Reach Out October 2018

autsc

Reach

Out

OCTOBER 2018 ISSUE 108

Congratulations

Orli

p5

Understanding

TAND events

around Australia

p7

Our

transition

stories

p10

www.tsa.org.au


TSA News

Contents

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

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

Dr Orli Wargon receives

2018 Elizabeth Pinkerton Memorial Award...................................... 5

TSC World Conference ....................................................................... 6

Improving our Understanding of TAND.......................................... 7

Celebrations – What We Do For Fun................................................. 8

Our transition stories..........................................................................10

Transitioning patients with tuberous sclerosis complex

from paediatric to adult health care..................................................16

Tips for working with your GP..........................................................19

Research News.................................................................................... 20

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

Our cover image is young Harrison from the Hunter region of NSW. Thank you to Megan and Sam for

sharing this photo of your beautiful boy.

Tuberous Sclerosis Complex (TSC) affects more than 2000

individuals in Australia and thousands more carers, families and

friends who live with the impact of the disease.

TSC tumours can grow in any organ of the body, commonly affecting

the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy,

developmental delay and autism. There is no known cure for TSC, but

with appropriate support most people with TSC can live fulfilling lives.

Tuberous Sclerosis Australia

Works to connect, inform and empower people affected by tuberous

sclerosis complex as we work towards a cure for TSC.

TSA was established in 1981 as a volunteer organisation to connect families

living with TSC. We have hundreds of members including people with TSC and

their families along with health, education and caring professionals.

Our priorities

1. Ensure Australians with TSC have access to the best possible healthcare

2. Provide up to date and accurate information to all Australians with TSC

3. Support individuals and families affected by so no one has to face the

challenges of TSC alone

4. Champion an active research program in Australia that works towards

a cure for TSC

President Debbie Crosby

Vice President Michelle Purkiss

Committee Members

Treasurer Patrick Norris

Secretary Alison McIvor

Georgina Schilg

Kate Veach

Michael Jones

Public Officer Debbie Crosby

Medical Advisory Board Dr David Mowat,

Clinical Geneticist

General Manager

Fundraising and

Communications

Dr John Lawson,

Paediatric Neurologist

Dr Sean Kennedy

Paediatric Nephrologist

Clare Stuart

Kate Garrard

The TSC Information Service

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

professionals www.tsa.org.au

Call or email us to speak to one of our volunteers. We have regional contacts throughout Australia

who can meet face to face and connect you with local services

1300 733 435 info@tsa.org.au

Not in Australia or New Zealand?

TSA is a founding member of Tuberous Sclerosis Complex International,

a worldwide association of TSC organisations. The TSCi website

contains a directory of TSC organisations around the world

www.tscinternational.org

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OCTOBER 2018 ISSUE 108


TSA News

Editorial

Teresa Llewellyn-Evans

This edition of Reach Out highlights

transitions. According to the Macquarie

dictionary, transition (noun) is the passage

from one position, state, stage etc. to

another. To transition (verb) is to move

someone in a gradual or planned way

from one role, position or stage of life to

another. Transitions are a normal part

of life and we are each likely to face many

transitions or changes in our life.

I look back at some of my own transitions.

Some of these went smoothly such as when

I married my husband – I found being engaged

was such an in-between time. Others were extremely

challenging and resulted in lots of tears along the way such as

my transition to becoming what I consider to be a good teacher

which I think took about three years! As parents we try to help

our children cope with changes but it can be more daunting if

you are in the midst of your own transition and trying to cope

with your own challenges. This is what it was like when we

moved back to Sydney after living in Tasmania for eight years.

That was a big move for all of us.

I think most of us remember what it was like to be a

teenager and the angst we went through on that journey to

adulthood. But how much more challenging is that transition

for a young person with TSC? Leah shares two transitions in

her life - when she was a teenager wanting to understand who

she was and later when she had medical complications of TSC.

She shares the things that were difficult and the things that

helped. “Something that helped me was understanding where

the TSC lesions were in my brain. When I understood that

these … were stopping those parts of the brain working well

I was less hard on myself for struggling with these skills.” See

Leah’s article on p.14.

Debbie, TSA president, finds “… speaking to others who

have gone through the same thing or reading a personal story

… very helpful, and the advice helps you feel like you are not

the only one going through these challenges.” See Debbie’s

president’s report on p.4. We have two parents who share

stories of their son or daughter’s transition to adulthood.

Selina describes her son Liam’s transition and their

multi-faceted approach to Liam’s health and

wellbeing. “Living away from us has been

the making of Liam.” See Selina’s article

on p.10. Sally shares three periods of

transition for her daughter Amelia - from

primary to secondary school, Years 11 and

12 and transition to post school. Having

the right staff can make all the difference

to how well our children settle into their

new environments and parents need to be

comfortable that their children are getting the

right level of support. See Sally’s article on p.12.

We also have Dr Brittany Hulbert’s article on

Transitioning patients with tuberous sclerosis complex from

paediatric to adult health care. Brittany says that “early,

ongoing and structured preparation is the key to a successful

transition.” See Brittany’s article on p.17.

Debbie also asks us to remember that “transition can be

positive as it may lead to a new opportunity or turn out better

than we thought it would.”

We also have all our regular features. In Celebrations on

p.8 we celebrate what we do for fun. Clare gives us the latest

research on TSC on p.21 - the success of the international

topical rapamycin clinical trial, more on Australian research

into TSC and autism and a study which suggests that mTOR

inhibitor medicines are safe in younger children with TSC.

Kate takes us through a fundraising snapshot of the last

six months on pp.22-23. We’re excited to have launched the

first Australian Comedy for a Cure event with the help of our

dedicated volunteer committee

We thank everyone who has contributed stories or photos

for this edition of Reach Out, and those who fundraise for the

work of TSA. Your stories and efforts inspire and inform others

who live with TSC, as well as health professionals and the

wider community.

Reach Out Official Journal of Tuberous Sclerosis

Australia, Inc.

18 Central Rd, Beverly Hills NSW 2209

Telephone: 1300 733 435

Website: www.tsa.org.au

Email: info@tsa.org.au

ABN 20 681 174 734

Incorporation no. Y 07116-42

Registered Charity CC25313

Reach Out Editor: Teresa Llewellyn-Evans

reachout@tsa.org.au

Disclaimer

The opinions expressed in this journal are those of the

authors and are not official pronouncements of TSA Inc.

Permission

Permission must be sought from the authors or publishers

to reproduce in any way articles or information contained

in this journal. Once permission is received the source must

be acknowledged.

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TSA News

President’s Report

Debbie Crosby, President

The theme of this publication of Reach

Out is transition and at every stage

of a person’s life there will be a time of

transition or change. The definition of

transition is the process or a period of

changing from one state or condition to

another. Sounds easy enough, however,

for people living with TSC who may

have special needs or complex health

issues, a time of transition may be more

challenging or difficult to navigate.

I have spoken to many parents who

have gone through the transition from

primary or high school, changing to an

adult health setting or even a transition

to a new therapist or service. Recently the

transition to NDIS has been challenging

for many of us. For parents or the

individuals involved, a time of transition

can be very daunting at the beginning as

they may be unsure of how to even start

the transition, or feel that their options

are limited.

