Reach Out October 2019

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<strong>Reach</strong><br />

<strong>Out</strong><br />

OCTOBER <strong>2019</strong> ISSUE 110<br />

TSC Connect<br />

p8<br />

Our new<br />

nurse p6<br />

Research<br />

updates<br />

p17-20<br />


TSA News<br />

Contents<br />

Editorial................................................................................................. 3<br />

President’s Report................................................................................. 4<br />

Six Months In ....................................................................................... 5<br />

Communities Connecting for TSC Global<br />

Awareness Day <strong>2019</strong>............................................................................14<br />

Connecting with Other Organisations.............................................16<br />

Connecting Through Technology ..................................................... 6<br />

Welcome Kim........................................................................................ 7<br />

TSC Connect, Brisbane........................................................................ 8<br />

The Value of Connections................................................................... 9<br />

Our Financial Results..........................................................................10<br />

EPISTOP: International Research Results on Epilepsy...................17<br />

Research News.....................................................................................18<br />

Australian Families’ Experience with a TSC Diagnosis................. 20<br />

Congratulations to Dr Fiona McKenzie............................................21<br />

The Impact of your Support.............................................................. 13<br />

Snapshot............................................................................................... 22<br />

Our cover image is of participants at the TSC Connect event in Brisbane in May <strong>2019</strong>.<br />

Tuberous Sclerosis Complex<br />

(TSC) affects more than 2000 individuals in<br />

Australia and thousands more carers, families and friends<br />

who live with the impact of the disease.<br />

TSC tumours can grow in any organ of the body, commonly affecting<br />

the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy,<br />

developmental delay and autism. There is no known cure for TSC, but<br />

with appropriate support most people with TSC can live fulfilling lives.<br />

Tuberous Sclerosis Australia<br />

Works to connect, inform and empower people affected by tuberous<br />

sclerosis complex as we work towards a cure for TSC.<br />

TSA was established in 1981 as a volunteer organisation to connect families<br />

living with TSC. We have hundreds of members including people with TSC and<br />

their families along with health, education and caring professionals.<br />

Our priorities<br />

1. Ensure Australians with TSC have access to the best possible healthcare<br />

2. Provide up to date and accurate information to all Australians with TSC<br />

3. Support individuals and families affected by so no one has to face the<br />

challenges of TSC alone<br />

4. Promote access in Australia to the gobal research program that is working<br />

towards a cure for TSC<br />

President Debbie Crosby<br />

Vice President Michelle Purkiss<br />

Committee Member<br />

Treasurer Patrick Norris<br />

Secretary Alison McIvor<br />

Michael Jones<br />

Public Officer Debbie Crosby<br />

Medical Advisory Board Dr David Mowat,<br />

Clinical Geneticist<br />

General Manager<br />

Fundraising and<br />

Communications<br />

Dr John Lawson,<br />

Paediatric Neurologist<br />

Dr Sean Kennedy<br />

Paediatric Nephrologist<br />

Jackie Gambrell<br />

Kate Garrard<br />

The TSC Information Service<br />

Visit our website for extensive information about TSC for individuals, their families<br />

and professionals www.tsa.org.au<br />

Call or email us to speak to one of our volunteers. We have regional contacts throughout<br />

Australia who can meet face to face and connect you with local services. 1300 733 435<br />

TSA Nurse<br />

This is a free, confidential information and support service for those in Australia. You can speak<br />

with our Nurse about any TSC-related questions or concerns you have. Email nurse@tsa.org.au<br />

Not in Australia or New Zealand?<br />

TSA is a founding member of Tuberous Sclerosis Complex International, a<br />

worldwide association of TSC organisations. The TSCi website contains<br />

a directory of TSC organisations around the world<br />

www.tscinternational.org<br />

2<br />

<strong>Reach</strong><br />

<strong>Out</strong><br />

OCTOBER <strong>2019</strong> ISSUE 110

TSA News<br />

Editorial<br />

Teresa Llewellyn-Evans<br />

Welcome to the <strong>October</strong> <strong>2019</strong> issue<br />

of <strong>Reach</strong> <strong>Out</strong>. This issue highlights<br />

the importance of connections. My<br />

son David had Hunter syndrome or<br />

Mucopolysaccharidosis type 2 (MPS II)<br />

and some of my closest friendships have<br />

come from a shared experience of MPS and<br />

with those who supported us on our journey.<br />

You too might make lasting connections with<br />

like-minded people by engaging with the<br />

TSC community.<br />

Tuberous Sclerosis Australia (TSA) was established in 1981 as<br />

a volunteer organisation to connect families living with tuberous<br />

sclerosis complex (TSC). And today TSA still works to connect,<br />

inform and empower people affected by TSC as we work towards<br />

a cure for TSC.<br />

A diagnosis of tuberous sclerosis can be very isolating.<br />

Connecting with others can provide support and help break<br />

down this feeling of isolation. Debbie Crosby describes it in the<br />

following way in her president’s report on page 4: “…connections<br />

with others…are so vitally important when facing the challenges<br />

of life with TSC…it often helps me remember that my family is<br />

not the only one going through these challenges.”<br />

Connecting is important at all stages of life. Read about our<br />

first ever TSC Connect event for adults living with TSC held in<br />

Brisbane in May and Penny McKee’s reflection on this event on<br />

pages 8-9.<br />

Members of our TSC community can also connect through<br />

our closed Facebook group, which is only open to those affected<br />

by TSC. Find out more on page 9.<br />

TSA’s new nurse service will make<br />

connecting to the support and information<br />

you need even easier. Kim will be able to<br />

support you with information, links to<br />

practical support and help you to live well<br />

with TSC. Read more about the service and<br />

Kim on pages 6-7.<br />

Our Celebrations section highlights the<br />

many ways our TSC community connected for<br />

TSC Global Awareness Day on 15 May this year. Read<br />

more about pyjama days in Tasmania, morning teas in<br />

Victoria, dinners in Perth and online Facebook campaigns, as well<br />

as many people taking selfies wearing their wave tattoos on pages<br />

14-15.<br />

Our fundraising snapshot highlights some of the wonderful<br />

ways our TSC community connects to raise much needed funds for<br />

TSA including entertainment evenings, lunches, appeals, grants,<br />

memberships, TSC Hero events and more (see pages 22-23).<br />

Connecting with other rare disease and patient organisations<br />

to share expertise and knowledge is also important. Jackie, our<br />

new General Manager, describes two recent events where TSA<br />

connected with 100 charities across Australia at the inaugural<br />

Australian Patient Organisation Network (APON) Conference in<br />

Sydney, and with 25 international TSC patient associations at the<br />

TSC International Research Conference in Toronto. Read more<br />

about this on page 16.<br />

And, of course, we will continue to connect you to the latest<br />

local and international TSC research. You will find this on pages<br />

17-20.<br />

Enjoy!<br />

<strong>Reach</strong> <strong>Out</strong> Official Journal of Tuberous Sclerosis<br />

