Reach Out April 2019

Reach 

Out 

APRIL 2019 ISSUE 109 

Our new 

diagnosis 

stories 

p14 

Everolimus 

added to PBS 

p8 

Farewell 

Clare 

p7 

www.tsa.org.au

TSA News 

Contents 

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

President’s Report................................................................................. 4 

TSC Global Awareness Day – #Tatts4TSC......................................... 5 

Welcome Jackie .................................................................................... 6 

Farewell.................................................................................................. 7 

We’re Making a Parachute!.................................................................. 7 

New Epilepsy Treatment Added to Pharmaceutical 

Benefits Scheme.................................................................................... 8 

Emily’s Experience with Everolimus for Epilepsy............................. 8 

A Little Book About TSC....................................................................10 

Baker McKenzie Partner with Tuberous Sclerosis Australia..........11 

Celebrations......................................................................................... 12 

Just Between Us – New Diagnosis Stories.........................................14 

Issues in TAND................................................................................... 20 

Fundraising Snapshot........................................................................ 22 

Our cover image is of Oliver from NSW. His father Jeremy shares the story of 

Oliver’s diagnosis with TSC in this issue. 

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 

Jackie Gambrell 

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 



APRIL 2019 ISSUE 109

TSA News 

Editorial 

Teresa Llewellyn-Evans 

This issue of Reach Out is full of both 

endings and beginnings, and reminds 

me of the Roman god of transitions, Janus, 

who is often depicted looking both to the 

past and to the future. I’ve always found 

that idea interesting, but it may just be 

because I am born in January, the month 

named after Janus! We’re looking back at the 

projects that came to fruition at the end of 2018 

after many months and even years, and look forward 

to what we can achieve through new opportunities and 

partnerships and continuing to connect with each other through 

various TSC events this year. Debbie Crosby sums these up for 

us in her president’s report on page 4. 

Our lead story is the breakthrough decision by the Federal 

Government to add everolimus (Afinitor) for epilepsy to the list 

of subsidised medicines. This is a life-changing decision for many 

people living with TSC as most would struggle to pay for this 

medicine themselves. Read more about this amazing result on 

page 8, including the difference it has made for one family (see 

Emily’s experience of everolimus for epilepsy by Emily’s mum, Dawn 

on page 8.) 

In December we launched A Little Book About TSC, a new 

picture book that helps explain TSC to younger children with 

TSC, their siblings, friends and classmates. Read more about it on 

page 10 or order a copy today to share with your child’s teacher. 

Our Just Between Us stories, starting from page 14, focus on 

the time of diagnosis. Three parents look back at the time when 

their child was diagnosed with TSC and what this meant for them 

and their family and friends. They also share what they most 

look forward to. Miriam shares her story of her son Caleb’s TSC 

diagnosis in He definitely doesn’t have it; Dawn shares the story of 

her daughter Emily’s TSC diagnosis in She was my third child so I 

thought I knew what to expect; and Jeremy shares his son Oliver’s 

TSC diagnosis in Something has been found on the scan. 

Looking forward, Tuberous Sclerosis Australia (TSA) will 

be developing a Parachute Pack, a new diagnosis resource that 

will make a tremendous difference for newly diagnosed parents 

and carers. This is thanks to a generous new 

partnership with the nib foundation, together 

with the proceeds of the 2017 Christmas 

appeal. Read about this in We’re making a 

parachute on page 7. 

Clare Stuart synthesises some of the issues 

that emerged in the “Understanding TAND*” 

events with Professor Petrus de Vries last year and 

looks forward to the future for TAND (see page 20 

to read this article and for links to the TAND checklist 

screening tool information page and other helpful resources). 

And we have all our usual features. Read more about the small 

victories our individuals with TSC make every single day (see 

Celebrations on pages 12-13). Our fundraising snapshot highlights 

some wonderful achievements of our TSC Heroes and looks 

forward to new opportunities in 2019 (see page 22). All highlight 

partnerships which continue to make a difference to TSA’s work 

and demonstrate that you can have fun too! And what a difference 

you can make by just spreading the word about TSC to your 

friends and work colleagues. 

An ending I am particularly saddened by is farewelling our 

General Manager, Clare Stuart. Clare has had made such an 

amazing contribution to the TSC community over many years 

in many capacities. Read more from Clare herself on page 7. I am 

sure you would agree that TSA has been truly blessed to have had 

her working for us. 

Looking forward we welcome Jackie Gambrell as our new 

General Manager. Read Jackie’s story on page 6. 

I look forward to continuing to share the stories that matter to 

you in your journey with tuberous sclerosis complex (TSC). 

*TAND stands for tuberous sclerosis associated 

neuropsychiatric disorders. 

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 

Welcome to our first issue of Reach 

Out for 2019. Looking back over 

the last six months, there have been 

many achievements and highlights for 

Tuberous Sclerosis Australia (TSA) and 

many reasons to celebrate. 

We are always working towards 

increasing our fundraising and securing 

grants to ensure we are able to funds the 

many projects that support our tuberous 

sclerosis complex (TSC) community. The 

first ever Comedy for a Cure was held in 

Melbourne and was a great success. Thank 

you to all our local volunteers who worked 

so hard in organising the event, sourcing 

prizes and helping out on the night. I would 

also like to thank our fundraising and 

communications lead, Kate Garrard, and 

our committee member, Alison McIvor, 

for their amazing efforts in bringing this 

event together and raising $12,000. We 

are currently planning out next Comedy 

for a Cure in Sydney and we hope you will 

support it. It should be another great night. 

Many of our achievements are 

projects we have worked on for many 

months or even years. One of these was 

the book launch of A Little Book About 

TSC in December 2018. Many families 

find it difficult to explain TSC to siblings, 

other young family members and even 

to adults. This picture book is a fantastic 

way to explain TSC and, thanks to 

the Place family and their family and 

friends who raised much needed funds 

through TSC Heroes, this resource is now 

available to the TSC community. 

Thank you to 

the Australian families 

who participated in the 

Exist-3 trial at the Sydney 

Children’s Hospital. 

2018 ended with another great 

achievement - the Federal Government 

announced that the medicine everolimus 

(Afinitor) had been added to the 

Pharmaceuticals Benefit Scheme for 

the treatment of epilepsy. TSA, together 

with clinicians and families, have been 

advocating for this approval since 2017, 

and now Australians with TSC will have 

affordable access to these life-saving 

medications. Thank you to the Australian 

families who participated in the Exist-3 

trial at the Sydney Children’s Hospital. 

It was also great to have some national 

media coverage for this announcement and 

educate the public about TSC. 

This year we have some great 

initiatives planned for you. Look out 

for information on the upcoming TSC 

Connect weekend in Brisbane in May for 

adults with TSC. We are always working 

towards connecting people with TSC to 

share their stories and information, and 

this weekend is a great opportunity for 

adults with TSC to come together from 

all over Australia. I hope you’ll be able to 

attend. 

On a sadder note, we say farewell 

to Clare Stuart, our General Manager. 

The TSA committee and I would like to 

wish Clare all the very best in the next 

chapter of her working life. Clare has 

been instrumental in leading TSA to 

become the organisation it is today. We 

would like to thank her for her passion, 

commitment and leadership to TSA, and 

for her unwavering support to our TSC 

community. 

I would also like to extend a welcome 

to our new General Manager, Jackie 

Gambrell, and look forward to working 

with her and continuing the great work 

that TSA is doing. 