Personally, I find speaking to others

who have gone through the same thing

or reading a personal story is very

helpful, and the advice helps you feel

like you are not the only one going

through these challenges. We also need

to remember that a time of transition

can also be positive as it may lead to

a new opportunity or turn out better

than we thought it would. I would like

to thank everyone who contributed

their stories as they will help so many

of us, and we can learn so much. Your

advice and experiences will help so

many people as they go through

similar situations.

Your advice and

experiences will help so

many people as they

go through similar

situations.

Our organisation has also had a time

of transition in the past 18 months as

we plan for the future. Our staff and

committee are always working to ensure

our organisation can grow to support the

important projects and research which

will ultimately help people living with

TSC. A constant challenge is to ensure

we have the funds, not only to run the

organisation and the information and

support service, but to also support new

projects and vital research. I would like

to thank the amazing TSC community

who have helped us to fundraise in the

past year, and we look forward to making

new connections with others who would

like to help TSA.

It was great to see so many people

attending the education events that

were held in Adelaide, Brisbane and

Sydney in September. We were very

lucky to have Professor Petrus de Vries,

who is an amazing clinician, researcher

and speaker, present the latest

information and research on TAND

- TSC Associated Neuropsychiatric

Disorders. I know many families were

able to understand more about TAND

and gain some answers to the many

questions they had.

At the Sydney event we took

the opportunity to have our Annual

General Meeting and the committee

also held a planning day to review the

strategic plan. I would like to thank

our General Manager Clare Stuart for

organising and running the education

events, and the committee for their

time and their ongoing commitment

to TSA.

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TSA News

Dr Orli Wargon receives 2018

Elizabeth Pinkerton Memorial Award

Dr Orli Wargon, a paediatric dermatologist at Sydney

Children’s Hospital, is the recipient of the 2018 Elizabeth

Pinkerton Memorial Award. This award is given annually by

Tuberous Sclerosis Australia (TSA) to a health professional in

recognition of their efforts to improve the lives of families living

with TSC in Australia. Dr Wargon is the eighth recipient of

this award and joins three others from the TSC clinic at Sydney

Children’s Hospital.

In the last few years Dr Wargon has been particularly

focussed on TSC as a part of the Treatment trial investigating the

effectiveness of topical rapamycin to treat facial angiofibromas.

Several members of the Australian TSC Community

nominated Dr Wargon for this award, including Kate Norris,

mum to Liam who has TSC:

“We’ve been in Orli Wargon’s good care since our son Liam

was a baby nearly ten years ago. Participating in Orli’s fantastically

well-run rapamycin trial was a privilege. Liam has continued to

use his ‘magic cream’ since then and his face is looking so clear.

Thank you Dr Wargon, for being at the forefront of research that’s

benefitting people with TSC in such a direct way.”

Debbie Crosby, president of TSA and Mum to Alana who

has TSC, adds:

“We are very lucky to have Orli as our dermatologist for our

daughter Alana. Orli is so knowledgeable, caring and always

explains things so well. Her leading role in the rapamycin

cream trial has helped so many families and has such a positive

impact in the lives of people living with TSC in Australia.”

We presented the award to Dr Wargon, who responded:

“I have been working with TSA for a couple of decades.

I am really honoured that you have given me this award. I

thoroughly enjoy the TSC Clinic and watching all the children

grow into adulthood. Thank you very much.”

If

you would

like to make

a nomination for

the 2019 Elizabeth

Pinkerton Memorial

Award, please visit

www.tsa.org.au/

epma

Dr Orli Wargon and Clare Stuart

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TSA News

TSC World

Conference

held in Dallas in July

Daniel Price from

Washington state, US

The TSC World Conference is held every four years by the

Tuberous Sclerosis Alliance (USA). Clare Stuart, TSA’s

General Manager, travelled to this meeting as a part of her role

with Tuberous Sclerosis Complex International (TSCi) and to

learn from TSC experts from around the world. The size of this

event is incredible, with over 900 people from over 20 countries

joining together in Dallas, Texas. Clare chaired the TSCi meeting

and also moderated a workshop on improving access to TSC

medicines around the world.

Streams covered in the conference included paediatrics,

transitions and adults, and topics ran the full spectrum of

challenges that TSC causes. The majority of sessions were video

recorded and you can watch these videos at:

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

Thank you to the Tuberous Sclerosis Alliance team and all the

sponsors of the conference for making this valuable information

resource available to the global TSC community. TSA will be

sharing specific videos on our social media pages over the next

few months. If you would like help to identify the sessions that can

help you the most, please contact our TSC information service by

calling 1300 733 435 or emailing info@tsa.org.au

Clare (2nd from right)

with TSCi members from

Hong Kong

TSCi representatives

Wave tattoos are

taking off worldwide

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Improving our

Understanding of TAND

TAND stands for tuberous sclerosis associated neuropsychiatric

disorders and includes many aspects of TSC that

impact most on a person’s daily life including behaviour, autism,

difficulties with attention, anxiety and brain skills.

Throughout August and September Professor Petrus de Vries

from the University of Cape Town, improved the knowledge of

health professionals and people living with TSC in Australia.

Events for health professionals have included grand rounds

at Sydney Children’s Hospital attended by 80 paediatricians,

the meeting of the Society for the Study of Behavioural

Phenotypes in Melbourne attended by over 400 developmental

paediatricians, along with smaller meetings with groups of

clinicians and researchers in Melbourne, Sydney and Brisbane.

TSA’s Understanding TAND educational events have taken

place in Adelaide, Brisbane and Sydney and involved local

health professionals as well as Professor de Vries connecting

with the TSC community and learning more about TAND

screening, diagnosis and management.

Based on the discussions in these meetings, TSA will be

improving our existing resources to help people living with

TAND and also help health professionals to support their

TSC patients with the many challenges that TAND has

on their lives.

Thank you to Professor de Vries for donating so much of his

time, expertise and energy to these events and to TSA’s donors and

fundraisers for their support to make these events possible.

Participants at our Understanding TAND event in Brisbane

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Personal Stories

Celebrations

What we do for fun

Brad has been playing Try Time with Quakers Hill Destroyers for the past

three years. It’s football for kids and adults with disabilities. Each Sunday

the team does training drills and then plays a game of touch football

against each other and a few parents and helpers. This year Brad has been

able to stay on the field without his dad with him, which is a massive

achievement for him. While he doesn’t like getting in the middle of the

game he loves to still be out on the field and being a part of the team.

Way to go Brad! Hayley, NSW

I had a proud mama moment earlier this year. Tyler, aged 15, who has

TSC, achieved his black belt in taekwondo after joining in June 2016.

This is such an achievement to gain his black belt in less than two

years! This is an achievement only one in one thousand people achieve.

Juliana, WA

Taylah attends pony club monthly and has two different horses she

takes out. She rides in gymkhanas and has won lots of ribbons in

jumping, novelties and dressage. She just has so much love for her

horses and they love her back.

Paula, VIC

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Personal Stories

Oliver loves spending plenty of time being active. Just some of

his after school activities include swimming with his best buddy

Tegan, riding Eddy out on the trails with Riding for the Disabled

and hanging around on the cargo net at Obstacle Course class.

The joy all these bring to us and to Oliver is immeasurable and the

skills he is learning are just as important. Jeremy, NSW

This is Lily enjoying a netball tournament with the South West

Stingers. We have training every Monday night and then three or four

tournaments around the district to compete in from June to October.

