weeks’ worth of home-cooked meals in<br />

takeaway containers<br />

• My mother (she had sadly died seven years earlier, but boy<br />

she would’ve been handy to have! My sister did fly down<br />

from Queensland for five days which was brilliant, but more<br />

on that later)<br />

• At least 25 dolphin and fish shaped helium party balloons<br />

• Two of those big puffy jackets for us to wear (Liam scratched<br />

the hell out of our arms during the first week while he was<br />

fighting whatever procedure it was he didn’t want)<br />

• A really experienced psych nurse, preferably one with a good<br />

working knowledge of the Vulcan nerve pinch. We were<br />

actually assigned a psych nurse after the third day, as things<br />

had gotten pretty hairy by then, but Liam promptly decided<br />

to settle down and the poor man just sat outside the room,<br />

waiting for something to happen and listening to music on<br />

his iPod<br />

• The Wiggles (only for the first two or three days, to distract<br />

Liam from ripping off his bandages. I reckon we might not have<br />

had to splint his arms to the bed if the Wiggles had been there)<br />

• Bob the Builder (to repair all the bits of the hospital<br />

that he broke)<br />

• Bob the Bartender (for me and my husband)<br />

• A suitcase full of chocolates for the incredible nursing staff<br />

In any event, to borrow a line from Marvin the Paranoid<br />

Android, the first three million years were the worst. Actually,<br />

it was more like three days, but time goes very slowly in<br />

hospital. Our brave boy had come through like a trooper, with<br />

a tuber the size of a plum removed that had been sparking off<br />

seizure activity every two minutes. Imagine living with that for<br />

18 years! Every time you went to do or think something you’d<br />

be interrupted by brain noise, a kind of 24 hour insomnia. A<br />

Grand Central Station of the mind.<br />

The first three days post-surgery included Liam ripping his<br />

surgical dressing off, pulling out his arterial IV line and being<br />

so puffy his eyes swelled shut. But by day four and five, Liam<br />

was back. No longer encumbered with bandages and drips, he<br />

was free to wander about the ward.<br />

The Paediatric Neurology nurses at Melbourne Children’s<br />

are some of the most flexible, unflappable, innovative and<br />

compassionate people I have ever met. At every stage they<br />

worked with us to create solutions, they were calm and they<br />

listened. They asked us our opinion, and were genuinely<br />

receptive to suggestions. We were forced to be extremely<br />

creative with Liam’s care, some things (like an ECG) were<br />

just impossible, but even though he was without a doubt<br />

an extremely challenging patient, we never felt it was any<br />

bother to them. My hat was off to them three years ago and<br />

it remains off. I must remember to give them a pay rise when<br />

I’m in charge.<br />

Nearly three years on, Liam still has his zigzag scar as a<br />

reminder of that harrowing couple of weeks. When he looks<br />

back at photos of the trip he says “Bump head hospital ow!”<br />

I don’t think he understands what an ‘operation’ is. He thinks<br />

he bumped his head and woke up with an ‘Ow’ in hospital.<br />

The first MRI scan (under general anaesthetic) after<br />

neurosurgery was fairly fraught. By his level of agitation<br />

beforehand, I’m sure Liam thought he was going to bump<br />

his head again while he was under and wake up splinted to<br />

the bed, with a 10 inch scar and tubes everywhere. He’s had<br />

three general anaesthetics since then, and the memory is<br />

slowly fading.<br />

While we were in hospital I met a mother whose 16 year<br />

old son had a brain tumour. They’d been through four lots of<br />

neurosurgery in three years. The prognosis wasn’t good. I can’t<br />

even imagine what that must have been like. We feel very lucky<br />

to have our Liam well and bouncing round the place, being<br />

weaned off so many medications that are no longer necessary.<br />

Despite the neurologist’s prediction (or perhaps because of it,<br />

Liam doesn’t like being told he can’t do stuff), he has made<br />

some major developmental leaps, has improved language<br />

and communication skills and his aggressive behaviours are<br />

massively reduced.<br />

We had to fight hard to get him this life changing operation<br />

and it was without doubt the hardest three weeks of my life. On<br />

several occasions we just broke down and cried together over<br />

what we had done to our boy. Even now, the sight of that scar<br />

can reduce us both to tears.<br />

At one particularly low point I remember thinking, “This<br />

is much too hard. I can’t do this anymore, I’ve changed my<br />

mind.” But we got through it, and as a result I’m not much<br />

scared of tough things anymore.<br />

10<br />

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<strong>Out</strong><br />

OCTOBER <strong>2016</strong> ISSUE 104<br />

11


Information<br />

Information<br />

Understanding epilepsy<br />

through an EEG<br />

Max<br />

Thank you to all<br />

the families who<br />

contributed photos of<br />

their children having<br />

electroencephalogram<br />

tests to illustrate<br />

these articles.”<br />

Matilda, VIC<br />

Debbie Crosby and Georgina Schilg, parents of<br />

children with TSC and epilepsy<br />

Lachlan, QLD<br />

What is an EEG?<br />

Approximately 75% – 90% of people with<br />

TSC will have epilepsy at some point in<br />

their life. Epilepsy occurs in TSC because<br />

the areas of abnormal brain development<br />

contain abnormal nerve cells. These nerve<br />

cells have abnormal bursts of electrical<br />

activity which cause the seizures.<br />

The most common type of test done to<br />

diagnose epilepsy and to understand the<br />

type of epilepsy is an EEG. EEG stands for<br />

electroencephalogram and it is a painless<br />

test that records the brain’s electrical<br />

activity, sometimes called brain waves. If<br />

a person is thought to be having seizures,<br />

they are referred to a clinic to have an EEG.<br />

What is VEM?<br />

Children or adults with uncontrolled<br />

epilepsy sometimes undergo a detailed EEG<br />

called video EEG monitoring (VEM) or<br />

telemetry to accurately localise the source<br />

and determine the cause of their seizures.<br />

The main reasons people undergo<br />

VEM are:<br />

• to distinguish epileptic seizures from<br />

episodes that may mimic epileptic<br />

seizures<br />

• to characterise the type or types of<br />

seizures that a person is having<br />

• to localise the part of the brain from<br />

where a person’s seizures are arising<br />

This is a more sophisticated method of<br />

recording the EEG over long periods, which<br />

uses both EEG and video recording. This is<br />

done in hospital, either on one of the wards<br />

or in a specialised unit.<br />

This procedure aims to simultaneously<br />

record a person’s seizures by video while<br />

an EEG is performed. How long the study<br />

takes varies according to seizure frequency<br />

and may take several hours, overnight, or<br />

up to 3-5 days. This combined information<br />

is valuable in diagnosis and understanding<br />

a person’s seizures. The advantage over<br />

routine EEG is the neurologist is able to<br />

study exactly what happens during any<br />

seizures on the video and match this up<br />

with the simultaneous EEG recording.<br />

The results may assist the neurologist with<br />

prescribing specific antiepileptic medications<br />

depending on which area of the brain<br />

the seizures are occurring.<br />

This type of EEG can also assist in determining<br />

if the person can be treated with<br />

surgery. Seizure surgery is most successful<br />

when you can identify the precise area in<br />

the brain where seizures originate from.<br />

The electrodes are attached on the<br />

first day of monitoring and will remain<br />

until VEM is finished. The electrodes are<br />

connected to a small recording unit which<br />

is contained in a soft pouch that is worn<br />

around the waist. Occasionally a bandage<br />

might be put over the person’s head if he or<br />

she keeps playing at the electrodes.<br />

VEM is quite restricting as it is usually<br />

done in a small room and children will<br />

need to stay in bed or in a chair, in constant<br />

view of the camera at all times. This<br />

includes during meals, sleep and play. A<br />

