Reach Out April 2018

Reach 

Out 

Remembering 

Loren & Tonya 

Fundraising – p21 

Can you help? 

p22 

APRIL 2018 ISSUE 107 

Our Sibling 

Stories p12 

www.tsa.org.au

TSA News 

Contents 

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

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

Proposed Constitutional Changes...................................................... 5 

Notice of Annual General Meeting.................................................... 5 

Meet Kate - TSA’s Fundraising Lead................................................... 6 

TSC Global Awareness Day - #Tatts4TSC.......................................... 7 

Celebrations - Back to School...........................................................8-9 

Sibling Stories................................................................................. 10-15 

Siblings: The Longest Relationship.............................................. 16-18 

A New Resource to Explain TSC to Children..................................19 

Life Expectancy for People with TSC................................................19 

Research News...............................................................................20-21 

Remembering Loren & Tonya...........................................................21 

Fundraising Snapshot...................................................................22-23 

Our cover image is of Lachlan and Cooper Herbert. You can read Cooper’s story on page 11. Thank you to 

Christy and Scott for sharing this photo of your beautiful boys. 

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 Vacant 

Committee Members 

Treasurer Patrick Norris 

Secretary Alison McIvor 

Adish Chandra 

Georgina Schilg 

Michael Jones 

Michelle Purkiss 

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 



APRIL 2018 ISSUE 107

TSA News 

Editorial 

Teresa Llewellyn-Evans 

This edition of Reach Out highlights what 

it is like to be a sibling of a brother 

of sister with tuberous sclerosis complex 

(TSC). Five siblings - Clare, Cooper, 

Belinda, Danny and Elise - share their 

stories of having a brother or sister with 

TSC from page 10. Their stories show the 

profound effect their sibling with TSC has had 

on them, and continues to have, even after they 

may have passed away. I know that I experienced a 

range of emotions when I read these stories. Your response 

will depend on your own family’s story and you may find their 

stories, in turn, confronting, moving, reassuring or inspiring. 

Our sibling stories are followed by an interview with 

Kate Strohm, Director of Siblings Australia. Kate helps us 

understand the most common emotions which come up 

fairly regularly in her work with siblings. Parents can let their 

children know it is ok to have a mix of feelings towards their 

brother and sister. Parents can encourage and help siblings 

express their mix of complicated thoughts and feelings. In the 

same way that parents find it helpful to have contact with other 

parents who understand, many siblings find it helpful to make 

contact with other siblings. Information is also important and 

siblings need information at a level appropriate to their age and 

development. The article also identifies a range of supports for 

siblings, including Facebook groups, access to mental health 

plans through GPs and other helpful resources, but services for 

siblings on the whole are still very ‘hit and miss’. 

President Debbie Crosby reflects on Rare Diseases Day and 

the pressing need for the TSC community to work together 

with TSA to secure our long term financial future. Businesses 

and individuals donate to organisations because 

they are inspired to help the people directly 

impacted by their work. We need your 

help to help secure TSA’s ability to deliver 

services and fund important research 

projects such as the early intervention 

project for babies with TSC. 

We meet Kate Garrad, TSA’s 

Fundraising Lead, on page 6. Kate believes 

that the biggest opportunities for support 

will come from inside our TSC community and 

shares some practical ways you can help. 

TSA’s Annual General Meeting (AGM) will occur 

on 22 September. Read about the proposed changes to TSA’s 

constitution that will be voted on at the AGM on page 5. We 

also remember two incredible health professionals who made 

their mark on the global TSC community, Loren Leciezio and 

Tonya Kara, on page 5. 

We celebrate children starting back at school this year 

on pages 8 to 9. TSA has been working on some exciting 

new information resources. Read about the little book 

Tuberous Sclerosis Complex for primary school children and 

information pages on Life Expectancy for People with TSC on 

page 19. Clare has also compiled the latest in research news 

on page 20 including how to make a diagnosis of TSC before 

seizures, Everolimus for younger children with TSC, and how 

much people with TSC really know about the kidney issues 

in TSC. 

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 

Welcome to another amazing 

edition of Reach Out. I am 

writing this on Rare Disease Day and 

am reminded why it is important to 

have days like today to acknowledge the 

many people who live with rare diseases. 

Even though these diseases are classified 

as rare, they affect approximately two 

million Australians. Tuberous sclerosis 

complex (TSC) is one of 8,000 known 

rare diseases and is estimated to affect 

2,500 people in Australia. Tuberous 

Sclerosis Australia (TSA) has been 

involved in shaping the Fair for Rare 

campaign from Rare Voices Australia 

that articulates six strategic priorities: 

research, access to services, access to 

treatments, coordinated care, data 

collection and diagnosis. TSA’s work, in 

partnership with our TSC Professionals 

Network, addresses many of these 

priorities. We look forward to being part 

of continued collaborations that will 

improve the lives of all people living with 

rare diseases. 

Over the last few years TSA has 

achieved a lot, including supporting 

TSC research, running education events 

around Australia and providing quality 

TSC information to thousands of people. 

Much of this has been the result of the 

wonderful support and dedicated efforts 

of our TSC community. But there is so 

much more we want to do to tackle the 

challenges of TSC. 

We are working hard to secure 

funding and grants from a variety of 

sources, but this is difficult for a small 

organisation like ours. Now, more than 

ever, we are calling on you to work with 

us. It is your stories and your connections 

that can open doors for us. Businesses 

and individuals donate to organisations 

because they are inspired to help the 

people directly impacted by their work. 

We need your help to inspire people 

to support our work. We can’t do this 

without you. We want TSA to be around 

for the long term, continuing to support 

you and your families well into the 

future, so we ask that we come together 

to help TSA help you. 

We are working 

hard to secure funding and 

grants from a variety of 

sources, but this is difficult 

for a small organisation 

like ours. 

One of the projects we are working 

hard to fund is a research project on 

early interventions for babies with TSC. 

This study will examine how we can 

reduce the most harmful effects of TSC 

for every one of the 50 babies born in 

Australia every year. There are some 

exciting opportunities for TSA to invest 

in this ground breaking research here in 

Australia but we need your help to make 

this happen. 

We are so thankful to all of our 

wonderful supporters and fundraisers 

from around Australia. If you have been 

inspired by their efforts and would like 

to help raise the much needed funds 

for TSA, please contact us on 1300 

733 435 or email our fundraising and 

communications lead at kate.garrard@ 

tsa.org.au 

I would like to acknowledge the 

fantastic fundraising efforts of two 

of our committee members, Alison 

McIvor and Georgina Schilg. Not only 

do they volunteer and give their time 

as committee members, they also 

raised much needed funds for TSA. 

Alison completed the City2Sea run 

in November, her first ever fun run 

and, thanks to her friends, family and 

workmates, raised $3,100. Georgina 

ran in the Burnie 10 event in Tasmania 

and raised just over $2,000. These were 

amazing efforts and we very much 

appreciate their support. 

We are currently planning education 

and fundraising events for the rest of 

the year, so please look out for this 

information in this issue of Reach Out, 

in our newsletters and through our 

website. I would also like to thank all 

of the families who shared their stories 

and photos in this issue, particularly 

the brothers and sisters of people with 

TSC. Sharing your story inspires and 

informs others who live with TSC, as 

well as health professionals and the wider 

community. 

