Reach Out, October 2015, Issue 102

Reach
Out
OCTOBER 2015 ISSUE 102
Joshua’s
Story
p8
Just
Between Us
p10
www.tsa.org.au

TSA News
Contents
Editorial.....................................................................................................................................................................................................................3
President’s Report.....................................................................................................................................................................................................4
Annual General Meeting.........................................................................................................................................................................................5
My Sunshine..............................................................................................................................................................................................................5
Vale.............................................................................................................................................................................................................................5
TSC Global Awareness Day.....................................................................................................................................................................................6
Joshua’s Story.............................................................................................................................................................................................................8
Just Between Us – mTOR Inhibitors....................................................................................................................................................................10
mTOR Inhibitors in TSC....................................................................................................................................................................................... 14
TSC Research Community Sets Sights On Prevention......................................................................................................................................16
TSC International Meeting....................................................................................................................................................................................17
Meet the Researcher...............................................................................................................................................................................................17
Thanks You To Our Fundraisers..........................................................................................................................................................................18
Thank You To Our Supporters..............................................................................................................................................................................19
Calendar of Events..................................................................................................................................................................................................19
Tuberous Sclerosis Australia Inc.
Who are we?
Tuberous Sclerosis Australia is a voluntary organization established in 1981 to
connect families affected by Tuberous Sclerosis Complex. There are hundreds of
members around Australia and internationally, including families living with TSC and
professionals from the medical, caring and education fields.
Our Vision:
TSA works to connect, inform and empower people affected by Tuberous Sclerosis
Complex as we work towards a cure for TSC.
Our Values:
• Diversity – We recognise everyone’s unique experiences and contribution.
• Excellence – Our services and activities are of high quality.
• Equity – We aim to provide services that are accessible by all people with TSC,
wherever they live in Australia.
• Openness – Our decision making and communications are clear and transparent.
• Independence – We value our independence and are accountable to TSA members.
• Partnership – Collaboration with other organisations and individuals is critical to achieve our
vision.
Need more information about living with TSC?
More information about Tuberous Sclerosis Complex is available at:
The TSA website: www.tsa.org.au
Tuberous Sclerosis Alliance, USA: www.tsalliance.org
Tuberous Sclerosis Association, UK: www.tuberous-sclerosis.org
Email or call us to get in touch with a volunteer in your area. TSA has Regional Contacts throughout
Australia that can help you with the challenges of living with TSC and connect you with services and
other families in your local area:
1300 733 435 or info@tsa.org.au
Not in Australia or New Zealand?
TSA is a founding member of Tuberous Sclerosis Complex International, a
worldwide association of Tuberous Sclerosis Complex organizations.
Tuberous Sclerosis Complex international,
www.tscinternational.org
President Debbie Crosby
Vice President Vacant
Treasurer Patrick Norris
Secretary David Matheson
Committee Members Adish Chandra
Hayley Hill
Georgina Schilg
Life Members Lynn Wilson OAM JP
Andrew McKinnon JP
Public Officer David Matheson
Medical Advisory Board Dr David Mowat,
Clinical Geneticist
Dr John Lawson,
Paediatric Neurologist
Dr Sean Kennedy
Paediatric Nephrologist
General Manager Clare Stuart
2 Reach
OCTOBER 2015 ISSUE 102
Out

TSA News
Editorial
David Matheson – Editor
Living in modern society can sometimes
lead us to being constantly flooded
with information. The 24-hour news cycle,
social media, advertising, mass media and
the frantic pace of modern life all compete
for our attention and interest. We can easily
experience information overload. At times
we receive so much information that it can be
difficult to absorb any more. It’s like our brains become
inundated with all of the stuff that we are subjected to.
It is worthwhile stopping to ask ourselves how important all the
information we are receiving really is. The breaking news story that
grabs our attention today may not even be mentioned tomorrow,
and in a week or a month we probably won’t remember much
about it. The emails or social media posts we read can sometimes
be of a trivial nature. The websites that we click through may waste
our time with unhelpful information. It seems that sometimes we
spend a great deal of time absorbing information that does little
to enhance our quality of life. What may be helpful is to focus on
the essential information that will be of benefit to us and to let go
of some of the less useful information; however, selecting the right
information to focus on is not always easy and is a skill to learn. We
can develop this skill by evaluating information in terms of its likely
usefulness and reflecting on what sources have previously been
valuable. Deciding to ignore things that are not likely to be useful or
valuable can stop some of the overload.
It can be challenging to find a time of quiet to simply relax and
switch off from the constant flood of information. Life for those
caring for people affected by Tuberous Sclerosis Complex is often
very hectic, involving frequent visits to medical specialists and
other people involved in the care of their loved one, let alone the
constant care and attention they provide at home. But making time
to step aside from the information overload, if only for a short time,
enables people who care for others to recharge their batteries and to
be more effective in what they do.
The 2015 Australian Tuberous Sclerosis
Family and Medical Conference will be held
in Sydney in November. This conference will
provide participants with information that
is very useful to people who have Tuberous
Sclerosis Complex, the people who care for
them, their relatives and friends. Presenters will
include international and Australian speakers who
have expertise in certain aspects of TSC and its management.
While the conference may add to the information overload for some
people, hopefully it is valuable and relevant information that is of
practical use. More information about the conference and online
registration can be found on the conference webpage: www.tsa.org.
au/2015-conf
What may be helpful is to focus
on the essential information that will be
of benefit to us and to let go of some of
the less useful information.
This issue of Reach Out has a focus on the use of mTOR
inhibitors in Tuberous Sclerosis Complex. mTOR inhibitors are
a relatively new medication in TSC, but research has shown that
they can be very effective in the treatment of some symptoms of
TSC. People throughout Australia and New Zealand have found
positive results using mTOR inhibitors. You can read more about
this in the ‘Just Between Us’ section, starting on page ten of this
issue. The success of mTOR inhibitors demonstrates that ongoing
research into TSC and its treatment can bring about positive
results for those affected.
Reach Out Official journal of Tuberous Sclerosis
Australia, Inc.
17 Linksview Road, Springwood NSW 2777
Telephone: 1300 733 435
Website: www.tsa.org.au
Email: info@tsa.org.au
ABN 20 681 174 734
Incorporation no. Y 07116-42
Registered Charity CC25313
Reach Out Editor: David Matheson reachout@tsa.org.au
Disclaimer
The opinions expressed in this journal are those of the
authors and are not official pronouncements of TSA Inc.
Permission
Permission must be sought from the authors or publishers
to reproduce in any way articles or information contained in
this journal. Once permission is received the source must be
acknowledged.
3