Thank you to my colleagues on the 

committee who volunteer their time and 

always do great work supporting TSA and 

the TSC Community. I look forward to 

another great year for TSA. 

4 




#Tatts4TSC 

Do something fun and get a tattoo to raise awareness and 

funds for tuberous sclerosis complex (TSC). 

Don’t worry, they’re just temporary! 

You can join this year’s TSC Global Awareness Day celebrations by joining our 

#Tatts4TSC campaign. 

Getting involved is easy: 

Talk to your workplace about holding a gold coin morning tea on 15 May 2019. 

You could also host an event at home, or in your playgroup or school. 

1. Register your event at www.tsa.org.au/Tatts4TSC or contact Kate on 0434 391 430. 

2. Send an email to your colleagues or friends letting them know what’s happening. 

3. On May 15, decorate the event space with posters we will supply, take your collection tin and temporary tattoos and 

talk to your colleagues and friends about TSC and why we need their help. 

4. Donate the funds raised to TSA. 

5. Everyone who registers an event gets 20 x free temporary tattoos to share with their supporters to raise awareness of 

TSC. Get in quickly to secure yours. 

If the Cancer Council can raise millions each year through The Biggest Morning Tea – surely we can raise awareness of 

TSC and a few dollars too. 

Go social 

We’d love to see your events and your tatts on 

Instagram and Facebook. Use the #Tatts4TSC hashtag 

and tag us @AuTSC 

What if organising an event is not your thing? 

You can still join us by purchasing a temporary tattoo. 

Visit www.tsa.org.au/Tatts4TSC and select the ‘buy it 

now’ option. Tattoos are two for $10 or 5 for $20, 

including postage. 

Why the wave? 

You’ll notice our temporary tattoo design 

features a wave. People living with TSC liken 

their journey to riding waves. There are highs 

and lows and unpredictable tides that threaten 

to tow you under. We believe that even though 

we often can’t control the TSC waves, we can 

learn to surf. 

Everyone who supports #Tatts4TSC can wear 

their temporary tattoo with pride, knowing 

they’ve helped someone with TSC learn to ride 

the waves. 

Thank you to everyone who got involved in #Tatts4TSC in 2018. 

You helped raise lots of awareness and $3,000. What a great start. 

Let’s make 2019 bigger and better! 

#Tatts4TSC is an initiative inspired by TSC Global Awareness Day. One million people 

worldwide have TSC. There is no cure, but research is helping find new and better treatments. 

We won’t give up the fight until we have a cure. This year join the worldwide fight on Global 

Awareness Day, 15 May 2019. 

Your support will help us increase awareness of this rare genetic disease and raise vital funds to improve the lives of families 

facing the challenges of TSC. Visit our website to register now: www.tsa.org.au/Tatts4TSC or contact Kate on 0434 391 430.

TSA News 

Welcome Jackie 

The management committee of Tuberous Sclerosis Australia 

(TSA) would like to extend our heartfelt thanks to our 

departing General Manager, Clare Stuart. Clare has made a 

momentous contribution to the Australian TSC community and, 

whilst we are sad to see her leave, we wish her every success in the 

next chapter of her life and look forward to keeping in touch. 

At the same time, the committee is very pleased to announce 

that Jackie Gambrell has joined as our new General Manager. 

Jackie comes to TSA from Black Dog Institute and has previously 

worked in other not for profits, including early childhood 

education and medical research publishing. We are confident 

that TSA will continue to be in good hands and are excited to 

embark upon this next phase of our evolution. 

Hello from Jackie 

It is a great privilege to take up the 

position of General Manager with 

TSA. I am inspired by its work and 

the difference it makes to so many 

Australians and I’m looking forward 

to meeting many of you over the 

coming months. 

I’d like to acknowledge the 

tremendous work already being 

done by everyone involved in TSA 

and, in particular by Clare, who has 

provided such fabulous leadership. 

Being new to the TSA family, I know I have 

have lots to learn and I’m excited by that. I’m 

grateful for the opportunity to build upon the 

solid foundations the team has created and believe 

my diverse background in family and community-driven 

service delivery and research will assist me. 

My number one priority is the quality and relevance of the 

services TSA provides and connecting with the community we 

serve. I will always appreciate your help and support in providing 

feedback on our work and letting us know where you see gaps in 

the services we provide. 

I look forward to working with you, with Kate, the management 

committee and an ever growing number of partners and supporters 

as we continue to raise awareness of, and improve outcomes for, all 

those who are affected by tuberous sclerosis complex. 

6 




TSA News 

Farewell 

Clare Stuart 

feel both great pride and great sadness to be finishing my 

I term as General Manager of Tuberous Sclerosis Australia 

(TSA). I am grateful for the opportunity to make a difference 

to the Australian tuberous sclerosis complex (TSC) community 

through my volunteer and paid work for TSA. I can still 

remember my first project for TSA when I was in high school. 

I created our first electronic membership database in the early 

1990s, including the task of typing hand written contact details 

maintained by Lynn Wilson, the founder of TSA. 

Being a big sister to Lizzie Pinkerton, who had TSC, was a 

life-defining experience for me. It taught me first hand, not only 

the challenges that TSC can bring to a family, but also the way that 

TSA can have a positive impact on a whole community of people 

living with TSC. I learnt much of this from my own mother, Sue 

Pinkerton. While she was President of TSA, Sue shared her dream 

of a TSA with paid staff, removing some of its reliance on volunteers 

and helping the organisation to grow. It is wonderful that, before Sue 

retired as President of TSA, we were able to make that happen. It was 

an honour to become our first staff member in 2011. 

Since then, TSA has been able to expand its information 

and support services and engage with more people living with 

TSC from more parts of Australia. We have been able to provide 

accurate and balanced TSC information to thousands of people 

and connect with a range of health professionals to improve their 

knowledge of TSC. We have seen the first targeted medicines for 

TSC become available and have successfully advocated for these 

to be funded by the Australian government. We have been able 

to increase our fundraising income and expand our fundraising 

activities to involve more people in the community. This has 

increased awareness of TSC and its effect on individuals and their 

families. There is much more that we have on our to do list and I 

encourage you to get involved in TSA’s activities and fundraising as 

much as you are able to. 

I have made many wonderful friendships through TSA and I 

will miss the opportunity to speak to TSC families over the phone 

and at TSA’s education events. I hope that I will still get to connect 

with you, perhaps at a TSC Heroes event in the future. 

Thank you to my family and friends for their support of my 

work with TSA - to my husband Brendan, who made it all possible 

while our children were very young, and to my sister-in-law, 

parents and friends for many nights in their guest bedrooms to 

keep TSA’s travel costs low. And a final thank you to all my friends 

who have joined me in TSC Heroes events, offered their skills as 

volunteers and supported Lizzie’s Lunch. 

I am leaving TSA for personal reasons and this is only possible 

because I know the organisation is strong and well governed. 

TSA is safely in the hands of a dedicated and diverse management 

committee and wonderful volunteers and staff, including our 

untiring fundraising lead, Kate, who has been a wonderful 

colleague and friend for the last two years. 

I wish Jackie all the best in her role as the new General 

Manager and look forward to what TSA will accomplish for 

Australians with TSC under her leadership. 

We’re Making a Parachute! 

We are thrilled to share news that the nib foundation has 

provided a major grant of $30,575 to TSA to create our 

Parachute Pack, a new diagnosis resource for parents and carers. 