4 




TSA News 

Proposed Constitutional Changes 

At the next AGM there will be several proposed changes to TSA’s 

constitution. A copy of the draft constitution will be available 

on www.tsa.org.au at least one month before the meeting. 

The proposed changes are: 

• Minor wording changes to align more closely with the 

Australian Charities and Not-for-Profits Commission (ACNC) 

guidelines in declaring our purpose (“ACNC Charitable 

Purpose”) 

• Removing the requirement for the position of Vice President 

to be a member of TSA for at least three years 

• Adding flexibility so that either the sitting President or Vice 

President can have a lived experience of TSC 

• Changing the term of committee members from 12 months 

to three years. 

Why are these changes important? 

These proposed changes are designed to best manage an 

appropriate balance of committee members with a lived 

experience of TSC and those without a lived experience of TSC. 

Those with a lived experience of TSC provide a crucial 

insight and direction to TSA on how best to serve you, our 

members. They have a clear understanding of the experience 

of living with TSC. As TSC is a rare disease, it also means there 

is a small pool of people from the TSC community who could 

and may want to be involved with the governance of TSA. 

In contrast, there is a larger pool of people, without a 

lived experience of TSC, who can bring different skills to the 

governance of TSA. These people can help grow TSA with key 

industry and technical skills while learning from and working 

with those on the committee with a lived experience of TSC. 

The changes to terms of committee members is largely to 

move in line with governance best practice and also minimise 

unnecessary administration and reporting on a yearly basis. 

What does this mean for you, our members? 

The TSA committee is committed to getting people with skills 

that match the needs of TSA. These proposed changes will 

allow us the flexibility to get the right mix of people – those 

with a lived experience of TSC and those with experience 

governing and growing the organisation. This means we will 

continue to grow TSA as a well governed organisation so that 

we can provide more services for the TSC community. 

Please contact us if you have any questions on these 

proposed changes. 

Notice of Annual 

General Meeting 

The Annual General Meeting (AGM) of Tuberous Sclerosis 

Australia Incorporated (TSA) will be held in Sydney 

on Saturday 22 September at 2.00pm as a part of our 

Understanding TAND education event. Our guest speakers will 

include Professor Petrus de Vries. We encourage all members 

of TSA and interested parties to attend. Visit our www.tsa.org. 

au for more information closer to the event. 

We’re bringing 

South African TSC expert 

Professor Petrus de Vries 

to Adelaide, Melbourne 

and Sydney in August and 

September. 

Check the back cover of 

Reach Out for more. 

5

TSA News 

Meet Kate 

Interview with TSA’s Fundraising Lead, Kate Garrard 

Q. Why do you like being a fundraiser? 

I love my job – it’s that buzz you get when someone believes in 

what you are doing and says they will give you a donation. It 

feels really good knowing I am helping people. 

Q. What are you passionate about? 

My family – I have two children and a gorgeous dog who make 

me very happy. I live in Sydney’s Royal National Park and love 

spending time with my family in the bush and at the beach. I am 

passionate about enjoying a good work life and trying to do good 

where I can. I am also passionate about good coffee and wine! 

Q. How are you enjoying being part of the TSA team? 

I’m really enjoying it. Six months has flown by! The TSA team has 

been so welcoming and helpful. I’ve learnt so much about TSC and 

met some really wonderful people. 

Q. What have you discovered after six months in the 

TSC community? 

I’ve discovered the TSC community is incredibly supportive and 

generous, despite many people facing difficult circumstances. 

Fundraising is a tough gig, but my approaches and asks have 

been received really well which is motivating and inspiring. I am 

learning the biggest opportunities for support will come from 

inside our TSC community, from the very people whose lives 

have been impacted by the disease and by TSA’s help. 

Q. What’s one of the challenges you are facing as a 

fundraiser for TSA? 

TSA doesn’t receive donations from large companies because 

the disease is so rare and unknown–and we have pretty steep 

competition with big charities and more common diseases. 

Right now we lack connections to businesses and I’d love to 

have our TSC community open some doors for us to companies 

they work with, or know someone at, who I could make an 

approach to. Getting some major donors and corporate support 

would really help secure our future financially and ensure 

we have the funds to invest in all the projects we dream of to 

improve the lives of individuals affected by TSC. 

Q. What would you like the TSC community to know? 

Fundraising is all about connections and relationships – we 

need you to be the reason people and organisations support 

us. And also that I am here to support your fundraising and to 

follow up the leads you give us. 

Please understand there is a sense of urgency around our need 

for funding. Quite frankly we don’t have enough funds to continue 

to provide our services and invest in the research we know will 

improve health outcomes for our community beyond the next two 

to three years. Therefore, we need to rally our community to come 

together to ensure we will be here for the long term. 

There are so many different ways you can help. We’d love more 

people to: join our TSC Hero teams and seek donations from their 

family and friends, get their workplaces to donate, open doors 

with businesses so we can make approaches for corporate gifts, get 

schools to host collections for TSA, or host community fundraisers 

like trivia nights. The possibilities are endless. If you’re unsure, 

please pick up the phone and give me a call. 

This year we’ve 

decided not to organise 

picnic days in each state. 

If you’d like to host an 

event with your local TSC 

community in May or any 

other time, contact us 

and we can help you 

promote it. 

6 




#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. 

You could also host an event at home, 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 quick 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 with some gold coin collections around Australia. 

Go social 

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

Instagram and Facebook. Use the #Tatts4TSC hashtag 

and tag us @AuTSC 

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. Individuals tattoos are $10 including postage. 

Or buy 3 for $20. 

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 the team at Geolyse who have already signed up to 

have a gold coin morning tea on May 15. We’re really grateful to 

all the team at Geolyse for raising awareness and funds for TSA. 

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

worldwide have tuberous sclerosis complex (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, Tuesday 15 May. 

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.

Personal Stories 

Celebrations 

Back to school 

“Pictured here are Holly, Koby and Chloe heading back to school 

this year. Koby has TSC. Both girls have learnt to sign and love 

to help Koby learn new words and encourage him to try new 

things. Sometimes he will only go to the toilet or brush his teeth 

if his sisters help! Holly, the youngest, wants to be an occupational 

therapist when she grows up so she can help kids like Koby.” 

Fiona, QLD 

“Oliver started Year 1 at school this year. I was definitely 

celebrating and Oliver was happy to get back to routine.” 

Michelle, NSW 

Kye and Olivia started Year 3 and Year 5, respectively, this year. 

Both have TSC, autism and epilepsy and are in a support class. 

They have up to 30 seizures per day but they don’t let this stop 

them from being happy, beautiful and brave kids. 

Karen, NSW 

8 





“This is a photo of Josh (right) on his first day back at 

school this year with his brother, Nicholas, and their 

grandfather, Russell. Josh has tuberous sclerosis complex. 

He has recently started trampolining in a mainstream 

class. This is in addition to dancing, cricket, swimming 

and horse riding each week. We are busy!” 

Nicole, WA 

“Zarah started Year 1 this year and her younger sister, 

Juana, started Kindergarten. It is so exciting to see them 

go off to school together” Manoela, NSW 

Isabella started in Year 3 this year and we are so proud of how 

far she has come. Today she told me, “Mum, I’m just going to 

do some writing first and then I’ll come outside.” Later I had 

a sneak peak and she had written the numbers 1-10. This is a 

huge achievement for our TSC hero. 