parent or guardian is required to stay with<br />

a child at all times, and keeping the child<br />

occupied and on camera is often the most<br />

difficult part of VEM.<br />

Children and adults who have TSC<br />

may also have a diagnosis of autism,<br />

intellectual disability or have challenging<br />

behaviours. As many carers would attest<br />

to, many medical tests and procedures can<br />

be challenging for our children. It may be<br />

difficult keeping the person still when the<br />

electrodes are attached or they may become<br />

anxious or irritable. We have spoken to<br />

many parents and carers who have concerns<br />

about VEM and the following tips<br />

may be helpful.<br />

Debbie and Georgina’s tips for<br />

surviving an EEG and VEM<br />

• Parent/carer to remain positive and<br />

calm about the upcoming EEG and<br />

try not to verbally express concerns in<br />

front of the person having the EEG.<br />

Children can easily pick up on the<br />

anxiety, nervousness or negativity that<br />

may be expressed:<br />

• Aim to get to the appointment in<br />

plenty of time, so that you remain<br />

relaxed and not flustered and can do<br />

something nice with your child like<br />

read a book, play a game, do a puzzle<br />

or draw before the EEG begins:<br />

• Follow any instructions given to you<br />

at the time of booking, such as washing<br />

hair the night before, or day of<br />

the EEG as following these instructions<br />

enables the technicians to have<br />

the best chance of obtaining the best<br />

quality data in the shortest time. Not<br />

so clean hair, means electrodes may<br />

not stick as well, reduced quality data,<br />

may take longer, or worst case scenario<br />

have to repeat EEG another day:<br />

• Take several different activities to<br />

try and keep the child entertained/<br />

distracted before and throughout the<br />

procedure. Books, toys, craft, snacks,<br />

an IPAD or portable DVD/CD player<br />

will help make your child comfortable<br />

and keep them occupied. Many hospitals<br />

have play therapists that are able<br />

to come in and help and also supply<br />

you with different toys:<br />

• If possible have more than one parent/<br />

carer to attend the appointment. You<br />

may require two people to keep your<br />

child calm and occupied while they<br />

are having the electrodes attached. As<br />

you will be spending so much time<br />

confined in a small room with your<br />

child, you will also need to take a<br />

break. Even just going outside for a<br />

walk in the fresh air, eating lunch in<br />

peace or catching up on sleep helps<br />

the main carer to take a break. It is<br />

understandable that this is not always<br />

possible due to other family commitments<br />

(children), work or travel.<br />

Some hospitals do have volunteers,<br />

Mia<br />

Oliver, NSW<br />

so you can ask their availability and<br />

they may be able to assist you to take a<br />

short break:<br />

• Parents/carers are provided with<br />

a bed if you are staying overnight.<br />

Packing some comfortable clothes<br />

and packing a pillow for yourself,<br />

may help you in getting some sleep:<br />

• Packing some easy snacks for you and<br />

your child, such as muesli bars, fruit,<br />

cup-a-soup, sandwiches and herbal<br />

teas. The patient will have meals<br />

provided, but you won’t be<br />

and it is sometimes difficult to find<br />

time or to find where to buy food in<br />

the hospital:<br />

• Please check with your child’s neurologist<br />

prior to admission, what the<br />

arrangements are for your child’s<br />

medication. Your child’s medication<br />

should be brought with you to<br />

ensure that the correct medications,<br />

strengths and doses are prescribed<br />

during the VEM.<br />

12<br />

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13


Information<br />

Information<br />

New approach to treating<br />

epilepsy in babies with TSC<br />

shows promising early results<br />

From an interview with Dr Kate Riney, paediatric<br />

neurologist and TSC clinic lead at Lady Cilento<br />

Children’s Hospital, Brisbane<br />

Lachlan, QLD<br />

Can you describe this new approach to treating infants<br />

with tuberous sclerosis?<br />

The new approach is to look at the electroencephalogram (EEG)<br />

of babies with TSC before they’ve had a clinical seizure. A clinical<br />

seizure is one we can recognise just by looking at the baby. Some<br />

babies are diagnosed with TSC after the discovery of cardiac<br />

rhabdomyomas (a growth in the heart associated with TSC) in<br />

the baby during pregnancy but before they have clinical seizures.<br />

In these babies, we’ve had the opportunity to study changes on<br />

EEG that occur before a clinical seizure occurs. We’ve recognised<br />

that there is a clear pattern of abnormality appearing on the<br />

EEG approximately two months before the onset of clinical<br />

seizures. This gives us an opportunity to treat these infants earlier<br />

than would otherwise have occurred, and we know that earlier<br />

treatment of some seizure types is better. In some infants we<br />

have found from looking at their EEGs prior to clinical seizures<br />

appearing, that they are actually having seizures on the EEG<br />

that are just incredibly difficult to recognise in a small baby as<br />

they don’t cause very obvious movement or behaviour change.<br />

Identifying this has been important so that these can be treated.<br />

In short, we’ve learnt that the EEG can be incredibly informative<br />

when it is done regularly from birth for babies with TSC, even<br />

though they have not yet been seen to have a clinical seizure. The<br />

hope is now that with obtaining this information on all babies<br />

with TSC from early life, that earlier treatment might improve the<br />

development of clinical seizures or epilepsy and that it might even<br />

improve development.<br />

What type of seizures do you normally see in babies<br />

with TSC? What treatment do you use for these<br />

seizures?<br />

The most common seizures in small babies with TSC that we now<br />

pick up with EEG testing are focal seizures, these are seizures that<br />

stay localized in one part of the brain, arising from a tuber. They<br />

can have little visible effect on babies. Sometimes there is just a<br />

minor cessation in feeding, or a brief quietening in behaviour.<br />

When these have been occurring for a period of time, the seizures<br />

develop the capacity to spread wider around the brain and a more<br />

widespread seizure then appears. This is typically a seizure type<br />

called an epileptic spasm. The best first treatment for any type<br />

of seizures in an infant with TSC is a medicine called vigabatrin<br />

(Sabril). If seizures cannot be controlled by this medicine then<br />

there are a few other medications that can be trialled but the best<br />

curative approach may be removing the tuber causing the seizures.<br />

This is called epilepsy surgery.<br />

Matilda, VIC<br />

What research has been published on this new<br />

approach to treating infants with tuberous sclerosis?<br />

The original research[1] came from TSC clinics in Europe. It<br />

was initially in a very small group of babies that were followed<br />

with EEG before onset of clinical seizures. This showed that<br />

there was a potentially important role for EEG monitoring<br />

and possibly a role for treating the EEG to improve seizure and<br />

developmental outcomes.<br />

After this, larger studies are rolling out and these are active at<br />

the moment. Some data from these studies have been presented<br />

at international conferences, both at TSC and general epilepsy<br />

meetings. Some data is being prepared for publications in academic<br />

journals.<br />

In addition, studies have already been published recently<br />

that demonstrate that EEG is a valuable predictive tool [2-4].<br />

They show that if you follow EEG changes in babies with TSC<br />

before the onset of clinical seizures and you don’t treat that<br />

EEG that there is a timeframe of about two months where the<br />

EEG becomes abnormal and these babies will develop clinical<br />

seizures. This provides us with extra confidence in making the<br />

decision to treat an abnormal EEG before the babies have had<br />

clinical seizures.<br />

What research is your team at Lady Cilento Children’s<br />

Hospital involved in?<br />

Our TSC Clinic is collaborating as an <strong>Australia</strong>n site in a<br />

