OCTOBER 2018 ISSUE 108
President’s Report................................................................................. 4
Dr Orli Wargon receives
2018 Elizabeth Pinkerton Memorial Award...................................... 5
TSC World Conference ....................................................................... 6
Improving our Understanding of TAND.......................................... 7
Celebrations – What We Do For Fun................................................. 8
Our transition stories..........................................................................10
Transitioning patients with tuberous sclerosis complex
from paediatric to adult health care..................................................16
Tips for working with your GP..........................................................19
Research News.................................................................................... 20
Our cover image is young Harrison from the Hunter region of NSW. Thank you to Megan and Sam for
sharing this photo of your beautiful boy.
Tuberous Sclerosis Complex (TSC) affects more than 2000
individuals in Australia and thousands more carers, families and
friends who live with the impact of the disease.
TSC tumours can grow in any organ of the body, commonly affecting
the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy,
developmental delay and autism. There is no known cure for TSC, but
with appropriate support most people with TSC can live fulfilling lives.
Tuberous Sclerosis Australia
Works to connect, inform and empower people affected by tuberous
sclerosis complex as we work towards a cure for TSC.
TSA was established in 1981 as a volunteer organisation to connect families
living with TSC. We have hundreds of members including people with TSC and
their families along with health, education and caring professionals.
1. Ensure Australians with TSC have access to the best possible healthcare
2. Provide up to date and accurate information to all Australians with TSC
3. Support individuals and families affected by so no one has to face the
challenges of TSC alone
4. Champion an active research program in Australia that works towards
a cure for TSC
President Debbie Crosby
Vice President Michelle Purkiss
Treasurer Patrick Norris
Secretary Alison McIvor
Public Officer Debbie Crosby
Medical Advisory Board Dr David Mowat,
Dr John Lawson,
Dr Sean Kennedy
The TSC Information Service
Visit our website for extensive information about TSC for individuals, their families and
Call or email us to speak to one of our volunteers. We have regional contacts throughout Australia
who can meet face to face and connect you with local services
1300 733 435 firstname.lastname@example.org
Not in Australia or New Zealand?
TSA is a founding member of Tuberous Sclerosis Complex International,
a worldwide association of TSC organisations. The TSCi website
contains a directory of TSC organisations around the world
OCTOBER 2018 ISSUE 108
This edition of Reach Out highlights
transitions. According to the Macquarie
dictionary, transition (noun) is the passage
from one position, state, stage etc. to
another. To transition (verb) is to move
someone in a gradual or planned way
from one role, position or stage of life to
another. Transitions are a normal part
of life and we are each likely to face many
transitions or changes in our life.
I look back at some of my own transitions.
Some of these went smoothly such as when
I married my husband – I found being engaged
was such an in-between time. Others were extremely
challenging and resulted in lots of tears along the way such as
my transition to becoming what I consider to be a good teacher
which I think took about three years! As parents we try to help
our children cope with changes but it can be more daunting if
you are in the midst of your own transition and trying to cope
with your own challenges. This is what it was like when we
moved back to Sydney after living in Tasmania for eight years.
That was a big move for all of us.
I think most of us remember what it was like to be a
teenager and the angst we went through on that journey to
adulthood. But how much more challenging is that transition
for a young person with TSC? Leah shares two transitions in
her life - when she was a teenager wanting to understand who
she was and later when she had medical complications of TSC.
She shares the things that were difficult and the things that
helped. “Something that helped me was understanding where
the TSC lesions were in my brain. When I understood that
these … were stopping those parts of the brain working well
I was less hard on myself for struggling with these skills.” See
Leah’s article on p.14.
Debbie, TSA president, finds “… speaking to others who
have gone through the same thing or reading a personal story
… very helpful, and the advice helps you feel like you are not
the only one going through these challenges.” See Debbie’s
president’s report on p.4. We have two parents who share
stories of their son or daughter’s transition to adulthood.
Selina describes her son Liam’s transition and their
multi-faceted approach to Liam’s health and
wellbeing. “Living away from us has been
the making of Liam.” See Selina’s article
on p.10. Sally shares three periods of
transition for her daughter Amelia - from
primary to secondary school, Years 11 and
12 and transition to post school. Having
the right staff can make all the difference
to how well our children settle into their
new environments and parents need to be
comfortable that their children are getting the
right level of support. See Sally’s article on p.12.
We also have Dr Brittany Hulbert’s article on
Transitioning patients with tuberous sclerosis complex from
paediatric to adult health care. Brittany says that “early,
ongoing and structured preparation is the key to a successful
transition.” See Brittany’s article on p.17.
Debbie also asks us to remember that “transition can be
positive as it may lead to a new opportunity or turn out better
than we thought it would.”
We also have all our regular features. In Celebrations on
p.8 we celebrate what we do for fun. Clare gives us the latest
research on TSC on p.21 - the success of the international
topical rapamycin clinical trial, more on Australian research
into TSC and autism and a study which suggests that mTOR
inhibitor medicines are safe in younger children with TSC.
Kate takes us through a fundraising snapshot of the last
six months on pp.22-23. We’re excited to have launched the
first Australian Comedy for a Cure event with the help of our
dedicated volunteer committee
We thank everyone who has contributed stories or photos
for this edition of Reach Out, and those who fundraise for the
work of TSA. Your stories and efforts inspire and inform others
who live with TSC, as well as health professionals and the
Reach Out Official Journal of Tuberous Sclerosis
18 Central Rd, Beverly Hills NSW 2209
Telephone: 1300 733 435
ABN 20 681 174 734
Incorporation no. Y 07116-42
Registered Charity CC25313
Reach Out Editor: Teresa Llewellyn-Evans
The opinions expressed in this journal are those of the
authors and are not official pronouncements of TSA Inc.
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
Debbie Crosby, President
The theme of this publication of Reach
Out is transition and at every stage
of a person’s life there will be a time of
transition or change. The definition of
transition is the process or a period of
changing from one state or condition to
another. Sounds easy enough, however,
for people living with TSC who may
have special needs or complex health
issues, a time of transition may be more
challenging or difficult to navigate.
I have spoken to many parents who
have gone through the transition from
primary or high school, changing to an
adult health setting or even a transition
to a new therapist or service. Recently the
transition to NDIS has been challenging
for many of us. For parents or the
individuals involved, a time of transition
can be very daunting at the beginning as
they may be unsure of how to even start
the transition, or feel that their options
Personally, I find speaking to others
who have gone through the same thing
or reading a personal story is very
helpful, and the advice helps you feel
like you are not the only one going
through these challenges. We also need
to remember that a time of transition
can also be positive as it may lead to
a new opportunity or turn out better
than we thought it would. I would like
to thank everyone who contributed
their stories as they will help so many
of us, and we can learn so much. Your
advice and experiences will help so
many people as they go through
Your advice and
experiences will help so
many people as they
go through similar
Our organisation has also had a time
of transition in the past 18 months as
we plan for the future. Our staff and
committee are always working to ensure
our organisation can grow to support the
important projects and research which
will ultimately help people living with
TSC. A constant challenge is to ensure
we have the funds, not only to run the
organisation and the information and
support service, but to also support new
projects and vital research. I would like
to thank the amazing TSC community
who have helped us to fundraise in the
past year, and we look forward to making
new connections with others who would
like to help TSA.