TSA News
President’s Report
Debbie Crosby
Welcome to another issue of Reach
Out. It has been a very busy year for
Tuberous Sclerosis Australia and the last
six months have gone very quickly. Our
focus in these past months has been on
planning for the future and how our organisation
can grow so that it can provide
the best services and information to our
members. We held a strategic planning day
to help us review what our goals and focus
will be in the next two to five years and
how we will find the resources, funding
and people to support our organisation.
Clare Stuart, our General Manager,
has been very busy organising the 2015
Australian Tuberous Sclerosis Family
and Medical Conference that will be
held in Sydney on 14 and 15 November.
This conference is held every four years
and aims to provide the latest research
and information for both families and
health professionals. The conference is
a wonderful opportunity to learn more
about TSC, and most importantly to meet
other families living with TSC. For some
people this may be their first time meeting
others affected by TSC, and for some of
us it is an opportunity to catch up with
people we have met at previous events and
conferences. As a parent of a child with
TSC, I can understand it may sometimes
feel overwhelming attending these conferences
or it is difficult to find care for your
child so you are able to attend. I would
like to encourage you to attend, as many
families have given us positive feedback
from previous conferences about the new
information they received about TSC and
the great connections they made with
other families. Registration is open and all
of the information is on our website.
Recently I attended a Health Consumer
Advocacy conference that brought
together many different patient organisations
that help support people living
with rare diseases. I was overwhelmed
by how many organisations are run by
people who live with a rare disease or by
a family member. Most of the organisations
were run by volunteers or had a very
small group of staff. Nearly all of them did
not receive any government funding and
depended on the generosity of their members
and their families for fundraising and
donations. Just like Tuberous Sclerosis
Australia, these organisations want to
improve the lives of people living with rare
diseases and there are many challenges
we have in common. We all have big ideas
on how we would like to support families;
however, having the money, time and
resources to bring these ideas to life is the
challenge.
The conference is
a wonderful opportunity
to learn more about TSC,
and most importantly to
meet other families living
with TSC.
Speaking of challenges, fundraising
and raising enough funds to keep our
small organisation running are always
a big focus. We held our second Lizzie’s
Lunch in June and it was a great success.
This year the event raised over $11,000,
which will fund information and support
services for individuals living with TSC
and their families. I would like to thank
Clare Stuart for organising the event,
and Sue and Ross Pinkerton and their
extended family and friends for supporting
this event.
I would also like to thank Belinda and
Darren, who formed the TSC Heroes team
in this year’s City2Surf in August. They
completed the race to honour Darren’s
wife and Belinda’s sister Maryanne, who
recently passed away due to complications
related to TSC. They raised over $3,000
for TSA and we really appreciate their
spirit and generosity.
If you would like to hold an event or
have a fundraising idea please contact
us through our website and we can help
support your event. These events and the
money raised help TSA provide information
and support to individuals and
families living with TSC.
I would like to thank our wonderful
volunteer Committee Members and
Regional Contacts who help TSA operate
and provide services to our members. We
really count on these volunteers as we only
have one paid staff member and there
is so much to do. I would especially like
to thank Kate Norris, who has stepped
down from the TSA Committee to focus
on her full-time job and her family. Kate
was a very valued part of our committee
and served as Vice President. She will be
missed. Kate made a wonderful contribution
to our committee and was very
dedicated in helping support TSA.
If you or anyone you know would
like to volunteer on the TSA Committee
or on a specific project please contact us
through our website: www.tsa.org.au.
Reach
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OCTOBER 2015 ISSUE 102

TSA News
Annual General
Meeting
The TSA Annual General Meeting will be held in Sydney on 14
November in conjunction with the Australian Tuberous Sclerosis
Family & Medical Conference.
Date: Saturday, 14 November
Time: 1:00pm
Venue: Colombo Theatres, University of New South Wales
Elections for positions on the Tuberous Sclerosis Australia Committee
will be conducted at the AGM.
In accordance with the TSA Constitution, nominations for positions
must be made prior to the Annual General Meeting, must be made
in writing, must be signed by two members of TSA and be accompanied
by the written consent of the candidate.
The TSA committee is the backbone of our
small and growing organisation. We are
currently looking for new Committee Members
and would like to invite you to join our team
of dedicated volunteers.
We are looking for people with a personal
connection to TSC, including parents,
grandparents and individuals with TSC. If you,
a friend or family member are interested, or
if you would like more information, please
contact Debbie Crosby: deb@tsa.org.au.
My Sunshine
Kim Hoban, Kobi’s grandmother, Melbourne
want to share this success with the TSC community as it may
I help other kids that are non-verbal and their carers who are
looking for a communication device. I am the sole carer of my
13 year-old grandson Kobi, who has Tuberous Sclerosis Complex
and suffers with severe development delay. Kobi is non-verbal
apart from a few words, and he attends a special school here in
Victoria with amazing staff. Last year they introduced Kobi to
a communication device which was very cumbersome and very
hard to navigate. To be honest, Kobi showed little interest in it.
In October last year I saw an advertisement for a
communication app called Aacorn, which is used on an iPad.
After some research I approached Anglicare Victoria’s Disability
Services for funding. To my delight, through their ‘Making
a Difference’ program they supplied us with a mini iPad and
iTunes gift cards to cover the cost of the app. The results have
been amazing. Kobi is a pro at using it: in no time he was
navigating through the app with ease. Within a few months he
was making up
whole sentences.
You can add new
words and photos so
you can incorporate
familiar things and
people in the person’s life.
Kobi is my sunshine
Kobi
and I’m just so happy that he
can now tell me what’s on his mind. I
know it must have been so frustrating for him to not be able to
communicate. Most of all I love that he can share his feelings. I
tell him all the time that I love him and to hear Kobi say it back
for the first time was one of those moments I’ll cherish forever.
You can view a short video and more information about
Kobi’s experience at www.tsa.org.au
Vale
ale’ to David Edgell who died
‘Vsuddenly of a heart attack recently,
aged 80. David was the father of Neil,
who has TSC. David and his wife Pam
were very supportive and involved in
the early years of Tuberous Sclerosis
Australia in Western Australia. He was
also a great advocate for Neil and others
who live in care in Western Australia, and
was most recently involved in a group
called CARD (Carers About Residences
for Disabled). TSA remembers the great
work that David did and acknowledges
him as a supportive member of TSA in
Western Australia.
5

Events
TSC Global Awareness Day
The theme for this
year’s TSC Global
Awareness Day on 15
May was ‘#IAMTSC’.
Academy Award
winner and children’s
author Julianne
Moore featured in a
short video describing
the experience of one
person with TSC. The
campaign enabled
people affected by
TSC around the world
to show that they
are each a unique
individual and that no
two TSC stories are the same. An online gallery included photos
uploaded from many countries, including Australia and New
Zealand. The gallery can be viewed at www.tscglobalday.org/
gallery.aspx
Also in conjunction with TSC Global Awareness Day, picnics
were held in several locations around Australia and New Zealand.
Picnics like this are valued by participants as a way of meeting
other TSC families in a relaxed atmosphere.
Perth Picnic
As our scheduled Western Australia Picnic Day in May
had to be cancelled due to terrible weather that day, we
held an afternoon catch up at a later date at Lotterywest
Family Area in King’s Park. Seven families attended and
had the opportunity to catch up and share stories. It was
a great way to spend the afternoon.
Nicole Stone, Western Australia
6
Adelaide Picnic
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Sunshine Coast Picnic
OCTOBER 2015 ISSUE 102

Events
Melbourne Picnic
Three gatherings were held on Sunday, 17 May to mark
TSC Global Awareness Day.
The sun came out for a lovely afternoon at the
Waikato/Bay of Plenty gathering at The Falls café
at McLaren Falls Park. It was great to catch up and
share celebrations, challenges and some good news
about improvements in care for people following the
information shared at our New Zealand conference.
There was also a wonderful turn out of families at the
Auckland/Northland TSC gathering held at the Auckland
Botanic Gardens in Manurewa. Stories were shared over
a cup of tea. New friendships were formed and lots of
cupcakes eaten!
Thanks to Aeny for organising the Christchurch gathering.
Unfortunately the wintry weather kept people at
home this time. We will make sure there are more
opportunities for South Islanders to meet up, perhaps in
a warmer season!
Helen Willacy, New Zealand
NZ Picnic
7