multi-centre research project running across European Union<br />

countries. This work is looking at early predictors of epilepsy<br />

in infants with TSC and determining whether earlier treatment<br />

when there are purely EEG abnormalities, but before clinical<br />

seizures appear, may improve outcomes. We are looking at both<br />

epilepsy outcomes as well as outcomes related to development<br />

and cognition.<br />

What else do we know about this new approach?<br />

As various clinicians become familiar with doing EEGs as a<br />

regular monitoring activity in small babies with TSC who have<br />

not yet had clinical seizures, there has been greater opportunity to<br />

see how EEG changes correlate with how the baby is progressing<br />

in their level of interaction and development. Through this time,<br />

clinical knowledge is being acquired about the baby and their EEG<br />

patterns. This allows clinicians to have the capacity to predict what<br />

will happen next and to have plans considered for treatment and<br />

intervention that can then be implemented more rapidly than if<br />

this knowledge was not already there.<br />

The EEG still gives you additional<br />

information over what families, parents<br />

or even doctors looking at the child can<br />

actually tell.<br />

It’s often a cause of worry and anxiety for parents and<br />

carers that they are not recognising subtle seizures<br />

in their babies. This worry can continue even after<br />

medication is started. What role does regular EEGs<br />

have for babies who have not had TSC diagnosed<br />

before they present with clinical seizures?<br />

I also see babies presenting for the first time with the onset of<br />

clinical seizures and TSC diagnosis at that time. I think the<br />

same principles still apply. The EEG still gives you additional<br />

information over what families, parents or even doctors looking<br />

at the child can actually tell. For this reason, I generally apply the<br />

same monitoring to any infant after the onset of clinical seizures<br />

as I would to the infant who is on the preventive surveillance<br />

EEG regime. I do think this helps to make sure that you’ve better<br />

control of the seizures over what is guessed clinically. And regular<br />

EEGs even after onset of a clinical seizure can still predict seizures<br />

breaking through later. I think the EEG surveillance, even in<br />

these infants, offers us the maximum information about the early<br />

developing brain to allow us to make the best decisions to improve<br />

the potential outcome.<br />

How frequent are these EEGs?<br />

This can vary from team to team. We follow the protocol that<br />

other researchers in Europe are following. For me, this is our<br />

minimum frequency:<br />

• For babies up to 6 months of age, once every four weeks;<br />

• For babies between 6 and 12 months of age, once every<br />

six weeks;<br />

• For babies between 12 and 24 months, once every<br />

eight weeks.<br />

In practice, if there is an abnormal pattern on EEG or a very active<br />

EEG, I might do EEGs every two weeks as I change medications to<br />

try to get better control.<br />

We’ve discovered there are some specific windows of time in<br />

the life of a TSC baby when they are more susceptible to having<br />

seizures. These are the times in which we tend to see more abnormal<br />

EEGs, so we’re often doing more EEGs in those time windows.<br />

For some babies, they are born with lots of sub-clinical seizures on<br />

their very early EEGs just after birth. We then have a group of babies<br />

that will develop EEG patterns that suggest a risk of developing<br />

epileptic spasms at around 6 months of age. And then there seems<br />

to be another risky period at about 18-20 months of age when some<br />

breakthrough seizures can occur, often with viral illnesses, but<br />

after that last risk period, things tend to be more smooth sailing.<br />

14<br />

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OCTOBER <strong>2016</strong> ISSUE 104<br />

15


Information<br />

Information<br />

Lachlan, QLD<br />

Oliver, NSW<br />

Hamish<br />

Matilda, VIC<br />

How does knowing about these higher risk periods of<br />

time help parents and carers?<br />

For all the parents of small babies with TSC, I explain what a<br />

subtle seizure or epileptic spasm looks like. Around those periods<br />

of higher risk for the baby (see above) we go back through that<br />

information, particularly if the EEG is starting to show some signs<br />

of being abnormal. Parents capturing video of events of concern<br />

is the most important thing at that time. Videos can be sent to<br />

neurologists who can review them rapidly and provide reassurance<br />

or arrange rapid assessment if the events are confirmed to be a<br />

seizure. Obtaining this rapid support for events of concern is one<br />

of the most important things for infants with TSC in these risky<br />

time windows. While I understand the urge to put TSC in the<br />

background and get on with life, I think that being over-anxious is<br />

probably better than being under-anxious when it comes to these<br />

early seizures in the life of an infant with TSC as early action is<br />

important for the best outcome.<br />

What are the challenges in rolling out this new<br />

approach to all infants with TSC?<br />

High frequency EEGs in early life for infants with TSC who have<br />

not yet had clinical seizures is a very resource intensive process.<br />

I can be seeing some babies every week or fortnight for an EEG.<br />

A lot of centres would not have the ability to provide that service<br />

given funding for EEG services. However a long term view of this<br />

resourcing is important, as if we provide this resource intense<br />

service early, and see these babies early on frequently, we can<br />

potentially make an important difference to the frequency of long<br />

term seizures and to their developmental outcome and this means<br />

that once the infant is 3 years of age and older, that child will not<br />

be a frequent attender in complex epilepsy clinics and requiring<br />

heavy lifelong support from hospital and health and care services.<br />

The trend that is emerging at our centre is that I am seeing these<br />

babies very intensively up until the age of 2 to 3 years of age and<br />

then only seeing them yearly after that. We’ve only been doing this<br />

new approach of EEG surveillance since 2011 so we still have more<br />

to learn about the approach on whether there is a long term benefit<br />

and how great this is.<br />

General principles from other<br />

epilepsies are...relevant to understanding<br />

why early treatment of an active tuber,<br />

identified on EEG is important.<br />

What are the implications of this approach for general<br />

epilepsy, outside of TSC?<br />

That’s a good question. This idea of controlling the EEG is new to<br />

epilepsy in general. We’ve always focused on the clinical seizures.<br />

We increasingly realise that clinical seizures are just the worst<br />

manifestation of abnormal biology in the brain and it is this<br />

abnormal biology that has enormous impact on quality of life,<br />

development, behaviour and sleep. So this principle of ‘clinical<br />

seizures are not everything’ is very important for other epilepsies.<br />

TSC has some characteristics that are unique from other causes<br />

of epilepsy that make this approach particularly suitable. We<br />

know that the majority of babies with TSC will have epilepsy; we<br />

know that the EEG will, fairly reliably, predict the onset of clinical<br />

seizures; and we have the potential to prevent the brain developing<br />

very complex and difficult to control epilepsy. This is in contrast<br />

to other groups at risk of seizures, such as babies that have had a<br />

stroke. For this group there is a smaller percentage of babies that<br />

will go on to develop seizures, and these seizures are much more<br />

likely to be controlled with a single medication.<br />

General principles from other epilepsies are, however, relevant<br />

to understanding why early treatment of an active tuber, identified<br />

on EEG is important. There is a concept that is known from<br />

general epilepsy, that ‘seizures beget seizures’. We’ve known for<br />

some time that if you’ve got ongoing abnormal electricity in part of<br />

the brain that this recruits wider and wider areas and seizures then<br />

come from the whole brain or other areas of the brain. Once this<br />

whole brain recruitment has occurred, it is harder to wind seizures<br />

down again with anti-convulsant medications. The new approach<br />

of EEG surveillance for infants with TSC is a very clear model of<br />

managing this: essentially we catch seizure-generating tubers on<br />

an EEG very early and treating before they start recruiting other<br />

areas of the brain so that there is better overall epilepsy control or<br />

remission of seizures.<br />

What advice would you give to parents of a new baby<br />

with TSC?<br />

From a medical perspective, I encourage people to ensure they<br />

have access to a paediatric neurologist with an interest in TSC.<br />

This could be their doctor, or someone their doctor can link in<br />

with when needed for support and advice.<br />

There has been incredible progress in TSC in the last 20 years.<br />

We only discovered the genetic changes that cause TSC in the 1990s<br />

and the pathways that these influence not long after that. Our<br />

knowledge of ways that we can positively influence the condition is<br />

increasing rapidly. I usually highlight that most of the information<br />

on the internet is out of date and that this can be unnecessarily<br />

alarming. I always emphasise that TSC is a highly individual<br />

condition and that every individual with TSC is an individual.<br />

I try to tell my new families balanced information about<br />

current data from our clinic, which reflects some of the newer<br />

treatments, early access to EEG surveillance (from 2011),<br />

early access to curative epilepsy surgery and access to mTOR<br />

inhibitors. I give information that is balanced about current<br />

rates of epilepsy and intellectual disability in our modern TSC<br />

cohort. I have teenagers in our clinic who are school captains<br />

and some have high IQs, and will transition to university. It has<br />

a very diverse impact but in our clinic at this time, the rate of<br />

intractable epilepsy is low (14% of our cohort currently) and<br />

this likely reflects better and more intense therapy in early life.<br />

The best information is therefore obtained from people who are<br />

familiar with TSC and this often helps allay anxiety that can<br />

escalate when the internet is accessed.<br />

Editor’s note - This approach to treating epilepsy in TSC is available<br />

at many centres around <strong>Australia</strong>. The availability of EEG testing,<br />