This generous contribution, combined with the proceeds of our 

2017 Christmas appeal, makes this project possible. 

We’ve called it a Parachute Pack because it won’t prevent 

families experiencing the free fall of a new diagnosis of TSC, but it 

will provide the information, connections and hope they need to 

navigate the early days. 

We will be working on this important new information 

resource during 2019. We have partnered with the Centre for 

Community Driven Research to complete a research project with 

20 families living with TSC to improve our understanding of what 

happens when a child is diagnosed with TSC. The outcomes of 

this, along with interviews with health professionals, will help us 

to develop these new resources and ensure they are available when 

people hear the words ‘tuberous sclerosis’ for the first time. 

Thank you to all our families and health professionals 

who have given their time to this project so far and to the nib 

foundation for their partnership. 

7

TSA News 

New Epilepsy Treatment 

Added to Pharmaceutical 

Benefits Scheme 

We are pleased to share news that everolimus (Afinitor) for 

epilepsy has been added to Australia’s pharmaceutical 

benefits scheme (PBS). From 1 January 2019, this medicine 

will be funded under the PBS to treat seizures for people with 

tuberous sclerosis complex (TSC). 

Epilepsy is one of the most common symptoms of TSC and 

approximately 90% of people with TSC will have seizures. For 

many of these, seizures start when they are a baby and they can 

be very difficult to manage, with up to half of those affected not 

being able to get adequate seizure control with available antiepilepsy 

medications. 

“We have to deal with TSC every day. We can never forget it. 

Every day we see our family member endure seizures, disturbed 

sleep, medications, behaviour disturbances, learning difficulties 

and speech and language delays. Every day is a challenge,” says a 

parent of a child with TSC and hard to control seizures. 

This new medicine for seizures for people with TSC has been 

shown, in clinical trials, to be useful to many people with TSC and 

difficult to control epilepsy. A small number of people obtained 

freedom from their seizures and many others had significantly 

less seizures, allowing them to participate in school, work and 

community programs. 

Tuberous Sclerosis Australia (TSA) made a submission to the 

committee that makes recommendations on which medicines 

are included on the PBS. Thank you to all members of the TSC 

community who assisted us with this submission in 2017. 

The announcement of the listing from the Federal Health 

Minister, the Honourable Greg Hunt, resulted in national media 

coverage. Thank you to the Crosby family for sharing their story 

with print and television outlets. 

Everolimus (Afinitor) has been approved by the Therapeutic Goods 

Administration (TGA) as a safe and effective treatment for several 

signs and symptoms of TSC – subependymal giant cell astrocytomas 

(SEGAs), kidney angiomyolipomas (AMLs) and seizures. 

Sammy having an EEG test to understand his seizures 

Australia continues to be a world leader in affordable access 

to everolimus and other mTOR inhibitor medicines. Funding is 

one of the final steps in a long process of making this medicine 

available. Thank you to all the researchers and clinical trial 

participants, particularly, Dr John Lawson and the Australian 

families who participated in the Exist-3 trial at Sydney 

Children’s Hospital. 

If you could like more information on whether everolimus 

may be a suitable treatment option for you or someone in your 

family, please discuss this with your doctor(s). You can also call 

the Tuberous Sclerosis Information Service on 1300 733 435. 

Emily’s Experience with Everolimus for Epilepsy 

Dawn Bowra, ACT 

Emily’s history with epilepsy has been a roller coaster ride ever 

since she started having infantile spasms. We exhausted all 

seizure medication options, even trying some more than once. 

Surgery wasn’t a safe option for Emily as she also has a connective 

tissue disorder and there wasn’t a clear target for epilepsy brain 

surgery. Emily was having around 60 seizures a day of many 

different types which sometimes needed emergency trips to hospital. 

It was fortunate that, because I chart all of Emily’s seizures, 

I could prove that Emily met the criteria for the Exist-3 clinical 

trial of everolimus (Afinitor). The trial was ‘blinded’, which 

meant neither we nor her doctors knew whether Emily was on the 

medication or a placebo sugar pill. Within the first few weeks, we 

saw a dramatic reduction in her seizures and we just hoped this 

wasn’t a coincidence. 

8 




TSA News 

Everolimus has given us so much. 

The reduction in Emily’s seizures has 

given her cognitive awareness, and the 

reduction in her tumours has increased 

her life expectancy and we expect that 

it will have reduced her chances of 

developing lymphangioleimyomatosis 

(LAM) as she gets older. 

Emily picking up her script for everolimus with her mum Dawn 

Emily had side effects, both positive and negative, from being 

on the medication. This included mouth ulcers, a common side 

effect of the medication, which we managed with frequent teeth 

brushing. Emily also had poor healing, frequent infections and 

constant hay fever. I think her system became hyper-vigilant to 

anything that might cause infection. Taking a break for around five 

days helped with infections or when Emily needed to have surgery 

for something else. Emily’s white patches also started to shrink and 

her angiofibromas started to disappear. Her MRI showed that her 

kidney and brain tumours were shrinking. 

We’ve seen Emily’s awareness increase, which has been great, 

but it has also brought a few new issues. Because Emily is having 

less seizures we’ve seen her speech develop and she’s also started 

communicating her needs and choices using her iPad. We’ve seen 

even more of her dark sense of humour as she’s emerged from 

what, I imagine, was a fog of seizures. She’s always had echolalia 

and echoed unusual accents. Now she’ll comment directly on 

funny accents and even refers to one special doctor as “funny 

doctor”. She’s even learning to read. Everolimus has given us so 

much. The reduction in Emily’s seizures has given her cognitive 

awareness, and the reduction in her tumours has increased her life 

expectancy and we expect that it will have reduced her chances of 

developing lymphangioleimyomatosis (LAM) as she gets older. 

The flipside of Emily’s increased awareness is increasing 

anxiety, which has introduced new challenges and 

medications into the mix. We continue to face huge 

challenges finding mental health services to help 

Emily with these issues and, as she is getting 

bigger and stronger, this can lead to others 

being hurt when she isn’t coping. 

We’ve gone from yearly MRIs to only 

needing to wrestle her down for this once 

every three years. I am 150% happy with 

what we have done. Even though it meant 

we have had to experiment on Emily, for us the pros outweighed 

the cons. Emily will never go to university to get a degree, but she 

is a pioneer in medical research for TSC and this is her professional 

contribution to our society. 

It is a difficult decision for any TSC family to make to try 

this medicine. I would encourage others to make the decision as 

a whole family and with the help of professionals. Consider the 

possible outcomes for your family member with TSC. We felt we 

didn’t have a choice as Emily had no other options. We also sought 

the help of a counsellor to help our family make this decision. 

I think it is wonderful that we don’t have to find the money to 

pay for this medicine ourselves. I think the majority of Australian 

families would really struggle to cover the cost of the medicine. It 

won’t work for some people but I’m sure it will improve the quality 

of life for the people it does work for. The federal government’s 

decision to include this medicine on the pharmaceutical benefits 

scheme (PBS) says to me that they want the best outcomes possible 

for Emily. Emily is so lucky to have TSC in Australia. 

Without TSA’s representation and advocacy in the PBS listing 

process, I am not sure if a decision would ever have been made. 

There are thousands of genetic conditions and we need TSA to 

get behind the issues that affect the Australian TSC community 

and change lives for us and also for the Australian children 

children yet to be born with TSC. 

9

TSA News 

A Little Book About TSC 

Little Book About TSC is the first children’s book of its kind 

A in Australia. It helps to explain this complex condition to 

the children who live with tuberous sclerosis complex (TSC), 

their friends, family members and classmates. The book features 

a cell named Tubee who explains that, although each child 

with TSC is different, for many children TSC means medicine, 

hospital visits and seizures. 