Abby, VIC 

Want to share your achievements with the TSC community? Email reachout@tsa.org.au with your celebrations. 

9


Sibling 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 who have a brother or 

sister with TSC to share their stories. 

Clare’s story 

am really proud to present this series of sibling stories for 

I this issue of Reach Out. It has been an honour to interview 

each sibling and listen to their stories, their strength and their 

kindness. Each day I am motivated and informed in my work for 

TSA because of my own experience as Lizzie’s big sister. When I 

say it defined me, it still feels like an understatement! 

Lizzie was born when I was two years old. She was severely 

affected by TSC and polycystic kidney disease (PKD). She had a 

profound intellectual disability, never developed speech and went 

into kidney failure in her 20s. There was no family history and I 

travelled the journey of TSC and PKD along with Lizzie because of 

an unlucky draw from the genetic lottery. I think understanding 

the huge role luck or fortune plays in all our lives is the biggest 

difference I have always seen between myself and my peers. 

Whenever I read an article on siblings of people with 

disabilities I find I check most of the boxes. I was fairly mature 

and willingly contributed to the care Lizzie required. But I was 

also jealous of the huge amounts of free time some of my friends 

seemed to have. I loved Lizzie intensely with a simplicity I didn’t 

experience again until I had my own children. I was so proud of 

everything she accomplished. I knew my parents were busy and 

subconsciously didn’t turn to them for help in the same way my 

friends may have done to their parents. I defined myself as ‘the 

smart one’ and worked hard at school partly to get the recognition 

that came with that academic achievement. Being Lizzie’s sister 

made me strong and resilient, but also meant I had to learn slowly 

that sometimes it is ok to ask for help. 

I knew my parents were busy and 

subconsciously didn’t turn to them for 

help in the same way my friends may 

have done to their parents. 

Caring for her while she was sick and dying when we were both 

in our twenties brought its own set of challenges. It was like being 

attached to a piece of elastic. Sometimes I’d try to live my own 

life and not be too involved in what was happening at home. My 

parents made it clear there was no obligation or expectation on me 

Clare & Lizzie 

or my brothers. After a while, I would feel a pull to become more 

involved, being overwhelmed by the reality of her declining health 

and also the impact it was having on my parents and my youngest 

brothers. During this time I travelled and lived overseas but also felt 

uncomfortable that my sister didn’t have the freedom I had. 

Lizzie’s death came at a huge time of transition for me. She 

died a few months after my wedding and I gave birth to my first 

child just after her first anniversary. It is an ongoing sadness for 

me that my two children will never meet their aunty Lizzie and 

experience her wicked sense of humour, unconventional dancing 

and unconditional love. But I tell them about TSC, the work I do 

and why I do it. When I explain to new families with TSC that 

their child has the opportunities of earlier interventions and new 

treatments that no previous generation of children with TSC has 

had, I am genuinely proud to be able to say that, but I am also sad 

for what Lizzie missed out on. 

I hope you enjoy these sibling stories. Thank you to each of the 

siblings who volunteered to share them with us. 

10 



OCTOBER 2017 ISSUE 106


Cooper’s story 

am ten years old and since my brother was born, it’s been 

I a twisted life. Lachlan is now six years old and has tuberous 

sclerosis complex (TSC). He’s had brain surgery and also 

has autism. 

It’s not often that you get a good kind of Lachie, but I think 

you’ve got to love what you’ve got. We get to play games together, 

we love adventures and we love tickling each other. 

One of the hardest parts of being Lachie’s big brother is being 

woken up early in the morning to be played with. You don’t get 

much shut eye with Lachie in the house. 

I know that TSC means that Lachie sometimes doesn’t behave 

himself. Sometimes he’ll give kisses and hugs; other times he’ll 

smack or scratch. It’s his choice, but his brain makes different 

choices than our brains. 

I talk about Lachie and about how he’s had brain surgery and 

how tough it is with him sometimes. I explain that he’s the reason 

I don’t always get to school on time and don’t get to play with my 

friends a lot. Now that my friends understand, they do play with 

Lachie sometimes. I tell them to be careful when touching Lachie. 

When I play soccer Lachie sometimes interrupts the game. He 

screams out loud and claps. He joins in with our family activities. 

My teacher’s brother also has autism but he’s different to 

Lachie. I’ve learnt some new things about autism from chatting 

with my teacher, like how people with autism can learn things, 

but they may need to be shown something a lot of times for them 

to learn it. 

Having a difficult life means I get to learn how to cope. I get to 

teach Lachie things and he teaches me stuff back. 

Cooper & Lachlan 

One of the hardest parts of being Lachie’s big 

brother is being woken up early in the morning to be 

played with. You don’t get much shut eye with Lachie 

in the house. 

11


Belinda’s story 

am in my 40s and live in Sydney. I am a wife, a mum to two 

I kids, and I work in the financial services industry. I have 

three siblings and two of my sisters, Christine and Maryanne, 

were born with tuberous sclerosis complex (TSC). 

Christine is five years older than me and lives in a group 

home with others with intellectual disabilities in Sydney. TSC 

has also affected her kidneys and she’s been on dialysis for 

the last two years. Growing up, I remember Christine was not 

able to do the things that Maryanne and I could and there’s a 

lot of sadness that comes with that. She did join in with family 

events and holidays but, there was always a lot we had to do, for 

Christine to be able to join us. 

I remember when we were children that there wasn’t as much of 

a difference. We’d play and listen to music together and do things, as 

you would with any sister. As we got older there was a realisation that 

she was different. Three of us went off to our school, but Christine 

went to a different school. We were all very protective of Christine. 

Kids could be very cruel and we stuck up for her. 

There’s a lot more information 

and awareness about TSC now and I find 

it much easier to support my sister and 

understand this disease. 

Christine moved out of our family home when she turned 18. I 

would visit her and take her out, making sure she had social events. 

As we both grew up and had our own families, Maryanne and I 

shared having her stay with us for weekends and coordinating her 

health care. 

Maryanne, my younger sister, also had TSC but this did not 

affect her mentally and we had a relationship similar to many 

sisters, including going to concerts and parties. After she was 

diagnosed with TSC, I did provide emotional and practical 

support for Maryanne. She struggled with the marks on her 

face, especially as a teenager. I also helped by taking her to 

medical appointments. Maryanne got married and had a son and 

everything was pretty normal. 

Three years ago Maryanne started having severe headaches. 

It took some time before we found out this was due to a large 

subependymal giant cell astrocytoma (SEGA) growing in the 

middle of her brain. In February 2015 Maryanne died from 

complications relating to this tumour. It has been a very difficult 

few years adjusting to life without her as well as supporting her 

husband and son. 

These days I play a significant role in Christine’s care, with 

most of this falling to me now that Maryanne has passed away. 

This includes coordinating her NDIS plan, her group home and 

Christine, Maryanne and Belinda 

her health care. For example, Christine’s in hospital right now and 

I have been visiting regularly and making sure she has some carers 

to spend time with her – juggling that along with my own work 

and family life. 

Things have changed a lot for TSC in recent years. When I 

was younger there wasn’t as much information available on TSC. 