particularly in regional areas, is one barrier to more widespread use of<br />

this intensive monitoring protocol. For help finding a neurologist with<br />

experience treating TSC you can contact the TSC Information Service<br />

by emailing info@tsa.org.au or calling 1300 733 435.<br />

1. Jozwiak, S., et al., Antiepileptic treatment before the onset of<br />

seizures reduces epilepsy severity and risk of mental retardation<br />

in infants with tuberous sclerosis complex. Eur J Paediatr Neurol,<br />

2011. 15(5): p. 424-31.<br />

2. Wu, J.Y., et al., Clinical Electroencephalographic Biomarker for<br />

Impending Epilepsy in Asymptomatic <strong>Tuberous</strong> <strong>Sclerosis</strong> Complex<br />

Infants. Pediatr Neurol, <strong>2016</strong>. 54: p. 29-34.<br />

3. Muzykewicz, D.A., et al., Infantile spasms in tuberous sclerosis<br />

complex: prognostic utility of EEG. Epilepsia, 2009. 50(2):<br />

p. 290-6.<br />

4. Domanska-Pakiela, D., et al., EEG abnormalities preceding the<br />

epilepsy onset in tuberous sclerosis complex patients - a prospective<br />

study of 5 patients. Eur J Paediatr Neurol, 2014. 18(4): p. 458-68.<br />

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Information<br />

Information<br />

Advances in Epilepsy<br />

Surgery in TSC<br />

An interview with Dr Simon Harvey, paediatric neurologist and director of the Children’s Epilepsy Program<br />

at Royal Children’s Hospital, Melbourne.<br />

What is epilepsy surgery and what role does it play in<br />

the treatment of epilepsy for a person with tuberous<br />

sclerosis (TSC)?<br />

Epilepsy surgery is treating a person with uncontrolled, drug<br />

resistant seizures that have a focal basis by removing the source of<br />

the seizures. The source is typically a lesion (such as a tumour or<br />

malformation) that we can see on an MRI. Commonly surgery is<br />

done in someone who is having focal seizures, but it is also possible<br />

for a person having generalised seizures where we know there is a<br />

focal basis for the generalised seizures.<br />

People with TSC have multiple cortical tubers in their brain.<br />

We know that it is the tubers that sit on the outside of the brain, in<br />

the cerebral cortex, that give rise to seizures, not the other brain<br />

abnormalities seen in TSC (such as nodules, SEGAs or white matter<br />

changes). Because there are multiple tubers, and potentially<br />

multiple sources for seizures, epilepsy surgery can be more complex<br />

in a person with TSC.<br />

What types of seizures can be treated with epilepsy<br />

surgery? Is it only focal seizures?<br />

In people with TSC, all seizures have a focal basis, even spasms or a<br />

tonic seizure that may not look focal on an EEG.<br />

We know that abnormal networks form in the brain. These<br />

abnormal networks induce multi-focal generalised epileptic patterns<br />

and setup and sustain these types of seizures. This can all be<br />

due to a single abnormal area – in the case of TSC this could all be<br />

due to one tuber.<br />

It is rare that we can show for a child having spasms that there<br />

is a single part of the brain that is the focus for a seizure, from<br />

which the seizure then becomes generalised. Rather, what we think<br />

is happening, is that the rest of the normal brain is reacting in an<br />

abnormal way to a focal seizure process, giving rise to the seemingly<br />

generalised seizures. We find that after we remove the focus<br />

that the spasms and the tonic seizures continue for a while and<br />

then they start to calm down.<br />

This sounds like a different way of thinking about<br />

seizures than we’ve had previously. Many people with<br />

TSC have been told that they had multiple foci for<br />

their seizures so surgery was not an option.<br />

The mistake that some neurologists make is that they see all these<br />

epileptic discharges on EEG coming from all these different locations<br />

in the brain and presume that all the tubers are giving rise to<br />

the seizures and discharges, and therefore nothing can be done. Alternatively,<br />

they see tonic seizures or spasms with no clues to focality<br />

on EEG and similarly believe nothing can be done. Our approach is<br />

that you don’t have to prove that the seizures are starting in one area<br />

and spreading to become spasms, because that’s not the case.<br />

Understanding seizure types<br />

Most seizures fall into three groups, focal, generalised<br />

and unknown.<br />

• Focal seizures: Focal seizures are often very subtle<br />

or unusual, and may go unnoticed or be confused<br />

with other events. They occur in one small area<br />

of the brain and can sometimes spread to other<br />

regions.<br />

• Generalised seizures: There are many kinds of<br />

generalised seizures. These occur when the seizure<br />

activity involves both hemispheres of the brain.<br />

As a result, consciousness is lost at the beginning<br />

of the seizure. Generalised seizures can also occur<br />

following focal seizures. When this happens, the<br />

electrical disturbance spreads from a localised<br />

area and evolves to become a bilateral convulsive<br />

seizure. Tonic clonic seizures are one type of<br />

generalised seizure, named after the key features<br />

- body stiffening (tonic) and jerking of the muscles<br />

(clonic).<br />

For more detailed information on seizure types, see<br />

www.tsa.org.au/epilepsy<br />

So how do you identify the part of the brain that is<br />

responsible for seizures? What tools do you use to<br />

figure out that puzzle?<br />

Doing epilepsy surgery in TSC is one of the most challenging<br />

areas in epilepsy surgery and this is because of the challenges of<br />

localisation: working out what part of the brain is giving rise to the<br />

seizures. There can be lots of tubers, the EEG can show generalised<br />

seizures and it’s hard!<br />

There are some very invasive tests we can do, such as two stage<br />

surgery with intracranial EEG monitoring. This involves opening<br />

up the brain and putting electrodes over tubers and other regions,<br />

sometimes on both sides of the brain. We then record seizures.<br />

That is something we used to do a lot, and many TSC families in<br />

<strong>Australia</strong> will have gone through this at our centre. It is still common<br />

