Reach Out October 2018

Reach 

Out 

OCTOBER 2018 ISSUE 108 

Congratulations 

Orli 

p5 

Understanding 

TAND events 

around Australia 

p7 

Our 

transition 

stories 

p10 

www.tsa.org.au

TSA News 

Contents 

Editorial................................................................................................. 3 

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 

Snapshot............................................................................................... 22 

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. 

Our priorities 

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 

Committee Members 

Treasurer Patrick Norris 

Secretary Alison McIvor 

Georgina Schilg 

Kate Veach 

Michael Jones 

Public Officer Debbie Crosby 

Medical Advisory Board Dr David Mowat, 

Clinical Geneticist 

General Manager 

Fundraising and 

Communications 

Dr John Lawson, 

Paediatric Neurologist 

Dr Sean Kennedy 

Paediatric Nephrologist 

Clare Stuart 

Kate Garrard 

The TSC Information Service 

Visit our website for extensive information about TSC for individuals, their families and 

professionals www.tsa.org.au 

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 info@tsa.org.au 

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 

www.tscinternational.org 

2 



OCTOBER 2018 ISSUE 108

TSA News 

Editorial 

Teresa Llewellyn-Evans 

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 

wider community. 

Reach Out Official Journal of Tuberous Sclerosis 

Australia, Inc. 

18 Central Rd, Beverly Hills NSW 2209 

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: Teresa Llewellyn-Evans 

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, 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 

are limited. 

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 

similar situations. 

Your advice and 

experiences will help so 

many people as they 

go through similar 

situations. 

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 

to TSA. 

4 




TSA News 

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 

Children’s Hospital. 

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.” 

If 

you would 

like to make 

a nomination for 

the 2019 Elizabeth 

Pinkerton Memorial 

Award, please visit 

www.tsa.org.au/ 

epma 

Dr Orli Wargon and Clare Stuart 

5

TSA News 

TSC World 

Conference 

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: 

https://www.tsalliance.org/2018-world-tsc-conference-videos 

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 info@tsa.org.au 

Clare (2nd from right) 

with TSCi members from 

Hong Kong 

TSCi representatives 

Wave tattoos are 

taking off worldwide 

6 




Improving our 

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 

7

Personal Stories 

Celebrations 

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. 

Juliana, WA 

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. 

Paula, VIC 

8 





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 reachout@tsa.org.au with your celebrations. 

9


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. 

Liam’s story 

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 

challenging behaviour. 

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 

10 





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. 

Exercise 

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 

eclectic!) 

Diet 

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! 

Music 

Liam’s world is full of music. He adores his iPad and we can deescalate 

most situations using his favourite music. 

Sexual health 

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 

his bravery. 

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 

Relaxation 

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. 

Good decisions 

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 

11


Amelia’s story 

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 

lymphangioleimyomatosis. 

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 

12 

Amelia (middle) at a recent camp with two friends she made in primary school (left) and her favourite support worker (right). 





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. 

Post school 

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. 

13


Leah’s story 

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 

breathing room. 

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 

14 





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. 

15

Information 

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 

medical condition. 

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 

to adulthood 

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 

and employment. 

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 

16 




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 

current practice 

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 

health professionals 

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 

17

Information 

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; 

14:570–576, p.570. 

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. 




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. 




17 Kate Munro, Neurology CNC, Neurosciences, Lady Cilento 

Children’s Hospital (Pers. Comm.) 

18 Royal Children’s Hospital Melbourne. Healthcare skills checklist. 

https://www.rch.org.au/uploadedFiles/Main/Content/transition/ 

Adolescent_Transition_checklist_1.pdf 




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. 

10 Ibid. 

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. 

18 




Research 

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 

other patients. 

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 

19

Research 

Research News 

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 

everyone else. 

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 

www.tsa.org.au/topicalfaq 

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 

20 




Research 

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 

one child. 

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 

this publication. 

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 

21

Fundraising 

Snapshot 

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 kate.garrard@tsa.org.au 

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 

Melissa 

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 

22 




Fundraising 

Emma 

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. 

Lizzie’s Lunch 

Thank you 

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! 

Brody 

Lizzie’s Lunch 

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 

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 

breaking research. 

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! 

Join TSA 

I 

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 

Thanks Rotary 

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 

the ring. 

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. 

23

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. 

Saturday 

6 October 2018 

Athenaeum Theatre, Upstairs 

188 Collins Street, Melbourne 

www.comedyforacure.org.au 

THANK YOU 

TO ALL OUR 

VICTORIAN TSC 

FAMILIES, OUR 

PRIZE DONORS 

AND OUR 

SUPPORTERS. 

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 

www.rotaryorangedaybreak.org.au 

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.

Reach Out October 2018

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