Manoela and Jeff Place have been the driving force behind this 

project in honour of their daughter Zarah who lives with TSC. 

“When our daughter Zarah started school, her teachers 

were amazing at helping her new friends understand why Zarah 

needed additional help at school. We searched for a book to 

explain TSC to Zarah’s classmates, siblings and cousins, but 

found nothing. The response from our friends and family to our 

fundraising project was amazing. We are grateful for the pro bono 

contributions of illustrator, Dean Crawley, and graphic designer, 

Camila Hardy, who helped us create this book for Zarah and all 

children living with TSC,” says Manoela. 

The book was launched in Sydney late last year and we 

celebrated with members of the TSC Community and many 

of the TSC Heroes who made this project possible. Thanks to 

fundraising efforts as a part of TSC Heroes, one copy of this book 

is available to each Australian TSC family for no charge. 

To order your copy, please visit www.tsa.org.au/tubee 

Zarah Place with her 

school teachers 

Dress up fun at the 

book launch 

The story of Tubee 

being read for the 

first time 

10 




TSA News 

Baker McKenzie 

Partner with Tuberous 

Sclerosis Australia 

Tuberous Sclerosis Australia (TSA) is delighted to announce 

our new partnership with global law firm Baker McKenzie. 

After a competitive internal selection process, TSA was 

selected as one of three national charities Baker McKenzie will 

work with for the next three years. Baker McKenzie will support 

TSA by offering ‘in kind’ support and volunteers for TSA events 

such as awareness and fundraising events and involvement in 

TSC Hero events. 

This is a terrific opportunity for TSA to raise awareness and funds 

to improve the lives of Australians living with the challenges of TSC. 

TSA wishes to thank Mia from Melbourne for nominating 

us for this partnership opportunity. Mia is a lawyer at the 

firm and her daughter, who is two years old, was recently 

diagnosed with TSC. Mia says: “I have been in regular 

contact with TSA since my daughter’s TSC diagnosis and the 

information and support I have received has been invaluable 

during a difficult time. I am thrilled the firm I work for has 

chosen to support this small but dynamic organisation and I 

know we can make a great difference by contributing even in a 

minor way. I’ve seen how desperately in need of assistance TSA 

is and I look forward to this partnership having a positive impact 

on families and their communities affected by TSC.” 

We’d like to thank Baker McKenzie for choosing to partner 

with TSA and look forward to working together to improve the 

lives of individuals living with TSC. 

If your 

workplace, small 

or large, supports 

charities please talk to 

them about TSA’s work. 

The TSA team is ready to put 

forward our case for support 

and ideas for how they can 

get involved. You could 

be the inspiration they 

need to choose us. 

TSC CONNECT 

A weekend event for adults living with TSC 

Translational Research Institute of Australia, Brisbane, 25 and 26 May 2019 

If you are an adult with TSC, we invite you to join us for our first event just for you. 

Come along to learn from experts, connect with others and grow our TSC community. 

Travel funding available for people with TSC and a support person. 

Visit www.tsa.org.au/TSCConnect-2019 

or call 1300 733 435 for more information

Personal Stories 

Celebrations 

Tony, who has TSC, has aspirations of being 

on television. He enjoys dancing and drawing, 

particularly portraits of celebrities. 

Tony’s sketch of 

Harrison Ford 

Making the most of his opportunities 

Kam Ian Lee, 20 December 1975 – 14 December 2018 

Our thoughts are with Gary, Elvie and Tamatha Lee as they adjust to life 

without their son and brother Kam. Kam lived in Victoria with TSC, loved 

music, cricket and AFL. Those who knew Kam remember him as cheeky, 

funny and a gentle giant who would do anything for a full-strength Coke. 

In recognition of the support TSA has provided their family, particularly 

in Kam’s early years, the Lee family and friends donated a total of $620 in 

memory of Kam. Thank you for your generous gifts. 

12 





Here’s Hamish at his camp over the summer holidays. Three nights 

away and he had a ball. Thanks to his amazing carers he even 

overcame his horror of sand! 

Parker has been medicine free for seven months so far with no seizures 

or significant increase in his growths! 

This is Josh who turned nine earlier this year. Seven years ago Josh had a liver 

transplant and is going super strong! He may not make huge milestones, but each 

little one is huge to us, including pulling up his pants and keeping clothes on! 

His biggest achievement though, is organ donation, and changing people’s minds 

about becoming an organ donor. His cheeky smile melts most hearts and his 

bouncy personality always lands him centre of attention. 

Want to share your 

achievements with the 

TSC community? 

Email reachout@tsa.org.au 

with your celebrations. 

13


Just Between Us 

New diagnosis 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 being first diagnosed with TSC. 

14 

“Something has been 

found on the scan” 

Jeremy, NSW 

It took my wife Michelle and I nearly two years to fall pregnant 

with our son Oliver. We were so excited when we found out about 

the pregnancy, even though this meant we had to quickly rearrange 

the dates of the round-the-world trip we had just booked! 

I can clearly remember the day we started on this roller 

coaster with tuberous sclerosis complex (TSC). It was a Friday. 

In the middle of our 28-week scan the sonographer stopped and 

consulted a large book. We did not know what was going on 

and we were possibly a little naïve as, up until that day, nothing 

unusual had been picked up. After she left the room and came 

back, we were told that the obstetrician would see us immediately. 

He said: “Something has been found on the scan. We are not 

sure exactly what it means but I have booked you in to see the 

cardiologist at the Children’s Hospital on Monday.” 

I remember us both being like deer in the headlights 

that weekend. 

On Monday the cardiologist did another scan and said: “We 

suspect it is tuberous sclerosis and we will arrange for the genetics 

team to see you in an hour.” 

The geneticist told us not to worry too much and that they 

would confirm the diagnosis with a genetic test after our baby was 

born. We decided not to tell anyone about the tumours or about 

TSC until we were 100% confident of the diagnosis. 

We were in a haze. The whole experience was a blur. Of course, 

despite being told not to, my wife and I researched TSC online and 

we both reacted differently to all the information we found. I was 

able to understand that many of the stories I read were ‘worst case 

scenarios’ and that we would have to monitor our baby to look 

out for these different issues. Michelle found these stories caused 

anxiety and uncertainty. It was important for me to understand 

the causes, mechanisms and statistics of TSC. Michelle was 

more focussed on the emotions. I think these two approaches 

complemented each other. 

Despite being nervous about all of this, we were still excited to 

have a child on the way. Because of the suspicion of TSC, Michelle 

was flagged as a high risk pregnancy, meaning we had more 

monitoring during the rest of the pregnancy and the plan was 

made to deliver our baby by caesarean section. Oliver was born 

and was perfect weight and length. 

When Oliver was six weeks old he had his first MRI, and blood 

was taken for genetic testing from Oliver, Michelle and myself. 



Oliver having his heart monitored 

The whole experience was a 

blur. Of course, despite being told not 

to, my wife and I researched TSC online 

and we both reacted differently to all 

the information we found. I was able 

to understand that many of the stories 

I read were ‘worst case scenarios’ and 

that we would have to monitor our 

baby to look out for these different 

issues. Michelle found these stories 

caused anxiety and uncertainty. 



The result came back when Oliver was six months old and 

confirmed that he had a mutation on his TSC2 gene and that 

neither Michelle nor I have this mutation. 