It was great to see so many people
attending the education events that
were held in Adelaide, Brisbane and
Sydney in September. We were very
lucky to have Professor Petrus de Vries,
who is an amazing clinician, researcher
and speaker, present the latest
information and research on TAND
- TSC Associated Neuropsychiatric
Disorders. I know many families were
able to understand more about TAND
and gain some answers to the many
questions they had.
At the Sydney event we took
the opportunity to have our Annual
General Meeting and the committee
also held a planning day to review the
strategic plan. I would like to thank
our General Manager Clare Stuart for
organising and running the education
events, and the committee for their
time and their ongoing commitment
OCTOBER 2018 ISSUE 108
Dr Orli Wargon receives 2018
Elizabeth Pinkerton Memorial Award
Dr Orli Wargon, a paediatric dermatologist at Sydney
Children’s Hospital, is the recipient of the 2018 Elizabeth
Pinkerton Memorial Award. This award is given annually by
Tuberous Sclerosis Australia (TSA) to a health professional in
recognition of their efforts to improve the lives of families living
with TSC in Australia. Dr Wargon is the eighth recipient of
this award and joins three others from the TSC clinic at Sydney
In the last few years Dr Wargon has been particularly
focussed on TSC as a part of the Treatment trial investigating the
effectiveness of topical rapamycin to treat facial angiofibromas.
Several members of the Australian TSC Community
nominated Dr Wargon for this award, including Kate Norris,
mum to Liam who has TSC:
“We’ve been in Orli Wargon’s good care since our son Liam
was a baby nearly ten years ago. Participating in Orli’s fantastically
well-run rapamycin trial was a privilege. Liam has continued to
use his ‘magic cream’ since then and his face is looking so clear.
Thank you Dr Wargon, for being at the forefront of research that’s
benefitting people with TSC in such a direct way.”
Debbie Crosby, president of TSA and Mum to Alana who
has TSC, adds:
“We are very lucky to have Orli as our dermatologist for our
daughter Alana. Orli is so knowledgeable, caring and always
explains things so well. Her leading role in the rapamycin
cream trial has helped so many families and has such a positive
impact in the lives of people living with TSC in Australia.”
We presented the award to Dr Wargon, who responded:
“I have been working with TSA for a couple of decades.
I am really honoured that you have given me this award. I
thoroughly enjoy the TSC Clinic and watching all the children
grow into adulthood. Thank you very much.”
like to make
a nomination for
the 2019 Elizabeth
Award, please visit
Dr Orli Wargon and Clare Stuart
held in Dallas in July
Daniel Price from
Washington state, US
The TSC World Conference is held every four years by the
Tuberous Sclerosis Alliance (USA). Clare Stuart, TSA’s
General Manager, travelled to this meeting as a part of her role
with Tuberous Sclerosis Complex International (TSCi) and to
learn from TSC experts from around the world. The size of this
event is incredible, with over 900 people from over 20 countries
joining together in Dallas, Texas. Clare chaired the TSCi meeting
and also moderated a workshop on improving access to TSC
medicines around the world.
Streams covered in the conference included paediatrics,
transitions and adults, and topics ran the full spectrum of
challenges that TSC causes. The majority of sessions were video
recorded and you can watch these videos at:
Thank you to the Tuberous Sclerosis Alliance team and all the
sponsors of the conference for making this valuable information
resource available to the global TSC community. TSA will be
sharing specific videos on our social media pages over the next
few months. If you would like help to identify the sessions that can
help you the most, please contact our TSC information service by
calling 1300 733 435 or emailing email@example.com
Clare (2nd from right)
with TSCi members from
Wave tattoos are
taking off worldwide
OCTOBER 2018 ISSUE 108
Understanding of TAND
TAND stands for tuberous sclerosis associated neuropsychiatric
disorders and includes many aspects of TSC that
impact most on a person’s daily life including behaviour, autism,
difficulties with attention, anxiety and brain skills.
Throughout August and September Professor Petrus de Vries
from the University of Cape Town, improved the knowledge of
health professionals and people living with TSC in Australia.
Events for health professionals have included grand rounds
at Sydney Children’s Hospital attended by 80 paediatricians,
the meeting of the Society for the Study of Behavioural
Phenotypes in Melbourne attended by over 400 developmental
paediatricians, along with smaller meetings with groups of
clinicians and researchers in Melbourne, Sydney and Brisbane.
TSA’s Understanding TAND educational events have taken
place in Adelaide, Brisbane and Sydney and involved local
health professionals as well as Professor de Vries connecting
with the TSC community and learning more about TAND
screening, diagnosis and management.
Based on the discussions in these meetings, TSA will be
improving our existing resources to help people living with
TAND and also help health professionals to support their
TSC patients with the many challenges that TAND has
on their lives.
Thank you to Professor de Vries for donating so much of his
time, expertise and energy to these events and to TSA’s donors and
fundraisers for their support to make these events possible.
Participants at our Understanding TAND event in Brisbane
What we do for fun
Brad has been playing Try Time with Quakers Hill Destroyers for the past
three years. It’s football for kids and adults with disabilities. Each Sunday
the team does training drills and then plays a game of touch football
against each other and a few parents and helpers. This year Brad has been
able to stay on the field without his dad with him, which is a massive
achievement for him. While he doesn’t like getting in the middle of the
game he loves to still be out on the field and being a part of the team.
Way to go Brad! Hayley, NSW
I had a proud mama moment earlier this year. Tyler, aged 15, who has
TSC, achieved his black belt in taekwondo after joining in June 2016.
This is such an achievement to gain his black belt in less than two
years! This is an achievement only one in one thousand people achieve.
Taylah attends pony club monthly and has two different horses she
takes out. She rides in gymkhanas and has won lots of ribbons in
jumping, novelties and dressage. She just has so much love for her
horses and they love her back.
OCTOBER 2018 ISSUE 108
Oliver loves spending plenty of time being active. Just some of
his after school activities include swimming with his best buddy
Tegan, riding Eddy out on the trails with Riding for the Disabled
and hanging around on the cargo net at Obstacle Course class.
The joy all these bring to us and to Oliver is immeasurable and the
skills he is learning are just as important. Jeremy, NSW
This is Lily enjoying a netball tournament with the South West
Stingers. We have training every Monday night and then three or four
tournaments around the district to compete in from June to October.
It is just so lovely to see people of all abilities given the opportunity to
participate in any kind of sport or activity. You can see how much Lily
loves being a part of a team! Huge thanks to Marg and Val for all their
efforts in coaching the team. Narelle, VIC
Aaron, who has TSC, PKD, epilepsy and kidney AMLs, has been playing squash
since mid-2015. It’s sun safe, great for fitness and the local owners are fantastic
with the junior players. Aaron had a little anxiety and I found that with him
playing in all the squash tournaments we could go to, it has helped him learn to
deal with those emotions and it has taught him resilience and sportsmanship.
He plays against juniors and adults and soon he’ll be beating me - I couldn’t be
happier when that happens. Ray, QLD
Want to share your achievements with the TSC community? Email firstname.lastname@example.org with your celebrations.