Personal Stories
Joshua’s story
As told by Rebecca, Joshua’s mum
At the 22 week ultrasound of my pregnancy with Joshua I was
by myself. I had all other scans with my partner Jesse or other
family and everything had been normal, except that Joshua had
been on his tummy for all of them. It was in this scan, while I was
all alone, that I was told there was a problem with Joshua’s heart.
Doctors were brought in but they couldn’t confirm what the heart
condition was so I was referred to have echocardiography four
days later.
Those four days were very long. Jesse and I were very anxious
to find out more. At the echocardiography we were told that
Joshua has a tumour called a cardiac rhabdomyoma, common
in children with Tuberous Sclerosis Complex. I had to attend
ultrasounds every two weeks, and echo appointments on the
off-weeks. Jesse and I were referred to Hunter Genetics.
Our bodies were tested with a blue light to check for white
patches on our skin, which may have indicated we had TSC.
Thankfully, neither of us showed these. At this time I was 25
weeks pregnant, and the staff discussed the option whether
we wanted to terminate the pregnancy. Jesse and I bawled our
eyes out and said we would love our child no matter what the
outcomes, and we would give him the best life possible.
Jesse and I were so upset following this appointment. Jesse
went online and researched as much as possible on TSC. This
made us more upset as it didn’t answer any of our questions. We
couldn’t know how TSC would impact our child because it is very
different for each person. We didn’t know what to expect.
When Joshua Dean Penman was born, he was perfect. He
had a white patch on his head, lesions on his back and the heart
tumour; an eye test when he was two weeks old showed a tumour
in his left eye. At only three weeks old he had his first MRI. It was
difficult to settle him into the machine and traumatic for all of us.
From the MRI we found out Joshua also had TSC lesions in his
brain. Genetic testing of his blood was the final confirmation that
Joshua had TSC.
Jesse and I bawled our eyes out and
said we would love our child no matter
what the outcomes, and we would give him
the best life possible.
We felt worried, scared and didn’t know what would happen.
There was a period of self-blame and guilt, thinking we had
caused this to happen to Joshua. There were nights when I sat up
and worried that it was definitely me who caused it. Although we
had our skin tested, we hadn’t had our blood tested. Jesse and I got
our blood tested, and it turned out that no one in the family has
TSC. We were told that if we have any more children it would be
highly unlikely that they would have TSC.
We reacted to Joshua’s TSC diagnosis by living in the moment.
We didn’t want to think ahead. Our lives were filled with many
doctor appointments and invasive tests. It was confronting and
sad to find out that the tumour in Joshua’s eye was growing
rapidly. The medical support Joshua received was very good, but
often we were told about all the future possible health challenges
that Joshua could face. It was too much to consider when we were
busy concentrating and getting through the present.
At 11 months of age Joshua was diagnosed with epilepsy.
While we were out grocery shopping his temperature went right
up and he had his first absence seizure before we even made it to
the doctor’s surgery – he wouldn’t respond to me and his face was
very droopy. He is on anti-epilepsy medicine but still has seizures,
particularly when he is unwell. He has multiple check-ups every
few months with specialists and regular MRIs. These MRIs
involve Joshua being sedated, which always makes me worry.
His most recent MRI showed a large SEGA brain tumour, and he
will have his next MRI in eight weeks’ time to make sure it is not
growing too quickly as it can affect the fluid in Joshua’s brain.
One day at the end of last year Joshua appeared normal in the
morning but became quiet after dinner time. Within an hour he
became very warm. A little while later Joshua started to have a
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OCTOBER 2015 ISSUE 102

Personal Stories
fit. I called the ambulance and put him on his side. Joshua started
frothing at his mouth and the ambulance arrived. The paramedics
administered midazolam but that didn’t work and Joshua began
to turn purple. The paramedics lifted him on the gurney and put
him straight into the ambulance and performed CPR until a backup
ambulance arrived as they required additional paramedics on
the way to the hospital. I climbed in the front of the ambulance
because there were so many paramedics I couldn’t fit in the back.
Joshua was still seizing as we drove to John Hunter Hospital.
It was such a sense of relief to
meet someone who is dealing with the
same thing we are.
Seeing Joshua being worked on by a team of ten doctors, having
a tube put down his throat and still not responding was too
much. Jesse and I were crying and thought this was it, that we
would lose Joshua. Joshua was put into a coma for four days.
In the doctor’s records the seizure that took Joshua to hospital
lasted four hours. About a week passed until Joshua was taken
from intensive care to the ward. I stayed with Joshua the whole
time and didn’t get any sleep for 37 hours straight. I was so
worried that if I shut my eyes he would have a seizure again.
Currently we put cream onto Joshua’s face to stop his facial
tumours from spreading. Recently a new higher dosage was
prescribed. We want to get on top of it straight away because
these tumours can be quite disfiguring. I don’t want it to impact
on his self-esteem. He already has enough to deal with: white
patches on his skin and on his hair, going to specialists to check
the growth of his tumours, and more. The cream we have been
using so far is $169 for a 30 milligram jar, which lasts us just
over a month. At a recent check-up, the skin doctor found
that the dosage wasn’t strong enough, so we are now trying a
stronger dose which is $150 for only 15 milligrams. We know
there may be large medical expenses in the future. As a family
we will spend whatever money we can to help Joshua, but it does
impact a lot on our family budget.
We worry about Joshua’s future as we don’t know what it
will hold. He’s only two years of age and he already has tumours
in his eyes, skin, brain and heart, and also has epilepsy. We
also recently found out he has learning difficulties: Joshua is
struggling to communicate now after a number of seizures, but
he is starting speech therapy and is a whiz at using the iPad.
When we think about Joshua’s future, Jesse hides his feelings
and doesn’t like to show he’s upset but it worries me. I cry
because I feel Joshua’s been through so much already. I wish I
could be the one to go through it all. I’ve written down Joshua’s
story because we need a cure for TSC. Funding is needed for
research that will make sure children with TSC won’t be so
affected by this disease. Money can also go to providing access
to current information and resources, and helping families
build support networks.
I attended a Tuberous Sclerosis Australia picnic in my local
area last month, which was eye-opening. We’d never ever met
anyone with this condition; it was such a sense of relief to meet
someone who is dealing with the same thing we are. We met
children older than Joshua with TSC and heard their stories.
It was a relief to meet others and feel supported, but also scary
to see the many various symptoms and effects of TSC and not
know how the disease will impact on Joshua in the future.
You just don’t know what each day brings with this condition.
Despite everything this condition holds, Josh is the happiest,
most lovable baby, and I’m truly blessed.
9