We made the decision to start telling our friends and family 

what was going on. It had been difficult to go back and forth to the 

Children’s Hospital without our family knowing. We were glad 

that our family was able to get to know Oliver as a normal child, 

without constantly thinking of seizures, TSC and special needs. 

We explained that Oliver had TSC but we were unsure what impact 

it would have on his life. We wanted to be confident in our own 

TSC knowledge to be able to answer their questions and not have 

to send them on an internet search. 

As the months went by, Oliver started to miss some of his 

milestones. This was very noticeable as close friends of ours had a 

baby born on the same day as Oliver and his cousin was born only 

six months later, so these other babies were a bit of a benchmark 

for us. This delay meant Oliver started seeing a team of therapists – 

occupational and speech particularly. 

Oliver was started early on epilepsy medication as a baby, 

after his EEG test showed some seizure activity. After a while, we 

started to wean him off that medication. I can still remember his 

first noticeable seizure when he was two years old. I was walking 

with him in the city and he stumbled and fell. After I picked him 

up he fell straight to sleep. At first we were freaking out and trying 

to follow the neurologist’s instructions to video each seizure. It got 

easier to automatically take out our phones and record seizures and 

email the videos to the neurologist. 

We found it a challenge to educate his day care team on his 

seizure management plan. As soon as we felt like the team was 

familiar with his seizures and the process, there would be a staff 

change and we’d have to start with a new team member. By 

the time Oliver started school we were very skilled at this and 

could quickly adapt the information we provided to suit the new 

situation and Oliver’s needs. 

When I look back at our lives before we ever heard about TSC, 

I think we had blinkers on. Once we were told our baby may have 

this serious condition, I started to see what others were going 

through particularly with children with epilepsy, autism and 

learning delays. I had previously never really thought about the 

day to day lives of people but now the blinkers were off, I started to 

ask questions about how we would get what we needed for Oliver. 

One example of this is Brainwave. Through Tuberous Sclerosis 

Australia we found out about Brainwave and we have since been 

involved in their camps and activities and met many other families 

with children with a neurological condition. 

If I had the chance to write a letter and send it through time 

to myself back when Oliver was diagnosed, I would tell myself 

not to stress. Despite the challenges that are in your future, you 

will still enjoy the journey. You have a lot to learn but your child 

is really not any different to any other child. He will have his own 

personality and he will take so much joy from life. Treat your child 

like a normal child. Don’t look too far into the future because you 

risk missing out on the successes of the present. 

We have given Oliver as normal a life as possible. He loves both 

exploring the outdoors and watching sport with me on the couch. 

He loves planes, trains and cars and asks ‘why?’ constantly. He 

does have some delays and attends school in a support unit with 

just five other peers. He still goes to the library and chooses the 

books he wants to borrow. While he can’t read the books properly 

yet, he enjoys telling us what is on each page. He is a typical seven 

year old and has all the attitude that comes with that. 

Oliver during a prenatal scan 

15


“She was my third child so I thought I knew 

what to expect” 

Dawn, ACT 

My daughter Emily has tuberous sclerosis complex (TSC) 

and turns 18 this year. 

Emily was my third child so I thought I knew what to expect. 

When I was pregnant, living on the NSW far south coast, I would 

feel my stomach shudder and shake violently and told the doctors 

something wasn’t right. After Emily was born, doctors suggested 

I had ‘new mother issues’ or that Emily was ‘growing into her 

nervous system’. Emily stopped meeting milestones at around 

three months of age. This coincided with us starting to notice 

infantile spasms which first started as high pitched squealing 

and unusual body movements. This was seventeen years ago and it 

took a lot to convince the doctors that something was wrong. When 

Emily was four months old we first saw our paediatrician and he 

immediately knew exactly what was going on, but we had to wait until 

she was seven months before she had her official diagnosis of TSC. 

The specialists handed me an old copy of the TSA newsletter 

and said ‘good luck’. From there it was up to us to navigate it all. 

The first person I spoke to was a TSA volunteer and if it wasn’t for 

her pep talk, we wouldn’t be where we are today. She let me have 

a ‘grizzle’ on the phone and let me feel sorry for myself and then 

basically said, “Are you finished?” Then she told me how it could 

be and what I had to do to find the answers to give Emily a great 

life as a functioning member of society. I found hearing about this 

other family’s experience then, and for the years that followed, 

helped us understand what to expect, as they had an older daughter 

who was very similar to Emily in many ways. Through this phone 

call, we lost our fear and found our fight. 

What followed was a whirlwind of finding out how TSC 

was going to manifest in Emily. At that time there was no DNA 

testing for TSC, but we have since participated in a research study 

that found a mutation on her TSC2 gene. We know now that 

Emily ticks all the boxes for TSC signs and symptoms, including 

subependymal giant cell astrocytomas in her brain, kidney 

angiomyolipomas and polycystic kidney disease. 

Throughout Emily’s childhood we have travelled from our 

home to the Sydney Children’s Hospital and then moved to the 

16 





Emily stopped meeting 

milestones at around three months 

of age. This coincided with us starting 

to notice infantile spasms which first 

started as high pitched squealing and 

unusual body movements. This was 

seventeen years ago and it took a lot 

to convince the doctors that something 

was wrong. 

Sydney TSC clinic team when Emily was a teenager. 

Moving into the clinic was the best decision as we 

now have access to deep expertise and we like to 

help the others through that clinic as well. 

Emily has a superior intelligence that we 

just don’t understand. She has a wicked sense 

of humour, better than many world-famous 

comedians. She brings us out of our worst 

moments with her ‘never say die’ attitude. I think 

of Emily as being too good for this world, although 

we do bring her down a few pegs when she pretends 

she can’t dress herself or feed herself as she often 

does with a new support worker. And she beats me 

at Fruit Ninja, a game she plays on her iPad! 

I have found that Emily’s biggest disability is 

often me. When I do too much for her, Emily’s 

abilities go down. I had to step back and say I am 

not the best person to teach her or care for her. I 

have had to trust in the education system and focus 

on ‘driving the system’ to deliver the best outcomes 

for her. For example, I am advocating for Emily 

to get the best possible funding packing through 

the National Disability Insurance Scheme so she 

can meet her goal of living independently, with 

support, by the age of 25. I have had to learn that 

I am not the best person to guide Emily through 

life. It takes a whole village to raise a girl like Emily. 

She needs a lot of brains to help her navigate this 

world, rather than me just muddling through. So I 

focus on getting the right people around her to help 

Emily be the best Emily she can be. 

Emily has TSC, but it doesn’t define her. TSC is 

what she has, but it is not who she is. 

17


“He definitely doesn’t have it” 

Miriam, Tasmania 

My son Caleb was diagnosed last year with tuberous sclerosis 

complex (TSC). His diagnosis story is a little unusual 

and includes a heart condition that the doctors still believe is 

unrelated to his TSC. 

Our first child Jemima had never been sick, so I had no 

experiences with having a sick child until Caleb was five months 

old. I went to the doctor five times that week, I knew something 

was not right. Caleb started vomiting, stopped sleeping and had 

dark circles under his eyes. Eventually we went to the emergency 

department, and were told there was possibly something 

wrong with his heart. We followed this up with our GP, then a 

paediatrician and finally saw a cardiologist. We were shocked when 

he was diagnosed with a serious heart condition, coarctation of 

the aorta. This would require surgery as soon as possible. He had 

surgery when he was just eight months old, followed by ongoing 

monitoring of his heart condition. 