I didn’t really know how to deal with different aspects of my 

sisters’ condition. Even when we went to medical appointments 

few doctors knew about TSC. There’s a lot more information and 

awareness about TSC now and I find it much easier to support my 

sister and understand this disease. 

When I think about how TSC has affected my life, I think 

I have more empathy than other people. I have more of an 

understanding and awareness of, not just TSC, but other 

conditions and issues as well. 

If I was giving advice to other siblings of people with TSC, 

I’d tell them to embrace it. We still had heaps of fun and life was 

mostly normal. Get as much information as you can about TSC – it 

is complicated! I learnt through our experience with Maryanne 

that keeping on top of TSC is crucial. Don’t become complacent 

with regular checks and tests. 

Tuberous Sclerosis Australia has a great website, and the 

Facebook group is really useful for connecting with others and 

asking questions (even if it’s very parent focussed sometimes). 

Becoming a part of the community reminds you that you’re 

not alone. 

12 Reach 


Out


Georgina’s story 

am 23 and my younger brother Jacob is 21 and lives with 

I tuberous sclerosis complex (TSC). I am studying at university, 

in my final year of music therapy, combining my love of 

music and psychology. Jacob works at Bedford Industries, an 

Australian disability enterprise, in their packaging team. We 

grew up in Ballarat and now live in Adelaide. 

Jacob is the life of our family. We’re generally a shyer group of 

people, but Jacob can make conversation with anyone. He brings 

so much joy and an almost child-like innocence that has stuck 

with him even as he’s grown up. Everyone thinks the world of 

Jacob and he makes friends really easily. Even though TSC has 

caused Jacob many challenges, we feel very blessed to have him. 

From knowing Jacob and his 

friends, I have a different perspective 

and am more natural with people who 

are different 

The major impact of TSC on Jacob’s life is his intellectual 

disability. He has some more advanced social skills, but isn’t able 

to read or write or do basic mathematics. Of course, he also has 

the physical signs of TSC and sees lots of doctors to monitor how 

the tumours throughout his body are growing. He had brain 

surgery about ten years ago, but everything else has been under 

control, which is great. Jacob takes it all in his stride. 

Although I have nothing else to compare it to, I think 

being Jacob’s sister has made me more understanding. From 

knowing Jacob and his friends, I have a different perspective 

and am more natural with people who are different. Jacob’s 

attitude is totally without judgement. I don’t know that he even 

comprehends disability at all. When I see this, it reminds me to 

be more like that. 

Growing up, I don’t think I really knew that our family was 

different until later in primary school. We’d be out in public and 

Jacob 

would 

just start 

singing. He’s 

Georgina & Jacob 

always been a free 

spirit. People would 

walk past and think it was bizarre, 

but we’d just think, “That’s Jacob and he’s having a great time.” 

I can remember being with a large group of friends from our 

church and Jacob decided he was going to get up and perform a 

song, possibly not the most appropriate song choice of, ‘Don’t cha 

wish your girlfriend was hot like me’. Everyone knew Jacob well 

and, although it caught everyone off guard, we generally just let 

Jacob be Jacob and all enjoyed his singing and dancing. 

Of course, life wasn’t always singing and dancing. One of the 

hardest things is when my patience is challenged. Jacob can be 

very fixated on things, such as his current obsession with flags. It’s 

just so intense and relentless and it’s been an obsession for the last 

ten years. It’s harmless enough, but it does get tiring. 

I can’t ever remember feeling like my parents gave Jacob 

too much attention or that they didn’t help me enough. If Jacob 

needed someone with him, it was often Mum with him and Dad 

would spend more time with me. My grandparents also played a 

big role and if Jacob needed both Mum and Dad then I would have 

a great time with Grandmother and Grandad. They’d also check 

in with me regularly and make sure I was ok. Even if there was a 

physical distance, calling and having a chat showed me they were 

thinking of me and they loved me. 

I know everyone is affected differently, but if I had to offer 

advice to someone else with a brother or sister with TSC, I’d tell 

them to be open to what their sibling can teach them. For me, 

Jacob reminds me to enjoy the small things, to not be too quick 

to judge, and to be more loving. Even though it does come with 

many challenges, there are definitely gems that you can grab out 

of your situation. 

13


Danny’s story 

My name is Danny and I am 13 years old. 

I live in New Zealand and enjoy hockey, 

swimming and playing computer games. My younger 

sister Rylee has tuberous sclerosis complex (TSC). We 

found out when she was two days old and I was three years 

old. I didn’t really understand at the time but I knew that Mum 

and Dad were very worried. 

TSC means that Rylee’s brain works differently. She takes 

longer to learn new things and gets really grumpy when she’s not 

happy. When she was younger she would sometimes get so angry 

that she would hurt me, but it’s been better recently. She also used 

to wake me up in the middle of the night when she had trouble 

sleeping. She just couldn’t understand why I did not want to get 

up and play at 3 o’clock in the morning and shake me until I got 

upset and my Mum came. These days she knows that she has to 

stay in bed and play by herself until it’s time to get up. 

Having a sister with TSC has meant I have learnt to do many 

things differently. I had to learn how to play differently with 

Rylee. For example, when we play hide and seek I can’t go and find 

If I had to give advice to other kids 

who have a brother or sister with TSC it 

would be to accept them the way they 

are. You can learn heaps from those who 

are different. 

her straight away. I have to pretend to take longer even when I 

know where she is hiding. I don’t mind doing this as it makes her 

enjoy the game more and it is cool to see her happy and laughing 

while I pretend to look for her. We do enjoy being together and 

I’ve even taught her how to play Minecraft, a computer game 

where you mine for materials and then build things. We have 

our own Minecraft virtual world where we play together and she 

builds some really crazy things! This is one game that she can play 

by herself and I don’t have to worry about her not knowing what 

to do. I find it a really special thing to share. 

Because we go to a small school, Rylee and I are in the same 

class. This is ok, because a lot of the time she’s doing her own work 

separately from the rest of us. But if Rylee gets hurt then people do 

ask me for help. Sometimes this worries me as I won’t be at school 

next year and I won’t be there to help her. I explain to the kids at 

Danny 

school that Rylee learns differently and that she has a bad temper. 

Some kids understand it, but others, especially the younger kids, 

don’t. I have two best friends who really do understand Rylee and 

enjoy playing with her. We even share our Minecraft world with 

her and give Rylee her own space to build in. It is important that 

my friends accept Rylee for who she is. I don’t think we would be 

friends if they were mean to her like other kids are sometimes. 

At school last year, I gave a speech about what it was like 

growing up with Rylee and her TSC. I told the story of how she 

made up her own words to New Zealand’s national anthem. 

Instead of singing ‘God of nations at thy feet’ she would sing 

‘Mother nature, 1, 2, 3’! That got a few laughs from the audience. 

It also felt good to share with people how tough it can be for my 

sister and that they should walk a mile in her shoes. I am very 

lucky I don’t have TSC. 

Sometimes I do feel left out because of Rylee’s TSC. When 

Mum and Dad took her to Brisbane for a hospital stay I went to 

stay with my grandmother. I didn’t like feeling left out of their 

trip. But generally Mum and Dad do a good job of treating us 

both the same. There is one exception – because Rylee doesn’t 

understand money yet she doesn’t have to save up to buy things 

like I do. When I buy something with my money Rylee often gets 

something bought for her. This annoys me a bit. 