Personal Stories
Just Between Us
mTOR Inhibitors
Adam and mTOR Inhibitor Medication
Les and Peta Cope
Our family first became aware of mTOR inhibitor
medication when attending a Tuberous Sclerosis Australia
conference in Sydney several years ago. At the time it had not
been approved but we heard the story of a young woman who
had it prescribed as a last resort. The change it made to her life
absolutely blew Adam away. He wanted to try it immediately
but this was not possible due to the constraints and affordability
of this medication. Adam is 42 years-old and has Tuberous
Sclerosis Complex, complex communication needs, epilepsy,
apraxia and cognitive difficulties. He requires support in all
areas of his life including aspects of daily living, communication
and to access the community. Apraxia affects his ability to carry
out cognitive actions, even though he knows what is required.
As a teenager his cognitive abilities were easier to manage using
physical and verbal prompts. As a middle-aged man he now
struggles to maintain what he refers to as his earlier teenage
angst. It is a much more difficult path for him now as constant
absence seizures block everything he wants to do. When some
cognitive actions or direct thinking and doing are required he
may go into sleep mode as a coping mechanism.
We hope to see more
improvements in Adam as we go
through this process.
The decision to try mTOR inhibitor medication came after it
was placed on the Pharmaceutical Benefits Scheme. We approached
Adam’s neurologist who was sceptical as to what cognitive results
it might have. He referred Adam to a kidney specialist as mTOR
inhibitor medication is used to shrink growths in the kidneys.
The kidney specialist working with the neurologist began with
brain and kidney scans to establish a baseline prior to beginning
Everolimus. The kidney specialist began with a small dose of
Everolimus to avoid potential side effects. The dosage was increased
over a 12+ month period, keeping a constant eye on Adam’s health
and well-being, including regular kidney and brain scans.
On his last visit to the specialist we were a bit disappointed to
learn that his scans showed no change. However, the specialist was
pleased because there was no further growth. He was therefore
very happy to increase the dose and continue with the treatment.
We are careful Adam maintains his health and where possible
is kept away from others who might have infectious diseases.
mTOR inhibitor medication affects the body’s immune system,
so healthy food, vitamin tablets and regular exercise are essential.
His daily diary records all of these requirements along with
general notes and observations from his workers and us. This
ensures everyone working with him is on the same page and
Adam’s health, life plan and supports are maintained.
What has been observed during Adam’s use of mTOR
inhibitor medication?
• His facial rash has lessened considerably and is not as
noticeable. On occasions the redness reappears but this is
minimal. He still has a number of large lumps on his chin
although the redness on these has disappeared.
• His kidneys are now much clearer than before starting the
medication.
• There has been no increase in the size or quantity of SEGAs
in the ventricles of his brain. (Observed in scans for kidneys
and brain taken twelve months apart.)
• A number of cognitive improvements have been observed
over the past 12 months. These gains are not yet constant.
Other medications being used for seizure control are
currently being withdrawn and are impacting on consistent
cognition results. It may take another year before earlier
medicines are out of his system. Some improvements we
have observed include:
• Using only verbal prompts and independently picking
up an item, carrying it to the boot of a car, waiting and
then placing it into the boot. He usually picks up an item
with physical and verbal prompts but never completes
the task; i.e. drops it or puts it onto the nearest available
surface: table, chair etc.
• Sitting focused and interacting at a support meeting.
Head held high and clearly listening without seizure
distractions. Observed only a few times. Usually his
demeanour is to have his head down and appear to be
‘away with the fairies’. This is his way of coping with
seizures or headaches.
• Listening and interacting appropriately at a local writing
group. Although his head was down on the table he was
obviously listening while members of the group were
reading stories. He usually crashes and goes to sleep with
his head down on the table.
• Interacting appropriately with friends in a café when
his support worker arrives and others say ‘hello Kerry’.
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Personal Stories
Smiles, turns his head and eyeballs her directly. Not
observed before in the past 20 years.
We hope to see more improvements in Adam as we go through
this process. Unfortunately it’s not a clear case yet of seeing major
reliable improvements as his body is so dependent on other
medicines to counter his seizures. If the SEGAs in his brain are
reduced as a result of the mTOR inhibitor medication that will be
a major plus .The brain is a complex organ that has the capacity to
create new pathways for improved cognition. We can only wait,
hope and ensure his health is secure to enable him to continue
with the medication safely into the future.
Several days after completing this article Adam had several
falls that did not appear to be the result of epileptic seizures. On
checking we found his blood pressure was far too high. This is not
usual as Adam’s blood pressure is consistently within the normal
accepted range. One of the many potential side effects of mTOR
inhibitor medications is an increase in blood pressure. We are
currently waiting for a response and report from his specialist to
see what our next step should be.
Ava’s Experience with mTOR Inhibitors
Joelle Neville
Ava
Ava is ten years-old and has Tuberous Sclerosis Complex
(TSC). She loves gymnastics, drama and horse riding,
and is generally a very happy little girl. She has used mTOR
inhibitors as a topical treatment for angiofibromas and also as
a medicine to help manage epilepsy.
Through Dr Anne Halbert at Princess Margaret Hospital
Ava was enrolled in one of the early trials of Sirolimus to treat
facial angiofibromas. Before that Ava had been having regular
laser surgery, which would take the redness away for a couple of
weeks but then it would all just come back again. The cream was
pretty amazing and after a week most of the redness had gone
out of her face. Fast forward a couple of years and we only apply
the cream once a day, and looking at Ava you would not know
anything was there at all. We are fortunate in Perth to have this
Every time we increased the dose
of the medicine the seizures would settle
down for a couple of days and then they
would return.
funded through the hospital and we look forward to when the
cream is available and affordable around Australia for people of
all ages – we have seven and a half years to make this happen for
Ava! We couldn’t be any happier with the face cream.
When we first started Everolimus for Ava’s seizures she
was already on three anti-epilepsy medicines and she had
been through several brain surgeries. We heard stories of large
reductions in seizures when people with TSC took mTOR
inhibitor medicines and had such a good experience with the
face cream. We paid for the medicine ourselves to see if it could
work for Ava. Every time we increased the dose of the medicine
the seizures would settle down for a couple of days and then they
would return. If anything, by the time Ava was getting towards
the maximum dose her seizures got worse and were quite scary.
We don’t know if this was related to the Everolimus as when we
took her off the medicine those seizures stuck around. We stopped
Everolimus and started using a hemp oil product in addition to
Ava’s anti-epileptic medications and that has worked really well
for Ava. We have now come off all prescription medication and
seizures are relatively well controlled.
Ava didn’t experience any of the negative or positive side effects.
For example, she didn’t have mouth ulcers and also didn’t see any
improvements in cognition, attention or sleep. Ava does not have
any kidney AMLs or SEGAs in her brain that would have benefited.
If Ava had other reasons to benefit from mTOR inhibitor medicine
we would consider trying the medicine again. We know we are just
one in a million stories out there and I know that TSC is a changing
condition, but I want as many options as possible.
mTOR inhibitors in New Zealand
Helen Willacy
think our story of accessing Sirolimus cream for our 13 yearold
son Mac is a great example of the power of groups like
I
Tuberous Sclerosis Australia and Tuberous Sclerosis Complex
New Zealand.
In 2011 my husband and I received a grant to attend the TSA
conference held in Sydney. It was the first time we had heard about
the growing body of research into using mTOR inhibitors to treat
various aspects of TSC. We were particularly interested in the
Sirolimus cream to treat facial angiofibromas.
Mac had started developing angiofibromas at around age three
and they were increasing in number, bumpiness and redness. He
had been offered laser treatment in the past but had never wanted
to go through what sounded like an unpleasant procedure with no
guarantee of good results. When we heard there was an option of
a simple cream that was effective I was very keen for Mac to try it.
To me, Mac’s angiofibromas were a constant reminder of TSC and
the uncertainty we were living with. There is a lot we can’t control
about TSC, but this cream had the potential to give us control over
one aspect of it.
On my return from Australia I set about finding out how
we could access the cream. I tried seeing if Mac could go on the
Sydney trial being funded by TSA but the trips to Sydney for the
research checks ruled that out. Next stop was a visit to the GP
asking for a referral to the dermatologist at our local hospital.
To begin with Mac was told he could not have an appointment
and they would not even put him on the waiting list, but that’s
another whole story about access to health services. Thankfully
our GP pushed back and Mac was given an appointment.
We turned up with our new found knowledge and enquired
about getting a prescription for the cream. Predictably, the
11