Our transition stories
In each issue of Reach Out we ask the tuberous sclerosis complex (TSC)
community to share their experiences with an aspect of life with TSC.
In this issue we’ve asked people to share their stories about transitions.
By Selina, Liam’s mum
Ah, transitions! Don’t we parents of children with differing
abilities just love transitions! After 23 years of managing
transitions on a daily basis, I’m amazed we’re not better at them.
In fact, when I was asked to write this article, I hesitated. We have
stuffed up transitions so often, you see. But I was assured that a
personal story of our adventures with our 23 year old son Liam
would be well received, so I resolved to put fingers to keyboard. At
the very least I could help other parents know what NOT to do.
For starters, we botched Liam’s transition from school to
day support program. The school thought we were managing
the process and we thought the school was doing it. So that
was a wonderful example of a communication breakdown!
The net result was that Liam graduated and we had absolutely
One of the biggest challenges
in our son’s approach to adulthood
was his aggression and we went
through several years of violent
nothing lined up for him to go to.
Fortunately, we are great in a crisis, and by January we
had a day support provider lined up. This was to be the first
of four day support providers we went through before finding
the right fit for Liam.
Of course, this rush job was not ideal and stressed Liam
out no end. He was already displaying TAND* behaviours and
these escalated at that time, unsurprisingly. A process that
should have taken a year was condensed into weeks, with a
predictably chaotic result.
One of the biggest challenges in our son’s approach to
adulthood was his aggression and we went through several years
of violent challenging behaviour. I’ve talked about this at length
in my blog and I am pleased to say things have settled down
nicely, and I now do a lot of volunteer work raising awareness
about family violence and the effect on siblings.
For Liam it was a confusing and stressful time, with a lot of
conflict going on in our home. We were poorly supported with
services and had nowhere near enough respite as providers were
reluctant to take him on. Neurosurgery to remove a dysplastic
right frontal pole tuber in 2013 made a huge difference to
behaviour and we all breathed a sigh of relief. The process of
maturing also brought an improvement, with negotiation skills
and impulse control really developing. It’s not all plain sailing,
but each week Liam comes home with new accomplishments and
a bit more self-mastery, which is so heartening.
We were very fortunate in transitioning from the paediatric
system to an adult service. In Tasmania we have the SHAID
clinic which is a special health care for adults with an intellectual
disability clinic. This is basically a paediatrician for adults with
complex disabilities. Liam’s medical care is coordinated by his
clinician, Professor Robyn Wallace, but she cannot order tests
in the major public hospital. Our neurologist does most of that.
When Liam needs a general anaesthetic, our neurologist is the
best person to coordinate the army of specialists who usually take
the opportunity to get in and take a look at his teeth, eyes and
kidneys. We even take blood and have been known to do flu shots
although Liam will now tolerate having these from his GP.
It will be very interesting to experience the adult system when
it comes to neurosurgery, which we will hopefully be doing later
this year. Liam’s seizures are not responding well to medication
OCTOBER 2018 ISSUE 108
and we are at the end of the road. A referral to the Austin in
Melbourne has been put in place so we are back for neurosurgery.
The joys! I certainly have mixed feelings, but with the technology
improving so much, it really is the best chance we have of helping
Liam. He has grown so much that I am confident he will amaze
us all with his bravery.
When thinking about Liam’s health and wellbeing, we have
evolved a multi-faceted approach. Our main focus areas are
exercise, diet, music, sexual health, relaxation and good decisions.
Movement is crucial to Liam’s wellbeing. He is a very energetic
young man and we plan activities daily to ensure he gets
hard exercise. This includes bushwalking, swimming (he
does exercise physiology in the pool which is funded through
his NDIS package), treadmill, weights, boxing, trampette
and dancing (anything from ABBA to Skrillex – he’s pretty
We aim for fresh food cooked from scratch, loads of fibre and
plenty of protein and full fat dairy (Liam struggles to gain weight).
We try to restrict packaged food, but managing his Coca Cola
habit is a full time job!
Liam’s world is full of music. He adores his iPad and we can deescalate
most situations using his favourite music.
A current focus of ours is to teach Liam to masturbate safely
and successfully. He has been able to complete once or twice
but lacks the technique for success, so we are working on
this. Again, I refer you to my blog where I explore the issue
humorously and quite frankly – don’t say I didn’t warn you!
We are hoping this will help settle behaviour even further.
model these behaviours ourselves and we are not perfect. Our
team of carers are still wondering where he picked up the word
‘dickhead’ but there are worse words!
We always had a vision that Liam would move out of the
family home once he was an adult. During the tough years of
his adolescence, this goal was important so we could give the
younger boys a break for their most important school years.
Living away from us has been the making of Liam. His
NDIS package funding meant he was able to move first into
a private rental with another young man (not a huge success)
and most recently to an intentional community south of
Hobart, supported 24/7 by carers. This community consists
of mainly young people (ages 19-41) who engage in lots of
He has grown so much that I
am confident he will amaze us all with
social activities including cooking, music, parties and a
recently funded chook shed. Liam is cared for by a group of
(also mainly young) people with high energy and a variety of
interests. They bring colour and enthusiasm to his life and,
most importantly, they can go home and reenergise at the end
of their shift. They are not the exhausted parents with two
other children and full time jobs that we were.
It was hard for me to let go and I am probably still doing it, but
my son has his own life now and I’m absolutely thrilled for him.
Read more from Selina at happychinblog.wordpress.com
*Tuberous Sclerosis Associated Neuropsychiatric Disorders
By now, we are pretty good at detecting
when Liam is escalating and can redirect to the above
activities. We do offer the shower a lot as it’s really calming
for him (not so much for us when we get the power bill).
Massage is also something he enjoys, along with looking at
books and magazines.
Rather than use punitive language, we have chosen the phrase
‘good decisions’ and adopted a positive behaviour support
model for teaching the behaviour we expect from our son, now
that he is an adult. Of course, we recognise that we need to
By Sally, Amelia’s mum
My daughter, Amelia, has tuberous sclerosis complex (TSC)
and we live on the northern beaches of Sydney. The
primary impacts of TSC on Amelia are a moderate intellectual
disability, epilepsy, kidney angiomyolipomas and very early stage
The biggest challenges in her young years were seizure
control and behaviour issues. Seizures are relatively
well controlled now on three anti-epileptic
medications and an mTOR inhibitor,
and she no longer exhibits any
challenging behaviour. Amelia is
happy and content but happiest
when she is with her friends going
on peer outings or camps.
We have recently started
overnight respite after only
getting her out of our bedroom
this year (at 21). I honestly
thought this would never happen.
The overnight respite is going really well. The next big
transition will be to supported independent living within the
next five years.
When I reflect on the transitions Amelia has gone
through, I think that, often times, they turn out to be a lot
less stressful than you anticipate. There is a whole lot of worry
and anxiety going on that kids probably pick up on that isn’t
necessary. I’ve briefly described our experiences below.
Primary to high school
Although I was very anxious about this, Amelia coped really
well. This was particularly remarkable because, due to age
discrepancies with classmates in primary school, she didn’t
move up to high school with any of her friends.
The teacher’s aides at the school were lovely.