Australia, Inc.<br />

18 Central Rd, Beverly Hills NSW 2209<br />

Telephone: 1300 733 435<br />

Website: www.tsa.org.au<br />

Email: info@tsa.org.au<br />

ABN 20 681 174 734<br />

Incorporation no. Y 07116-42<br />

Registered Charity CC25313<br />

<strong>Reach</strong> <strong>Out</strong> Editor: Teresa Llewellyn-Evans<br />

Disclaimer<br />

The opinions expressed in this journal are those of the<br />

authors and are not official pronouncements of TSA Inc.<br />

Permission<br />

Permission must be sought from the authors or publishers<br />

to reproduce in any way articles or information contained<br />

in this journal. Once permission is received the source must<br />

be acknowledged.<br />


TSA News<br />

President’s Report<br />

Debbie Crosby, President<br />

Welcome to our <strong>October</strong> <strong>2019</strong> issue<br />

of <strong>Reach</strong> <strong>Out</strong>. Connections is<br />

the theme for this issue and so it is very<br />

fitting that our first ever TSC Connect<br />

event for adults living with TSC was held<br />

in Brisbane in May. It was wonderful to<br />

meet everyone and share personal stories<br />

and information. I thank you for your<br />

passion and commitment and I’m sure<br />

some strong and lasting connections were<br />

made among the group. Thanks also to<br />

Nikky Isbel, Consultant Nephrologist at<br />

Princess Alexandra Hospital, and Megan<br />

Higgins, Clinical Geneticist with Genetic<br />

Health Queensland, who generously gave<br />

up their weekend to present to the group.<br />

As a community we are fortunate to have<br />

such committed health professionals<br />

working alongside us.<br />

I would also like to thank our new<br />

General Manager, Jackie Gambrell, who<br />

hit the ground running and organised<br />

this fantastic event. Jackie has been very<br />

busy since joining TSA and, as all of you<br />

know, TSC is such a complex disease to<br />

understand and there is so much to learn.<br />

It has been an exciting time to have her<br />

join the organisation, as we improve and<br />

grow our services.<br />

In June this year we held our biggest<br />

Lizzie’s Lunch event, with over 120<br />

people connecting for our cause. It was a<br />

fabulous day with Master of Ceremonies<br />

Ron Wilson, and we raised more than<br />

$22,000 for TSA. Once again, we are<br />

indebted to Sue Pinkerton and her<br />

amazing family and friends for making<br />

this event happen. Sue, you just keep<br />

rising to the challenge to make it bigger<br />

and better every year!<br />

I’m really looking forward to our<br />

next major fundraiser, Comedy for a<br />

Cure, in Sydney. We have a top class line<br />

up of comedians so, if you haven’t yet<br />

got your tickets then you’d better hurry.<br />

It’s sure to be a fabulously funny night.<br />

Again, thanks to the team who have been<br />

working tirelessly to make this happen,<br />

in particular, Rob McHugh, Kate Garrard<br />

and Michelle Purkiss.<br />

Connections with<br />

others – be it family,<br />

friends or members of our<br />

community - are so vitally<br />

important when facing<br />

the challenges of life with<br />

TSC…It often helps me<br />

remember that my family<br />

is not the only one going<br />

through these challenges.<br />

It is with sadness, but understanding,<br />

that we’ve seen two of our TSA committee<br />

members stand down in the last six<br />

months to focus on other personal<br />

priorities. Kate Veach and Georgie Schilg,<br />

both mothers of children with TSC,<br />

contributed an enormous amount during<br />

their time on the committee and we thank<br />

them both. Ensuring the committee is<br />

represented by people living with TSC<br />

or have a TSC connection is important<br />

and assists us to ensure TSA continues to<br />

support the TSC community successfully.<br />

As we all know, connections with<br />

others – be it family, friends or members<br />

of our community - are so vitally<br />

important when facing the challenges<br />

of life with TSC. Personally, as a mother<br />

of a child with TSC, I find speaking to<br />

or hearing from others who have gone<br />

through the same or similar experiences<br />

very helpful. Importantly, it often helps<br />

me remember that my family is not the<br />

only one going through these challenges.<br />

TSA is committed to connecting<br />

with all those whose lives are affected by<br />

TSC. In 2020 we are planning another<br />

connect event for families and adults from<br />

around Australia who are living with TSC<br />

as well as members of our TSC health<br />

professionals community. We’re also<br />

thankful for the financial support from<br />

Lotterywest for a planned TSC event in<br />

Perth next year.<br />

We look forward to continuing to<br />

connect with you to share your stories<br />

and information. I’d like to thank<br />

the continuing members of the TSA<br />

committee – Michael Jones, Alison<br />

McIvor, Patrick Norris and Michelle<br />

Purkiss – who volunteer their time and<br />

always do such great work. Let’s keep<br />

connecting!<br />

4<br />

<strong>Reach</strong><br />

<strong>Out</strong><br />

OCTOBER <strong>2019</strong> ISSUE 110

TSA News<br />

Six Months In<br />

Jackie Gambrell, General Manager<br />

My first six months as TSA’s new General Manager have<br />

been very rewarding and wonderfully diverse. I’d like to<br />

thank everyone for the very warm welcome they’ve given me.<br />

It’s been a busy time with visits to Sydney Children’s Hospital,<br />

speaking at Baker McKenzie on Global Awareness Day, a trip to<br />

an international conference and forming connections with other<br />

rare disease, patient and genetics associations.<br />

The undoubted highlights though were attending Lizzie’s<br />

Lunch and meeting so many of you, our wonderful community,<br />

and spending time with attendees at our TSC Connect event in<br />

Brisbane. I’m really looking forward to running and attending<br />

more events like these. I hope to see many of you at Sydney’s<br />

Comedy for a Cure on Saturday 26 <strong>October</strong>.<br />

Six months in, I find myself starting to ask lots of questions,<br />

such as:<br />

• What other information and support does our community<br />

need and want?<br />

• How do we ensure everyone in Australia living with TSC<br />

knows about us and has access to our information and<br />

support?<br />

• Can we promote the benefits of the TSC clinic approach with<br />

the hope of establishing one in every state and territory?<br />

• How can we ensure the best possible network of health<br />

professionals with TSC expertise throughout Australia?<br />

• What can we do to support health professionals here<br />

and internationally investigate and research the full potential<br />

of mTOR inhibitors and other treatments that might lead to a<br />

cure for TSC?<br />

One thing’s for sure. TSA and I need your help. TSA exists for<br />

you and we need to know what you think and want. This is why<br />

we are asking you to complete our <strong>2019</strong> survey. We will of course<br />

share the outcomes of the survey with you. Together, I’m confident<br />

we can both ask and answer the big questions. Please complete the<br />

survey today! Thank you for your help.<br />

Help Us to Help You<br />

TSA is launching an online survey to find out more about you, our<br />

TSC community. Your feedback will help us focus our efforts and<br />

further improve our services, communications and fundraising.<br />

Your responses will be kept private and confidential, as already happens with all the personal<br />

information you share with TSA. The survey is available at: https://www.tsa.org.au/survey<br />