Personal Stories
After the conference in New Zealand in November 2014, I was
encouraged by others’ experiences of gaining funding for Sirolimus
cream through the Special Authority scheme at Pharmac. Mac and
I set off to the dermatologist optimistic about getting the cream
funded only to find that our friendly dermatologist has moved on
and the new one was reluctant to prescribe the cream off-label, let
alone apply for funding for it! A little disappointed, I emailed her
the article from the Perth study and waited. A few months later we
got the news were hoping for. Mac had a Special Authority Number
and his cream would be funded for two years. We still have to pay
a compounding fee but our most recent pot only cost NZ$40, a
big improvement on what we had been paying. It has been great to
hear that another family in the area have also been able to get the
cream prescribed and funded.
Mac
dermatologist had not heard of it before but was interested. He
said he would do some investigating and applied for funding
for the cream. At that time the percentage of Sirolimus needed
was thought to be 1%. This meant the cream would cost around
NZ$7,000 and our funding application was turned down.
A short time later I received an email out of the blue from the
dermatologist. He had read the report on the Perth study into
Sirolimus cream for children with TSC and the effectiveness of
0.1% in treating them. You can read this article at www.tsa.org.au/
type/research-article/.
He posted us a script and all we needed to do was find a
pharmacy to compound it for us and pay the cost of the cream.
Since the percentage of Sirolimus was so much smaller, the price
was a tenth of the original quote. This was still a substantial
amount of money and the first pot cost us around NZ$450. Luckily
our local pharmacy had Sirolimus in stock and were able to make
up the cream.
I had a moment of indecision the night Mac was to first use the
cream. Was it really safe and necessary to use this “experimental”
treatment? Was I being an irresponsible mother in pushing for
this? The information I had heard at the conference reassured
me and we gave it a try. At first he applied it morning and night.
The cream was a little gritty but by the morning that would be
absorbed. He experienced some weepiness after applying it but
that soon settled down. The results were almost immediate. After
a week the redness had faded and soon the bumpiness began to
subside as well. There are still a couple of larger angiofibromas
that do not seem to have changed but on the whole the result has
been just what we hoped for.
Because there was such a big improvement the dermatologist
suggested reducing the dose to night only, which was more
practical as well because of the grittiness of the cream. Mac has
used the cream since 2012. We found a small tub would last
longer than six months and I felt the financial cost was well
worth it.
Mac’s angiofibromas were
a constant reminder of TSC and the
uncertainty we were living with.
Mac does not use the cream every day and I feel that he
has the right to decide what his face looks like. Maybe he will
decide that he is happy with angiofibromas. After all, they are a
part of him and his identity as a person with TSC. However, it
is awesome to have the choice available to him to be able to use
the cream or not, and I am very grateful for the information and
research that has enabled Mac to access it. And looking back I feel
pretty proud of myself too! A knowledgeable, patient (most of the
time), determined mum can achieve a lot.
Rebekah’s Experience with Everolimus
From an interview with Sue, Rebekah’s Mum
How did you and your medical team make the decision to use an
mTOR inhibitor medicine?
Rebekah has TSC and is in very good health. The first time
Rebekah saw a urologist was in 2001; Rebekah was 28. This first
visit was encouraged after attending a Tuberous Sclerosis Australia
conference where it was suggested kidneys should be checked every
five years (the guidelines now recommend one to three years). That
was when we first learnt that she had angiomyolipomas (AMLs)
in her kidneys. Rebekah had yearly scans for the first few years in
which the AMLs increased in size.
She had one unsuccessful attempt at embolisation, a type
of surgery that cuts off blood supply to the AMLs. Then they
appeared to be steady for a few years. She was not required to go
back for three years but then somehow that became eight and we
saw an increase in both size and number of AMLs. Around the
same time we saw the first signs of her kidneys not working as well
as they should - her urine test showed raised levels of creatinine.
We talked to her urologist about options. We didn’t think
embolisation was a good option as her many AMLs were being fed
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Personal Stories
by a large number of very small
blood vessels - they looked like
spider’s webs.
Did you have any challenges with
accessing the medicine, such as
special authorities or it being too
expensive?
Around the time of our appointment
Dr Chris Kingswood,
a TSC expert nephrologist
from the United Kingdom,
had been in Australia speaking
Rebekah
to kidney doctors about mTOR
inhibitor medicines. He also
spoke to families in Melbourne at a TSA event. Rebekah’s urologist
had heard Chris speak so was up to date on the research about the
use of these medicines in TSC. The urologist had not prescribed
these medicines before, so he sought the help of a nephrologist
who had more experience in using Everolimus as a part of kidney
transplant medicine.
Starting the Everolimus involved a monthly blood test to get
the dosage right. Now we only have blood tests for this reason
every three months. It also took a little while to get the dispensing
process with the local pharmacy worked out as the medicine
requires a special authority and takes a few days to arrive. This
means that Rebekah has to be organised to make sure she doesn’t
run out.
Were you worried about using
the medicine? What were the
negatives of using the medicine?
The biggest challenge in starting
Everolimus was the introduction
of something new for
Rebekah: more doctors, more
blood tests, taking another
medicine. She has told me that
it would have been easier for her
to have a new medicine added
David & Rebekah
when she was younger as she
would have just grown up taking
it, rather than worrying about something new now. Rebekah
was quite worried after reading the list of possible side effects.
Rebekah was also worried about which foods she could eat, and I
was worried whether there would be any interaction with her other
medicines or the complementary medicines she takes, particularly
when she gets a cold or flu. The nephrologist was able to assure us
that these would not be a problem.
Rebekah had a few mouth ulcers in the first couple of weeks
which subsided very quickly and were not chronic enough to really
search for something to help with them. I don’t think Rebekah
has been getting more viral infections or other illnesses than
she usually would; if anything I would say this winter she has
recovered more quickly than usual from the usual seasonal viruses.
When we travelled to Europe recently she was worried about
getting sick and her doctor adjusted the dose to give her some
peace of mind to enjoy the holiday and this helped.
What were the positives of using the medicine?
Everolimus seems to have done its job with Rebekah’s kidney
AMLs. The first follow-up scan last year showed considerable
shrinkage. We look forward to another scan soon to see her progress.
There have been other benefits as well. The ungual fibromas
on her toes and fingers have disappeared, miraculously gone. Her
facial angiofibromas have also improved and we’ve seen a remarkable
improvement in her severe atypical dermatitis. Rebekah
says that she feels she can think more clearly; she says her head is
clearer. I have noticed (along with her family and friends) that she
is much more interactive and initiates conversation more than she
ever did.
Everolimus seems to have done
its job with Rebekah’s kidney AMLs. The
first follow up scan last year showed
considerable shrinkage.
Another benefit for Rebekah has been on a neuro-endocrine
cyst on her pancreas. Around the time we started Everolimus
we considered surgery to remove this 3cm growth because most
doctors did not recommend taking a risk with a growth on the
pancreas. We delayed the surgery when starting the Everolimus
and on a follow up scan it had shrunk considerably down to 1.9
cm. Rebekah’s lungs were screened for LAM two years ago and
showed early signs of this disease. A more recent test showed a
small improvement in her lungs, where usually a woman with TSC
could expect a decline.
Overall Everolimus has been positive for Rebekah and we
look forward to her next round of tests to check on the size of her
kidney AMLs.
Just Between Us: Next Issue
The next issue of Reach Out will
include a focus on the National
Disability Insurance Scheme
(NDIS). Are you in a launch site
and have an experience to share?
Or are you preparing for when this
change is coming to your area?
We want to share your stories
with the TSC community.
13