It is just so lovely to see people of all abilities given the opportunity to

participate in any kind of sport or activity. You can see how much Lily

loves being a part of a team! Huge thanks to Marg and Val for all their

efforts in coaching the team. Narelle, VIC

Aaron, who has TSC, PKD, epilepsy and kidney AMLs, has been playing squash

since mid-2015. It’s sun safe, great for fitness and the local owners are fantastic

with the junior players. Aaron had a little anxiety and I found that with him

playing in all the squash tournaments we could go to, it has helped him learn to

deal with those emotions and it has taught him resilience and sportsmanship.

He plays against juniors and adults and soon he’ll be beating me - I couldn’t be

happier when that happens. Ray, QLD

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

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Personal Stories

Our transition stories

In each issue of Reach Out we ask the tuberous sclerosis complex (TSC)

community to share their experiences with an aspect of life with TSC.

In this issue we’ve asked people to share their stories about transitions.

Liam’s story

By Selina, Liam’s mum

Ah, transitions! Don’t we parents of children with differing

abilities just love transitions! After 23 years of managing

transitions on a daily basis, I’m amazed we’re not better at them.

In fact, when I was asked to write this article, I hesitated. We have

stuffed up transitions so often, you see. But I was assured that a

personal story of our adventures with our 23 year old son Liam

would be well received, so I resolved to put fingers to keyboard. At

the very least I could help other parents know what NOT to do.

For starters, we botched Liam’s transition from school to

day support program. The school thought we were managing

the process and we thought the school was doing it. So that

was a wonderful example of a communication breakdown!

The net result was that Liam graduated and we had absolutely

One of the biggest challenges

in our son’s approach to adulthood

was his aggression and we went

through several years of violent

challenging behaviour.

nothing lined up for him to go to.

Fortunately, we are great in a crisis, and by January we

had a day support provider lined up. This was to be the first

of four day support providers we went through before finding

the right fit for Liam.

Of course, this rush job was not ideal and stressed Liam

out no end. He was already displaying TAND* behaviours and

these escalated at that time, unsurprisingly. A process that

should have taken a year was condensed into weeks, with a

predictably chaotic result.

One of the biggest challenges in our son’s approach to

adulthood was his aggression and we went through several years

of violent challenging behaviour. I’ve talked about this at length

in my blog and I am pleased to say things have settled down

nicely, and I now do a lot of volunteer work raising awareness

about family violence and the effect on siblings.

For Liam it was a confusing and stressful time, with a lot of

conflict going on in our home. We were poorly supported with

services and had nowhere near enough respite as providers were

reluctant to take him on. Neurosurgery to remove a dysplastic

right frontal pole tuber in 2013 made a huge difference to

behaviour and we all breathed a sigh of relief. The process of

maturing also brought an improvement, with negotiation skills

and impulse control really developing. It’s not all plain sailing,

but each week Liam comes home with new accomplishments and

a bit more self-mastery, which is so heartening.

We were very fortunate in transitioning from the paediatric

system to an adult service. In Tasmania we have the SHAID

clinic which is a special health care for adults with an intellectual

disability clinic. This is basically a paediatrician for adults with

complex disabilities. Liam’s medical care is coordinated by his

clinician, Professor Robyn Wallace, but she cannot order tests

in the major public hospital. Our neurologist does most of that.

When Liam needs a general anaesthetic, our neurologist is the

best person to coordinate the army of specialists who usually take

the opportunity to get in and take a look at his teeth, eyes and

kidneys. We even take blood and have been known to do flu shots

although Liam will now tolerate having these from his GP.

It will be very interesting to experience the adult system when

it comes to neurosurgery, which we will hopefully be doing later

this year. Liam’s seizures are not responding well to medication

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Personal Stories

and we are at the end of the road. A referral to the Austin in

Melbourne has been put in place so we are back for neurosurgery.

The joys! I certainly have mixed feelings, but with the technology

improving so much, it really is the best chance we have of helping

Liam. He has grown so much that I am confident he will amaze

us all with his bravery.

When thinking about Liam’s health and wellbeing, we have

evolved a multi-faceted approach. Our main focus areas are

exercise, diet, music, sexual health, relaxation and good decisions.

Exercise

Movement is crucial to Liam’s wellbeing. He is a very energetic

young man and we plan activities daily to ensure he gets

hard exercise. This includes bushwalking, swimming (he

does exercise physiology in the pool which is funded through

his NDIS package), treadmill, weights, boxing, trampette

and dancing (anything from ABBA to Skrillex – he’s pretty

eclectic!)

Diet

We aim for fresh food cooked from scratch, loads of fibre and

plenty of protein and full fat dairy (Liam struggles to gain weight).

We try to restrict packaged food, but managing his Coca Cola

habit is a full time job!

Music

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

most situations using his favourite music.

Sexual health

A current focus of ours is to teach Liam to masturbate safely

and successfully. He has been able to complete once or twice

but lacks the technique for success, so we are working on

this. Again, I refer you to my blog where I explore the issue

humorously and quite frankly – don’t say I didn’t warn you!

We are hoping this will help settle behaviour even further.

model these behaviours ourselves and we are not perfect. Our

team of carers are still wondering where he picked up the word

‘dickhead’ but there are worse words!

We always had a vision that Liam would move out of the

family home once he was an adult. During the tough years of

his adolescence, this goal was important so we could give the

younger boys a break for their most important school years.

Living away from us has been the making of Liam. His

NDIS package funding meant he was able to move first into

a private rental with another young man (not a huge success)

and most recently to an intentional community south of

Hobart, supported 24/7 by carers. This community consists

of mainly young people (ages 19-41) who engage in lots of

He has grown so much that I

am confident he will amaze us all with

his bravery.

social activities including cooking, music, parties and a

recently funded chook shed. Liam is cared for by a group of

(also mainly young) people with high energy and a variety of

interests. They bring colour and enthusiasm to his life and,

most importantly, they can go home and reenergise at the end

of their shift. They are not the exhausted parents with two

other children and full time jobs that we were.

It was hard for me to let go and I am probably still doing it, but

my son has his own life now and I’m absolutely thrilled for him.

Read more from Selina at happychinblog.wordpress.com

*Tuberous Sclerosis Associated Neuropsychiatric Disorders

Relaxation

By now, we are pretty good at detecting

when Liam is escalating and can redirect to the above

activities. We do offer the shower a lot as it’s really calming

for him (not so much for us when we get the power bill).

Massage is also something he enjoys, along with looking at

books and magazines.

Good decisions

Rather than use punitive language, we have chosen the phrase

‘good decisions’ and adopted a positive behaviour support

model for teaching the behaviour we expect from our son, now

that he is an adult. Of course, we recognise that we need to

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Personal Stories

Amelia’s story

By Sally, Amelia’s mum

My daughter, Amelia, has tuberous sclerosis complex (TSC)

and we live on the northern beaches of Sydney. The

primary impacts of TSC on Amelia are a moderate intellectual

disability, epilepsy, kidney angiomyolipomas and very early stage

lymphangioleimyomatosis.

The biggest challenges in her young years were seizure

control and behaviour issues. Seizures are relatively

well controlled now on three anti-epileptic

medications and an mTOR inhibitor,

and she no longer exhibits any

challenging behaviour. Amelia is

happy and content but happiest

when she is with her friends going

on peer outings or camps.

We have recently started

overnight respite after only

getting her out of our bedroom

this year (at 21). I honestly

thought this would never happen.

The overnight respite is going really well. The next big

transition will be to supported independent living within the

next five years.