What are we asking you and why?<br />

One of our goals for 2020 is to expand our TSC Health Professionals Network. So, in this year’s<br />

survey we ask you to tell us about your GP and your health professional team.<br />

We also want your views and input on current and future services – newsletters, online forums,<br />

events, education resources and the TSA website – to find out how well we are connecting you to<br />

the support and information you need.<br />

Please Help Us to Help You. Go online and complete the TSA survey today.<br />

www.tsa.org.au/survey<br />


TSA News<br />

Connecting Through<br />

Technology<br />

TSA’s new nurse service<br />

Everyone at TSA is excited to welcome our new nurse, Kim Kerin-Ayres. The addition of a<br />

qualified nurse to our team is a significant one. TSA’s new nurse service is a free, confidential<br />

information and support service to support you with information, links to practical support<br />

and to help you live well with TSC. Kim is committed to helping the TSC community and will<br />

work hard to find answers to your many and varied questions. She will be working closely with<br />

and supported by members of our TSC health professionals network around the country and<br />

our regional volunteers who know what it is like to live with TSC.<br />

Kim can help you with any questions and/or concerns you may have about TSC, including:<br />

• emotional support if you or someone you care about has TSC<br />

• questions you may have about TSC, including about tests and medical procedures<br />

• pathways for navigating the health system<br />

• how to find other organisations and resources that can help you in your life with TSC.<br />

Kim will also be able to help adults with TSC develop a personal care plan based on the TSC<br />

surveillance guidelines.<br />

Kim is available by appointment on Wednesdays and Fridays each week. You can book an<br />

appointment by emailing nurse@tsa.org.au<br />

TSA is grateful to the Centre for Community-Driven Research (CCDR) for making it possible<br />

for us to have our very own nurse. Kim has been appointed as part of the Patient Pathways Pilot<br />

Program developed by CCDR. The aim of the pilot project is to increase the capacity of patient<br />

organisations, like TSA, to support patients to navigate the health system and access all that is<br />

available to them, including clinical trials.<br />

Patient Pathways is being funded by the Australian Department of Health.<br />

Do you know and<br />

implement the TSC clinical guidelines?<br />

Check them out online at:<br />

https://tsa.org.au/information/guidelines-tsc/<br />

Have you recently completed a<br />

TAND assessment with your clinician?<br />

Find the checklist online at:<br />

https://tsa.org.au/wp-content/uploads/2015/02/TAND_checklist-2014.pdf<br />

To book an<br />

appointment with<br />

Kim email<br />

nurse@tsa.org.au<br />

6<br />

<strong>Reach</strong><br />

<strong>Out</strong><br />

OCTOBER <strong>2019</strong> ISSUE 110

TSA News<br />

Welcome Kim<br />

We are delighted<br />

to welcome Kim<br />

Kerin-Ayres who is TSA’s<br />

new part-time nurse.<br />

Kim is a Clinical<br />

Nurse Consultant and<br />

has worked in a variety of<br />

roles within the healthcare<br />

system for 30 years. Her<br />

work experience includes both<br />

health settings and not-for-profit<br />

environments. Kim has unique<br />

experience working with a telephonebased<br />

helpline where she was<br />

responsible for responding<br />

to inquiries from patients,<br />

health professionals and the<br />

general public for clinical and<br />

supportive care information.<br />

According to Kim, one of<br />

the advantages of telehealth is<br />

its accessibility to everyone. “It<br />

doesn’t matter where you live, or how<br />

far you are from a major city or hospital.<br />

Telehealth means anyone who has a phone connection can get<br />

help and support.”<br />

As Kim says: “Health systems are complex and people<br />

experience evolving informational and supportive care needs<br />

along the way.”<br />

For Kim, a critical aspect of her role is ‘sign-posting’ and<br />

directing people to the resources and support they need, whilst<br />

empowering them to take an active role in managing their<br />

complex condition. “I have broad experience of supporting people<br />

and managing the impact and implications a condition has for<br />

individuals as well as family and friends. I also have extensive<br />

experience developing educational resources for health professionals<br />

and developing and delivering workshops and conferences.”<br />

Kim, a mother of two boys, is currently spending time with<br />

other TSC-related health professionals, such as the team at<br />

Sydney Children’s Hospital and Epilepsy Action Australia and is<br />

grateful for their time and support. She has also connected with<br />

the nurse network at TS Alliance in the US so that TSA can learn<br />

from their experiences.<br />

“I’m really excited to be working with the TSC community and<br />

look forward to speaking with many of you in the coming months.”<br />

<strong>Reach</strong> out to Kim if you have a question or concern. You can<br />