I think being Rylee’s brother has made me more 

understanding of how people can be different. There are two 

other kids at our school with learning disabilities and lots of kids 

leave them out or get angry with them. I know they are different 

and I am much more patient with them. If I had to give advice 

to other kids who have a brother or sister with TSC it would be 

to accept them the way they are. You can learn heaps from those 

who are different. 

14 





Elise’s story 

am 15 and in Year 10 at school in Brisbane. I have two 

I younger sisters, Dayna and Evie. Dayna has tuberous 

sclerosis complex (TSC). In my spare time I enjoy dancing 

and reading. 

TSC has a big impact on Dayna’s life. She needs to be helped 

with everyday tasks such as showering, dressing and eating. 

She attends a special school that is 45 minutes’ drive from our 

house. Dayna was very slow to walk and crawled for a long time. 

Even now she can’t walk for long periods and is still in a stroller. 

She has around 40 seizures each day, most of them minor. Her 

epilepsy medication means she has problems controlling her 

temperature, so we always need to have air conditioning. If she 

gets too hot Dayna can get really angry and also start having 

seizures. That’s stressful for everyone. 

One of the biggest impacts on my life is that I don’t like being 

away from home for very long. When I was younger and went on 

a sleepover I would start panicking and worry that Dayna may 

need to go to hospital and I wouldn’t be there to help. These days 

I can be away from home, but I manage by staying in frequent 

contact and reminding myself that, even if something happened, 

there wouldn’t be too much I could do. My friends are very 

understanding. Most of them have met Dayna and love her – 

everyone usually does! 

Dayna is really happy 95% of the time. She’s fairly easy 

going. I am one of her favourite people and she’s always hugging 

me. We like watching TV and going to the park together. She’s 

my best friend. 

Dayna has a group of friends that she’s made at school over the 

years. I have met some of their families and I enjoy talking to the 

other brothers and sisters in that group who understand what it is 

like to have a sibling with a disability. 

For our family, it can be hard for all of us to go somewhere 

together. If Dayna is upset, then all or some of us may have to leave 

wherever we are to look after her. This is a contrast to my friends, 

who talk about going out somewhere together as a whole family. 

I think being Dayna’s sister means I have more initiative. I help 

Dayna with medication and showering each day. That might sound 

like a lot of work, but I enjoy doing this and Dayna is easy to hang 

out with. 

Dayna & Godric 

A few years ago we decided to get a dog for our family because 

we thought Dayna would be really good with a dog. My Dad took 

all three of us to the rescue shelter. While we were there Dayna had 

a meltdown. Everyone else in the shelter was staring and glaring 

at us, not understanding what was going on. I took Dayna’s hand, 

picked her up and took her over to the cage to give her something 

to hold on to. The one dog that was not barking at Dayna came 

straight up to her and licked her hand. Dayna calmed down 

completely. That dog is now called Godric and he’s a much loved 

member of our family. 

If I was talking to other people who have a brother or sister 

with TSC, I’d tell them to focus on trying to understand their 

brother or sister. Everyone with TSC is different and they all have 

their own likes and dislikes. Taking notice of these things and 

figuring out what can upset them can be really useful. 

I think it’s important for parents to look out for siblings 

who don’t have TSC. It takes a lot of time and effort to look after 

someone with a disability and I know kids can feel left out when 

they don’t get that attention. My parents encouraged my sister Evie 

and me to do activities outside school that they can go with us to. 

Evie does gymnastics and I dance. 

When I think about the future I hope I will never be far away 

from Dayna. I know that she’s going to be ok. 

I think it’s important for parents to look out for siblings 

who don’t have TSC. It takes a lot of time and effort to look 

after someone with a disability and I know kids can feel left out 

when they don’t get that attention. 

15

Information 

Siblings: the Longest 

Relationship 

From an interview with Kate Strohm, Director, Siblings Australia 

Why are brothers and sisters of children with a disease 

like tuberous sclerosis complex important? 

Siblings are important for two main reasons. First, as children, 

they may be experiencing a lot of stress at an age when they don’t 

have the skills to manage this stress. This can lead to them feeling 

isolated and not able to understand what is happening within 

their family. Research also tells us that, without support, siblings 

have higher rates of depression and anxiety. 

Second, siblings are likely to have the longest relationship 

of any with the person with TSC. Nurturing and strengthening 

the relationship between siblings can have many benefits. These 

benefits can be for the siblings themselves, for the social and 

emotional wellbeing of the person with TSC, for parents and for 

the wider community. 

What do we know about sibling experiences? 

Just like TSC affects each person differently, there is no ‘one’ 

sibling experience. Some siblings experience a mutually satisfying 

relationship with the person with TSC, provide lifelong social and 

emotional support, and help to create a good life for the person 

with TSC. However, some siblings have a really difficult time 

and eventually move far away from their brother or sister with a 

disability as that relationship has broken down. The experience of 

siblings also changes over time. The experience of a four year old 

will be quite different to that of a 14, 34 or 54 year old sibling. There 

are also many different life changes that can impact the siblings. 

Some of the common emotions that siblings experience are: 

• Confusion about what is happening within the family 

• Isolation because they don’t know anyone else who is going 

through similar experiences and they don’t have anyone they 

can talk to about their challenges 

• Guilt about some of the feelings they have or about doing 

things that their brother or sister cannot 

• Grief for their brother or sister or for their parents and the 

challenges they face 

• Grief for themselves and the ‘normal’ brother or sister 

relationship that they do not have 

• Embarrassment, particularly at other people’s reactions to 

their brother or sister’s difficult behaviours 

• Feeling that they are missing out because of the extra 

attention or time given to their brother or sister 

• Feeling overly-responsible for their brother or sister or for 

their parents 

• Worry about the future, particularly as they get older. 

Not every sibling experiences all of these emotions and many 

siblings will experience other emotions too. Siblings Australia 

has done a lot of research on siblings and these are the common 

things that come up fairly regularly in our work. 

What are some of the strengths that siblings can have 

because of their experiences? 

Many siblings can show increased compassion, understanding 

of differences, increased maturity, and many are very skilled and 

capable at a very young age. But sometimes it is too simple to 

say that these are just strengths. It can be difficult to hear people 

talk of an eight year old sibling and describe her as very mature. 

Sometimes I think siblings are forced to grow up too fast. 

I am not surprised that your interviews have been very 

positive. Of course, as mentioned, some siblings do enjoy a 

wonderful relationship. However, many siblings will feel that 

they can’t say anything negative in an interview and that to 

do so would be disloyal to their family. Often we reward the 

good behaviour, saying, “Oh, you’re such a good sister,” and 

this can make it very difficult for the sibling to talk about their 

challenges, believing that people would think they are selfish if 

they did. Many adult siblings report that their major challenge 

is that they grew up squashing down those feelings that weren’t 

all positive. 

Siblings need to know that it is ok to have a mix of feelings. 

All brothers and sisters might love and hate each other at 

different times. When parents and others reinforce only the 

positives it can make children think they are bad children if they 

don’t feel positively about their brother or sister 100% of the 

time. We forget that siblings are often young children and may 

not have the skills to manage difficult emotions. 