When I reflect on the transitions Amelia has gone

through, I think that, often times, they turn out to be a lot

less stressful than you anticipate. There is a whole lot of worry

and anxiety going on that kids probably pick up on that isn’t

necessary. I’ve briefly described our experiences below.

Primary to high school

Although I was very anxious about this, Amelia coped really

well. This was particularly remarkable because, due to age

discrepancies with classmates in primary school, she didn’t

move up to high school with any of her friends.

The teacher’s aides at the school were lovely.

Unfortunately, the head of the IO unit (a class for students

with moderate intellectual disabilities) was dreadful. Shortly

after we started there, the head of the IO unit suggested

we move Amelia to a local special school. We didn’t and

questioned why she wasn’t fully across the abilities of all the

students before they commenced as we had provided IQ tests

and other reports. We escalated our concerns with this person

to the regional office of the Department of Education, a move

12

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

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Personal Stories

I strongly recommend if you don’t feel things are right.

Amelia went on to make some great friends who she still

sees regularly. She thoroughly enjoyed her time there despite

being advised that the unit wasn’t suitable for her. She stayed

there for years 7-10. Whilst Amelia was happy there, I wasn’t

happy with the school.

Amelia with our ‘new’ dog. We’ve had her for two years now because

Amelia wanted another golden retriever after the first one died.

I didn’t - but she won.

Years 11-12 - Public senior school - Freshwater High

This was an absolutely brilliant experience. Thanks to a thoroughly

committed principal, teachers and aides and a really lovely learning

environment, Amelia and the friends she moved with from the

previous high school flourished at Freshwater. There was lots of

work experience and the school went above and beyond to help us

transition to post school options.

Post school

Understandably we were very anxious about this

transition. This was with good reason: it is a big

transition for the kids from a lovely safe nurturing

environment surrounded by wonderful teachers and

friends into something quite different.

We looked at several options and elected to go with a

transition to work program at the Cerebral Palsy Alliance

(CPA). They have a lovely architect designed campus with

all the ‘bells and whistles’. At the open day we were given

quite the ‘sales pitch’ about the program being modified to

suit the participant. Unfortunately the reality did not live up

to the sales pitch. I did have a little voice in my head that said

if it sounds too good to be true, it often is. For some reason I

ignored the little voice!

I think I can safely say that from Day 1, Amelia hated it.

We persevered as we knew this was a big transition and would

involve a settling in phase. Amelia’s behaviour deteriorated

and everything became extremely stressful. I reached the end

of my tether and insisted my husband Elliott drop her off one

day. He saw what I had been experiencing and said we had to

look at other options. So that’s how we found Northside, an

option we hadn’t considered before, even though it was local.

It couldn’t be further from the CPA model if it tried. It is

located in a tired building in an industrial part of Brookvale,

staffed with wonderful people and, thankfully, a few familiar

faces. Amelia settled in but it did take some time. She was

moody and difficult for the staff for some weeks but within

a month or so gradually came around. Now, over two years

later, she’s more than happy to attend every day and loves

everyone - staff and clients.

I tried to mix things up and introduce a few days at Fighting

Chance, a local social enterprise with a great reputation and

program that also employs a number of her friends. Amelia let

me know loudly and clearly she wanted to stay at Northside. So,

for the time being, she will stay where she is.

Parents know their own children best and will soon know

if they have made the wrong decision, as we did. Luckily, with

the NDIS, it’s easy to move providers whenever you want. You

need to be confident that your child is receiving the best care

and supervision and that their needs are being met.

Amelia and her ‘boyfriend’ Joel. Yes it’s love. Her heart beats only for Joel.

13


Personal Stories

Leah’s story

Written by Clare Stuart from an Interview

with Leah Bos

live in New Zealand and work in a café and have grown up

I with tuberous sclerosis complex (TSC). I was diagnosed with

TSC when I was one year old after I had a febrile convulsion and

the doctor noticed an ash leaf spot. I have gone through two

major transitions in my life: Firstly when I was a teenager and

wanting to understand who I was and later when I had medical

complications relating to my TSC.

In my teenage years it was the emotional impacts of TSC

that affected me most. The physical signs of TSC on my skin,

facial angiofibromas, appeared but it was the emotional

wounds of not knowing what these were all about combined

with the teasing from other children that had the biggest

impact. Going through puberty triggered an identity crisis.

I wanted to know ‘why me?’ Although I didn’t blame my

parents, I did feel quite alone.

It felt like TSC was taboo in my family. I think partly this was

because my Mum didn’t know how to explain it so I understood

it and without making me upset. Even my own brothers did not

know what TSC was. I was quite withdrawn and shy as a child

and it took a lot of time for me to trust people. I was trying to

figure out who I was and went through times when I believed that

TSC would not be there when I woke up. At school I struggled

with learning and ideas seemed to go in one ear and out the

other. This was something I really noticed in high school and I

was very frustrated with myself and felt inadequate.

High school was very focussed on getting qualifications and

moving onto university. I discovered that I was a visual person

and enjoyed art history and classical studies. I could remember

things so much better if there was a visual component. Science

and Maths did my head in and I just couldn’t decode the symbols

involved. I also struggled with focus and I got distracted easily.

I also struggled with multi-tasking such as writing and listening

at the same time. I have found this has changed over time and

later in my 20s I found I was better at these things and wonder

if perhaps I should have done high school later in life! I know

now that I can learn new things if they are repetitive and precise.

People can get frustrated with me if they are not precise when

they tell me something.

Something that helped me was understanding where the

TSC lesions were in my brain. When I understood that these

lesions were stopping those parts of the brain working well I

was less hard on myself for struggling with these skills. For

example, I know that I have TSC lesions in the part of my

brain that manages emotions. Certain emotions I couldn’t

allow myself to feel or I couldn’t empathise with others. Now

I have a reason for why I am like that, it is bittersweet. I know

it’s not just me; I am not doing this on purpose. But it also

brings back that I have TSC and the challenge I face in trying

to improve my life in spite of having TSC.

I had to do my own research and it was the Tuberous

Sclerosis Australia website where I first started to learn about

TSC. This helped me to explain TSC to other people.

In my late 20s my kidneys started bleeding. I was leaning

over something at work and I had a huge pain and it hurt even

more when I sat down. I knew something wasn’t right and I

went to hospital. I did not know that I had angiomyolipomas

(AMLs) in my kidneys. After multiple embolisations I knew

that these weren’t a long term solution. I knew something

had to change or I would lose my kidneys and I could die. I

went through a fight with the New Zealand government to

access an mTOR inhibitor medicine to treat my AMLs. I was

able to get a special authority to use this medicine to treat my

brain lesions and it is working on my kidneys as well. I have

relaxed a bit now that I am on this medicine and I have some

breathing room.

I knew something had to

change or I would lose my kidneys and

I could die.

As an adult with TSC, it is really hard to find a doctor who

wants to be a champion for you. I always wondered why we don’t

have a paediatrician after childhood. I had previously had four

different doctors, one for each part of my body. At first I was

under the care of a urologist because my first admission was

for my kidney bleed which required surgery. It took a while to

understand why my nephrologist should be involved.

My nephrologist is now helping me with all aspects of my

TSC and ordering tests relating to my brain, skin and helping me

access the medicine I need. He has played an important part in

my journey with TSC as an adult. I see him frequently, including

after each MRI of my kidneys. I have moved within New Zealand

to be closer to a better medical team for my kidneys.