book an appointment by emailing nurse@tsa.org.au<br />

It doesn’t matter where you live, or how far you are<br />

from a major city or hospital. Telehealth means anyone who<br />

has a phone connection can get help and support.<br />


TSA News<br />

TSC Connect,<br />

Brisbane<br />

First Connect Event for Adults<br />

TSA held its first TSC Connect event for adults in<br />

Brisbane on 25 May this year. The purpose was to<br />

connect adults living with TSC, provide them with<br />

up-to-date health information and give them an<br />

opportunity to share their experiences.<br />

The day kicked off with two excellent presentations.<br />

Firstly, the group discussed kidney health with Nikky Isbel,<br />

Consultant Nephrologist at Princess Alexandra Hospital and<br />

Associate Professor Medicine at The University of Queensland.<br />

Nikky answered every question posed to her and one participant<br />

was fortunate to connect with their new specialist!<br />

Megan Higgins, Clinical Geneticist with Genetic Health<br />

Queensland, then talked about the genetic issues associated with<br />

TSC and the genetic testing options available.<br />

Nikky Isbel<br />

their experiences of living with TSC or supporting someone with<br />

TSC. Participants shared diagnosis stories, symptoms, experiences<br />

of the health system and the benefit of having a GP who takes<br />

a holistic view and considers what might or might not be TSCrelated.<br />

The groups found many similarities in their stories.<br />

Everyone agreed that it was good to get together as a group of<br />

Participants<br />

shared diagnosis<br />

stories, symptoms,<br />

experiences of the<br />

health system and the<br />

benefit of having a GP<br />

who takes a holistic<br />

view...!<br />

Discussion group<br />

All participants agreed that these sessions were very<br />

worthwhile and had improved their understanding of TSC.<br />

We thank Nikki and Megan for making their expertise<br />

available to us and giving up their valuable weekend time.<br />

We are fortunate indeed to have such<br />

health professionals working<br />

with our community.<br />

In the afternoon<br />

smaller groups shared<br />

Even<br />

though I am<br />

in my forties,<br />

I’d never met<br />

anyone with TSC before.!<br />

Gwen<br />

adults living with TSC and some strong, and hopefully lasting,<br />

connections were made.<br />

Participants also suggested the need for more information on<br />

managing an emergency away from home, managing the mental<br />

health impacts of TSC, and negotiating the NDIS. Participants<br />

said they would love TSA to run more of these<br />

TSC Connect events on a regular basis across Australia.<br />

The day concluded with a guided mindfulness session and<br />

a slow and mindful walk around the beautiful courtyard at the<br />

Translational Research Institute where the event was held.<br />

It was a perfect end to a positive and productive day.<br />

TSA would like to acknowledge the support of the Department of<br />

Social Services in providing financial assistance to help participants<br />

to attend this event.<br />

8 <strong>Reach</strong><br />

OCTOBER <strong>2019</strong> ISSUE 110<br />


TSA News<br />

The Value of Connections<br />

Penny McKee, NSW<br />

Penny McKee from regional NSW was one of the participants<br />

at the Brisbane Connect event for adults living with TSC.<br />

In this Q&A, Penny explains why she attended and her experience<br />

of the weekend.<br />

The value of attending was to<br />

‘connect’ in its truest sense -<br />

connect with others and connect<br />

with the latest information - and<br />

hear TSC stories…These connections<br />

are vital for people living with rare<br />

and progressive conditions.<br />

What made you sign up for the event?<br />

Signing up to attend the TSC Connect Weekend in Brisbane was a no<br />

brainer. Having attended the Melbourne TSC Family Day two years ago,<br />

the value of attending was to ‘connect’ in its truest sense - connect with<br />

others and connect with the latest information - and hear TSC stories.<br />

It costs a lot to travel from regional NSW to Brisbane for a weekend<br />

away. The assistance offered to me by TSA, through the NDCI grant<br />

funding, removed this financial barrier.<br />

And lastly, it was time to find out more about TSC. TSC issues have<br />

always been lurking but the leading role for the last ten years has been<br />

played by lymphangioleimyomatosis (LAM) which is a lung condition<br />

associated with TSC. Recent recurring migraines and genetic issues of<br />

the past had resurfaced, and it was time to find out more.<br />

Did the event meet your expectations?<br />

Yes. The information was relevant and real. It was presented like a<br />

seminar which meant there was plenty of time for questions and<br />

answers.<br />

What did you learn?<br />

I learnt about genetic testing which is territory my family and I will<br />

be exploring with our two children. They are symptom free of TSC so<br />

far and have not yet been tested. However, if they do have TSC, they<br />

could develop LAM later in life and I’m keen to ensure they have early<br />

medical surveillance for this.<br />

Did the event help you connect with others living with<br />

TSC?<br />

Most definitely! This weekend was about adults living with TSC and,<br />

among others, I met another TSC lady who had just been diagnosed<br />

with LAM. These connections are vital for people living with rare and<br />

progressive conditions.<br />

Thank you TSA. I was most grateful to be able to attend the TSC<br />

Connect weekend.<br />

Connect with others on our closed Facebook group<br />

TSA has a closed group on Facebook which is only open to those affected by TSC.<br />

It is a wonderful forum for sharing your experiences of living with TSC and finding out about<br />

other people’s experiences. It’s a place where you can ask questions or just read about the<br />

experiences of others. It’s a great source of knowledge.<br />

Recent discussions have included:<br />

• How to get travel insurance<br />

• Side effects of treatments<br />

• National disability insurance<br />

scheme<br />

• Triggers for seizures<br />

• Lymphangioleimyomatosis (a lung<br />

condition associated with TSC)<br />

• How to explain TSC to children.<br />

If you’d like to join, please go to Facebook and search for the group: “Discussions of Tuberous Sclerosis in Australia and New Zealand”.<br />


TSA News<br />

Our Financial<br />

Results<br />

Patrick Norris, TSA Treasurer and grandfather of Liam<br />

Patrick Norris<br />

In response to feedback from our members about good<br />

environmental practice, we are no longer automatically<br />

sending all our members a paper copy of TSA’s Annual<br />

Report. We wish, however, to make sure that everything we<br />

do is still transparent and that we are accountable to you, our<br />

community. We are therefore including our headline financials<br />

for the 2018/<strong>2019</strong> Financial Year in this issue of <strong>Reach</strong> <strong>Out</strong>. If<br />