In February 2018, when Caleb was seven, we were told he 

needed further surgery. He now had severe aortic stenosis and 

a subaortic membrane. In May 2018 he underwent open heart 

surgery to repair his valve at the Royal Children’s Hospital in 

Melbourne. This surgery was a success. 

After this surgery, Caleb went back to school just one hour 

per day while he was recovering. One day, Caleb went to school 

as usual, but I got a call saying Caleb had fallen. I picked him up 

from school as we were worried about his chest being hurt. Caleb 

was very upset and vomiting and complaining of a headache. 

Thinking we were overreacting, we still decided to take him to 

hospital to make sure his heart was OK. Tests for his heart showed 

Caleb and his 

brother Finlay 

Caleb following his 

brain surgery 

no problems and we were not thinking that anything else could be 

wrong. Two days of tests and observations and Caleb was lethargic 

and sleepy, and then screaming and holding his head when he was 

awake. I knew something was not right. 

A CT scan was done at 6.30pm on a Friday night and straight 

away we were pushed out of the room and doctors were everywhere. 

It was like a TV show. We were told about the bleed in his brain 

and that they had found a large brain tumour. We were all quite 

confused because we thought we had a child with a heart condition. 

It was too dangerous to transfer him to Melbourne and emergency 

surgery was required immediately to put in two drains to relieve 

the pressure on his brain. We had two days in intensive care as the 

doctors waited for the aspirin Caleb was taking for his heart to come 

out of his blood stream before they could operate on the tumour. 

Caleb then had a ten hour operation to remove the tumour. 

This was longest day of our life. He came out of the anaesthetic 

calling for me, which was incredible. He was recovering really 

well while we waited for a diagnosis of the tumour. At this stage 

we didn’t know if the tumour was benign or malignant, and there 

were numerous delays in receiving the results. We eventually 

were told that it was benign but they still didn’t know what it was. 

Finally it was confirmed that it was a subependymal giant cell 

astrocytoma. I remember asking for the spelling so I could add 

it to our long list of technical terms. This is when I first heard of 

TSC. They said to us: “There’s a rare genetic disorder that Caleb 

definitely doesn’t have that this tumour is associated with.” I 

disregarded this at the time because we had so many other things 

going on. I am so glad I asked about it before we were discharged so 

I had ‘tuberous sclerosis’ written down. 

After a while, I did what they all tell you not to and I googled 

tuberous sclerosis. It was the information on Tuberous Sclerosis 

Australia’s website that helped me realise Caleb had some of the 

skin signs of TSC, including depigmented areas of skin, small 

angiofibromas. I stopped when I knew I didn’t want to know 

anything else just yet. 

When I raised my concerns about possible symptoms I was 

told again that he did not have TSC. I believe they ruled this out 

because he didn’t have an intellectual disability and had never had 

seizures. I felt uncomfortable because I knew these people were 

the experts. I continued to push and eventually one of his doctors 

agreed to do a genetic test for TSC, which would take six weeks to 

come back. We had to put aside all our questions about TSC while 

we waited for the test results. 

I was very careful in those six weeks. I read the information 

pages from Tuberous Sclerosis Australia (TSA) because there were 

very factual and not alarmist. When the results came back, Caleb’s 

oncologist read the report and said: “Oh yeah, he’s got it”. That was it. 

We were devastated and in shock. We both cried a lot that 

night. They still think his heart condition is unrelated to the TSC, 

and we were unsure what it meant to have a child with both TSC 

and this heart condition. 

We learnt how to pronounce ‘tuberous sclerosis’ and started 

telling family, friends and the kids. This was hard. I found myself 

saying: “He’s got this condition, but it’s all OK.” I really tried 

to downplay it. We told Caleb, aged eight, that he had tuberous 

18 





Caleb with his family at the beach 

They told us the name of 

the tumour. It was a subependymal 

giant cell astrocytoma. I remember 

asking them to spell it for me so 

I could add it to our long list of 

technical terms. This is when I 

first heard of TSC. They said to us: 

“There’s a rare genetic disorder 

that Caleb definitely doesn’t 

have that this tumour is 

associated with.” 

sclerosis and he laughed as he tried to say it, so we broke it into 

syllables. I explained that it would mean lots of doctors and lots of 

tests and that was why he has all the marks on his skin and why he 

got his brain tumour. He’s pretty proud of his scars already. He’s 

been really fine with it. We told his siblings and they’ve reminded 

us how resilient kids can be. 

We asked what happens next and were told they didn’t know 

a lot about TSC and to just continue as normal. Thankfully, I was 

already familiar with the surveillance guidelines because of TSA’s 

informative website. When I first went over the checklist of what 

tests Caleb needed, it was the first time I felt I had a little bit of 

control over what was happening. We knew we needed to get an MRI 

of Caleb’s brain and kidneys and have other tests. I knew I had to be 

Caleb’s advocate. It did get exhausting at times constantly having to 

push for things to happen. 

We were referred to a great paediatrician, but she said: “You’re 

lucky he’s so mildly affected”. I agree in some ways we are lucky, 

but discovering a brain tumour three weeks after open heart 

surgery felt far from lucky. 

I do feel I have to be constantly vigilant and have to keep gently 

pushing for things such as a script for topical rapamycin. The 

resources and research papers on TSA’s website have been so useful 

for these conversations. I don’t want to be that nagging person, 

but I do have to keep advocating for what is best for Caleb. We are 

getting into the routine of all the tests that Caleb needs to have. It 

is our new reality. 

Taking on the coordination of Caleb’s care was a big job. When 

I told my Mum about tuberous sclerosis she was relieved, saying: 

“So that means someone else will run this now. You won’t need 

to keep doing what you have been doing for him.” The reality, we 

know now, is that coordinating Caleb’s health care still falls to 

me. Doctors are extremely busy people caring for many patients. 

Patience and educating myself more and more about TSC has 

helped through the frustrating times when we have had to ask for 

certain tests to be done or chase up referrals. 

Caleb is a talented gymnast and member of the junior 

development squad at our local gymnastics centre training nine 

hours per week. He had a long time off training after his heart and 

then brain surgery. On his first day back at training I cried and 

cried, possibly the hardest I have cried through this whole thing. 

I think I was a bit numb and removed at other times. But when I 

saw him running down and getting on the rings – it was amazing. 

I never cease to be amazed at what he can do with all that he has 

been through. 

As a family, we enjoy taking our boat out and fishing and 

camping. Everyone said to us that after the year we had we should 

plan a holiday. We did go away together camping over summer but 

not too far from a hospital! 

There’s a big journey ahead, but we will deal with each thing 

as it comes. Thinking about everything all in one go is too much. 

My emotions sometimes catch me unawares, but at other times I 

can talk about TSC without getting emotional. Our family made 

donations to TSA last Christmas and it was the first time my 

husband and I felt like we were doing something positive. It was a 

lovely way to end the year and we look forward to doing this gift 

giving each year with our family at Christmas. 

We have written at home: “You never know how strong you 

are until being strong is the only choice you have”. TSC is our new 

normal now. It’s our new reality and we will be OK. 

19

Information 

Issues in 

TAND 

Clare Stuart 

TAND stands for ‘tuberous sclerosis associated 

neuropsychiatric disorders’ and includes the challenges 

that people with tuberous sclerosis complex (TSC) have with 

behaviour, mental health, learning, autism, brain skills, attention 

and intellectual disabilities. 

In 2018, Tuberous Sclerosis Australia (TSA) held 

‘Understanding TAND’ events in three Australian cities with 

international expert in TAND, Professor Petrus de Vries, from the 

University of Cape Town South Africa. 