I have tried to talk to psychiatrists and psychologists. I

struggled to relate to them as they had no idea of what TSC

was and just didn’t understand. When I come across a good

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Personal Stories

Janet Sharp, Helen Willacy and Leah at the launch of Tuberous Sclerosis Complex New Zealand in 2014

doctor who knows about TSC, they are more of a psychiatrist

to me even though that’s not what they’re trained in.

I still struggle with when to tell people about TSC, both

I do think if TSC was

normalised earlier in my life and I

had met other people with TSC, I

may not have felt so alone for so

long and had that feeling of being

a square peg in a round hole.

When I met other adults with TSC

through the internet and then face

to face it was total acceptance and

I felt at home.

new friends and also romantic relationships. When people

meet me in real life they can see that something is different on

my skin. If I tell them straight away, it is a lot for them to take

in and sometimes I never see them again.

Grief and trauma is something I live with every day. I

imagine it is similar to what a parent goes through after they

have a child with TSC or another disability. When I think

about TSC it brings back all the pain that TSC has caused me

and it’s like a companion you can’t let go of.

Being part of a support group was huge for me. It wasn’t

around when I was younger partly because I didn’t want to

confront TSC. I know every parent is different and some will

not want to overwhelm their child with TSC because they

themselves have been overwhelmed. I do think if TSC was

normalised earlier in my life and I had met other people with

TSC, I may not have felt so alone for so long and had that

feeling of being a square peg in a round hole. When I met

other adults with TSC through the internet and then face to

face it was total acceptance and I felt at home.

I know my Mum considered taking me to a meeting with

other people with TSC but she was concerned that, because

TSC had affected me mildly, this may have a negative impact

on those families who lived with worse effects of TSC. This

sort of opportunity would have been an important part of

figuring out my identity. I think parents of children with TSC

should not be held back by these fears and it will help both the

parents and the child with TSC to heal.

I recommend that young people with TSC do talk about it

and find people that are similar to you and can relate to you.

My other recommendations for young people with TSC are to

keep busy, work on your strengths, develop your interests and

hobbies, interact with people in whatever way you can and,

most of all, try not to let TSC consume you.

I am a warrior and a survivor and I do have to jump more

hurdles than an average person without a disability, but I have

proud moments when I achieve things in my life even if this

happens later than the average person.

I know I am more resilient because of what I have gone

through because of TSC. I have found strength in educating

others and telling my story to both medical professionals and

the wider community. I am proud of those moments.

15


Information

Transitioning patients with

tuberous sclerosis complex from

paediatric to adult health care

Dr Brittany Hulbert

Thank you to Dr Hulbert for researching and writing this

article for us. Brittany is completing her internship in

Brisbane and also has a brother with TSC.

As a child with tuberous sclerosis complex (TSC) approaches

adolescence, their paediatrician needs to initiate a discussion

around their transition to adult care. A ‘transition’ is defined as

“the purposeful planned movement of adolescents and young

adults with a chronic physical and medical condition from child

centred to adult-oriented health care systems.” 1 This is an important

process which requires preparation, ideally commencing long before

the intended time of transition. There is no specific age at which

a patient must move to the adult health system. Ideally, it is an

individualised process based on the patient’s needs. However, most

paediatric clinics will plan for the transition to occur following the

completion of secondary school. 2

Ensuring a successful transition

The goal of a transition is to provide patients and families

uninterrupted, high quality care while also promoting the patient’s

sense of autonomy and wellbeing. 3

The most successful transitions are patient-centred and

individualised. Effective transition programs will include a

document that describes the patient’s individual needs and identifies

their level of understanding and independence with regards to their

medical condition.

Ideally, transitions are managed by one person or a team. Often

larger hospitals will have an appointed nurse or transition team. For

example, The Sydney Children’s Hospital Network has a transition

service called Trapeze that works with the patient to ensure they are

prepared to move to adult care, and the Royal Children’s Hospital in

Melbourne has a transition support service that functions similarly.

These teams carry out supportive roles and health coaching, as well

as coordinating the transfer of information between the specialists,

patients and their general practitioners.

Despite this general framework and knowledge of the purpose

of a transition, this period is often associated with deterioration in

the health of young people with chronic health conditions. 4 The

complexity of TSC makes the transition even more challenging.

Awareness of the issues around transition has grown, as

more and more children with chronic medical conditions

progress to adulthood. In some countries, adolescent health

has increasingly become recognised as a specialty within

paediatrics for this reason.

How management of TSC changes from early life

to adulthood

TSC causes signs and symptoms in many different parts of the body

that can vary depending on the patient’s age. 5 As a child with TSC

approaches adulthood, the focus of management often shifts from

seizure control to kidney health and psychiatric conditions. 6 The

complexity of TSC requires an understanding of the various TSCrelated

complications that can occur throughout life.

In the neonatal and early childhood period, the most

common signs and symptoms of TSC are cardiac rhabdomyomas,

retinal hamartomas in the eyes and tubers and subependymal

nodules in the brain. The prevalence of these can change with

time - cardiac rhabdomyomas often regress with age and

rarely cause symptoms, while retinal hamartomas can appear

at any age. 7 Seizures often begin in the neonatal period or in

childhood and, while they can be managed with anti-epileptic

medication or surgery, up to one third of patients with TSC

will have refractory seizures. 8 Poorly controlled epilepsy can

lead to an increased risk of developmental delay, cognitive and

neuropsychiatric disorders which have different implications

in different age groups. Intellectual disability occurs in about

50 percent of people with TSC, which can subsequently affect

the level of support needed in school and work as an individual

grows up. 9 Pulmonary lymphangioleiomyomatosis can develop

post puberty and will require monitoring.

TSC-associated neuropsychiatric disorders (TAND)

describe the behavioural, intellectual and neuropsychiatric

disorders that can emerge as a consequence of TSC. Symptoms

of TAND are often unique to the individual and can evolve

with age, requiring regular reassessments. 10 Symptoms

of autism spectrum disorder and attention deficit and

hyperactivity disorder can be difficult to manage, and can

affect an individual’s ability to participate in school activities

and employment.

Regular follow up is important in the paediatric population,

as the physical manifestations of TSC vary with the patient’s

age. Renal angiomyolipomas and skin and nail lesions often

emerge in childhood as well but can grow with time, whereas new

subependymal giant cell astrocytomas in the brain become less

likely once one reaches adulthood. Surveillance of these lesions

is recommended every one to three years in children, however,

screening with MRIs of the brain is not typically continued past

age 25. 11 While children are under the care of their parents and

a paediatrician who has potentially been with them since birth

and provided comfortable and regular follow up, transitioning

to adult care may increase the likelihood that these follow up

consults are lost.

Adolescent medicine, TSC and navigating

adult health systems

It is important to be aware that, although the focus of health

professionals is often on the various ways TSC affects a person, the

patient being seen is also an adolescent becoming a young adult.