I do know that many siblings have positive experiences and 

I am not diminishing those, but I think we have to acknowledge 

that many siblings can also have not quite so cheery feelings. 




Personal Information Stories 

What can parents and other family members do to 

support siblings? 

The most important thing parents can do is to encourage and 

help siblings express their mix of complicated thoughts and 

feelings. One way to frame this is that any feeling is ok. Of 

course, not all behaviour is ok, and parents can help siblings 

learn ways to manage any difficult feelings. 

For example, the siblings may feel anger or resentment that 

the family picnic was cancelled. That’s ok, they’re a child and 

they were looking forward to the picnic. But there needs to be 

limits on the acceptable behaviour in response to that (e.g. they 

might be allowed to punch their pillow but not allowed to punch 

walls) depending on the rules within that family. 

It can be particularly difficult for parents when siblings 

voice concerns over not receiving as much attention or time as 

their brother or sister. It is especially important to accept these 

feelings and not become defensive. Aggressive and difficult 

behaviour by the child with the disability is another challenge. 

Siblings can be physically and emotionally hurt by aggressive 

behaviour and parents can support the siblings to be able to 

express their hurt while also understanding the limitations of 

their brother’s or sister’s disability. 

Information is also important. For children, the 

information needs to be at an appropriate level for the age of the 

child. Parents can find books at an appropriate level or seek the 

help of health professionals to explain the condition and answer 

questions. This knowledge will need to be expanded over time 

with the sibling. 

Learning to balance the amount of responsibility siblings 

have can help siblings to develop their own identity. The 

siblings may contribute in many ways and parents can 

acknowledge and appreciate this contribution, but having 

limits and saying things like, “That’s my job. You can go and 

play now,” can be really helpful. 

Thinking about the future for the person with a disability 

is also important. It is helpful to start exploring what future 

options might be available, earlier rather than later. 

In the same way that parents find it helpful to have contact 

with other parents who understand, many siblings find it 

helpful to make contact with other siblings. Siblings who can get 

together with other siblings really value the opportunity to share 

experiences and knowledge and, in the process, feel less alone. 

How does the sibling experience and the roles they 

play change over time as parents and the whole family 

gets older? 

Again there is a huge mix of adult sibling experiences. 

Sometimes it is very sad when the sibling has had a very 

stressful childhood and moves away and doesn’t have a strong 

relationship with their brother or sister. 

The key is to look at it from the perspective of developing 

a good life for the sibling and for their brother or sister with a 

disability. Some siblings take on a role similar to other brothers 

and sisters and spend social time together and support each 

other in a variety of ways. If the person with a disability is still 

living at home, the siblings may take on a caring role from 

time to time or support their parents continuing to play this 

role. Siblings can also have a role in advocacy, such as being 

one part of a circle of support for their brother or sister. It can 

make a difference whether there is only one sibling or if there 

are several. Sometimes siblings give up their own lives to care 

for a brother or sister but, in the longer term, this is often 

problematic for both. I do think it is important that siblings are 

not considered automatic carers, but are still seen as playing 

significant roles in the life of their brother or sister, contributing 

to their sibling’s social and emotional wellbeing. 

What role do you think gender plays in sibling issues? 

I hesitate to stereotype but, as children, boys tend to externalise 

their emotions more and girls tend to internalise more. This 

won’t apply to everyone, but boys may tend to act out while girls 

may be at higher risk of anxiety and depression. Girls may be 

more likely to take on the caring role for their brother or sister 

but also more likely to reach out for support. For example, 

Siblings Australia runs a Facebook group for adult siblings and 

there are many more female members than males. 

There is a lack of research in this area but much of this 

mirrors what we know of some of the general differences 

between the genders. 

17


Another issue that comes up is about understanding 

the genetics of TSC. Siblings can often have questions 

and need help when they think about or start to 

move into a stage of their own lives that may include 

having children. What are your perspectives on this 

complexity? 

I remember supporting a young sibling who had a brother 

with Down syndrome. Her school teacher had shared some 

information about the genetics of Down syndrome and this 

didn’t match what the girl had understood from her experience 

with her brother. The sibling and I (at the request of the parent) 

went along to see a genetic counsellor who was able to explain 

the genetics of Down syndrome, as it applied to her family. The 

sibling was able to return to school and correct her teacher’s 

knowledge. 

I do see a role for genetic counsellors in supporting siblings 

to get answers to these questions, and in continuing to support 

them if there is a genetic risk for the sibling or their children. 

What supports are available to siblings in Australia? 

Siblings Australia has conducted mapping projects to identify 

sibling supports around Australia in 2009 and 2017. In 2009, 

we found that there was a clear lack of services and no national 

coordination or standards in place. In 2017, we found even fewer 

supports for siblings. 

Siblings Australia is a registered provider with the NDIS 

and available for one-on-one sessions to help parents support 

siblings. This process includes parents filling out a questionnaire 

and then spending time with me, either face to face or on Skype, 

to learn some strategies that can work for them. 

Sibworks is our program for primary school aged siblings 

that has been evaluated by researchers from the University of 

Adelaide. It consists of a facilitator manual and participant 

booklet. The information about this and our other resources is 

on our website. 

Siblings Australia also runs a closed Facebook group for 

adult siblings called SibChat, and co-facilitates one for teen 

siblings. 

A few disability providers and local community groups do 

run programs for siblings, but these have decreased in number 

with the transition away from block funding to the NDIS. 

Some support for siblings is available through young 

carer supports. While these can be useful for some, there are 

limitations in these programs. Many siblings do not take on a 

significant carer role and are still deserving of support. Also 

consider the dignity of the person with a disability when a 

sibling is considered their carer. I believe that siblings must be 

supported to also just be the brother or sister of the person with 

the disability, not just be their carer. 

Many siblings find support through mental health services. 

A mental health plan through a GP can be used to access publicly 

funded psychology services. Siblings may need to shop around to 

find the right therapist as some therapists don’t understand the 

sibling experience. 

There are also a few books available for parents, adult 

siblings and professionals, including mine which is called, 

Siblings: Brothers and Sisters of Children with Disability. 

One of the biggest challenges is that siblings aren’t 

specifically recognised in policy. Sibling issues are not seen as a 

mental health issue, a disability issue or anything else. Until this 

changes siblings will continue to be overlooked and services will 

continue to be ‘hit and miss’. 

Siblings Australia’s mission is ‘Siblings: Acknowledged, 

Connected, Resilient’. You can read more about their work, 

about issues surrounding siblings and available support services 

at www.siblingsaustralia.org.au 




Information 

A new resource 

to explain TSC to 

children 

little book about Tuberous Sclerosis Complex has been written for primary school 

A children to explain this complex disease. In this book you’ll meet Tubee and learn 

about how tuberous sclerosis complex (TSC) affects different people in different ways. 

We are planning to launch the book later this year and make it available to families living 

with TSC around Australia. 

Thank you to the fundraising efforts of our TSC Heroes for making this project possible. 

Life Expectancy for 

People with TSC 

oes someone with tuberous sclerosis complex (TSC) have a 

“Dnormal life expectancy?” 

This can be one of the questions that people have when they 

hear about TSC for the first time. It remains, however, a difficult 

question to answer. 

The good news is that achievements in the last 20 

years of TSC research and health care mean that people 

with TSC have every reason to expect to live a long life. 