As a part of these events, we explored three questions: 

• Which aspects of TAND have the biggest impact on the lives 

of people with TSC? 

• What resources, such as professionals, organisations and 

treatments, are helpful? 

• What are the biggest gaps where we can help the Australian 

TSC community with the challenges of TAND? 

In this article, we summarise some of the issues that emerged 

in these discussions with the diverse group of participants at 

these events along with Australian professionals. We also held a 

discussion on TAND at our 2017 Melbourne TSC Information Day. 

You can read an overview of TAND, including downloading the 

TAND checklist screening tool, on our TAND information page at: 

www.tsa.org.au/information/tand 

One of the challenges 

people with TSC experience is 

seeking a diagnosis for various 

aspects of TAND 

The uniqueness of TAND 

The one common theme of discussions at our events was that each 

person with TSC is different. Research into TAND has also shown 

that each person with TSC has a unique profile of aspects of TAND 

that affect them. Another challenge people with TSC find is the 

way an individual’s TAND profile changes throughout their life. 

Using the TAND checklist and regular assessments, particularly at 

key developmental and life stages, can help to stay on top of issues. 

To label or not to label? 

One of the challenges people with TSC experience is seeking a 

diagnosis for various aspects of TAND. A diagnosis, such as autism 

or attention deficit and hyperactivity disorder (ADHD), may be 

helpful to understand the person with TSC and also to access 

therapies and funding for these therapies. 

Sometimes TAND challenges will be overshadowed by the 

diagnosis of TSC, and professionals will consider the symptoms 

to be just part of TSC and not a separate diagnosis. Sometimes 

professionals will be particularly reluctant to diagnose because they 

know labels can be difficult to remove once they are given. If the child 

has a developmental delay, the professional may be unsure whether 

the challenges, for example with communication, are related to the 

developmental delay or if they will continue separately from the delay. 

But we know that people with TSC are at significant risk of 

various aspects of TAND, including autism, attention deficit 

hyperactivity disorder (ADHD) and learning disabilities. This 

means that they are likely to benefit from early intervention and 

often a diagnosis is required to access appropriate interventions. 

One Australian expert suggested that red flags for autism can be 

useful to trigger a detailed assessment for autism. Child Health 

Queensland has a useful list at: 

www.childrens.health.qld.gov.au/wp-content/uploads/PDF/ 

red-flags-a3.pdf 

Attention and impulse control challenges 

and interventions 

Many people with TSC experience difficulties with sustaining 

attention, hyperactivity and controlling impulses. Many people 

with TSC find movement breaks are a relatively simple strategy 

that can help hugely in the classroom or at work. 

Professionals recommend that, when these challenges meet the 

criteria for ADHD, medication can be a useful tool in combination 

with other interventions and strategies. 

A paediatrician is the best starting point for assessment of ADHD 

in children. In adults, this process will usually start with a psychiatrist. 

Understanding challenging behaviours 

All groups spoke about challenging behaviours, including 

aggression, as a major impact of TAND on the person with 

TSC and their family. Discussions identified both anxiety and 

difficulties with impulse control as a possible underlying cause of 

these behaviours. 

To help with behaviours that challenge the person with TSC 

or those around them, many ideas were shared at our events. One 

place to start is to try to understand the meaning or function of the 

behaviour. One tool to help with this is called the ABC approach, 

which stands for: 

• Antecedents (what happened before the behaviour?) 

• Behaviour (what is the actual behaviour?) 

• Consequences (what happens afterward?) 

There is more information about this approach at: 

www.synapse.org.au/information-services/abc-approach-tounderstanding-behaviour 

The developmental behaviour checklist can be a useful tool for 

professionals to assist with diagnosis and for monitoring interventions. 

20 




Personal Information Stories 

For young children, there are a group of interventions called 

naturalistic behavioural interventions. These involve shared 

control between the therapist and parent. They often take place 

within the home environment and are generally more flexible than 

other more structured approaches. 

TAND at school 

Choosing the right school and securing the required supports is a 

challenge many families with a child with TSC face. Many families 

choose a mainstream school for their child who may have specific 

learning difficulties or delays, but report significant struggles to 

secure and keep additional classroom supports. 

When choosing a school, one TSC family reported that they 

chose the school based on the ‘feeling’ of the school community 

and how collaborative they were with parents. A school that 

has access to allied health professionals, such as occupational 

therapists, to work in the classroom can also be a big benefit for 

some children with TSC. It can also be helpful to advocate for your 

child to be taught by more experienced teachers and to build a 

trusting relationship with these teachers. 

In the classroom, a student with TSC may struggle because 

of their uneven TAND profile. Teachers may believe a student is 

being lazy because they are able to do complex work in one subject 

but not in another. We know from formal research into TAND 

One of the hardest parts of 

TAND is finding the professionals who 

can provide the required assessments 

and interventions. 

that people with TSC can have very specific difficulties, such as 

with mathematics, written expression or working memory. This is 

one reason that a detailed assessment, that builds a profile of both 

strengths and weaknesses, can be so valuable. 

Some adults with TSC report that they benefited from 

additional help to develop skills that did not come as easily to them 

as their peers. Even into adulthood, it is not too late to work on an 

area of weakness. 

School counsellors are often the gateway to cognitive and 

academic assessment. However, many school counsellors and 

teachers have limited understanding of TSC and TAND so may not 

refer appropriately. 

The Tuberous Sclerosis Alliance (USA) has a package of 

information for teachers that can help to explain TSC. TSA has 

identified a detailed resource for Australian educators as a project 

we would like to develop and this project will be one of our 

fundraising goals for 2019. 

Lifelong mental health support 

The challenges of TAND start right from the moment of diagnosis 

and this life-changing event can be traumatic. TSA is working 

with the nib foundation, TSC families and health professionals to 

reduce this trauma and encourage parents and people with TSC to 

seek mental health support through our, soon-to-be-developed, 

‘Parachute Pack’. 

Your GP is the best place to start and can work with you 

to develop and monitor a mental health care plan. Significant 

research supports the use of talk therapies with a skilled 

psychologist. Talk therapy is also possible for a person with 

intellectual disability or communication challenges, but will 

require a professional with specific skills. 

For children, there are public health services, including mental 

health supports, that your GP or paediatrician can refer you to. For 

example, in NSW, we have the Child and Adolescent Mental Health 

Service (CAMHS). 

Medication can be useful for severe anxiety and depression, 

specifically the class of medications called selective serotonin 

reuptake inhibitors. 

Finding and funding for the right professionals 

One of the hardest parts of TAND is finding the professionals 

who can provide the required assessments and interventions. 

Neuropsychologists and neuropsychiatrists can be particularly 

useful for assessments and appropriate interventions for 

individuals with complex medical conditions. 

Talking to other people who experience similar difficulties, 

such as others with TSC, can help to identify the most appropriate 

professionals to help. In the future, expanding the TSC 

Professionals Network, maintained by TSA, could be a way to 

identify these professionals. 

One TSC family found that they needed to use private services 

when the public early intervention options proved to be unsuitable. 

“When our son was first diagnosed with TSC, we were 

referred to our local area health service for therapy. While physical 

therapy was great, we got a different student speech therapist each 

appointment and they just weren’t responsive to our son’s needs. 

We have had to pay for private therapy, some of which was funded 

by Medicare and our private health fund. Since then we have used 

a package of funds from the federal government and recently 

transitioned onto an National Disability Insurance Scheme (NDIS) 

package that covers our son’s intensive therapy,” says Jeremy. 