Unfortunately, the head of the IO unit (a class for students
with moderate intellectual disabilities) was dreadful. Shortly
after we started there, the head of the IO unit suggested
we move Amelia to a local special school. We didn’t and
questioned why she wasn’t fully across the abilities of all the
students before they commenced as we had provided IQ tests
and other reports. We escalated our concerns with this person
to the regional office of the Department of Education, a move
Amelia (middle) at a recent camp with two friends she made in primary school (left) and her favourite support worker (right).
OCTOBER 2018 ISSUE 108
I strongly recommend if you don’t feel things are right.
Amelia went on to make some great friends who she still
sees regularly. She thoroughly enjoyed her time there despite
being advised that the unit wasn’t suitable for her. She stayed
there for years 7-10. Whilst Amelia was happy there, I wasn’t
happy with the school.
Amelia with our ‘new’ dog. We’ve had her for two years now because
Amelia wanted another golden retriever after the first one died.
I didn’t - but she won.
Years 11-12 - Public senior school - Freshwater High
This was an absolutely brilliant experience. Thanks to a thoroughly
committed principal, teachers and aides and a really lovely learning
environment, Amelia and the friends she moved with from the
previous high school flourished at Freshwater. There was lots of
work experience and the school went above and beyond to help us
transition to post school options.
Understandably we were very anxious about this
transition. This was with good reason: it is a big
transition for the kids from a lovely safe nurturing
environment surrounded by wonderful teachers and
friends into something quite different.
We looked at several options and elected to go with a
transition to work program at the Cerebral Palsy Alliance
(CPA). They have a lovely architect designed campus with
all the ‘bells and whistles’. At the open day we were given
quite the ‘sales pitch’ about the program being modified to
suit the participant. Unfortunately the reality did not live up
to the sales pitch. I did have a little voice in my head that said
if it sounds too good to be true, it often is. For some reason I
ignored the little voice!
I think I can safely say that from Day 1, Amelia hated it.
We persevered as we knew this was a big transition and would
involve a settling in phase. Amelia’s behaviour deteriorated
and everything became extremely stressful. I reached the end
of my tether and insisted my husband Elliott drop her off one
day. He saw what I had been experiencing and said we had to
look at other options. So that’s how we found Northside, an
option we hadn’t considered before, even though it was local.
It couldn’t be further from the CPA model if it tried. It is
located in a tired building in an industrial part of Brookvale,
staffed with wonderful people and, thankfully, a few familiar
faces. Amelia settled in but it did take some time. She was
moody and difficult for the staff for some weeks but within
a month or so gradually came around. Now, over two years
later, she’s more than happy to attend every day and loves
everyone - staff and clients.
I tried to mix things up and introduce a few days at Fighting
Chance, a local social enterprise with a great reputation and
program that also employs a number of her friends. Amelia let
me know loudly and clearly she wanted to stay at Northside. So,
for the time being, she will stay where she is.
Parents know their own children best and will soon know
if they have made the wrong decision, as we did. Luckily, with
the NDIS, it’s easy to move providers whenever you want. You
need to be confident that your child is receiving the best care
and supervision and that their needs are being met.
Amelia and her ‘boyfriend’ Joel. Yes it’s love. Her heart beats only for Joel.
Written by Clare Stuart from an Interview
with Leah Bos
live in New Zealand and work in a café and have grown up
I with tuberous sclerosis complex (TSC). I was diagnosed with
TSC when I was one year old after I had a febrile convulsion and
the doctor noticed an ash leaf spot. I have gone through two
major transitions in my life: Firstly when I was a teenager and
wanting to understand who I was and later when I had medical
complications relating to my TSC.
In my teenage years it was the emotional impacts of TSC
that affected me most. The physical signs of TSC on my skin,
facial angiofibromas, appeared but it was the emotional
wounds of not knowing what these were all about combined
with the teasing from other children that had the biggest
impact. Going through puberty triggered an identity crisis.
I wanted to know ‘why me?’ Although I didn’t blame my
parents, I did feel quite alone.
It felt like TSC was taboo in my family. I think partly this was
because my Mum didn’t know how to explain it so I understood
it and without making me upset. Even my own brothers did not
know what TSC was. I was quite withdrawn and shy as a child
and it took a lot of time for me to trust people. I was trying to
figure out who I was and went through times when I believed that
TSC would not be there when I woke up. At school I struggled
with learning and ideas seemed to go in one ear and out the
other. This was something I really noticed in high school and I
was very frustrated with myself and felt inadequate.
High school was very focussed on getting qualifications and
moving onto university. I discovered that I was a visual person
and enjoyed art history and classical studies. I could remember
things so much better if there was a visual component. Science
and Maths did my head in and I just couldn’t decode the symbols
involved. I also struggled with focus and I got distracted easily.
I also struggled with multi-tasking such as writing and listening
at the same time. I have found this has changed over time and
later in my 20s I found I was better at these things and wonder
if perhaps I should have done high school later in life! I know
now that I can learn new things if they are repetitive and precise.
People can get frustrated with me if they are not precise when
they tell me something.
Something that helped me was understanding where the
TSC lesions were in my brain. When I understood that these
lesions were stopping those parts of the brain working well I
was less hard on myself for struggling with these skills. For
example, I know that I have TSC lesions in the part of my
brain that manages emotions. Certain emotions I couldn’t
allow myself to feel or I couldn’t empathise with others. Now
I have a reason for why I am like that, it is bittersweet. I know
it’s not just me; I am not doing this on purpose. But it also
brings back that I have TSC and the challenge I face in trying
to improve my life in spite of having TSC.
I had to do my own research and it was the Tuberous
Sclerosis Australia website where I first started to learn about
TSC. This helped me to explain TSC to other people.
In my late 20s my kidneys started bleeding. I was leaning
over something at work and I had a huge pain and it hurt even
more when I sat down. I knew something wasn’t right and I
went to hospital. I did not know that I had angiomyolipomas
(AMLs) in my kidneys. After multiple embolisations I knew
that these weren’t a long term solution. I knew something
had to change or I would lose my kidneys and I could die. I
went through a fight with the New Zealand government to
access an mTOR inhibitor medicine to treat my AMLs. I was
able to get a special authority to use this medicine to treat my
brain lesions and it is working on my kidneys as well. I have
relaxed a bit now that I am on this medicine and I have some
I knew something had to
change or I would lose my kidneys and
I could die.
As an adult with TSC, it is really hard to find a doctor who
wants to be a champion for you. I always wondered why we don’t
have a paediatrician after childhood. I had previously had four
different doctors, one for each part of my body. At first I was
under the care of a urologist because my first admission was
for my kidney bleed which required surgery. It took a while to
understand why my nephrologist should be involved.
My nephrologist is now helping me with all aspects of my
TSC and ordering tests relating to my brain, skin and helping me
access the medicine I need. He has played an important part in
my journey with TSC as an adult. I see him frequently, including
after each MRI of my kidneys. I have moved within New Zealand
to be closer to a better medical team for my kidneys.
I have tried to talk to psychiatrists and psychologists. I
struggled to relate to them as they had no idea of what TSC
was and just didn’t understand. When I come across a good
OCTOBER 2018 ISSUE 108
Janet Sharp, Helen Willacy and Leah at the launch of Tuberous Sclerosis Complex New Zealand in 2014
doctor who knows about TSC, they are more of a psychiatrist
to me even though that’s not what they’re trained in.