These include earlier diagnosis of TSC through prenatal 

testing, improved seizure control and new medicines 

for TSC signs and symptoms. Regular surveillance and 

active management of the various signs and symptoms 

of TSC are important to minimise the risks of early 

death in TSC. 

Tuberous Sclerosis Australia has recently added a new 

information page to our valuable online collection. We are 

the first English speaking TSC organisation to tackle this 

topic. Thank you to everyone who helped us with this new 

resource, including Hayley Hill, Debbie and Anthony Crosby 

and Dr Chirag Patel. 

We are regularly updating our information pages to reflect 

changing treatments and management approaches for TSC. You can 

read all our information pages at www.tsa.org.au/information 

19

Research 

Research News 

Many recent journal publications have shared new understanding of how tuberous sclerosis complex (TSC) 

works and how best to use available treatment options. We’ve chosen just a few to summarise here. 

How to make the diagnosis of TSC before 

seizures start 

Slowinska, Jozwiak et al published a study that identified the most 

useful approach in making the diagnosis of TSC before seizure 

onset (Note: seizure onset is usually after four months of age). 

This is becoming more important in TSC because of increasing 

evidence that early monitoring with EEG can detect seizure onset 

and provide an opportunity for early treatment. 

The team examined 100 children with TSC from Poland and 

Italy who had suspected TSC because heart tumours (cardiac 

rhabdomyomas) had been found on prenatal ultrasound. Eightytwo 

of these children were diagnosed before four months of age. 

The most common clinical signs of TSC that were used to confirm 

their TSC were brain lesions (subependymal nodules, also known 

as SENs, and cortical dysplasias, also known as cortical tubers) 

and hypomelanotic macules (also known as white patches). 

Genetic testing was done for many babies with suspected TSC 

but, for most, results were not returned early enough to confirm a 

diagnosis of TSC before four months of age. 

Through their research, the team has proposed a diagnostic 

algorithm that specifies referrals and tests for a child with 

suspected TSC. This algorithm includes prenatal MRI, brain and 

abdominal MRI and skin exams. The researchers also recommend 

referral to TSC centres or specialists whenever these are available. 

This study is important as it offers a process for maternal and 

foetal medicine teams to follow that is informed by evidence. It 

confirms that clinical tests (such as MRIs and skin exams) are still 

the most useful for diagnosing TSC and are not able to be replaced 

by genetic testing. 

Słowiska, M., et al., Early diagnosis of tuberous sclerosis 

complex: A race against time. How to make the diagnosis before 

seizures? Orphanet Journal of Rare Diseases, 2018. 13(1): p. 25. 

Everolimus for younger children with TSC 

Kuki et al reported results from using the mTOR inhibitor 

Everolimus to treat SEGA brain tumours in five children under 

12 months of age in Japan. They found that all children had at 

least a 50% reduction in the size of their SEGA. The majority did 

experience adverse events from using Everolimus including mouth 

ulcers and infections. 

The researchers conclude that mTOR inhibitors can be 

effective for younger children but adverse events should be 

closely monitored. 

Kuki, I., et al., Efficacy and safety of Everolimus in patients 

younger than 12 months with congenital subependymal giant cell 

astrocytoma. Brain Dev, 2018. 

Knowledge of kidney issues in TSC 

Cockerell et al studied how much people with TSC and their 

parents know about the effects of TSC on the kidneys. 

The questionnaire study included 357 families across France 

and Norway. 

They found that the most common ways people learnt about 

TSC were in medical consultations and through their local 

TSC organisations. They found that people who knew more 

about kidney signs and symptoms were more likely to have the 

recommended regular imaging of their kidneys. The researchers 

were surprised that over 40% of people were not aware that 

kidney angiomyolipomas (AMLs) were at risk of bleeding. The 

researchers recommend that people with TSC who are over 15 

years of age, are told about the risk of kidney AMLs bleeding. They 

also recommend people with TSC are provided with information 

about their own risk. For example, for a younger person, their risk 

may be low because their AMLs are small. 

Thirty percent of people in the study had not had the 

recommended imaging of their kidneys every three years. A 

smaller number had never had any imaging of their kidneys. 

Ultrasound was the most common type of imaging. 

The researchers recommend that more is done to increase 

the knowledge that people with TSC have of AMLs and bleeding 

risk. They also recommend more is done to ensure regular 

monitoring of AML growth particularly through adolescence and 

early adulthood. 

Cockerell, I., et al., Renal manifestations of tuberous sclerosis 

complex: Patients’ and parents’ knowledge and routines for renal 

follow-up - a questionnaire study. BMC Nephrol, 2018. 19(1): p. 39. 




Research 

TAND study suggests natural clusters of 

neuropsychiatric disorders 

Leclezio et al have published their pilot study in the journal 

Pediatric Neurology and presented further findings at the 2017 

International Research Conference on TSC and LAM. 

The aim of this research was to find out if there were natural 

clusters, or subgroups, of how TSC associated neuropsychiatric 

disorders (TAND) affect people with TSC. TAND includes 

a wide range of neuropdevelopmental, psychiatric, learning 

and behavioural difficulties. People with TSC and their carers 

consistently report TAND as being one of the ways that TSC 

most severely impacts their lives. However the complexity and 

uniqueness of each individual’s TAND profile is one of the 

barriers to appropriate screening, diagnosis and treatment. 

Using data from over 450 TAND checklists, the team were 

able to define seven natural clusters of TAND: scholastic; 

neuropsychological; mood/anxiety; autism spectrum disorderlike; 

behaviours that challenge; hyperactive/impulsive; and 

eating/sleeping. The work suggests that each person with TSC may 

belong to one of these clusters. 

These clusters may provide a new way to understand how and 

why TAND effects each person with TSC differently. It would also 

provide a foundation for a broader understanding of the variability 

of other signs and symptoms of TSC. Future work may enable us 

to find new ways to look for TAND throughout the lifetime of a 

person with TSC and to identify treatments that are tailored to a 

specific TAND cluster. 

The pilot study included data 

collected in Australia. Thank 

you to the Australians with 

TSC who participated in 

the study. 

Leclezio, L., S. 

Gardner-Lubbe, and P.J. 

de Vries, Is It Feasible 

to Identify Natural 

Clusters of TSC-Associated 

Neuropsychiatric Disorders 

(TAND)? Pediatr Neurol, 

2018. 

Want to learn more? 

Come to our Understanding TAND 

education events in Adelaide, Brisbane 

and Sydney this year with our guest 

speaker, Professor Petrus de Vries. Visit 

www.tsa.org.au/TAND-2018 

Remembering 

Loren 

and Tonya 

Clare Stuart, TSA General Manager 

Two health professionals who made their mark on the global 

tuberous sclerosis complex (TSC) community died recently. 

We offer our condolences to their family and friends and our 

heartfelt appreciation for their contribution to improving the 

lives of those affected by TSC. 

Loren Leclezio worked alongside Petrus de Vries at the 

University of Cape Town, South Africa. Loren has been 

instrumental in improving our understanding of TSC associated 

neuropsychiatric disorders (TAND) and developing the TAND 

checklist. Her work on identifying TAND clusters, which is still in 

progress, will take us even closer to a future where these aspects of 

TSC are well understood and their impacts are lessened. 