in some centres overseas. We don’t do this as much now as<br />

we’ve learnt a lot from the TSC children we did this monitoring on<br />

and now don’t think that it is necessary in the majority of children.<br />

There’s a form of positron emission tomography (PET) scan<br />

being used in one centre overseas. This uses an agent called AMT<br />

that lights up tubers that are giving rise to the seizures. That centre<br />

uses this test in combination with the intracranial EEG. This<br />

type of PET scan is not really available outside of that centre.<br />

We used to do single-photon emission computed tomography<br />

(SPECT) scans. However these often gave us misleading information<br />

as it would light up lots of areas in the brain where the seizure<br />

had spread to, and not the onset region. We no longer use SPECT<br />

scans for children with TSC<br />

What we often do is go back to basic principles. For example,<br />

on the MRI scan there are tubers that look different to the<br />

others. They might be bigger, more calcified and have a different<br />

appearance to other tubers. This includes having a bullseye, or an<br />

abnormal centre to them. We often see several tubers looking like<br />

that, but that narrows it down a little bit. We do look at the EEG<br />

recordings but this is problematic, because seizures propagate, or<br />

spread from one tuber to other parts of the brain. In fact we think<br />

that even when you first see changes in the child and on the scalp<br />

EEG this is well after the seizure has started. What we hope is<br />

that the seizure spreads locally. Sometimes the very earliest EEGs<br />

or even videos of the very first seizures the child had can provide<br />

useful information.<br />

It sounds a lot like your full title should be ‘forensic<br />

epileptologists’. I picture you sorting through all these<br />

different clues.<br />

It is like that! It is building a case for a tuber or group of tubers<br />

being the source of seizures, based on different tests and pieces of<br />

information and using this to come up with a plan for surgery.<br />

Can you tell me about the research your team has<br />

been doing in this area and how it has changed the<br />

way you approach epilepsy surgery for your TSC<br />

patients?<br />

We’ve had two publications in this area. Both go against the grain<br />

of what others are doing around the world. Other centres will<br />

put electrodes in the brain and interpret the epileptiform activity<br />

recorded as meaning seizures are coming from all these different<br />

parts of the brain. They will then take out these parts of the brain,<br />

including tubers and in some cases normal brain. I think this is<br />

crazy because kids with TSC need all their normal brain. There<br />

are some children with TSC with large numbers of tubers and the<br />

last thing I want to do is take out bits of normal brain.<br />

Our first paper showed that seizures come from tubers, not<br />

from normal parts of the brain[1]. Abnormalities on EEG that<br />

we record in the normal parts of the brain are either the seizure<br />

spreading or the normal brain reacting to the seizures coming<br />

from the tubers.<br />

The second paper builds on the first. When we put electrodes<br />

deep into the tubers, not only did we show that seizures start in<br />

tubers, but we showed that it is actually just the centre of the tuber<br />

that is giving rise to the seizure[2].<br />

So we have shown firstly that only some tubers are epileptogenic<br />

(responsible for starting seizures) and secondly only the centre<br />

of the tuber seems to be epileptogenic. And the centre of the<br />

tuber is where we see this bullseye appearance on the MRI scan.<br />

And that’s matching what you’ve seen in your practice<br />

of noticing that bullseye feature on the MRI scans.<br />

Yes. What it looks similar to is focal cortical dysplasia that we see<br />

in some people with focal epilepsy that don’t have TSC. When<br />

we look at those lesions under the microscope we can see a lot of<br />

similarities between dysplasias and tubers. We are also starting to<br />

understand that these are similar at a genetic level and that some<br />

dysplasias are also due to abnormalities in the mTOR pathway.<br />

So what we think is that perhaps in TSC we have these small focal<br />

cortical dysplasias sitting in the middle of these much more<br />

noticeable tubers.<br />

What this has allowed us to do is just to remove the centre of<br />

the tuber and not the whole tuber. This reduces the risks that our<br />

surgery will have negative impacts on the other parts of the brain.<br />

It’s almost like leaving this donut shape behind and this acts as<br />

a buffer for the rest of the brain. We’ve done this in a very small<br />

number of children but we will start to do this more.<br />

Simon and colleagues at 2015 <strong>Australia</strong>n TSC Conference<br />

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Information<br />

Information<br />

Given your focus on only removing the tuber itself, or<br />

even only removing the centre of the tuber, do you see<br />

lower rates of negative impacts of surgery compared<br />

to other centres doing this type of surgery on TSC<br />

patients?<br />

We don’t have deficits, I can’t think of any of our TSC kids<br />

where we’ve had complications like that from epilepsy surgeries.<br />

What we are trying to do in TSC is stop seizures, or at least the<br />

worst types of seizures and try to stop them early to achieve<br />

developmental gains.<br />

Another thing we have observed is the children we’re seeing<br />

now who have been “pre-treated” early with vigabatrin are much<br />

better developmentally. We think this is because we’ve stopped<br />

them from developing spasms. They still tend to develop focal<br />

seizures, but they are much easier to localise and treat surgically,<br />

as they have spread less within the brain.<br />

So the rest of the brain is a bit more resistant to<br />

joining in the seizures when they start?<br />

Exactly. They don’t get these multi-focal and generalised<br />

seizures and abnormal EEG patterns. So we’re just treating their<br />

focal seizures and preserving their normal development. The<br />

early diagnosis and monitoring is just so important. Any child<br />

diagnosed with TSC prenatally or neonatally has to be seeing a<br />

neurologist who is going to actively manage this. I am not waiting<br />

for clinical trial results to come out; this is obvious to me and<br />

should be discussed with parents.<br />

What we are trying to do in TSC is<br />

stop seizures, or at least the worst types<br />

of seizures and try to stop them early to<br />

achieve developmental gains..<br />

These are impressive accomplishments. What is<br />

coming next?<br />

We have a grant application with the National Health and Medical<br />

Research Council (NHMRC) to extend on this work. We will look<br />

more closely at both the structure and the genetics of this tissue<br />

from the centre of the tuber.<br />

We’ll also try to publish our small series of children in<br />

whom we have only taken out the centre of the tubers. We’re also<br />

contributing to book chapters and trying to spread the word about<br />

what we’ve discovered.<br />

Oliver, NSW<br />

We do need to publish our results of surgery in TSC and<br />

report longer term outcomes. We want to show the results of our<br />

approach ie. just doing tuberectomies (not taking out normal<br />

brain tissue), operating multiple times when we find there are<br />

multiple foci, and not doing two stage surgeries.<br />

One of the challenges we have is whether mTOR inhibitor<br />

medicines might be distracting. I think there is a role for these<br />

medicines after we have fixed up the infant’s seizures with<br />

vigabatrin and surgery. mTOR inhibitors may control some of the<br />

mild seizures, and help with cognition and other aspects of TSC.<br />

I don’t think mTOR inhibitors are the panacea for these earlylife<br />

seizures, such as spasms, that affect development adversely. I<br />

think what we are learning is that it’s a combination of vigabatrin,<br />

steroids and surgery that are needed in infancy to maximise<br />

seizure control and developmental potential.<br />

I’d like to bring us back to the people that are going<br />

through this difficult process of considering epilepsy<br />

surgery. Given your experience with working with<br />

these families and making difficult decisions about<br />

epilepsy treatment options, what advice would you<br />

give them?<br />

What I normally do is emphasise the effects of seizures and<br />

EEG abnormalities on the developing brain. This is based on<br />

the links between seizures and what we see on the EEG with the<br />

development of autism and learning difficulties. I go through the<br />

process involved with the actual surgery, which understandably<br />

Hamish<br />

can be a little bit horrifying. We try to reassure parents of children<br />

with TSC that epilepsy surgery is something we do frequently,<br />

once or twice a week, every week, and that we’ve operated on more<br />

than 60 children with TSC. Surgery in our hands is very safe,<br />

because we do a lot. I know that for any family going through this<br />

for the first time it is a scary process but a lot of them say later it<br />

wasn’t as bad as they imagined it would be.<br />

The real big thing I get families prepared for is<br />

disappointment. They’re always worried about the risks of the<br />

surgery. What I am worried about is that the child is still going<br />

to be having the same seizures after the surgery or develop new<br />

seizures. However, families are often knocking down the doors<br />

when new seizures start, wanting their child to have surgery again.<br />

I think that’s because they’ve been through it once, seen that it<br />

wasn’t that bad, and seen the benefits in their child’s development.<br />

You’ve talked about surgery in babies and younger<br />

children. What options are there for an older child or<br />

even an adult with uncontrolled epilepsy?<br />

They should get advice from a centre that does epilepsy surgery.<br />

This centre should have contacts with a paediatric centre which<br />

does TSC epilepsy surgery. The worry in adults is that seizures<br />

have been going on for so long and these abnormal epileptic<br />

networks have been “cemented”. So even if we take out the tuber<br />

that was the original cause of the seizures, the seizures may<br />

continue. I think there may be some cases where we could make<br />

an adult seizure free, but the chances of this would be lower.<br />

Dr Harvey’s TSC epilepsy surgery research has been<br />

supported by:<br />

• Brimbank ToRCH, an auxiliary of the Royal Children’s<br />

Hospital Foundation:<br />

• The Romios’ Family in honour of Kristian Romios:<br />

• The many families who have entrusted their children to the<br />

surgical team.<br />

Editor’s note - Surgical treatment of epilepsy in TSC is available at<br />

many centres around <strong>Australia</strong>. Each team will take a somewhat<br />

different approach based on both scientific knowledge and their own<br />

Matilda, VIC<br />

experiences. Some of what is discussed in this article is experimental<br />

and not widely acknowledged in the global medical community.<br />

Further research will help to understand long term effectiveness of<br />

these new approaches. For help finding a neurologist with experience<br />

in treating TSC you can contact the TSC Information Service by<br />

emailing info@tsa.org.au or calling 1300 733 435.<br />

References<br />

1. Mohamed, A.R., et al., Intrinsic epileptogenicity of cortical tubers<br />

revealed by intracranial EEG monitoring. Neurology, 2012.<br />

79(23): p. 2249-57.<br />

2. Kannan, L., et al., Centre of epileptogenic tubers generate and<br />

propagate seizures in tuberous sclerosis. Brain, <strong>2016</strong>.<br />

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Information<br />

Information<br />

Emerging treatments for<br />

epilepsy in people with TSC<br />

Research News<br />

A selection of recently published articles with a focus on high impact and <strong>Australia</strong>n TSC research.<br />