Understanding the ‘developmental tasks’ of adolescents is vital to the

delivery of appropriate health care. These tasks include development

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Personal Information Stories

of identity separate from their parents, determining the level of

independence from parents, forming deeper relationships with

peers, developing a system of values, increasing cognitive and social

skills and establishing skills for intimate relationships. 12

Medical conditions such as TSC, previously thought to be

primarily of paediatric concern are increasingly entering into the

realm of adult physicians, who may have less experience treating

these conditions than their paediatric colleagues. Evidence from

adolescent patients with other chronic medical conditions tells us

that loss to follow up and poor health outcomes are common. Adult

care is often more fragmented and less holistic than paediatric care,

and this can be a source of concern for people with TSC and their

parents. Parents are often worried that adult physicians may know

less about TSC than their child’s paediatrician, and that they also

tended to focus less on the patient’s psychosocial issues. 13 With high

rates (45%) of psychological distress found in people with TSC, this

is an important aspect of the condition to be addressed regularly. 14

The logistics of seeing several different adult specialists can be

difficult to navigate. Some children’s hospitals have TSC clinics where

patients can see a variety of specialists and allied health professionals

on the one day, facilitating a multidisciplinary approach to care.

More often these arrangements simply do not exist in adult hospitals,

which then requires the patient to visit specialists individually and

potentially on separate days, increasing the risk of loss to follow up. At

At the same time parents

are also adjusting their approach to

caring for their child who, as a young

adult, may wish for more autonomy

and self-sufficiency in their care.

the same time parents are also adjusting their approach to caring for

their child who, as a young adult, may wish for more autonomy and

self-sufficiency in their care. Although ‘guided self-management’ on

the patient’s part is an important part of a successful transition, this is

not always possible with TSC due to the varied ability to self-manage

and function independently from parents or caregivers.

Preparing for a transition to adulthood and

current practice

Early, ongoing and structured preparation is the key to a successful

transition. Discussions around this should ideally begin in early

adolescence and continue at regular intervals. Transitioning should

be seen as a normal part of an adolescent’s overall health care plan.

It should be prioritised in a person-centred manner based on what

is important to the patient. 15 Referrals to adult physicians should be

done well before the intended date of the appointment, as waiting

lists can be long - up to a year or more. Most children’s hospitals

will have a transition coordinator or team who can facilitate the

medical as well as social transition. In individuals who are able,

self-management skills can be gradually learned by attending

doctor consultations without their parents, if only for part of the

appointment. 16 Many patients with TSC will be unable to live

independently and planning for this should be discussed with

their transition team. This includes a discussion around powers of

attorney, advanced care planning and financial supports.

Typically the paediatrician and adult physician will have an overlap

year in which the patient will still see their regular paediatric neurologist

or specialist, but also see the adult physician at the same time. 17 This can

help the patient get used to a new hospital and new faces, and reduce

anxiety that can come from moving out of their comfort zone. Similarly,

if there are any issues that the patient is having with accessing adult

services, these can be discussed while they are still linked in to their

paediatrician. Some paediatricians will continue to see patients past the

typical age of transition due to the complexity of their TSC or difficulty

managing their care in the adult services.

Checklists are often employed by transition teams to help the

patient identify their needs and assess their readiness to transfer.

Checklists can help identify patients who may be at risk and establish

an objective view of what the patient already knows and what should

be discussed further. For example, the Royal Children’s Hospital

in Melbourne uses a checklist to assess whether the adolescent

understands their condition and medications, is able to help

themselves in an emergency and has adequate supports to ensure a

healthy lifestyle. 18 This is especially important with TSC where there

is a wide spectrum of ability to self-manage and be independent.

While it may seem simplistic, checklists provide an easy way to

prevent patients from falling through the cracks by necessitating a

discussion around specific issues that may otherwise be forgotten.

Maintaining continuity of care between

health professionals

Most transition policies recommend that a health care summary

is passed to the receiving specialist when the patient is referred to

them. Some hospitals have templates but not all specialties have their

own tailored transition document. This is an important piece of

information that should summarise the patient’s diagnosis, medical

history, complications, current and previous medications, surgical

history and social situation.

It is also important that the GP is involved in this process.

They can provide continuity of care throughout the transition and

be involved in ensuring the individual is able to live a healthy and

fulfilling life. Further, the GP may be involved in locating neurologists

or other specialists within the patient’s local area. They will have

been involved throughout the child’s life and have a historical record

of the patient’s hospital appointments with specialists and hospital

admissions on file. The GP is a valuable constant during a time of

change. Unfortunately, many people with chronic health conditions

requiring specialist attention do not have a regular GP.

Potential improvements in the process

Transition clinics involving the paediatrician and adult physician

collaborating side by side could be one way to facilitate the process.

Successful transition clinics in other countries have shared

several key attributes - a formal transition process, persistent and

dedicated health care staff, sufficient staff, and a close working

relationship between the paediatricians and adult physicians. 19

However, studies of multidisciplinary transition clinics have also

found that financial costs and organisational barriers were difficult

to work with and could risk the long term success and expansion of

these clinics. 20 These barriers, however, may be representative of a

general lack of knowledge as to how important this period is to the

long term health of individuals with chronic medical conditions.

A specialised TSC clinic for young adult patients could be one way

to ease the transition for patients and facilitate communication

between specialties. This has been implemented at Sydney

Children’s Hospital with great success.

Adolescence is a period rife with changes for all young

17


Information

people. Transitioning to adult care can be difficult but it is

part of growing up and becoming an independent and unique

individual. Although health care workers and hospitals are

becoming more aware of the importance of adolescent medicine

and managing effective transitions to adult care, there is still

room for improvement. TSC is a complex condition and a

successful transition to adult care will likely require active

involvement from health care workers, parents and patients.

1 Society for Adolescent Medicine (1993), Transition from paediatric

to adult-oriented health care systems for adolescents with chronic

conditions: A position paper. Journal of Adolescent Health 1993;

14:570–576, p.570.

2 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.

(2007). Young people with chronic illness: The approach to

transition. Internal medicine journal, 37(8), 555-560.

There is no specific age at which

a patient must move to the adult health

system. Ideally, it is an individualised

process based on the patient’s needs.

However, most paediatric clinics will plan

for the transition to occur following the

completion of secondary school.

12 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.

(2007). Young people with chronic illness: The approach to

transition. Internal medicine journal, 37(8), 555-560.

13 Both, P., ten Holt, L., Mous, S., Patist, J., Rietman, A., Dieleman,

G., ... & Moll, H. (2018). Tuberous sclerosis complex: Concerns

and needs of patients and parents from the transitional period to

adulthood. Epilepsy & Behavior, 83, 13-21.

14 Pulsifer, M. B., Winterkorn, E. B., & Thiele, E. A. (2007).

Psychological profile of adults with tuberous sclerosis

complex. Epilepsy & Behavior, 10(3), 402-406.

15 Gleeson, H., & Turner, G. (2012). Transition to adult

services. Archives of Disease in Childhood-Education and

Practice, 97(3), 86-92.

16 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.

(2007). Young people with chronic illness: The approach to

transition. Internal medicine journal, 37(8), 555-560.

17 Kate Munro, Neurology CNC, Neurosciences, Lady Cilento

Children’s Hospital (Pers. Comm.)

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

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

Adolescent_Transition_checklist_1.pdf

19 Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M.

(2007). Young people with chronic illness: The approach to

transition. Internal medicine journal, 37(8), 555-560.

20 Carrizosa, J., An, I., Appleton, R., Camfield, P., & Von Moers, A.

(2014). Models for transition clinics. Epilepsia, 55, 46-51.

3 McDonagh, J. E. (2005). Growing up and moving on: transition from

pediatric to adult care. Pediatric transplantation, 9(3), 364-372.