Information
mTOR Inhibitors in TSC
Clare Stuart, General Manager, Tuberous Sclerosis Australia
As with all information published in Reach Out, this article
provides basic information about Tuberous Sclerosis
Complex (TSC). It is not intended to, and it should not,
constitute medical or other advice. Readers are warned not to
take any action without first seeking medical advice.
What is an mTOR inhibitor?
In an individual with TSC their cells are unable to produce
either the protein called TSC1 or the protein called TSC2. These
proteins play an important role in controlling how many cells
grow and how large they grow. Without the proteins, tumours
can form.
The term mTOR inhibitor refers to a group of medicines. The
generic (official) names for the two main medicines are Sirolimus
and Everolimus.
mTOR inhibitor medicines seem to do a similar job in the body
as the TSC1 and TSC2 proteins, controlling how many cells grow
and how large they grow. Scientists think this is the reason the
medicines are effective in reducing the size of the tumours in some
people with TSC.
Sirolimus also has the following names:
• Rapamycin (Australia/NZ);
• Rapamune;
• RAPA.
Everolimus also has the following names:
• Afinitor (Australia/NZ);
• Votubia;
• RAD001;
• Zortress;
• Certican.
Research into the use of mTOR inhibitors to treat a range of
symptoms of Tuberous Sclerosis Complex has demonstrated
effective results. Further research is ongoing.
The importance of TSC experts in using these medicines
mTOR inhibitors should be prescribed by a doctor experienced
in their use for symptoms of TSC. Your doctor may benefit from
talking to another doctor who has this experience. You can contact
TSA if you would like help to identify a doctor with this experience.
Side effects of mTOR inhibitors
mTOR inhibitors may reduce the effectiveness of some other
medicines, including anti-seizure medications.
Side effects of mTOR inhibitors can include:
• Mouth sores (oral ulcerations);
• Reduced resistance to infection;
• Shortness of breath, cough and fever;
• Amenorrhea (periods stopping temporarily);
• Delayed healing of wounds;
• High cholesterol levels;
• Acne.
mTOR inhibitors may affect fertility and should not be taken in
pregnancy.
Doctors use blood tests to monitor side effects. This may
include checking the kidney, liver, immune system, cholesterol
and blood sugars. Blood tests also check levels of the medicine in
the blood, which determines whether the dose is correct.
mTOR inhibitors may interfere with many other medicines,
including anti-seizure medications and some antibiotics. These
interactions may reduce the effectiveness of some medications or
increase the risk of side effects. Always check with your doctor
whether new drugs will interact with pre-existing medications
and ask whether the levels of medicines should be checked.
Research is ongoing and may identify long-term side effects
that are not yet known. So far researchers have been reassured
by finding only relatively minor side effects in the majority
of people taking the medicine. However, as with all new
treatments, doctors and patients need to remain vigilant.
mTOR inhibitors for SEGAs
What is a SEGA?
SEGA stands for subependymal giant cell astrocytoma. A SEGA
is a benign tumour of the brain that occurs in about 15% of
people with TSC. You can read more about SEGAs here:
www.tsa.org.au/information/brain/
Who should I speak to about this?
Consult your neurologist to find out more about this medicine
and to discuss how this information applies to your individual
circumstances.
mTOR inhibitors for kidney angiomyolipomas
(AMLs)
What is an AML?
Angiomyolipomas (AMLs) are a benign tumour in the kidneys
made up of blood vessels (angio), muscle (myo) and fat (lipo).
They occur in about 80% of people with TSC. You can read more
about AMLs here: www.tsa.org.au/information/kidneys/
Who should I speak to about this?
Consult your nephrologist or renal physician to find out more
about this medicine and discuss how this information applies to
your individual circumstances.
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Information
mTOR inhibitors for facial angiofibomas
What are facial angiofibromas?
Facial angiofibromas are overgrowths of normal skin cells made up
of blood vessels (angio) and fibrous tissue (fibroma). They occur in
the majority of people over five years of age with TSC. You can read
more about facial angiofibromas here:
www.tsa.org.au/signs-and-symptoms/skin/
Who should I speak to about this?
Consult your dermatologist to find out more about this medicine
and discuss how this information applies to your individual
circumstances.
mTOR inhibitors for lymphangioleiomyomatosis
(LAM)
What is LAM?
Lymphangioleiomyomatosis (LAM) is a lung disease that almost
exclusively affects women, usually between the onset of puberty
and menopause. When a person has LAM, an unusual type of
muscle cell is found in their lungs, airways, and blood and lymph
vessels. Over time, these muscle cells destroy the lungs and make it
difficult for oxygen to get across the wall of the airway and into the
blood cells. This prevents the lungs from providing oxygen to the
rest of the body. You can read more about LAM at:
www.tsa.org.au/information/lungs/
Who should I speak to about this?
Consult your lung physician to discuss how this information
applies to your individual circumstances.
mTOR inhibitors for other signs and symptoms of TSC
What research has been done?
There are a number of studies that are complete or in progress for
these signs and symptoms of TSC:
• Epilepsy;
• Cognition and autism.
Early results of these studies are expected during 2016. In addition,
the clinical trials investigating mTOR inhibitor use for SEGAs
(EXIST-1) and kidney AMLs (EXIST-2) found some evidence of
improvements in epilepsy, cognition and autism in patients taking
an mTOR inhibitor.
Despite the lack of formal evidence of effectiveness and no
approvals for use, some doctors will consider prescribing an mTOR
inhibitor to treat other signs and symptoms of TSC. This is called
“off-label” use.
Who should I speak to about this?
Consult your doctor to find out more about this medicine
and discuss how this information applies to your individual
circumstances.
Summary of application of mTOR inhibitors to signs and symptoms of Tuberous Sclerosis Complex in Australia and New Zealand
Sign or symptom
of TSC
Approved for use in
Australia by the TGA
Funded for use in
Australia (PBS)
Approved for use
in New Zealand by
Medsafe
Funded for use
in New Zealand
(Pharmac)
SEGA brain tumour Yes Yes Yes Yes
Kidney
amgiomyolipomas
(AMLs)
Yes Yes Yes No
LAM No No No No
Facial angiofibromas No No No For specific patients
Epilepsy, cognition
and autism
No No No No
This is a shortened version of this article. The longer version can be found on the Tuberous Sclerosis Australia website: www.tsa.org.au
The information in this article has been reviewed by medical specialists.
15