Summaries written by Kate Fessey and Clare Stuart.<br />

Clare Stuart, general manager TSA<br />

There are two other areas of research that have the potential<br />

to deliver new treatment options for people with epilepsy<br />

caused by tuberous sclerosis: mTOR inhibitor medicine and<br />

medicinal cannabis. Both of these are in clinical trial stage and<br />

are not approved treatments in <strong>Australia</strong>. This article reviews<br />

what we know about these treatments and does not replace<br />

advice from your own medical professional. Like all information<br />

TSA publishes, please consult your neurologist before taking any<br />

action based on the information in this article.<br />

mTOR inhibitor medicines<br />

The term mTOR inhibitor refers to a group of medicines. The generic<br />

(official) names for the two main medicines are Sirolimus<br />

and Everolimus. In <strong>Australia</strong>, Everolimus is marketed under the<br />

brand name Afinitor.<br />

In an individual with TSC, their cells are unable to produce<br />

either the protein called TSC1 or the protein called TSC2. mTOR<br />

inhibitor medicines seem to do a similar job in the body as the<br />

TSC1 and TSC2 proteins, controlling how many cells grow and<br />

how large they grow. Scientists think this is the reason the medicines<br />

are effective in reducing the size of the tumours in some<br />

people with TSC.<br />

The clinical trials investigating mTOR inhibitor use for<br />

SEGAs (EXIST-1) and kidney AMLs (EXIST-2) found some evidence<br />

of improvements in epilepsy in patients taking an mTOR<br />

inhibitor. This led to the design of a clinical trial (EXIST-3) of<br />

Everolimus to treat epilepsy in people with TSC. The results of<br />

this study were published in September <strong>2016</strong>. For a summary of<br />

this publication, see page 23.<br />

The results of this study may be used by the medicine manufacturer<br />

to seek an approval from the therapeutic goods administration<br />

(TGA) for this medicine to be used as a treatment for<br />

epilepsy in TSC. Future research may be needed to understand<br />

which patients benefit most from this medicine.<br />

Medicinal Cannabis<br />

Treatment of diseases with cannabis is a complex issue. Factors<br />

contributing to this complexity include:<br />

• legal issues surrounding the use of cannabis as an illicit drug;<br />

• misinformation in the media, often reporting on anecdotes;<br />

• the plethora of different products that might be derived from<br />

the group of plants referred to as cannabis;<br />

• the hypothesis that benefits of cannabis may be linked to<br />

multiple chemicals working together, rather than a single<br />

chemical that can be isolated in a medicine.<br />

Like any new medicine, research is required to understand<br />

whether this product is effective, to determine the optimal dose<br />

that balances maximising medicinal effect while minimising<br />

side effects and ensuring safe and understanding interactions<br />

with other treatments. This research will build on the experiential<br />

knowledge gained by use of cannabis for various illnesses<br />

throughout human history.<br />

In tuberous sclerosis, cannabis derived medicines are being<br />

researched to treat epilepsy. The next stage of the TSC research is<br />

an international clinical trial that will have several sites in <strong>Australia</strong>.<br />

In addition, there are several projects around <strong>Australia</strong><br />

investigating the use of cannabis products to treat epilepsy. All<br />

of these studies are focusing on people for whom existing treatments<br />

have failed to control their seizures.<br />

If you think that one of these clinical trials, or any type<br />

of medicinal cannabis treatment, may be an option for you or<br />

someone in your family you should speak with your neurologist.<br />

This is particularly important in a complex condition like TSC<br />

and to monitor possible interactions with other medications.<br />

Elizabeth Thiele, neurologist and TSC Clinic director from<br />

Boston, USA, spoke about this area of research at the 2015 <strong>Australia</strong>n<br />

TSC Conference. This video, which includes a summary<br />

of the research already completed in the USA into the use of cannabis<br />

medicines for people with TSC, is available to view online.<br />

She concluded her conference session with this summary:<br />

“This is not a silver bullet for epilepsy in TSC. It is not the<br />

silver bullet for epilepsy in anything. But I think it is a very safe<br />

and well tolerated medication and I know it can be helpful for<br />

some people.”<br />

Epilepsy Action <strong>Australia</strong> provides information on medicinal<br />

use of cannabis to families throughout <strong>Australia</strong>. To<br />

subscribe to their regular emails on this topic, go to www.<br />

surveymonkey.com/r/FF6Q7TX<br />

The online version of this article will contain links to other<br />

relevant articles and videos. Go to www.tsa.org.au/cbd for more<br />

information.<br />

The TSC Information Service is available to help answer<br />

your questions about any emerging treatment options for any aspect<br />

of TSC. You can email info@tsa.org.au or call 1300 733 435.<br />

Long-Term Use of Everolimus in Patients with TSC<br />

New evidence supporting the efficacy and safety of Everolimus<br />

(an mTOR inhibitor medicine) as a treatment for TSC associated<br />

SEGA has been published from the long-term EXIST-1 Study.<br />

This has added to the evidence for the effectiveness of long-term<br />

Everolimus use and the benefits of using Everolimus compared<br />

with placebo to treat growing SEGAs.<br />

Why are we concerned about SEGA?<br />

SEGA are a type of benign tumour, meaning they are not cancerous<br />

(do not spread to other parts of the body). However, they can<br />

be a cause of harm and death in TSC patients. As they grow, they<br />

can block the flow of fluid in the brain.<br />

Findings of the study<br />

The trial has shown Everolimus can be an effective treatment<br />

option for symptomatic, growing SEGAs. Whilst some patients<br />

might not initially respond to Everolimus, a response might be<br />

achieved with continued exposure, as demonstrated in the trial<br />

with the number of patients who had a reduction in SEGA volume<br />

over time.<br />

This study has confirmed that Everolimus can be a safe and<br />

effective long-term therapeutic option for patients with TSCassociated<br />

SEGA, and it has also shown that Everolimus may<br />

also reduce the risk for clinical complications of SEGA, such as<br />

hydrocephalus.<br />

Limitations of the study<br />

More testing is required to assess the long-term implications of<br />

Everolimus treatment and to fully assess the effects in the wider<br />

manifestations that have been associated. Further research is also<br />

required to guarantee there are no long-term effects of mTOR<br />

inhibitors on growth and sexual maturation. But existing clinical<br />

data does not indicate that these areas are impacted by long term<br />

use of Everolimus, showing no association with growth disturbances<br />

and no impact on sexual maturation.<br />

Any adverse effects that did appear were generally quite minor<br />

like ulcers and usually occurred in the first year of treatment.<br />

These were managed by dose adjustment or interruption. No new<br />

safety concerns were raised through this longer term analysis and<br />

all safety results obtained during this long-term study remained<br />

consistent with those previously reported in TSC-associated clinical<br />

settings with Everolimus.<br />

Source: Franz, D.N., et al., Long-Term Use of Everolimus in Patients<br />

with <strong>Tuberous</strong> <strong>Sclerosis</strong> Complex: Final Results from the EXIST-1<br />