I still struggle with when to tell people about TSC, both
I do think if TSC was
normalised earlier in my life and I
had met other people with TSC, I
may not have felt so alone for so
long and had that feeling of being
a square peg in a round hole.
When I met other adults with TSC
through the internet and then face
to face it was total acceptance and
I felt at home.
new friends and also romantic relationships. When people
meet me in real life they can see that something is different on
my skin. If I tell them straight away, it is a lot for them to take
in and sometimes I never see them again.
Grief and trauma is something I live with every day. I
imagine it is similar to what a parent goes through after they
have a child with TSC or another disability. When I think
about TSC it brings back all the pain that TSC has caused me
and it’s like a companion you can’t let go of.
Being part of a support group was huge for me. It wasn’t
around when I was younger partly because I didn’t want to
confront TSC. I know every parent is different and some will
not want to overwhelm their child with TSC because they
themselves have been overwhelmed. I do think if TSC was
normalised earlier in my life and I had met other people with
TSC, I may not have felt so alone for so long and had that
feeling of being a square peg in a round hole. When I met
other adults with TSC through the internet and then face to
face it was total acceptance and I felt at home.
I know my Mum considered taking me to a meeting with
other people with TSC but she was concerned that, because
TSC had affected me mildly, this may have a negative impact
on those families who lived with worse effects of TSC. This
sort of opportunity would have been an important part of
figuring out my identity. I think parents of children with TSC
should not be held back by these fears and it will help both the
parents and the child with TSC to heal.
I recommend that young people with TSC do talk about it
and find people that are similar to you and can relate to you.
My other recommendations for young people with TSC are to
keep busy, work on your strengths, develop your interests and
hobbies, interact with people in whatever way you can and,
most of all, try not to let TSC consume you.
I am a warrior and a survivor and I do have to jump more
hurdles than an average person without a disability, but I have
proud moments when I achieve things in my life even if this
happens later than the average person.
I know I am more resilient because of what I have gone
through because of TSC. I have found strength in educating
others and telling my story to both medical professionals and
the wider community. I am proud of those moments.
Transitioning patients with
tuberous sclerosis complex from
paediatric to adult health care
Dr Brittany Hulbert
Thank you to Dr Hulbert for researching and writing this
article for us. Brittany is completing her internship in
Brisbane and also has a brother with TSC.
As a child with tuberous sclerosis complex (TSC) approaches
adolescence, their paediatrician needs to initiate a discussion
around their transition to adult care. A ‘transition’ is defined as
“the purposeful planned movement of adolescents and young
adults with a chronic physical and medical condition from child
centred to adult-oriented health care systems.” 1 This is an important
process which requires preparation, ideally commencing long before
the intended time of transition. There is no specific age at which
a patient must move to the adult health system. Ideally, it is an
individualised process based on the patient’s needs. However, most
paediatric clinics will plan for the transition to occur following the
completion of secondary school. 2
Ensuring a successful transition
The goal of a transition is to provide patients and families
uninterrupted, high quality care while also promoting the patient’s
sense of autonomy and wellbeing. 3
The most successful transitions are patient-centred and
individualised. Effective transition programs will include a
document that describes the patient’s individual needs and identifies
their level of understanding and independence with regards to their
Ideally, transitions are managed by one person or a team. Often
larger hospitals will have an appointed nurse or transition team. For
example, The Sydney Children’s Hospital Network has a transition
service called Trapeze that works with the patient to ensure they are
prepared to move to adult care, and the Royal Children’s Hospital in
Melbourne has a transition support service that functions similarly.
These teams carry out supportive roles and health coaching, as well
as coordinating the transfer of information between the specialists,
patients and their general practitioners.
Despite this general framework and knowledge of the purpose
of a transition, this period is often associated with deterioration in
the health of young people with chronic health conditions. 4 The
complexity of TSC makes the transition even more challenging.
Awareness of the issues around transition has grown, as
more and more children with chronic medical conditions
progress to adulthood. In some countries, adolescent health
has increasingly become recognised as a specialty within
paediatrics for this reason.
How management of TSC changes from early life
TSC causes signs and symptoms in many different parts of the body
that can vary depending on the patient’s age. 5 As a child with TSC
approaches adulthood, the focus of management often shifts from
seizure control to kidney health and psychiatric conditions. 6 The
complexity of TSC requires an understanding of the various TSCrelated
complications that can occur throughout life.
In the neonatal and early childhood period, the most
common signs and symptoms of TSC are cardiac rhabdomyomas,
retinal hamartomas in the eyes and tubers and subependymal
nodules in the brain. The prevalence of these can change with
time - cardiac rhabdomyomas often regress with age and
rarely cause symptoms, while retinal hamartomas can appear
at any age. 7 Seizures often begin in the neonatal period or in
childhood and, while they can be managed with anti-epileptic
medication or surgery, up to one third of patients with TSC
will have refractory seizures. 8 Poorly controlled epilepsy can
lead to an increased risk of developmental delay, cognitive and
neuropsychiatric disorders which have different implications
in different age groups. Intellectual disability occurs in about
50 percent of people with TSC, which can subsequently affect
the level of support needed in school and work as an individual
grows up. 9 Pulmonary lymphangioleiomyomatosis can develop
post puberty and will require monitoring.
TSC-associated neuropsychiatric disorders (TAND)
describe the behavioural, intellectual and neuropsychiatric
disorders that can emerge as a consequence of TSC. Symptoms
of TAND are often unique to the individual and can evolve
with age, requiring regular reassessments. 10 Symptoms
of autism spectrum disorder and attention deficit and
hyperactivity disorder can be difficult to manage, and can
affect an individual’s ability to participate in school activities
Regular follow up is important in the paediatric population,
as the physical manifestations of TSC vary with the patient’s
age. Renal angiomyolipomas and skin and nail lesions often
emerge in childhood as well but can grow with time, whereas new
subependymal giant cell astrocytomas in the brain become less
likely once one reaches adulthood. Surveillance of these lesions
is recommended every one to three years in children, however,
screening with MRIs of the brain is not typically continued past
age 25. 11 While children are under the care of their parents and
a paediatrician who has potentially been with them since birth
and provided comfortable and regular follow up, transitioning
to adult care may increase the likelihood that these follow up
consults are lost.
Adolescent medicine, TSC and navigating
adult health systems
It is important to be aware that, although the focus of health
professionals is often on the various ways TSC affects a person, the
patient being seen is also an adolescent becoming a young adult.
Understanding the ‘developmental tasks’ of adolescents is vital to the
delivery of appropriate health care. These tasks include development
OCTOBER 2018 ISSUE 108
Personal Information Stories
of identity separate from their parents, determining the level of
independence from parents, forming deeper relationships with
peers, developing a system of values, increasing cognitive and social
skills and establishing skills for intimate relationships. 12
Medical conditions such as TSC, previously thought to be
primarily of paediatric concern are increasingly entering into the
realm of adult physicians, who may have less experience treating
these conditions than their paediatric colleagues. Evidence from
adolescent patients with other chronic medical conditions tells us
that loss to follow up and poor health outcomes are common. Adult
care is often more fragmented and less holistic than paediatric care,
and this can be a source of concern for people with TSC and their
parents. Parents are often worried that adult physicians may know
less about TSC than their child’s paediatrician, and that they also
tended to focus less on the patient’s psychosocial issues. 13 With high
rates (45%) of psychological distress found in people with TSC, this
is an important aspect of the condition to be addressed regularly. 14
The logistics of seeing several different adult specialists can be
difficult to navigate. Some children’s hospitals have TSC clinics where
patients can see a variety of specialists and allied health professionals
on the one day, facilitating a multidisciplinary approach to care.