you would like to see the full Annual Report, it is available<br />

online at www.tsa.org.au/annual-reports/ or, if you would<br />

like to receive a paper copy, simply send an email request to<br />

info@tsa.org.au<br />

This has been a year of change for TSA with the departure<br />

of our inaugural General Manager. To facilitate a smooth<br />

handover, this change in management entailed investment in a<br />

period of transition for the team and so we finished the year<br />

with a small deficit of $12,159.<br />

It has also been a year where our growth strategy and our<br />

deliberate decision to invest in fundraising and development<br />

activities has reaped rewards and we saw a significant uplift in<br />

income. We have also moved from an organisation that was<br />

predominately volunteer run to now boasting a team of three<br />

dedicated, part-time paid employees, including, thanks to grant<br />

funding, our new nurse. We have had a dramatic increase in<br />

securing grant monies. Because these grants are typically tied to<br />

specific expenditure, we do not recognise these funds as income<br />

until expended.<br />

Our bookkeeping partners, Refuge Accounting, continue to<br />

ensure that we are compliant in payroll, superannuation and GST.<br />

We use the Xero cloud-based accounting package which provides<br />

secure multi-user access for employees, bookkeepers, committee<br />

members and auditors. All invoices, receipts and documentation<br />

are stored inside Xero, facilitating transparency and auditability.<br />

We also use the CommBiz business banking platform which<br />

requires double authorisation for all payments. Any two of the<br />

President, the Secretary and myself are permitted to authorise.<br />

Our investment policy remains conservative. We invest solely<br />

in term deposits currently across Macquarie Bank and Bank of<br />

Queensland. The maturity dates of our deposits are staggered<br />

through the year so that we always have funds coming available to<br />

aid cashflow. At all times, we aim to keep enough cash available to<br />

meet payroll requirements for the next three months.<br />

The accounts for 2018/19 were audited by Mark Mortimer<br />

(Registered Auditor No. 1942) of Bondy Mortimer & Co. A copy of<br />

his report is available at https://tsa.org.au/about-us/annual-reports/<br />

Building upon our strong<br />

foundations will help us<br />

ensure we will be around<br />

for the long-term ... so every<br />

family and person living with<br />

this disease can benefit from<br />

the expert help and advice<br />

TSA provides.<br />

The accounts of TSA align to the National Standard<br />

Chart of Accounts published by the Australian Charities and<br />

Not-for-profits Commission.<br />

As a grandfather of a young boy with TSC, I want to see this<br />

organisation succeed and be sustainable for the future so every<br />

family and person living with this disease can benefit from the<br />

expert help and advice TSA provides. Building upon our strong<br />

foundations will help us ensure we will be around for the longterm.<br />

TSA is committed to continue to work with the TSC<br />

community to secure the funding we need to achieve our goals and<br />

a sustainable future.<br />

Our work with pharmaceutical companies<br />

TSA has previously collaborated with Novartis and other<br />

pharmaceutical companies in a number of ways. This<br />

year we did not receive any project funding or support<br />

from the medicines industry. Our policy on working<br />

with pharmaceutical companies, which is available on our<br />

website (www.tsa.org.au), describes how we maintain our<br />

independence and integrity.<br />

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TSA News<br />

Financial Statements<br />

Balance Sheet as at 30 June <strong>2019</strong><br />

ASSETS 30 June <strong>2019</strong> 30 June 2018<br />

Bank<br />

General Cheque Account $88,728.34 $32,849.72<br />

PayPal $2,768.68 $0.00<br />

Savings Accounts $30,820.45 $10,117.88<br />

Term Deposits $188,359.02 $203,207.42<br />

Total Bank $310,676.49 $246,175.02<br />

Current Assets<br />

Accounts Receivables $317.50 $0.00<br />

Sundry Debtors $2,029.35 $2,916.01<br />

Total Current Assets $2,346.85 $2,916.01<br />

Total Assets $313,023.34 $249,091.03<br />


Current Liabilities<br />

Accrued Expenses $8,000.00 $0.00<br />

GST $210.64 -$769.71<br />

PAYG Withholding Payable $1,648.00 $2,037.00<br />

Provision for Annual Leave $6,619.67 $6,511.82<br />

Provision for Long Service Leave $3,617.07 $0.00<br />

Salary Sacrifice Payable $0.00 $0.09<br />

Superannuation Payable $3,130.53 $2,367.04<br />

Suspense $0.00 -$350.00<br />

Trade Creditors $0.00 $56.27<br />

Unexpended Grants $64,049.47 $0.00<br />

Unpaid Expense Claims $693.93 $2,016.37<br />

Total Current Liabilities $87,960.31 $11,868.88<br />

Total Liabilities $87,960.31 $11,868.88<br />

Net Assets $225,063.03 $237,222.15<br />

EQUITY<br />

Current Year Earnings -$12,159.12 -$55,653.92<br />

Retained Surplus $237,222.15 $292,876.07<br />

Total Equity $225,063.03 $237,222.15<br />


TSA News<br />

Financial Statements<br />

Income and Expenditure: Year Ended 30 June <strong>2019</strong><br />

30 June <strong>2019</strong> 30 June 2018<br />

INCOME<br />

Donations Received $114,012.83 $64,397.35<br />

Grants Received $21,501.47 $13,785.24<br />

Event Income $35,114.70 $24,060.00<br />

Membership Contributions and Fees $12,272.75 $11,911.12<br />

Other Income $4,967.51 $5,283.39<br />

Sales of Goods $3,403.53 $3,760.01<br />

Total Trading Income $191,272.79 $123,197.11<br />

Gross Profit $191,272.79 $123,197.11<br />


Accounting and Bank Fees $7,806.89 $8,245.32<br />

Advertising and Promotion $213.47 $97.27<br />

Consultancy Fees $2,100.00 $8,200.00<br />

Educational Event Expenses $5,208.80 $4,669.13<br />

Foreign Currency Gains and Losses $0.00 $325.62<br />

Fundraising and Event Expenses $16,143.76 $15,163.20<br />

Information Technology Expenses $8,352.70 $9,970.71<br />

Insurance Expense $2,839.19 $1,864.08<br />

Postage, Freight and Courier $3,197.25 $2,636.78<br />

Printing & Stationery $2,784.60 $5,932.75<br />

Publications and Information Resources $13,920.45 $3,883.57<br />

Research Grants Awarded $0.00 $2,495.45<br />

Salaries and Wages $125,240.33 $101,914.08<br />

Sundry Expenses $1,611.89 $2,997.36<br />

Telephone, Fax and Internet $1,029.87 $1,734.00<br />

Training & Development (Staff) $681.55 $314.81<br />

Travel & Accommodation $12,301.16 $8,406.90<br />

Total Operating Expenses $203,431.91 $178,851.03<br />

Deficit/Surplus -$12,159.12 -$55,653.92<br />

If you would like to<br />

see TSA’s Annual Report<br />

it is available<br />

online at www.tsa.org.au/<br />

annual-reports or, if you<br />

would like to receive a<br />

paper copy, simply send an<br />

email request to<br />

info@tsa.org.au<br />