4 Busse, F. P., Hiermann, P., Galler, A., Stumvoll, M., Wiessner, T.,

Kiess, W., & Kapellen, T. M. (2007). Evaluation of patients’ opinion

and metabolic control after transfer of young adults with type 1

diabetes from a pediatric diabetes clinic to adult care. Hormone

Research in Paediatrics, 67(3), 132-138.

5 Frost, M., & Hulbert, J. (2015). Clinical management of tuberous

sclerosis complex over the lifetime of a patient. Pediatric health,

medicine and therapeutics, 6, 139.

6 Thiele, E. A., Granata, T., Matricardi, S., & Chugani, H. T. (2014).

Transition into adulthood: Tuberous sclerosis complex, Sturge‐Weber

syndrome, and Rasmussen encephalitis. Epilepsia, 55, 29-33.

7 Frost, M., & Hulbert, J. (2015). Clinical management of tuberous

sclerosis complex over the lifetime of a patient. Pediatric health,

medicine and therapeutics, 6, 139.

8 Krueger, D., et al. (2013). Everolimus treatment of refractory epilepsy

in tuberous sclerosis complex. Annals of Neurology, 74(5), 679-687.

9 De Vries, P. J., Whittemore, V. H., Leclezio, L., Byars, A. W.,

Dunn, D., Ess, K. C., ... & Jansen, A. (2015). Tuberous sclerosis

associated neuropsychiatric disorders (TAND) and the TAND

Checklist. Pediatric neurology, 52(1), 25-35.

10 Ibid.

11 Krueger, D. A., Northrup, H., Roberds, S., Smith, K., Sampson,

J., Korf, B., ... & de Vries, P. (2013). Tuberous sclerosis complex

surveillance and management: Recommendations of the

2012 International Tuberous Sclerosis Complex Consensus

Conference. Pediatric neurology, 49(4), 255-265.

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Research

Tips for working with your GP

At our recent Understanding TAND event in Adelaide, Dr

Jessica Smith from Adelaide Disability Medical shared

her advice on how to involve a GP in health core of a person

with TSC. We’ve combined this with advice offered by the TSC

families at the event.

Find a GP that you can work with.

You may like to consider whether you feel comfortable talking to

them and whether they are interested in TSC and willing to learn.

See the same GP.

Continuity of care is really helpful, so try not to switch between GPs

or practices. This should also be part of the care provided to adults

living in supported accommodation.

Involve your GP during childhood.

Even if you have a paediatrician that you see regularly, aim

to keep your GP in the loop on tests and treatments. This

may mean ensuring letters are also sent to them and booking

appointments just to keep them up to date. When the time

comes to start transitioning away from paediatric services and

your paediatrician, your GP will be more familiar with you

and your TSC.

Book a long consultation.

For anything other than a minor issue, or when you have

more than one topic to discuss, consider booking a long

consultation. This will help your GP give you enough time and

not be worried about making them run late for their

other patients.

Drip feed your GP information.

They may need time to get familiar with the complexities of

TSC and how it affects your life. Share information about

TSC with them, including the management and surveillance

guidelines for TSC.

Dr Jessica Smith speaking in Adelaide about the role of a GP

19


Research

Research News

International topical rapamycin clinical trial

This research developed a topical cream to treat the small tumours

that grow on the face of people with tuberous sclerosis complex.

While these tumours, called angiofibromas, do not cause as

many medical issues as the tumours on internal organs, they

are a constant reminder of how a person with TSC is different to

everyone else.

Our dedicated team at Sydney Children’s Hospital, led by

Drs Orli Wargon and David Mowat, were the only international

site in this multi-centre trial and joined other TSC centres of

excellence around the USA to complete the study. The project

was funded by over $200,000 raised through hundreds of

donations and fundraising efforts of members of Tuberous

Sclerosis Australia (TSA).

This project is the largest randomised clinical trial into this

treatment for angiofibromas. The trial showed that 80 percent

of people using the cream experienced significant improvement.

The study also showed that the medicine is not absorbed into the

bloodstream, which means this cream brings few risks of side

effects. The cream offers a safe and cost-effective alternative to

painful repeated laser surgery that, until recently, was the only

option for these disfiguring growths.

The medicine is not yet fully funded in Australia. TSA will

use these study results in our continued work to improve access

and affordability of the cream. People with TSC can find out more

about how to access the cream on our online information page at

www.tsa.org.au/topicalfaq

A huge thank you to all of the families who participated in the

trial which included many study visits and blood tests.

We also acknowledge the dedication of everyone who

contributed to the fundraising campaign that made this

trial possible – particularly the efforts of the Fundraising

Friends committee including Debbie and Daimon Duffy, Matt

Cashmore, Mark Gold, Nicole Moog, Kathryn Kennedy, Hayley

Hill and Sue Pinkerton.

Koenig, M. K. et al. Efficacy and safety of topical rapamycin in

patients with facial angiofibromas secondary to tuberous sclerosis

complex: The treatment randomized clinical trial. JAMA dermatology

154, 773-780, doi:10.1001/jamadermatol.2018.0464 (2018).

Australian research into TSC and autism continues

Dr Bec Mitchell continues her valuable work on the DOTS* study

that is increasing our knowledge of the risk factors for autism in

children with TSC and of possible interventions for children at

risk of autism. Dr Mitchell is a developmental paediatrician at

Royal Children’s Hospital in Melbourne and is working with Dr

Simon Harvey and Dr Katrina Williams.

More than 30 children have

been through detailed developmental

assessments and reviews as part of

this project. We are grateful to the

families who have taken the time to

be a part of this.

Dr Mitchell has completed an analysis of existing work in

this area to understand what we can learn by combining results

of multiple small studies. For example, are children who have

seizures more likely to be later diagnosed with autism? Does a

higher number of tubers in a child’s brain increase the child’s risk

of autism? Do the genetic changes in TSC1 or TSC2 mean a child

is more likely to develop autism?

Understanding which children with TSC are at greatest

risk of autism may help these children access earlier

interventions such as parent coaching and speech and language

interventions. We may also learn more about whether there are

specific interventions for these children that can reduce their

developmental delays or their risk of autism.

More than 30 children have been through detailed developmental

assessments and reviews as part of this project. We are grateful to the

families who have taken the time to be a part of this. Thank you to the

Romios family for fundraising for this project in honour of their son

Kristian and also to the University of Melbourne for funding

Dr Mitchell’s PhD through the Leslie Eric Paddle scholarship.

We look forward to sharing more about Dr Mitchell’s work as

it is published.

Watch Dr Mitchell talk about this study and early

development in children with TSC at www.tsa.org.au/DOTS

*Development outcomes of children with tuberous sclerosis

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Research

Study suggests that mTOR inhibitor medicines safe in

younger children with TSC

An international collaboration has combined data from 60

children younger than two years of age with TSC who have taken

an mTOR inhibitor medicine (everolimus or sirolimus). Sydney

Children’s Hospital collaborated with centres in the USA, Europe,

the Middle East and South America.

This study found that younger children were being prescribed

these medicines most commonly for epilepsy (45%), SEGAs (39%)

and rhabdomyomas (7%), with many doctors reporting they have

prescribed these medicines to treat multiple signs of TSC in the

one child.

Overall the study found the side effects of the medicine were

similar in younger children as in other age groups. Mouth ulcers

and infections were the most common side effects reported. Many

doctors reported that side effects were managed by temporarily

stopping treatment and also by changing from everolimus to

sirolimus or vice versa.