More often these arrangements simply do not exist in adult hospitals,
which then requires the patient to visit specialists individually and
potentially on separate days, increasing the risk of loss to follow up. At
At the same time parents
are also adjusting their approach to
caring for their child who, as a young
adult, may wish for more autonomy
and self-sufficiency in their care.
the same time parents are also adjusting their approach to caring for
their child who, as a young adult, may wish for more autonomy and
self-sufficiency in their care. Although ‘guided self-management’ on
the patient’s part is an important part of a successful transition, this is
not always possible with TSC due to the varied ability to self-manage
and function independently from parents or caregivers.
Preparing for a transition to adulthood and
Early, ongoing and structured preparation is the key to a successful
transition. Discussions around this should ideally begin in early
adolescence and continue at regular intervals. Transitioning should
be seen as a normal part of an adolescent’s overall health care plan.
It should be prioritised in a person-centred manner based on what
is important to the patient. 15 Referrals to adult physicians should be
done well before the intended date of the appointment, as waiting
lists can be long - up to a year or more. Most children’s hospitals
will have a transition coordinator or team who can facilitate the
medical as well as social transition. In individuals who are able,
self-management skills can be gradually learned by attending
doctor consultations without their parents, if only for part of the
appointment. 16 Many patients with TSC will be unable to live
independently and planning for this should be discussed with
their transition team. This includes a discussion around powers of
attorney, advanced care planning and financial supports.
Typically the paediatrician and adult physician will have an overlap
year in which the patient will still see their regular paediatric neurologist
or specialist, but also see the adult physician at the same time. 17 This can
help the patient get used to a new hospital and new faces, and reduce
anxiety that can come from moving out of their comfort zone. Similarly,
if there are any issues that the patient is having with accessing adult
services, these can be discussed while they are still linked in to their
paediatrician. Some paediatricians will continue to see patients past the
typical age of transition due to the complexity of their TSC or difficulty
managing their care in the adult services.
Checklists are often employed by transition teams to help the
patient identify their needs and assess their readiness to transfer.
Checklists can help identify patients who may be at risk and establish
an objective view of what the patient already knows and what should
be discussed further. For example, the Royal Children’s Hospital
in Melbourne uses a checklist to assess whether the adolescent
understands their condition and medications, is able to help
themselves in an emergency and has adequate supports to ensure a
healthy lifestyle. 18 This is especially important with TSC where there
is a wide spectrum of ability to self-manage and be independent.
While it may seem simplistic, checklists provide an easy way to
prevent patients from falling through the cracks by necessitating a
discussion around specific issues that may otherwise be forgotten.
Maintaining continuity of care between
Most transition policies recommend that a health care summary
is passed to the receiving specialist when the patient is referred to
them. Some hospitals have templates but not all specialties have their
own tailored transition document. This is an important piece of
information that should summarise the patient’s diagnosis, medical
history, complications, current and previous medications, surgical
history and social situation.
It is also important that the GP is involved in this process.
They can provide continuity of care throughout the transition and
be involved in ensuring the individual is able to live a healthy and
fulfilling life. Further, the GP may be involved in locating neurologists
or other specialists within the patient’s local area. They will have
been involved throughout the child’s life and have a historical record
of the patient’s hospital appointments with specialists and hospital
admissions on file. The GP is a valuable constant during a time of
change. Unfortunately, many people with chronic health conditions
requiring specialist attention do not have a regular GP.
Potential improvements in the process
Transition clinics involving the paediatrician and adult physician
collaborating side by side could be one way to facilitate the process.
Successful transition clinics in other countries have shared
several key attributes - a formal transition process, persistent and
dedicated health care staff, sufficient staff, and a close working
relationship between the paediatricians and adult physicians. 19
However, studies of multidisciplinary transition clinics have also
found that financial costs and organisational barriers were difficult
to work with and could risk the long term success and expansion of
these clinics. 20 These barriers, however, may be representative of a
general lack of knowledge as to how important this period is to the
long term health of individuals with chronic medical conditions.
A specialised TSC clinic for young adult patients could be one way
to ease the transition for patients and facilitate communication
between specialties. This has been implemented at Sydney
Children’s Hospital with great success.
Adolescence is a period rife with changes for all young
people. Transitioning to adult care can be difficult but it is
part of growing up and becoming an independent and unique
individual. Although health care workers and hospitals are
becoming more aware of the importance of adolescent medicine
and managing effective transitions to adult care, there is still
room for improvement. TSC is a complex condition and a
successful transition to adult care will likely require active
involvement from health care workers, parents and patients.
1 Society for Adolescent Medicine (1993), Transition from paediatric
to adult-oriented health care systems for adolescents with chronic
conditions: A position paper. Journal of Adolescent Health 1993;
2 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.
(2007). Young people with chronic illness: The approach to
transition. Internal medicine journal, 37(8), 555-560.
There is no specific age at which
a patient must move to the adult health
system. Ideally, it is an individualised
process based on the patient’s needs.
However, most paediatric clinics will plan
for the transition to occur following the
completion of secondary school.
12 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.
(2007). Young people with chronic illness: The approach to
transition. Internal medicine journal, 37(8), 555-560.
13 Both, P., ten Holt, L., Mous, S., Patist, J., Rietman, A., Dieleman,
G., ... & Moll, H. (2018). Tuberous sclerosis complex: Concerns
and needs of patients and parents from the transitional period to
adulthood. Epilepsy & Behavior, 83, 13-21.
14 Pulsifer, M. B., Winterkorn, E. B., & Thiele, E. A. (2007).
Psychological profile of adults with tuberous sclerosis
complex. Epilepsy & Behavior, 10(3), 402-406.
15 Gleeson, H., & Turner, G. (2012). Transition to adult
services. Archives of Disease in Childhood-Education and
Practice, 97(3), 86-92.
16 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.
(2007). Young people with chronic illness: The approach to
transition. Internal medicine journal, 37(8), 555-560.
17 Kate Munro, Neurology CNC, Neurosciences, Lady Cilento
Children’s Hospital (Pers. Comm.)
18 Royal Children’s Hospital Melbourne. Healthcare skills checklist.
19 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.
(2007). Young people with chronic illness: The approach to
transition. Internal medicine journal, 37(8), 555-560.
20 Carrizosa, J., An, I., Appleton, R., Camfield, P., & Von Moers, A.
(2014). Models for transition clinics. Epilepsia, 55, 46-51.
3 McDonagh, J. E. (2005). Growing up and moving on: transition from
pediatric to adult care. Pediatric transplantation, 9(3), 364-372.
