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 />
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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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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 />
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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 />
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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 />
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 />
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 />
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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>.