The study did not aim to measure whether the medicine was

effective for treating signs and symptoms of TSC. However the

study did find that over 60% of patients reported at least a partial

positive response. The study has significant limitations, including

that it is relatively small study, relies on the recall and record

keeping of various TSC centres and included a very large number

of children from one US centre.

This is an important study that documents how these

medicines are being used in younger children. This can help

doctors treating younger children with TSC today and also may

An international collaboration has

combined data from 60 children younger

than two years of age with TSC who

have taken an mTOR inhibitor medicine

(everolimus or sirolimus).

be a foundation for future research that uses these medicines

before signs and symptoms of TSC have progressed.

Congratulations to Dr John Lawson and Dr David Mowat on

this publication.

Krueger DA, et al., Short-term safety of mTOR inhibitors in

infants and very young children with tuberous sclerosis complex

(TSC): Multicentre clinical experience, European Journal of Paediatric

Neurology (2018), https://doi.org/10.1016/j.ejpn.2018.06.007

Dr David Mowat and Dr Orli Wargon

21


Fundraising

Snapshot

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

Tuberous Sclerosis Australia. Your generosity allows us to keep supporting

Australian TSC families.

Did you know we don’t receive any government funding to provide our busy

information and support services? And that our Australian TSC researchers are

waiting for us to fund their latest projects?

If you aren’t already involved in fundraising, we’d love to help you to get

involved. To learn more about our fundraising projects or to talk about your

own ideas, please call us on 1300 733 435 or email kate.garrard@tsa.org.au

TSC Global Awareness Day

May 15 was Global Awareness Day for tuberous sclerosis complex. We had awareness

and fundraising events across the country in workplaces, homes and schools.

Thank you to our wonderful volunteers and donors for supporting the first

#Tatts4TSC to celebrate TSC Global Awareness Day. We loved seeing photos of all

your wave tattoos.

Almost $3,000 was raised to help individuals and families affected by TSC. We

are thrilled so many of you shared your TSC stories of learning to ride the TSC

waves, including the occasional tsunamis. We look forward to a bigger and better

#Tatts4TSC in 2019.

Christy and Cooper

Melissa

Our newest TSC Hero joins our Sydney City2Surf

and Bridge2Brisbane team

Melissa signed up to run in Sydney’s City2Surf on 12 August 2018. She was

inspired by her dear friends, Amber and Yvette, whose gorgeous little boy

Samuel has been diagnosed with TSC. Melissa says, “I can’t do anything to change

Samuel’s diagnosis, but I can help raise funds and spread awareness”. Melissa, with

other TSC Heroes Michelle, Sophie, Antony and Tash, have raised over $5,000 in this

year’s City2Surf. What a great effort! Melissa also joined the Bridge2Brisbane fun run

on 26 August along with our long standing supporters Miranda and Kerri. Together

these TSC Heroes raised over $820. Another great effort!

Sign up to be a TSC Hero

Do you run, walk, swim, cycle? Why not join our TSC Hero team and participate in a

fun run, marathon or even a triathlon. Our TSC Hero teams are all around the country

raising vital funds for TSA’s information, support and research projects. We can help you to

become a hero too. Get started by following our TSC Heroes Facebook page, sign up to an

event in your city and engage with your family and friends to make donations. We’ll send

you a TSC Heroes T-shirt and support you in your fundraising efforts

Miranda and her team of TSC Heros

22

Reach

Out

OCTOBER 2018 ISSUE 108


Fundraising

Emma

Christmas in July

Little Emma’s journey with TSC

inspired her local community to

raise funds for TSA at a Christmas in July

fundraiser on 21 July at Padstow Bowling

and Snooker Club. Special thanks to

Emma’s grandparents, John and Donna,

for rallying over 150 people to get together

and support people living with TSC. Just

over $11,000 was donated to TSA. Well

done and thank you so much.

Lizzie’s Lunch

Thank you

massive thank you to everyone

A who so generously supported our

tax time appeal. Brody’s gorgeous face

helped spread our message and we thank

his family for sharing his photo and

their story with us. Over $13,000 was

donated in June. This will greatly assist

us in our work helping individuals and

families affected by TSC. We especially

welcome our new members who joined

TSA as part of this appeal. Thank you!

Brody

Lizzie’s Lunch

We celebrated the fifth annual

Lizzie’s Lunch fundraiser on

Sunday 3 June at the Hills Lodge, Castle

Hill. Thank you to Sue Pinkerton and

everyone who came along and helped raise

just over $19,000. It was wonderful to have

our TSC paralympian Taylor Doyle and

her mum Shireen join us this year. Our

thanks to Shireen for sharing her story

about her family’s life with TSC.

Treatment Trial

Treatment trial publication

To celebrate the publication of the topical rapamycin treatment trial TSA

hosted a small thank you event at Sydney Children’s Hospital. We would

like to thank everyone who was involved in this research, especially Dr David

Mowat and Dr Orli Wargon and the rest of the TSC multidisciplinary team at

Sydney Children’s Hospital, Randwick.

It was the combined efforts of our TSC community in raising

over $200,000 that ensured Australia could participate in this ground

breaking research.

IBM alumni luncheon

group of his former colleagues joined our Treasurer and TSC grandfather, Patrick

A Norris, for lunch recently. The group generously made a donation of $400 to TSA.

Thanks IBM old boys!

Join TSA

I

f running marathons isn’t your thing, please consider making an annual contribution

through a membership of TSA. Thank you to everyone who already supports TSA in this way.

Memberships start from just $25 per year and all of our members receive a printed copy

of Reach Out. Plus you get to experience that wonderful feeling of knowing you’ve joined an

organisation dedicated to helping Australians living with this devastating rare disease. It’s

easy to become a member today at www.tsa.org.au/join

Thanks Rotary

We are thrilled to have received a

generous contribution of $2,000

from the Rotary Club of Orange Daybreak

following Clare Stuart’s presentation

on TSC Global Awareness Day. If you

know anyone in your local Rotary or

Lions Club, please consider approaching

them to talk about your experiences

with TSC. These service clubs are

wonderful supporters of so many worthy

organisations – help us throw our hat in

the ring.

Thank you again to all our supporters for your extraordinary help. YOU make a

difference to people living with TSC. We couldn’t do it without you.

23


Celebrating the first Australian Comedy for a Cure

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

research through their annual Comedy for a Cure event. Now Australians have

joined in the fun. Thank you to everyone who came along to our first Australian

Comedy for a Cure.

Saturday

6 October 2018

Athenaeum Theatre, Upstairs

188 Collins Street, Melbourne

www.comedyforacure.org.au

THANK YOU

TO ALL OUR

VICTORIAN TSC

FAMILIES, OUR

PRIZE DONORS

AND OUR

SUPPORTERS.

Comedy for a Cure will help TSA raise vital funds towards a cure for TSC.

We aim to raise over $20,000 in the first year to invest in ground-breaking TSC research

happening right here in Australia.

Thank you to our dedicated volunteers from our Victorian TSC community that have made

this event a reality: Alison McIvor, Jen McCartin, Kate Green, Eryn Budgen and Narelle Kerr.

This issue of Reach Out is sponsored by the generous donation of the

Rotary Club of Orange Daybreak.

Thank you for recognising the importance of Reach Out in the lives of

thousands of Australian families living with TSC.

Read more about this amazing service club at

www.rotaryorangedaybreak.org.au

Do you know a business, organisation or individual who would like to sponsor

an issue of Reach Out? Contact us on 1300 733 435 to find out more.

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