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TSA News<br />

The Impact of Your Support This Year<br />

94<br />

TSC families helped through<br />

our TSC Information Service<br />

32,618<br />

People visited our website<br />

for information about TSC<br />

67<br />

TSC Information pages<br />

viewed each day<br />

1<br />

New TSC medicine<br />

included on the PBS<br />

520<br />

Members supported through our<br />

online discussion group<br />

25<br />

Families took part in a research project sharing<br />

their new diagnosis experience<br />

1,384<br />

Comments posted in<br />

our online discussion<br />

group<br />

65<br />

Australian TSC families<br />

have received their<br />

free children’s book about TSC<br />

15<br />

Adults participated<br />

in TSC Connect<br />

84<br />

Families attended TAND education events<br />

across the country<br />

1<br />

Elizabeth Pinkerton Memorial<br />

2<br />

Award presented<br />

Issues of <strong>Reach</strong><br />

<strong>Out</strong> published<br />


Events<br />

Communities Connecting<br />

for TSC Global<br />

Awareness Day <strong>2019</strong><br />

Celebrations<br />

On 15 May, Global Awareness Day inspired our TSC community<br />

to raise awareness and over $12,000 for people living with TSC.<br />

There were celebrations all around the country to mark this<br />

special day for our rare disease.<br />

Thank you for encouraging your communities to come<br />

together in support of your loved ones who live with TSC. There<br />

were pyjama days in Tasmania, morning teas in Victoria, dinners<br />

in Perth, online Facebook campaigns as well as many people<br />

taking selfies wearing their wave tattoos. What a wonderful<br />

achievement!<br />

Rob, Mimi and Roxie<br />

Blackmans Bay<br />

School PJ Day<br />

In celebration of Roxie<br />

Rob and Mimi’s daughter Roxie has TSC. For Global Awareness<br />

Day, Rob purchased some #Tatts4TSC tattoos via our website<br />

and posted a photo of his family wearing their wave tattoos on<br />

Facebook. By adding a donate button to their post, and sharing a<br />

little bit about their TSC journey, they inspired just over $4,000 in<br />

donations in support of our work.<br />

Heroes4Caleb in the Radio Hobart studio<br />

#Heroes4Caleb<br />

Caleb from Tasmania lives with TSC. His<br />

big sister Jemima decided to inspire her<br />

school, Blackmans Bay Primary School,<br />

to hold a pyjama day for TSC Global<br />

Awareness Day. They collected a gold<br />

coin from each student who wore their<br />

pyjamas to school. In return, students<br />

received a wave tattoo. They raised over<br />

$400.<br />

The ABC local radio station heard<br />

about Jemima’s plans and invited the<br />

whole family into the studio for an<br />

interview to help raise awareness for TSC<br />

and promote Jemima’s terrific efforts.<br />

You can listen to the interview on TSA’s<br />

YouTube channel.<br />

Caleb’s grandma Ros also got<br />

involved. She held a morning tea with 30 of her friends from the<br />

Davenport Uniting Church Fellowship Group and raised $550.<br />

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Events<br />

Rachel’s birthday<br />

Rachel from NSW’s Riverina region was celebrating her birthday<br />

around 15 May. Because her daughter lives with TSC, Rachel<br />

decided to combine her birthday with some fundraising for TSA.<br />

Rachel raised $800 and her birthday was all the more colourful<br />

with everyone wearing their temporary tattoos.<br />

Baker McKenzie<br />

Our new partner, Baker McKenzie, invited us into their firm for a<br />

morning tea to launch our partnership and celebrate TSC Global<br />

Awareness Day. The Baker McKenzie team presented us with a<br />

cheque for $1,600 and raised another $127 on the day. What a<br />

fantastic connection!<br />

Gayle and the<br />

Lions Club of<br />

Nyah<br />

Gayle’s family has been dealing<br />

Gayle’s wave cake<br />

with the challenges of TSC for a<br />

long time, as her adult daughter<br />

Amy lives with TSC. Gayle contacted her local Lions Club of Nyah in<br />

Victoria. By sharing a little about their life with TSC, Gayle secured a<br />

$1,500 donation.<br />

But Gayle didn’t stop there. She also held a morning tea with<br />

friends and with the nurses at her work. To top it off she baked a<br />

special wave cake to share the message that living with TSC is like<br />

riding waves. There are highs and lows and unpredictable tides that<br />

threaten to tow you under. Even though we often can’t control the<br />

TSC waves, we can learn to surf.<br />

At Baker McKenzie’s on TSC Global Awareness Day<br />

Sydney Children’s Hospital, Randwick<br />

The TSA team kicked off its TSC Global Awareness Day events at<br />

the TSC Clinic at Sydney Children’s Hospital in Randwick, NSW.<br />

We had a great time meeting the families who were there and<br />

sharing our #Tatts4TSC with all the children, families and doctors.<br />

In celebration of Sophie<br />

Gayle and friends<br />

A family in the Tasmanian suburb of Trevallyn got involved in<br />

TSC Global Awareness Day. Georgie held a morning tea at work to<br />

raise awareness of her eldest daughter Sophie who lives with TSC.<br />

CBA Commodities Team<br />

Todd, who works in institutional banking at CBA, was introduced<br />

to TSA through The Growth Project, which brings together charity<br />

and business leaders. Todd was paired with Clare Stuart, who was<br />

then General Manager of TSA. Todd inspired his work team to<br />

donate. They raised over $1,300.<br />

Galada Kindy<br />

Tracey organised an awareness morning tea at Galada Kindy in<br />

Epping in Victoria. She baked lots of goodies and shared them with<br />

her early childhood educator colleagues.<br />

Thank you also to everyone who purchased<br />

tattoos and wore them on 15 May. We sold<br />

140 which helped us raise over $400.<br />

Thank you to everyone who made this year’s<br />

Global Awareness Day such a huge success.<br />


Events<br />

Connecting with Other<br />

Organisations<br />

As a small not-for-profit organisation, the team at TSA knows<br />

how important it is to collaborate and connect with other<br />

rare disease and patient organisations. This ensures we make the<br />

best use of resources, stay aware of things happening in, and to,<br />

the sector, and join forces to advocate on particular issues.<br />

TSA does this on both an international and a local level.<br />

We have particularly strong ties with Tuberous Sclerosis<br />

Complex New Zealand, our sister patient organisation across<br />

the Tasman.<br />

TSA is fortunate to be included in several forums where<br />

members freely and gladly share their expertise and knowledge.<br />

In this issue of <strong>Reach</strong> <strong>Out</strong> we give you a glimpse of a couple<br />