The NDIS is commonly used to access supports for TAND, 

but this is usually not an easy or straightforward process. Many 

TSC families have found talking to others living with TSC and 

related conditions can help them navigate the eligibility and 

planning processes. The TSC Information Service can help to 

connect you with others in the TSC community and with advocacy 

organisations in your area. 

The future for TAND 

The global TSC community has consistently ranked TAND as 

collectively the aspect of TSC that impacts their lives the most. 

TSC organisations, health professionals and research funding 

bodies are responding to this. For example, The King Baudouin 

Foundation in Belgium has set aside 600,000 euros for research 

into TAND. The largest TSC patient organisation, the Tuberous 

Sclerosis Alliance (USA), has commenced a TAND initiative 

including patient information, health professional education and 

research projects. 

The TAND checklist has been rolled out in various clinical 

settings since it was first published in 2015. TAND experts are 

reviewing the guidelines for TAND screening and responding 

to calls for the checklist to be self-administered. They are also 

considering development of a practical TAND toolkit to help 

people with TSC identify the strategies and interventions that can 

help them live with their unique TAND challenges. 

21

Fundraising 

Snapshot 

Did you know TSA doesn’t receive any government funding to provide our 

information and support services? We depend on donations and fundraising 

from our TSC community. 

Thank you to all our generous supporters around Australia who help make our 

work possible. We’d love you to get involved and support TSA, if you don’t 

already. You can make a big difference to our work – we need funding to 

continue to help and support you, our TSC families. Please call us to discuss 

how you can get involved on 1300 733 435 or email kate.garrard@tsa.org.au 

Comedy for a Cure comes to Australia 

Our friends at TS Alliance in the USA have raised millions of dollars for TSC 

research over the years with their Comedy for a Cure events and now Australia 

has joined the fun. Almost 100 people joined us for our premiere Comedy for a Cure 

in Melbourne on 26 October 2018 at the Athenaeum Theatre. We were entertained by 

some very funny comedians and raised over $12,000 for research into TSC. Thank you 

to everyone who attended our event, donated prizes, bid on auction items, purchased 

raffle tickets, and made donations. Special thanks to the dedicated fundraising 

committee, Bridie for sharing her story, the team at the Athenaeum 

Theatre for donating the venue and to Bendigo Bank for their generous 

donation. In 2019 Comedy for a Cure will be held in Sydney and will 

return to Melbourne in 2020. 

Comedian Josh Earl 

Another successful Christmas appeal 

A 

massive thank you to everyone in our TSC community who so generously 

supported our Christmas appeal last year. Gorgeous little Felix and Caleb helped 

us spread our message and we thank their lovely families for sharing their photos and 

stories with us. Over $5,000 was donated to help fund our TSC Information Service. 

This will greatly assist us in our work helping individuals and families affected by TSC. 

Felix and Family 

Meet our new TSC Heroes 

Edwina signed up as a TSC Hero in Manly’s Cole Classic swim in February. She was a bit 

nervous, as it was her first ocean swim since having children, but did a fantastic job and 

swam one kilometre and raised over $5,000. Edwina was inspired to support TSA in honour 

of her godson Sammy who was recently diagnosed with TSC. On behalf of Sammy, his 

family and all our TSC families we thank you. 

Martin is climbing Mt Everest in April and raising funds for TSA. He has been inspired 

to help people with TSC because his sister has TSC. He has already raised over $3,000 and is 

hoping his employer will match every dollar he raises. Fantastic effort – thank you so much! 

22 




Fundraising 

Melissa after running the City2Surf 

TSC Hero Melissa is still 

running for TSA 

So far our TSC Hero Melissa has raised over 

$1,000 for TSA. In May she is participating 

in Perth’s Run for a Reason to once again raise 

funds and awareness for families affected 

by TSC. Melissa is actively encouraging her 

friends and colleagues to get involved too – 

what a hero! Thank you Melissa. 

#Heroes4Katalina 

To celebrate Katalina’s first birthday, Boris 

and Kirsten asked their family and friends 

to donate to TSA in lieu of giving presents. 

We are delighted to share that over $770 

was donated in honour of little Katalina to 

celebrate this special occasion. Thank you so 

much and happy first birthday Katalina! 

If you’ve got a special occasion coming up 

and have been thinking about supporting TSA, 

we’d love to help create an Imagine poster for 

your child. It’s a great way to inspire your family 

and friends to come together to help TSA. 

Thank you to the Disabled 

Children’s Foundation 

Good news for parents with a school 

aged child with TSC. TSA received 

$3,000 from the Disabled Children’s 

Foundation towards our goal to create a TSC 

educational resource for schools. We still 

need to raise another $15,000 to make this 

project possible, but we are just delighted 

to have this organisation supporting our 

work. Thank you to the team at the Disabled 

Children’s Foundation. 

Kristie-Lee with her sister Rachel 

Kristie-Lee raises $1,460 for TSA 

Recently Kristie-Lee celebrated her birthday and, instead of 

receiving gifts, she asked her family and friends to donate 

to TSA via a Facebook fundraising campaign. Kristie-Lee was 

inspired to support TSA because her sister Rachel lives with TSC. 

We are delighted to share that she raised $1,460. What a wonderful 

gift for people living with TSC. Thank you so much Kristie-Lee 

and happy birthday! 

Join our team of TSC Heroes 

Do you know someone with TSC and like to run, walk, swim, cycle? 

Why not join our TSC Hero team and participate in a fun run, 

marathon or triathlon as a tribute to the person you know with TSC? 

#Heroes4Zarah have helped inspire over $100,000 in donations for 

TSA through TSC Heroes events since 2011. 

Our TSC Hero teams are located all around the country raising 

vital funds for TSA. It’s easy – find an event in your city, then engage 

with your family and friends to make donations, and we’ll send you a 

free TSC Heroes T-shirt. 

Follow @TSCHeroes on Facebook or check out our website for 

more information. 

Thanks to our Heroes and their supporters we will be able to grow 

and enhance our services for people living with TSC. There is so much 

more we want to do but we can’t do it without you. 

Upcoming Fundraising Events 

15 May 2019: TSC Global Awareness Day 

and #Tatts4TSC 

19 May 2019: TSC Hero event: Run for a 

Reason Perth 

27 July 2019: Christmas in July fundraiser at 

Padstow Bowling and Snooker Club 

28 July 2019: TSC Hero event: Run Melbourne 

11 August 2019: TSC Hero event: City2Surf Sydney 

25 August 1019: TSC Hero event: Bridge2Brisbane 

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

IS COMING TO SYDNEY! 

We are thrilled that Comedy for a Cure will be held 

in Sydney in October 2019 

Can you help it be a 

smashing success? 

We are looking for people to donate prizes and rally their family 

and friends to come along and support the event. 

This event has been inspired by our friends at Tuberous Sclerosis 

Alliance in the USA whose Comedy for a Cure has been a 

hugely successful fundraiser and raised over $4 million since its 

inception in 2002. 

Last year was our inaugural Australian Comedy for a Cure event 

in Melbourne. It was a fantastic night of laughter and hope with 

over $12,000 raised. 

Now is your chance to get involved in helping this be a great 

event for people with TSC. Contact Kate to register your interest 

kate.garrard@tsa.org.au or 0434 391 430. 

www.comedyforacure.org.au

Reach Out April 2019

Create successful ePaper yourself

Delete template?

Save as template?