Study. PLoS One, <strong>2016</strong>. 11(6): p. e0158476.<br />

<strong>Tuberous</strong> <strong>Sclerosis</strong> Complex Associated with Vascular<br />

Anomalies or Overgrowth<br />

<strong>Australia</strong>n TSC researchers have co-authored a study regarding<br />

the associations between TSC and vascular anomalies or overgrowth,<br />

motivated by a significant underreporting in this area.<br />

Findings of the study<br />

The study has shown that vascular anomalies and asymmetric<br />

growth may be more frequent in people with TSC than previously<br />

appreciated. Five cases are reported in this paper across three<br />

centres in <strong>Australia</strong>, Canada and USA.<br />

It is conceivable that the same mTor pathway dysregulation<br />

that stimulates tumor formation in TSC could also be driving<br />

vascular anomalies and limb overgrowth. The coexistence of these<br />

conditions in several cases has provided an opportunity to assess<br />

the response to inhibition of mTOR and thus provided further<br />

evidence that the mTOR pathway is significant in some cases of<br />

overgrowth and vascular anomalies.<br />

The results of the study highlight the potential for the use of<br />

mTOR inhibition in these cases. In the study, six patients with<br />

complicated vascular anomalies that had been unmanageable by<br />

other measures were successfully treated using sirolimus.<br />

Source: Jenkins, D., et al., <strong>Tuberous</strong> <strong>Sclerosis</strong> Complex Associated<br />

with Vascular Anomalies or Overgrowth. Pediatr Dermatol, <strong>2016</strong>.<br />

33(5): p. 536-42.<br />

Adjunctive everolimus therapy for treatment-resistant<br />

focal-onset seizures associated with tuberous sclerosis<br />

(EXIST-3): a phase 3, randomised, double-blind,<br />

placebo-controlled study<br />

Results of long-term follow up as a part of the EXIST-1 Study have<br />

been published. This study compared using Everolimus, an mTOR<br />

inhibitor medicine,with placebo to treat growing SEGAs in people<br />

with TSC. SEGA are a type of tumour that can block the flow of<br />

fluid in the brain.<br />

Findings of the study<br />

The trial has shown Everolimus can be an effective treatment<br />

option for symptomatic, growing SEGAs and may reduce the<br />

risk for clinical complications of SEGA, such as hydrocephalus..<br />

Whilst some patients might not initially respond to Everolimus, a<br />

response might be achieved with continued exposure.<br />

Limitations of the study<br />

More testing is required to assess the long-term implications of<br />

Everolimus treatment and to fully assess the effects in the wider<br />

manifestations that have been associated. Further research is also<br />

required to guarantee there are no long-term effects of mTOR<br />

inhibitors on growth and sexual maturation. But existing clinical<br />

data does not indicate that these areas are impacted by long term<br />

use of Everolimus, showing no association with growth disturbances<br />

and no impact on sexual maturation.<br />

The adverse effects that did appear were generally minor like<br />

ulcers and usually occurred in the first year of treatment. These<br />

were managed by dose adjustment or interruption. No new safety<br />

concerns were raised through this longer term analysis and all<br />

safety results obtained during this long-term study remained consistent<br />

with those previously reported in TSC-associated clinical<br />

settings with Everolimus.<br />

Source: French, J.A., et al., Adjunctive everolimus therapy for treatment-resistant<br />

focal-onset seizures associated with tuberous sclerosis<br />

(EXIST-3): a phase 3, randomised, double-blind, placebo-controlled<br />

study. Lancet, <strong>2016</strong>.<br />

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Information<br />

Fundraising<br />

Brainwave, supporting<br />

children with tuberous<br />

sclerosis complex<br />

Within a few hours of coming into the world Hamish Green<br />

was rushed to ICU, he was suffering violent seizures and<br />

something was not right. Hamish’s mother, Kate Green and<br />

her partner Solomon then waited the agonising 48 hours for a<br />

diagnosis and after intense neurological surgery on the infant<br />

a diagnosis was received, their beautiful new born son Hamish<br />

had tuberous sclerosis.<br />

Initially the diagnosis was isolating for Kate and her family<br />

as they learnt about and worked through the challenges that<br />

come with TSC and a special needs child. Over time Kate<br />

joined a number of support groups that helped her connect<br />

with other parents in carer roles and it was through these<br />

networks that the family were first introduced to Brainwave.<br />

Brainwave is a Melbourne based charity providing<br />

financial, emotional and social support to families who are<br />

caring for children with neurological conditions such as<br />

tuberous sclerosis, brain tumours, acquired brain injuries,<br />

stroke, childhood MS, cerebral palsy, epilepsy, muscular dystrophy<br />

and more.<br />

Brainwave currently provides more than 800 families across<br />

Victoria and New South Wales with practical help to improve<br />

their quality of life. This includes funding for those struggling<br />

to afford necessities – common when one parent<br />

stops working to care for a sick or injured child – such as<br />

rehabilitation and mobility equipment (eg wheel chairs,<br />

home modifications), ongoing therapy (such as speech<br />

therapy, hydrotherapy), and under special circumstances,<br />

household finances (from rent payments to<br />

utility bills).<br />

With a focus on the whole family, not just the sick<br />

or injured child, Brainwave offers practical support to<br />

help families get children out of hospital and back home as<br />

smoothly as possible, funds essentials not funded by others,<br />

and provides ongoing help to families whose lives have been<br />

turned upside down.<br />

Recently, this focus has further evolved with the development<br />

of the Bear Essentials Pack, a care pack distributed in both<br />

the Royal Children’s Hospital and Monash Children’s Hospital<br />

to families who find themselves in the neurological ward for an<br />

extended period of time without the basic essentials. The bear<br />

essentials pack includes toiletries, vouchers and activity books for<br />

the children. Each pack also contains a teddy bear, created as a<br />

legacy to Luke Ryan, one of Brainwave’s members who was sadly<br />

lost in 2013.<br />

Brainwave also hosts regular, free camps and events for<br />

families, siblings and sick kids to break the cycle of isolation many<br />

families experience and provide some much needed fun and stress<br />

relief, as well as a network of families who understand their challenges<br />

in a supportive and non-judgemental environment.<br />

Hamish,<br />

now eleven<br />

years old has attended<br />

a number<br />

of Brainwave’s<br />

Christmas parties,<br />

hosted every year at<br />

the iconic Luna Park in<br />

St Kilda, as well as a couple<br />

of the Kids and Sibs days, an<br />

event created specifically to<br />

include the siblings of special needs children. General Manager<br />

of Brainwave, Caroline Scully explains, “for siblings life can be<br />

tough when their needs inevitably take a back seat and the Kids<br />

and Sibs events provide these siblings with an opportunity to not<br />

only bond with their brothers and sisters, but also access to other<br />

children who share similar experiences.”<br />

Brainwave is currently accepting applications from families<br />

in Victoria and New South Wales with children with neurological<br />

conditions such as tuberous sclerosis and are looking for financial,<br />

emotional or social support.<br />

For more information, to register your interest, or to find out<br />

more about Brainwave’s services: http://brainwave.org.au/<br />

Snapshot<br />

Our fundraisers around <strong>Australia</strong>. If you have a community event coming up<br />

and want to raise funds for TSA, please email chelli@tsa.org.au or call us on<br />

1300 733 435.<br />

SA – GP runs in Clare Valley Half Marathon,<br />

April <strong>2016</strong><br />

Dr Jessica Smith is a GP who provides medical care to people with<br />

an intellectual disability. Inspired by Tori, one of her patients with<br />

tuberous sclerosis, Jessica ran in the recent Clare<br />

Valley half marathon as a TSC<br />

Hero. Her campaign raised over<br />

$2,000 and much needed awareness<br />

of TSC in her local community<br />

through her medical centre and a<br />

radio segment.<br />

VIC – Logan’s High Tea,<br />

May <strong>2016</strong><br />

Jessica Nicholson held a high tea in Euroa,<br />

Victoria, in honour of her son Logan. Her<br />

local community came together and raised<br />

more than $600 for TSC research, bringing<br />

Jessica’s campaign to over $1400.<br />

Logan<br />

Dr Jessica Smith<br />

Jessica Nicholson<br />

Dr Jessica Smith<br />

Miranda's trivia night<br />

QLD – Miranda’s trivia night, June <strong>2016</strong><br />

Miranda, Tom and Kerri held a Brisbane trivia night, Saturday 4 th<br />

of June <strong>2016</strong> to raise awareness of TSC and also $7,981.50 for<br />