Information
TSC Research
Community
Sets Sights On
Prevention
Murray Leikis (Tuberous Sclerosis Complex New Zealand) and
Clare Stuart (Tuberous Sclerosis Australia)
Clare Stuart
A report from the 2015 International TSC Research Conference in Windsor, United Kingdom, 10-12 September. From Treatment to Prevention,
the global TSC research community asks if postponing the complications of TSC indefinitely is the path to a cure for TSC.
The incredible progress of TSC
research continues, enabled by a passionate
and dedicated global community
of patients, families, TSC organisations,
scientists and clinicians. The research
presented at the meeting was diverse,
ranging from genetics, molecular signalling,
clinical trials, and patient and family
experiences, reflecting the strength of
the research in TSC. This makes it very
challenging to write a short summary of
a three-day conference with 33 talks, 58
research posters and over 200 delegates
from 31 countries.
A major theme of the conference
was prevention. A working group
called TSCure has been assembled to
design a series of collaborative clinical
trials examining whether existing TSC
treatments (including Vigabatrin and
mTOR inhibitor medicines) could
be used before clinical signs of TSC
develop. An example of this is use of the
recommended medicine (Vigabatrin)
for infantile spasms in TSC before
infantile spasms even start. This strategy
is currently being researched in a trial
called EPISTOP, which is examining
whether this is effective at reducing
the risk of intellectual disability and
autism in children. Another example
is whether early use of mTOR inhibitor
medicines could slow or prevent the
growth of angiomyolipomas (AMLs)
in the kidneys or the development of
lymphangiolyomyomatosis (LAM).
This approach will be enabled by
both early diagnosis of children born
with TSC and improved ability to predict
the risk of an individual child developing
particular symptoms of TSC. These
‘risk predictors’ are called biomarkers
and can include results of blood tests,
developmental assessments, EEGs and
radiological imaging.
Australia is pleased to be already
involved in these studies. David Mowat
from Sydney Children’s Hospital is a
member of the TSCure working group,
and Kate Riney from Lady Cilento
Children’s Hospital in Brisbane is one of
the investigators in the EPISTOP trial.
You can find out more about prevention
for TSC at the National Tuberous Sclerosis
Family and Medical Conference in Sydney
in November.
Basic science research is the starting
place for all research developments
and there were many talks and posters
presenting new findings about how TSC
cells grow, how they use energy, and which
chemicals can change these processes.
There have also been further gains in our
understanding of the mTOR pathway and
the signals up and downstream of it. One
project has made the links between these
and the pathway that determines skin
pigmentation, explaining the mechanism
behind hypomelatonic macules (white
spots) in the skin of people with TSC.
These basic science discoveries are the
foundation of the next breakthrough in
TSC and many potential targets for new
therapies were presented.
Other research presented has
improved our understanding of the social,
financial and psychological impact of
TSC on the people affected, and also the
significant gaps in our knowledge of this
area. There was interest in the project
being funded by Tuberous Sclerosis
Australia into the out of pocket costs
experienced by families with a child with
TSC. The TS2000 project is improving
our understanding of how infants and
young children with TSC develop and
understanding more about the factors that
can predict autism, ADHD and cognitive
impairment. Ensuring that the purpose
of the research isn’t forgotten, there were
four wonderful talks from patients and
families about their journeys with TSC.
The original gene discoveries that
unlocked the secrets of TSC and started
this era of significant progress were made
in the United Kingdom. It was fitting that
this next wave of research was initiated
at a meeting in the same place. The hard
work of the staff and volunteers at the
Tuberous Sclerosis Association (UK) and
the Tuberous Sclerosis Alliance (USA)
made this conference possible. You can
read more about this research conference
at www.tsa.org.au/category/research
The conference booklet, including
abstracts of the presentations can be
viewed at www.issuu.com/uktsa/docs/
tsa_conference_book_master_for_web_
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OCTOBER 2015 ISSUE 102

Information
TSC International Meeting Shares Strategies for Improving
Health Care for People with TSC Around the World
The Tuberous Sclerosis Complex International (TSCi)
meeting in Windsor, United Kingdom, brought together
TSC organisations from 22 countries to share knowledge and
ideas, and to plan for future TSCi activities. The meeting
welcomed representatives from Belgium, Brazil, Mexico,
Russia, Slovakia and Switzerland for the first time.
Clare Stuart from Tuberous Sclerosis Australia and Murray
Leikis from Tuberous Sclerosis Complex New Zealand attended
the meeting. Clare is co-chair of TSCi, along with Katie Smith
from TS Alliance (USA). The key panel discussion included
input from doctors and TSC organisations to understand
how we can work together towards more co-ordinated multidisciplinary
team based care for people with TSC. Plans were
also made for Global Awareness Day in 2016, and strategies for
raising public awareness and fundraising were shared.
TSC International Meeting attendees
Meet the Researcher
Dr Charlotte Tye, King’s College London, Institute of Psychiatry, Psychology & Neuroscience
Charlotte Tye
Charlotte is a postdoctoral research fellow supported by a
Junior Fellowship award from the UK Tuberous Sclerosis
Association. She has a particular interest in how learning difficulties
and developmental disorders in TSC can be predicted.
Charlotte has worked on the TS 2000 Study, a longitudinal study
of all individuals aged between birth and 16 years of age diagnosed
with TSC between 2001 and 2005. This study has been
important in identifying certain risks (e.g. epilepsy) associated
with developmental outcome (e.g. intellectual disability).
Charlotte’s current work is a new study, investigating early
development in Tuberous Sclerosis Complex (the EDiTS study).
TSC is associated with variable outcomes in later childhood,
including problems in social communication (e.g. autism),
attention (e.g. ADHD) and cognitive ability (e.g. intellectual
disability). Little is known about how development in TSC
changes in the early years, and how the behavioural and
cognitive problems are influenced by certain factors, such
as epilepsy, very early in life. This is because previous work
has asked parents to try to recall what their child was like in
the first two years, and also because the tests used were not
sensitive enough to these changes. The suggestion that new
treatments can be given to babies with TSC also highlights
the need for a tailored procedure to systematically chart their
development. In this study, funded by a Junior Fellowship
award from the UK Tuberous Sclerosis Association, Charlotte
is aiming to design and test a home and lab-based procedure in
babies with TSC from 0-24 months of age, and to compare their
developmental trajectories with those of typically developing
babies. The test battery will include novel and sensitive stateof-the-art
“eye-tracking” tests that can be administered both
in the research laboratory or clinic and at home. These tests are
able to provide more information about social and attentional
problems in TSC, even before the baby is able to respond to
experimental tasks or speak. The results from this study will
provide an understanding of how babies with TSC develop,
which factors are linked to behavioural outcomes, and the
effects of treatment very early in life.
Charlotte is one of the speakers at the Australian TSC
Conference on 14 and 15 November and would be happy to
meet families and discuss her work. You can read more about
Charlotte and her projects at www.tsa.org.au.
17