of the events that helped us connect with other like-minded<br />

organisations.<br />

TSA connected with 100 other local charities<br />

In May this year, Clare Stuart and Jackie Gambrell (the former<br />

and current TSA General Managers respectively), attended the<br />

inaugural Australian Patient Organisation Network Conference<br />

(APON) in Sydney. Over 100 charities participated in this<br />

event. This is a starting point in bringing patient organisations<br />

together and developing networks. The idea is that a cohesive<br />

and collaborative non-profit sector can be leveraged to<br />

address common goals. Participating organisations, including<br />

TSA, identified the following challenges in supporting their<br />

communities:<br />

• Creating sustainable organisations<br />

• Equity of access for all<br />

• Health literacy<br />

• Health system navigation<br />

• Stigma and visibility.<br />

APON charities agreed to work together to come up with<br />

potential solutions to these challenges and to advocate for<br />

change. We’ll keep you posted on our progress.<br />

TSA connected with international TSC patient<br />

associations<br />

In June this year, Jackie Gambrell, TSA’s General Manager, and<br />

Dr David Mowat, one of TSA’s Medial Advisors, made their<br />

way to Toronto for the TSC International (TSCi) Research<br />

Conference. 250 people from 28 countries attended. It was<br />

fantastic to see the depth and breadth of research being<br />

conducted across the globe by many brilliant minds. It shows<br />

just how much research into TSC is taking place!<br />

At a workshop representing 25 patient organisations from<br />

around the world, we shared ideas about some of the challenges we<br />

each face, including:<br />

• finding and connecting with all those who have TSC<br />

• engaging with clinicians and researchers and raising their<br />

interest in TSC<br />

• getting the clinical guidelines known and implemented<br />

• working towards early diagnosis and treatment<br />

• achieving optimal assessment of TAND (TSC-associated<br />

neuropsychiatric disorders).<br />

For more details on the research conference visit: http://online.<br />

fliphtml5.com/tosk/ghir/ or listen to the podcast at: https://tscnow.blubrry.net/<strong>2019</strong>/07/16/episode-3-the-<strong>2019</strong>-international-tscresearch-conference/#more-39<br />

TSA extends a sincere thanks to TSC International for providing<br />

funding so TSA could attend this important TSC event.<br />

Many advances have been made in tuberous sclerosis complex (TSC) in<br />

the last thirty years. In addition to identifying the molecular basis for TSC, it<br />

has become clear that affected individuals benefit greatly from early diagnosis,<br />

understanding of the true nature of the disorder, and thoughtful, progressive<br />

medical, surgical and psycho-social management. There is understandable<br />

excitement about increased understanding of the causes of TSC, as well as the<br />

new and targeted treatments available for it.<br />

David Neal Franz, Keynote Speaker at the TSCi Research Conference <strong>2019</strong><br />

Founding Director, TS Clinic, Children’s Hospital Medical Centre, Cincinnati<br />

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Research<br />

EPISTOP:<br />

International<br />

Research Results on<br />

Epilepsy<br />

Dr Kate Riney<br />

One of the most exciting presentations at this year’s TSC<br />

International Research Conference was delivered by<br />

Professor Sergiusz Jozwiak, Paediatric Neurologist and Head of<br />

Department of Neurology at the Children’s Memorial Health<br />

Institute in Warsaw, Poland.<br />

Professor Jozwiak is Project Coordinator of the EPISTOP<br />

Project, one of the largest international scientific research<br />

programs on epilepsy. He delivered a session called, “Lessons<br />

learnt from the EPISTOP study.”<br />

EPISTOP was a multi-centre project aimed at improving<br />

epilepsy management in individuals with TSC. It involved 101<br />

infants under the age of four months diagnosed with TSC. The<br />

study had two goals:<br />

• to compare the results of standard and preventative<br />

treatment of epilepsy in infants with TSC<br />

• to identify biomarkers that can predict the development of<br />

epilepsy in a child with TSC.<br />

In the randomised trial, standard treatment with vigabatrin<br />

started after the onset of clinical or sub-clinical seizures, was<br />

compared to preventive treatment started because of epileptiform<br />

abnormalities on EEGs but before the onset of seizures.<br />

According to Professor Jozwiak, the EPISTOP project proved<br />

that preventive treatment decreased the risk and severity of<br />

epilepsy. The study showed that preventive vigabatrin treatment<br />

delayed the onset of seizures, reduced risk of drug-resistant<br />

epilepsy, reduced the number of antiepileptic drugs required and<br />

reduced the number of days with seizures.<br />

Professor Jozwiak said the study also showed that a first<br />

abnormal EEG or seizure onset at younger age is associated<br />

with higher prevalence of developmental delay or autism and<br />

that the prevalence of these was higher in patients with drugresistant<br />

epilepsy.<br />

Professor Jozwiak noted that no patients in EPISTOP<br />

presented severe neuropsychological deficits at two years of age,<br />

probably due to the close monitoring.<br />

The EPISTOP results offer new insights into epilepsy<br />

management. Whilst there is still more work to do, the results<br />

have the potential to be used to develop recommendations for the<br />

detection and treatment of epilepsy around the world, including<br />

early interventions to improve outcomes.<br />

The project also identified potential biomarkers for epilepsy<br />

development.<br />

EPISTOP results have the<br />

potential to be used to develop<br />

recommendations for the detection<br />

and treatment of epilepsy in people<br />

with TSC around the world, including<br />

early interventions to improve<br />

outcomes.<br />

Professor Sergiusz Jozwiak<br />

Based on the study results EPISTOP has formulated the<br />

following clinical recommendations:<br />

• Early diagnosis is a must. It enables close monitoring and<br />

early intervention for epilepsy, developmental delay and<br />

autism.<br />

• Serial video EEGs should be carried out every 4-8 weeks<br />

in the first two years of life and neurodevelopmental<br />

evaluations should be carried out every six months.<br />

TSA would like to acknowledge Professor Jozwiak and his fellow<br />

collaborators, including Australian TSC clinical researcher Dr Kate<br />

Riney and her colleagues at Children’s Health Queensland, for their<br />

participation in EPISTOP. And, of course, we extend a huge thank<br />

you to all of the children and families who took part in this study.<br />

To find out more, please see https://tsa.org.au/epistop-researchprogram-results/<br />