4 Busse, F. P., Hiermann, P., Galler, A., Stumvoll, M., Wiessner, T.,
Kiess, W., & Kapellen, T. M. (2007). Evaluation of patients’ opinion
and metabolic control after transfer of young adults with type 1
diabetes from a pediatric diabetes clinic to adult care. Hormone
Research in Paediatrics, 67(3), 132-138.
5 Frost, M., & Hulbert, J. (2015). Clinical management of tuberous
sclerosis complex over the lifetime of a patient. Pediatric health,
medicine and therapeutics, 6, 139.
6 Thiele, E. A., Granata, T., Matricardi, S., & Chugani, H. T. (2014).
Transition into adulthood: Tuberous sclerosis complex, Sturge‐Weber
syndrome, and Rasmussen encephalitis. Epilepsia, 55, 29-33.
7 Frost, M., & Hulbert, J. (2015). Clinical management of tuberous
sclerosis complex over the lifetime of a patient. Pediatric health,
medicine and therapeutics, 6, 139.
8 Krueger, D., et al. (2013). Everolimus treatment of refractory epilepsy
in tuberous sclerosis complex. Annals of Neurology, 74(5), 679-687.
9 De Vries, P. J., Whittemore, V. H., Leclezio, L., Byars, A. W.,
Dunn, D., Ess, K. C., ... & Jansen, A. (2015). Tuberous sclerosis
associated neuropsychiatric disorders (TAND) and the TAND
Checklist. Pediatric neurology, 52(1), 25-35.
11 Krueger, D. A., Northrup, H., Roberds, S., Smith, K., Sampson,
J., Korf, B., ... & de Vries, P. (2013). Tuberous sclerosis complex
surveillance and management: Recommendations of the
2012 International Tuberous Sclerosis Complex Consensus
Conference. Pediatric neurology, 49(4), 255-265.
OCTOBER 2018 ISSUE 108
Tips for working with your GP
At our recent Understanding TAND event in Adelaide, Dr
Jessica Smith from Adelaide Disability Medical shared
her advice on how to involve a GP in health core of a person
with TSC. We’ve combined this with advice offered by the TSC
families at the event.
Find a GP that you can work with.
You may like to consider whether you feel comfortable talking to
them and whether they are interested in TSC and willing to learn.
See the same GP.
Continuity of care is really helpful, so try not to switch between GPs
or practices. This should also be part of the care provided to adults
living in supported accommodation.
Involve your GP during childhood.
Even if you have a paediatrician that you see regularly, aim
to keep your GP in the loop on tests and treatments. This
may mean ensuring letters are also sent to them and booking
appointments just to keep them up to date. When the time
comes to start transitioning away from paediatric services and
your paediatrician, your GP will be more familiar with you
and your TSC.
Book a long consultation.
For anything other than a minor issue, or when you have
more than one topic to discuss, consider booking a long
consultation. This will help your GP give you enough time and
not be worried about making them run late for their
Drip feed your GP information.
They may need time to get familiar with the complexities of
TSC and how it affects your life. Share information about
TSC with them, including the management and surveillance
guidelines for TSC.
Dr Jessica Smith speaking in Adelaide about the role of a GP
International topical rapamycin clinical trial
This research developed a topical cream to treat the small tumours
that grow on the face of people with tuberous sclerosis complex.
While these tumours, called angiofibromas, do not cause as
many medical issues as the tumours on internal organs, they
are a constant reminder of how a person with TSC is different to
Our dedicated team at Sydney Children’s Hospital, led by
Drs Orli Wargon and David Mowat, were the only international
site in this multi-centre trial and joined other TSC centres of
excellence around the USA to complete the study. The project
was funded by over $200,000 raised through hundreds of
donations and fundraising efforts of members of Tuberous
Sclerosis Australia (TSA).
This project is the largest randomised clinical trial into this
treatment for angiofibromas. The trial showed that 80 percent
of people using the cream experienced significant improvement.
The study also showed that the medicine is not absorbed into the
bloodstream, which means this cream brings few risks of side
effects. The cream offers a safe and cost-effective alternative to
painful repeated laser surgery that, until recently, was the only
option for these disfiguring growths.
The medicine is not yet fully funded in Australia. TSA will
use these study results in our continued work to improve access
and affordability of the cream. People with TSC can find out more
about how to access the cream on our online information page at
A huge thank you to all of the families who participated in the
trial which included many study visits and blood tests.
We also acknowledge the dedication of everyone who
contributed to the fundraising campaign that made this
trial possible – particularly the efforts of the Fundraising
Friends committee including Debbie and Daimon Duffy, Matt
Cashmore, Mark Gold, Nicole Moog, Kathryn Kennedy, Hayley
Hill and Sue Pinkerton.
Koenig, M. K. et al. Efficacy and safety of topical rapamycin in
patients with facial angiofibromas secondary to tuberous sclerosis
complex: The treatment randomized clinical trial. JAMA dermatology
154, 773-780, doi:10.1001/jamadermatol.2018.0464 (2018).
Australian research into TSC and autism continues
Dr Bec Mitchell continues her valuable work on the DOTS* study
that is increasing our knowledge of the risk factors for autism in
children with TSC and of possible interventions for children at
risk of autism. Dr Mitchell is a developmental paediatrician at
Royal Children’s Hospital in Melbourne and is working with Dr
Simon Harvey and Dr Katrina Williams.
More than 30 children have
been through detailed developmental
assessments and reviews as part of
this project. We are grateful to the
families who have taken the time to
be a part of this.
Dr Mitchell has completed an analysis of existing work in
this area to understand what we can learn by combining results
of multiple small studies. For example, are children who have
seizures more likely to be later diagnosed with autism? Does a
higher number of tubers in a child’s brain increase the child’s risk
of autism? Do the genetic changes in TSC1 or TSC2 mean a child
is more likely to develop autism?
Understanding which children with TSC are at greatest
risk of autism may help these children access earlier
interventions such as parent coaching and speech and language
interventions. We may also learn more about whether there are
specific interventions for these children that can reduce their
developmental delays or their risk of autism.
More than 30 children have been through detailed developmental
assessments and reviews as part of this project. We are grateful to the
families who have taken the time to be a part of this. Thank you to the
Romios family for fundraising for this project in honour of their son
Kristian and also to the University of Melbourne for funding
Dr Mitchell’s PhD through the Leslie Eric Paddle scholarship.
We look forward to sharing more about Dr Mitchell’s work as
it is published.
Watch Dr Mitchell talk about this study and early
development in children with TSC at www.tsa.org.au/DOTS
*Development outcomes of children with tuberous sclerosis
OCTOBER 2018 ISSUE 108
Study suggests that mTOR inhibitor medicines safe in
younger children with TSC
An international collaboration has combined data from 60
children younger than two years of age with TSC who have taken
an mTOR inhibitor medicine (everolimus or sirolimus). Sydney
Children’s Hospital collaborated with centres in the USA, Europe,
the Middle East and South America.
This study found that younger children were being prescribed
these medicines most commonly for epilepsy (45%), SEGAs (39%)
and rhabdomyomas (7%), with many doctors reporting they have
prescribed these medicines to treat multiple signs of TSC in the
Overall the study found the side effects of the medicine were
similar in younger children as in other age groups. Mouth ulcers
and infections were the most common side effects reported. Many
doctors reported that side effects were managed by temporarily
stopping treatment and also by changing from everolimus to
sirolimus or vice versa.