Fundraising
Thank You To Our
Fundraisers
TSC Heroes in Sydney and Brisbane
Sydney put on a beautiful day for the City2Surf on Sunday,
9 August. Well done to Belinda and Darren for forming
the TSC Heroes team this year who raised over $3,000
to help families living with Tuberous Sclerosis Complex.
They completed the race to honour Darren’s wife and
Belinda’s sister Maryanne, who recently passed away due to
complications related to her TSC.
Isabella ran in the Bridge to Brisbane on Sunday, 30 August,
raising over $200.
Isabella said, “Having been born with TSC, this charity is
extremely important to me. I was born with only a mild form
of TSC; however, there have been struggles that I have had to
deal with at times in my life as a result, including symptoms
affecting my brain, skin, and kidneys. There are people who have
to deal with much worse symptoms than I have, including severe
intellectual disability, epilepsy, and autism.
“I really want to make a difference and donate to this charity
and improve the lives of others who are badly affected, and to
continue research into treatments and further understanding of
the cause for this genetic disorder.”
Kids’ Disco Supports Mila
Natalie held a kids’ disco in Sydney in August in honour of Mila,
who has TSC. The event raised over $400. Thank you to the team
involved in this fun event.
Second Lizzie’s Lunch Raises over $11,000
This event is held in honour of Elizabeth Pinkerton, who lived
with TSC and inspired the involvement of the Pinkerton family
in TSA for many years. Through the generosity of the attendees
and the supporting businesses $11,000 was raised this year and
the event has now raised a total over $21,000. Thank you to
everyone involved and we look forward to the 2016 event.
Belinda & Darren
Could You Double Your Donation Through Matching
Gifts?
Matching gifts is when employers match charitable giving of
employees, retirees, and often their spouses. The match is often
1:1 or 2:1, meaning your $100 donation can easily become $200 or
even $300 to help people affected by TSC.
Rules vary between employers with some focusing on
fundraising efforts and many having minimum and maximum
amounts that they will match.
Do you know if your employer has a matching gifts program?
Find out this week and get in touch with TSA to see how we can
double your donation.
Thank you to the Macquarie Foundation for matching gifts for
some recent donations and the fundraising efforts of the Madden
and Allchin families.
18
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OCTOBER 2015 ISSUE 102

Fundraising
Thank You to Our Supporters
TSC Champions who
donate monthly
Peter Abery
Aunty Ivy’s Ironing & Laundry
Service
Andrew Goldstiver
Sally Nicholson and Elliot Cunnew
Jennifer O’Donoghue
Rob Pinkerton
Anne Vella
Steve Walker
Gold Members
Libby Adams
R Barassi
Leisel Bell
Dawn Bowra
Piret Braine
J Bromhead
Ray Bryant
Adish Chandra
Christine Chigioni
Peter Clisdell
Michael Cochran
Katina Core
Anthony Crosby
Joanne Crosby
Gail Cummins
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Joy English
Lloyd English
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Peter Hennings
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Berice Hopwood
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Lisa Liebman
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P Mercer
Jill Mustard
Gold Members
Kevin Niklaus
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Catherine Panich
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Steve Penniment
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Cassie L Russell
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Ibin Varughese
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Sue Williamson
Nambucca Valley Disability
Services Inc
Silver Members
Shirley Aisbett
Andrew Boakes
Miss Sarah Brice
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Leanne Lucy
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David Meredith
Rebecca Mitchell
Paula Morgan
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Joelle Neville
Russell Phillips
David and Marianne Somerville
The Disability Trust
E Warde
Mal Whatmore
Kay Woodcock
Bronze Members
Frederick Alexander
D Bartels
Leslie Bishop
Monica Bonacci
C Boulter
Sandra Capper
Jodie Conduit
Les Cope
Pat Crocker
T Curtis
Chris Doyle
R & J Drury
Pam Edgell
Kyrstie Ellwood
Epilepsy Foundation
Peta Guerin
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Marie Hell
Olive Hill
Gloria Hoffmann
Activ Library
K Hopwood
Margaret Horn
Eileen Jerga
Gary Lee
Wayne Lord
Dr Frank Martin
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May Mills
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Rebecca Paget
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Monika Pietrzak
Janiffer Reynolds
Nathan Reynolds
Gayle Rockstroh
Janet Sharp
Graeme Shaughnessy
Juliana Simpson
Tracy Simpson
Clare Stuart
Geoff Tugby
Helen Willacy
Mrs. Valerie Woodyatt
Noah’s Ark Centre of Shoalhaven
Inc.
Donations
Janet Norris’ Birthday
Maryanne Brooks
Evelyn Jacob
Kevin James
Alan Malsher
David Upton
Lizzie’s Lunch
Janis Daley
Maryanne Griffin
Claresta Hartley
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Vanda O’Donnell
Frances O’Keife
Paul Pinkerton
Jane Russell
Patricia Small
Allan Stuart
Joan Wharton
IBM Alumni Luncheon
Kate Norris
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General Donations
J Bromhead
Sandra Capper
Carol Crawford
Joanne Crosby
Gail Cummins
Hugh Figgis
Mary Anne Hartley
Lalor Park Waratah Slimmers Inc
Jeff Lee
Lisa Liebman
Macquarie Group Foundation Ltd
Jill Mustard
Fleur Myers
Len Norman
Elaine O’Dea
Catherine Panich
Jen Scarra
Samantha Stone
John Wilson
Calendar of events
24 October 2015 TSA Committee Meeting
14-15 November 2015 National TSC Medical and Family Conference, Sydney
14 November 2015 Annual General Meeting, Sydney
6 February 2016 TSA Committee Meeting
19

2015 Australian Tuberous Sclerosis
FAMILY & MEDICAL CONFERENCE
UNIVERSITY OF NEW SOUTH WALES, SYDNEY
FAMILY STREAM
14TH & 15TH
NOVEMBER
MEDICAL STREAM
14TH
NOVEMBER
FAMILY STREAM PROGRAM HIGHLIGHTS
Saturday
The Genetics of TSC - Dr Chirag Patel, Brisbane
From Treatment to Prevention - Dr David Mowat, Sydney
Understanding TSC Associated Neuropsychiatric Disorders (TAND) - Dr Vanessa Sarkozy, Sydney; Drs Charlotte Tye
and Patrick Bolton, United Kingdom; Dr Bill Papakostas and Nadine Rose, Sydney; Dr Lisa Underwood, New Zealand
Emerging Treatments for the Skin Signs of TSC - Dr Anne Halbert, Perth
Sunday
Research Directions in TSC and LAM - Dr Lisa Henske, USA
Managing the Kidney Signs of TSC and LAM - Dr Nikky Isbel, Brisbane
Managing Epilepsy in the Era of mTOR Inhibitors - Dr Elizabeth Thiele, USA; Dr Kate Riney, Brisbane;
Dr John Lawson, Sydney
The Less Common Signs of TSC - Dr Elizabeth Thiele, USA
Stronger TSC Organisations to Improve the Lives of People Affected by TSC - Clare Stuart and Debbie Crosby, TSA
Limited travel funding will be available for individuals with TSC and their families.
For further information and to register go to www.tsa.org.au/2015-conf