TSA. Miranda, who lives with TSC, wanted to do something to raise<br />

awareness and this was a great achievement.<br />

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Fundraising<br />

Fundraising<br />

Snapshot<br />

Thank You to Our Supporters<br />

WA – HBF Run for a Reason, May <strong>2016</strong><br />

great effort by Annabel, Sue, Laura and their team who<br />

A participated in this year’s<br />

HBF Run for a Reason in Perth<br />

28 May <strong>2016</strong>. As TSC Heroes<br />

they raised just over $1400 in<br />

honour of Annabel’s nephew Shay<br />

and Sue’s daughter Rebekah.<br />

NSW – Lizzies<br />

Lunch, June <strong>2016</strong><br />

The annual event Lizzie’s Lunch,<br />

in memory of Lizzie Pinkerton<br />

- who passed way from TSC<br />

complications in 2010 - was held<br />

this year at the 3 Weeds in Sydney<br />

on 26th of June. It sold out well in<br />

advance and a great afternoon was<br />

had by all. A big thank you to all<br />

the sponsors of the event, to Sue<br />

Pinkerton for organising it, and<br />

also Sally Nicholson and Elliot<br />

Cunnew for their heartfelt speech<br />

on their own TSC journey with<br />

their daughter Amelia. This lunch<br />

event raised $16,000 for TSA.<br />

Lizzie's Lunch<br />

Lizzie's Lunch<br />

HBF Fun Run<br />

Lizzie's Lunch<br />

Lizzie's Lunch<br />

HBF Fun Run<br />

Lizzie's Lunch<br />

Lizzie's Lunch<br />

TSC Champions who<br />

donate monthly<br />

Aunty Ivy’s Ironing & Laundry<br />

Service<br />

Peter Clisdell<br />

Sally Nicholson and Elliot Cunnew<br />

David and Hayley Hill<br />

Andrew Goldstiver<br />

Jennifer O’Donoghue<br />

Rob Pinkerton<br />

Anne Vella<br />

Steve Walker<br />

Belinda Allchin<br />

Macquarie group Foundation<br />

Gold Members<br />

Leisel Bell<br />

Kerry Bromhead<br />

Joyce Chow<br />

Gail Cummins<br />

Peter Hennings<br />

Kelven Hill<br />

Berice Hopwood<br />

Gwynnydd Jones<br />

Michael Jones<br />

Lisa Liebman<br />

Vanida Lim<br />

Adrienne Mateffy<br />

Lachlan McArthur<br />

Sally McKillop<br />

John McKillop<br />

Kevin Niklaus<br />

Patrick Norris<br />

Shirley Peipman<br />

Steve Penniment<br />

Georgina Schilg<br />

David and Marianne Somerville<br />

Andrea Stevenson<br />

Loren Wakeley<br />

Robyn Walker<br />

Catherine Wiles<br />

Sue Williamson<br />

Leisel Bell<br />

Debbie and Anthony Crosby<br />

Kay McMillan<br />

Julie Osborne<br />

Michelle Purkiss<br />

Silver Members<br />

T Curtis<br />

Lucy Di Falco<br />

James Lowe<br />

Frank Martin<br />

Alison McIvor<br />

Malcolm McLean<br />

David Meredith<br />

Joelle Neville<br />

Kay Woodcock<br />

Valerie Woodyatt<br />

Fiona Hiatt<br />

Bronze Members<br />

Frederick Alexander<br />

Jodie Conduit<br />

Chris Doyle<br />

Chelli Edri<br />

Library Manager Epilepsy<br />

Foundation<br />

Tamara Goong<br />

Marie Hell<br />

Gloria Hoffmann<br />

Karen Holder<br />

Eileen Jerga<br />

Gary Lee<br />

David Matheson<br />

Faye McLean<br />

May Mills<br />

Beverley O'Reilly<br />

Janiffer Reynolds<br />

Donations<br />

Sue Pinkerton’s Diana Ferrari<br />

Fundraising Shopping Night with<br />

contributions from her friends and<br />

Diana Ferrari<br />

AEIOU Foundation in honour of<br />

Lachlan Herbert<br />

Anastazia Sowter’s Jamberry fundraiser<br />

in honour of Logan Conduit<br />

Jacqui Biffin<br />

Robert Bollard<br />

Stephen Brown<br />

Annabelle Brown<br />

Clare Budge<br />

Sandra Sigrid Capper<br />

Carolyn Christoforidis<br />

Deanne Collier<br />

Carol Crawford<br />

Poly Cribb<br />

Anthony & Debbie Crosby<br />

Janis Christine Daley<br />

Ingrid Emery<br />

Joy & Ron English<br />

Peterson Family<br />

Marie-Louise FitzGerald<br />

Julia Gaston<br />

Heath Golding<br />

Robert Groneman<br />

Sue Heslop<br />

Sarah Hill<br />

Barbara Ison<br />

John Kelly<br />

Belinda Kinneally<br />

Tina Lamont<br />

Mrs Valda Lang<br />

Maureen Lynch<br />

Malcolm McLeod<br />

Alan Malsher<br />

Sue Mattinson<br />

Meg & Gracie Mclean<br />

Emma Morris<br />

Christina Mulukin<br />

Fiona Nightingale<br />

John Orr<br />

Kerrie Pefkos<br />

Russell David Phillips<br />

Ross Pinkerton<br />

Michelle Purkiss<br />

Jessica Smith<br />

Jeff ‘Chuckles’ Smith<br />

Allan Stuart<br />

Sue-lin Tin<br />

Lanya Turner<br />

Mal & Chris Whatmore<br />

John Adam Wilson<br />

Lalor Park Waratah Slimmers Inc<br />

Ayr Community Kindergarten<br />

Association<br />

Bayside Respite Care Association<br />

Inc.<br />

26<br />

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27


5 minutes with<br />

<strong>2016</strong> Western Sydney Ironman 70.3 – Jeff and Elliot<br />

Elliott (second from right) riding in<br />

Central West NSW for TSC Heroes<br />

What has inspired you to raise money for people living with tuberous sclerosis?<br />

Elliot: Sally and I became involved in TSA because my daughter Amelia who is now 20 has TSC. We were<br />

involved from an early age, as we found the support from the TSC community invaluable.<br />

Jeff: I became involved in TSA through my daughter Zarah. Zarah was diagnosed with TSC at 6 weeks old and<br />

being our first child, it turned our lives upside down. Like many rare diseases the information available was hit and<br />

miss until we found TSA.<br />

Their goal<br />

$60,000<br />

What are you doing as part of your fundraising effort?<br />

On November 27 we are competing in the Western Sydney Ironman 70.3. We have a team of around 20 people and hope to raise $60,000<br />

for TSA. You can donate to our team on the Everyday Hero fundraising website:<br />

https://give.everydayhero.com/au/tsc-heroes-ironman-70-3<br />

What do you hope to achieve by raising funds for TSA?<br />

We want to raise awareness and raise much needed funds to support families living with TSC. We want to blow the doors off the last total<br />

and reach our new goal of $60,000 and motivate other teams to get involved!<br />

Could you be<br />

a hero?<br />

The TSC Heroes team has raised over $50,000 since<br />

its inception in 2014. Members have run, cycled and<br />

swum to support people living with tuberous sclerosis.<br />

We’ll be there every step of the way to support you<br />

with ideas, uniforms and promotions.<br />

Visit www.tsa.org.au/tsc-heroes<br />

to find out more about our upcoming<br />

events around <strong>Australia</strong>.

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