The study did not aim to measure whether the medicine was
effective for treating signs and symptoms of TSC. However the
study did find that over 60% of patients reported at least a partial
positive response. The study has significant limitations, including
that it is relatively small study, relies on the recall and record
keeping of various TSC centres and included a very large number
of children from one US centre.
This is an important study that documents how these
medicines are being used in younger children. This can help
doctors treating younger children with TSC today and also may
An international collaboration has
combined data from 60 children younger
than two years of age with TSC who
have taken an mTOR inhibitor medicine
(everolimus or sirolimus).
be a foundation for future research that uses these medicines
before signs and symptoms of TSC have progressed.
Congratulations to Dr John Lawson and Dr David Mowat on
Krueger DA, et al., Short-term safety of mTOR inhibitors in
infants and very young children with tuberous sclerosis complex
(TSC): Multicentre clinical experience, European Journal of Paediatric
Neurology (2018), https://doi.org/10.1016/j.ejpn.2018.06.007
Dr David Mowat and Dr Orli Wargon
Thank you to all our donors and fundraisers around Australia who support
Tuberous Sclerosis Australia. Your generosity allows us to keep supporting
Australian TSC families.
Did you know we don’t receive any government funding to provide our busy
information and support services? And that our Australian TSC researchers are
waiting for us to fund their latest projects?
If you aren’t already involved in fundraising, we’d love to help you to get
involved. To learn more about our fundraising projects or to talk about your
own ideas, please call us on 1300 733 435 or email email@example.com
TSC Global Awareness Day
May 15 was Global Awareness Day for tuberous sclerosis complex. We had awareness
and fundraising events across the country in workplaces, homes and schools.
Thank you to our wonderful volunteers and donors for supporting the first
#Tatts4TSC to celebrate TSC Global Awareness Day. We loved seeing photos of all
your wave tattoos.
Almost $3,000 was raised to help individuals and families affected by TSC. We
are thrilled so many of you shared your TSC stories of learning to ride the TSC
waves, including the occasional tsunamis. We look forward to a bigger and better
#Tatts4TSC in 2019.
Christy and Cooper
Our newest TSC Hero joins our Sydney City2Surf
and Bridge2Brisbane team
Melissa signed up to run in Sydney’s City2Surf on 12 August 2018. She was
inspired by her dear friends, Amber and Yvette, whose gorgeous little boy
Samuel has been diagnosed with TSC. Melissa says, “I can’t do anything to change
Samuel’s diagnosis, but I can help raise funds and spread awareness”. Melissa, with
other TSC Heroes Michelle, Sophie, Antony and Tash, have raised over $5,000 in this
year’s City2Surf. What a great effort! Melissa also joined the Bridge2Brisbane fun run
on 26 August along with our long standing supporters Miranda and Kerri. Together
these TSC Heroes raised over $820. Another great effort!
Sign up to be a TSC Hero
Do you run, walk, swim, cycle? Why not join our TSC Hero team and participate in a
fun run, marathon or even a triathlon. Our TSC Hero teams are all around the country
raising vital funds for TSA’s information, support and research projects. We can help you to
become a hero too. Get started by following our TSC Heroes Facebook page, sign up to an
event in your city and engage with your family and friends to make donations. We’ll send
you a TSC Heroes T-shirt and support you in your fundraising efforts
Miranda and her team of TSC Heros
OCTOBER 2018 ISSUE 108
Christmas in July
Little Emma’s journey with TSC
inspired her local community to
raise funds for TSA at a Christmas in July
fundraiser on 21 July at Padstow Bowling
and Snooker Club. Special thanks to
Emma’s grandparents, John and Donna,
for rallying over 150 people to get together
and support people living with TSC. Just
over $11,000 was donated to TSA. Well
done and thank you so much.
massive thank you to everyone
A who so generously supported our
tax time appeal. Brody’s gorgeous face
helped spread our message and we thank
his family for sharing his photo and
their story with us. Over $13,000 was
donated in June. This will greatly assist
us in our work helping individuals and
families affected by TSC. We especially
welcome our new members who joined
TSA as part of this appeal. Thank you!
We celebrated the fifth annual
Lizzie’s Lunch fundraiser on
Sunday 3 June at the Hills Lodge, Castle
Hill. Thank you to Sue Pinkerton and
everyone who came along and helped raise
just over $19,000. It was wonderful to have
our TSC paralympian Taylor Doyle and
her mum Shireen join us this year. Our
thanks to Shireen for sharing her story
about her family’s life with TSC.
Treatment trial publication
To celebrate the publication of the topical rapamycin treatment trial TSA
hosted a small thank you event at Sydney Children’s Hospital. We would
like to thank everyone who was involved in this research, especially Dr David
Mowat and Dr Orli Wargon and the rest of the TSC multidisciplinary team at
Sydney Children’s Hospital, Randwick.
It was the combined efforts of our TSC community in raising
over $200,000 that ensured Australia could participate in this ground
IBM alumni luncheon
group of his former colleagues joined our Treasurer and TSC grandfather, Patrick
A Norris, for lunch recently. The group generously made a donation of $400 to TSA.
Thanks IBM old boys!
f running marathons isn’t your thing, please consider making an annual contribution
through a membership of TSA. Thank you to everyone who already supports TSA in this way.
Memberships start from just $25 per year and all of our members receive a printed copy
of Reach Out. Plus you get to experience that wonderful feeling of knowing you’ve joined an
organisation dedicated to helping Australians living with this devastating rare disease. It’s
easy to become a member today at www.tsa.org.au/join
We are thrilled to have received a
generous contribution of $2,000
from the Rotary Club of Orange Daybreak
following Clare Stuart’s presentation
on TSC Global Awareness Day. If you
know anyone in your local Rotary or
Lions Club, please consider approaching
them to talk about your experiences
with TSC. These service clubs are
wonderful supporters of so many worthy
organisations – help us throw our hat in
Thank you again to all our supporters for your extraordinary help. YOU make a
difference to people living with TSC. We couldn’t do it without you.
Celebrating the first Australian Comedy for a Cure
Our friends at TS Alliance in the USA have raised millions of dollars for TSC
research through their annual Comedy for a Cure event. Now Australians have
joined in the fun. Thank you to everyone who came along to our first Australian
Comedy for a Cure.
6 October 2018
Athenaeum Theatre, Upstairs
188 Collins Street, Melbourne
TO ALL OUR
Comedy for a Cure will help TSA raise vital funds towards a cure for TSC.
We aim to raise over $20,000 in the first year to invest in ground-breaking TSC research
happening right here in Australia.
Thank you to our dedicated volunteers from our Victorian TSC community that have made
this event a reality: Alison McIvor, Jen McCartin, Kate Green, Eryn Budgen and Narelle Kerr.
This issue of Reach Out is sponsored by the generous donation of the
Rotary Club of Orange Daybreak.
Thank you for recognising the importance of Reach Out in the lives of
thousands of Australian families living with TSC.
Read more about this amazing service club at
Do you know a business, organisation or individual who would like to sponsor
an issue of Reach Out? Contact us on 1300 733 435 to find out more.