Loren also worked tirelessly to improve the health care 

available for people with TSC in South Africa and contributed 

to TSC International’s work in this area. We will remember her 

warmth and energy as well as her compassion. 

Tonya Kara was a nephrologist at Starship Children’s 

Hospital in Auckland and was much loved by her patients and 

their families. Tonya was part of the team who helped us to 

establish Tuberous Sclerosis Complex New Zealand (TSCNZ) 

and worked with TSCNZ to raise awareness of TSC and 

particularly the importance of lifelong surveillance. 

Helen Willacy, President of TSCNZ, reflects on Tonya’s 

contribution to the TSC community: “Tonya was one of our TSC 

champions. She was passionate about supporting her colleagues 

in nephrology and paediatrics, to provide the very best of care 

for their patients with TSC. No words can ever fully describe 

what she has done for the TSC community. She will be greatly 

missed and our hearts go out to her family and friends.” 

21

Fundraising 

Snapshot 

Thank you to all our wonderful donors and fundraisers around Australia who 

support Tuberous Sclerosis Australia’s (TSA) essential information and support 

services. We need your help now more than ever. 

Over the last few years we have been receiving some grants that are no 

longer available to us. To keep going we depend on fundraising efforts from 

our community. If you would like to support TSA and get involved in raising 

funds we’d love to hear from you. Please call us on 1300 733 435 or email 

kate.garrard@tsa.org.au 

Surfside Caravan 

Park kids do 

some good 

in the school 

holidays 

group of children were 

A inspired by Kyah who 

has TSC, to raise some 

money for TSA. During 

the Christmas holidays at 

Surfside Caravan Park, on 

NSW’s South Coast, these 

terrific kids got together 

and held a food stall in the 

caravan park and raised $270 for TSA. What a 

great effort kids. Thank you so much! 

Surfside Caravan Park 

The Patriarchs and The Hard 

Loves rocked the night away 

for TSA 

TSC dad Elliott and his mates in the Patriarchs 

and The Hard Loves put on a fantastic show and 

raised over $2,500 for TSA in October last year at The 

Music Lounge in Brookvale. A massive thank you 

to these great bands for dedicating this night to help 

individuals with TSC. We look forward to the next one! 

Thanks to Lloyd in Darwin 

Lloyd’s daughter Katisha has TSC. 

Together, Lloyd and Katisha have donated 

over $1,000 to TSA by visiting local hotels in 

their area and collecting recyclable bottles 

and cans. The funds collected from the 

recycling plant are donated to TSA. What 

a creative and wonderful way to support 

TSA and help the environment. Thank 

you, Lloyd and Katisha. 

Katisha and Lloyd 

The Patriarchs and The Hard Loves 

22 

Melbourne joins the TSC hero action thanks to Alison 

Melbourne fun run, City2Sea was held on 12 November 2017. Alison, who is part 

of TSA’s management committee, raised over $3,100 for TSA. What a fantastic 

launch for TSC Heroes in Melbourne. Thank you to Alison, Nicole, Maria, Yvonne and 

Kelvin, and all their generous supporters. 

“Becoming a TSC hero was a really simple and fun way to support an organisation that is 

important to me, and I didn’t need to be a super fit athlete to participate. I just got involved 

in a local event, signed up online and picked TSA as my charity. When I told my friends 

and colleagues about it, many of them were happy to donate. It was really heart warming. 

I know the donations will make a big difference in the lives of people affected by TSC and 

I’m delighted to have been able to help. I hope you’ll join us next time,” says Alison. 



City2Sea team 


Fundraising 

We now have a TSC Hero in Tassie 

Our first TSC Hero event took place in Tasmania in late 2017, thanks to Georgie 

from our management committee. Georgie’s daughter Sophie has TSC and this was 

Georgie’s first TSC Hero event to support TSA. Well done Georgie for raising over $2,000. 

What a fabulous effort. Thanks Georgie! 

Have you got a child 

at school? 

Schools are great at supporting 

their students by fundraising 

for organisations that are 

important to them. Could you 

speak to your child’s school about a 

possible collection for TSA? We have 

put together a helpful guide for 

how to go about it. For a full copy, 

visit our website or contact Kate. 

Georgie & kids 

Gifts of hope 

We are thrilled to have received just over $5,300 in 

donations towards creating a new diagnosis pack to 

better inform and support families through the challenges 

of a new diagnosis. Thank you to everyone who contributed 

to our ‘gift of hope’ Christmas appeal. We still need to raise 

another $4,700 to make this happen and we’d love your help. 

Thank you to 

all our supporters 

for your extraordinary 

help. YOU make a 

difference to people 

living with TSC. 

We couldn’t do it 

without you. 

Upcoming Fundraising Events 

27 May: TSC Heroes does Run for a Reason in Perth 

3 June: 5th annual Lizzie’s Lunch in Sydney 

Visit www.tsa.org.au/lizzies-lunch to buy your ticket 

21 July: Christmas in July 

The Padstow Bowling and Snooker Club in Sydney are 

hosting a Christmas in July function raising funds for 

us again this year. Contact us to join our TSA table. 

Over $12,000 was raised in 2017 and the night was 

lots of fun. 

12 August 2018 TSC Heroes does City2Surf in Sydney 

26 August 2018 TSC Heroes does Bridge to Brisbane 

October: Comedy for a Cure event in Melbourne. 

Contact us for more information and to get involved. 

21 October 2018 TSC Heroes does Burnie 10 Fun Run 

in Tasmania 

2 Dec 2018 TSC Heroes does Ironman Bussleton in 

Western Australia 

Join our team of TSC Heroes 

Do you run, walk, swim or cycle? Our TSC Hero teams 

across Australia are raising vital funds to help people 

living with TSC. Contact us to sign up and secure your 

very own TSC Heroes t-shirt. 

23

UNDERSTANDING TAND 

TSC Associated Neuropsychiatric Disorders 

INCLUDING LEARNING, BEHAVIOUR, AUTISM AND ANXIETY 

These educational events are 

for people with TSC, their family 

members and interested health 

professionals. TSA is also working 

with our TSC Professionals Network 

members to hold events specifically 

for health professionals to increase 

their understanding of TAND. 

PLANNED 2018 EDUCATION EVENTS 

ADELAIDE 26 AUGUST 

BRISBANE 8 & 9 SEPTEMBER 

SYDNEY 22 SEPTEMBER 

GUEST SPEAKER 

Professor Petrus de Vries 

Professor Petrus de Vries is a child and adolescent psychiatrist at the 

University of Cape Town, South Africa. He developed an interest in tuberous 

sclerosis complex (TSC) while training and working in the UK and has since 

become a clinical and research leader in the field. Petrus is the chair of the 

consensus conference panel that defined the term TAND to capture all of the 

neuropsychiatric aspects of TSC and developed the TAND checklist. Petrus 

will be in Australia for various meetings and projects this year and has kindly 

volunteered his time for these events. 

Limited travel funding may be available for the Brisbane meeting, 

pending grant outcomes. 

For more information, visit www.tsa.org.au/TAND-2018 

THESE EVENTS CAN ONLY GO AHEAD WITH YOUR HELP. 

Do you know of a business who would consider sponsoring these events? 

Can you make a donation to these projects? Call Kate on 0434 391 430.

Reach Out April 2018

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