or visit www.epitstop.eu<br />


Research<br />

Research<br />

News<br />

Clinical characteristics of SEGAs in TSC<br />

This study, conducted at 170 sites across 31 countries, looked at the<br />

clinical characteristics of subependymal giant cell astrocytoma<br />

(SEGAs) in children and adults with TSC. The data comes from<br />

the TOSCA registry (TuberOus SClerosis registry to increase<br />

disease Awareness), which was designed to provide deeper insights<br />

into the manifestations of TSC and its management. Data from<br />

patients of any age with a documented clinical visit for TSC in the<br />

12 months preceding enrolment or those newly diagnosed with<br />

TSC was included.<br />

SEGA were reported in 25% of the 2,216 patients on the registry,<br />

with the median age of diagnosis of SEGA being 8 years. SEGA were<br />

more often associated with TSC2 mutations compared to those with<br />

a TSC1 mutation. The study highlights that the rates of SEGA in<br />

patients with TSC may be higher than previously reported.<br />

SEGA caused symptoms in 42% of patients. The most common<br />

symptoms among patients were increased frequency in seizures<br />

(16%) and behavioural disturbance (12%). The main treatments<br />

patients received were surgery and mTOR inhibitors.<br />

Of interest, prior reports of SEGA growth after the age of 25 years<br />

have been rare but, in this study, growing SEGA were reported in 19<br />

patients who were over the age of 18. This confirms that, although<br />

SEGA diagnosis and growth typically occurs during childhood, SEGA<br />

can occur and grow in both infants and adults.<br />

This study once more highlights the need<br />

for all those with TSC to follow the<br />

international recommendations for<br />

The [study] confirms that<br />

although SEGA diagnosis<br />

and growth typically occurs<br />

during childhood, SEGA can<br />

occur and grow in both infants<br />

and adults.<br />

the surveillance and management<br />

of TSC which recommends brain<br />

imaging until the age of 25 years.<br />

Jansen et al, Clinical<br />

Characteristics of Subependymal<br />

Giant Cell Astrocytoma in<br />

Tuberous Sclerosis Complex,<br />

Frontiers in Neurology, <strong>2019</strong> Jul<br />

3;10:705. doi: 10.3389/fneur.<strong>2019</strong>.00705.<br />

eCollection <strong>2019</strong>.<br />

Sirolimus therapy for cardiac rhabdomyoma in pregnancy<br />

This is a case report of a pregnant 32 year old woman who had been<br />

diagnosed with TSC when she was aged 24 and was being treated<br />

with oral sirolimus to manage her lymphangioleimyomatosis (LAM,<br />

a lung condition associated with TSC).<br />

She stopped treatment when she became pregnant. At 21 weeks<br />

into her pregnancy, cardiac echo found a cardiac rhabdomyoma<br />

in her baby. Rhabdomyoma is the most common foetal cardiac<br />

tumour, and its development is related to tuberous sclerosis. The<br />

woman’s medical team recommenced sirolimus and continued to<br />

monitor the pregnancy. A repeat cardiac echo at 29 weeks found no<br />

visible cardiac rhabdomyoma. The woman continued on sirolimus<br />

until delivery of her baby at 39 weeks. Her baby was born with<br />

no cardiac rhabdomyomas, but was found to have subependymal<br />

nodules and possible kidney lesions.<br />

This is the first report of complete resolution of cardiac<br />

rhabdomyomas in a pregnant woman with TSC treated with<br />

sirolimus. But, the authors caution that further studies are needed<br />

to determine the safety of the drug in pregnant women. This case<br />

highlights the need for targeted imaging of pregnant woman with<br />

TSC and the potential for early intervention.<br />

Park et al, Sirolimus therapy for fetal cardiac rhabdomyoma in a<br />

pregnant woman with tuberous sclerosis, Obstetrics & Gynaecology<br />

Science, <strong>2019</strong> Jul;62(4):280-284. doi: 10.5468/ogs.<strong>2019</strong>.62.4.280. Epub<br />

<strong>2019</strong> Jun 21.<br />

This is the first report of complete<br />

resolution of cardiac rhabdomyomas<br />

in a pregnant woman with TSC treated<br />

with sirolimus…but…further studies<br />

are needed to determine the safety of<br />

the drug in pregnant women.<br />

18 <strong>Reach</strong><br />

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Research<br />

Gaps in surveillance<br />

In 2016 the Comprehensive TSC Clinic was established at The Hospital<br />

for Sick Children in Toronto, Canada. This new clinic wanted to<br />

understand the gaps in service that those being referred to it may<br />

have experienced. The clinic conducted a retrospective review of the<br />

medical records of all its patients with TSC seen between January 2016<br />

and December 2017. The aim was to see if appropriate surveillance,<br />

as advised by the 2012 Tuberous Sclerosis Complex Consensus<br />

Recommendations, was completed prior to these patients attending the<br />

clinic.<br />

The clinic saw 90 patients during this period who were aged less<br />

than 18 years. The review of these children’s medical records found that<br />

the majority had received the following TSC surveillance:<br />

• central nervous system surveillance (EEG<br />

and/or MRI)<br />

• renal and cardiac surveillance<br />

• genetic evaluation and counselling<br />

• dermatological (skin), dental<br />

and ophthalmologic (eyes)<br />

surveillance.<br />

However, the review<br />

found the one area that<br />

was poorly addressed was<br />

This review suggests that<br />

neuropsychiatric surveillance<br />

patients and health<br />

using the TAND checklist.<br />

professionals should put<br />

TAND stands for TSC<br />

more emphasis on assessing<br />

Associated Neuropsychiatric<br />

and treating TAND.<br />

Disorders and refers to the wide<br />

range of cognitive, behavioural<br />

and mental health challenges that<br />

people with TSC are at risk of.<br />

It is estimated that about 90% of<br />

individuals with TSC will experience some<br />

degree of TAND symptoms which may include features which may<br />

include depression, anxiety, autism spectrum disorder, sleep difficulties<br />

and cognitive difficulties. Yet, in this review of medical records, the<br />

TAND checklist was completed prior to attending the clinic in only four<br />

out of the 90 cases.<br />

Early recognition of TAND symptoms allows for early intervention,<br />

and treatments or programs that can help to meet the needs of<br />

children and adults with TSC and their families. This review suggests<br />

that patients and health professionals should put more emphasis on<br />

assessing and treating TAND.<br />

For more information on TAND and the TAND checklist visit<br />

https://tsa.org.au/information/tand/<br />

Surveillance and<br />

management guidelines for<br />

tuberous sclerosis<br />

Tuberous sclerosis complex (TSC) is a genetic disorder that may affect nearly every<br />

organ system. TSC affects people in many different ways and with differing degrees<br />

of severity. Signs and symptoms of TSC can also progress at different rates in different<br />

individuals. This diversity and variation make it challenging to determine what<br />

healthcare is needed achieve the best quality of life for a person with TSC.<br />

Healthcare professionals from around the world with expertise managing TSC have<br />

developed guidelines for the surveillance and management of TSC. These have been<br />

published in a series of peer-reviewed papers. This publication summarises these<br />

consensus guidelines to help people with TSC, their families and health professionals.<br />

WHAT IS TSC?<br />

Tuberous sclerosis complex (TSC) is a<br />

genetic disorder that affects many organs<br />

and causes non-malignant tumors in the<br />

skin, kidney, brain, heart, eyes, lungs, teeth<br />

or oral cavity, and other organs. Individuals<br />

with TSC may be initially diagnosed because<br />

of involvement in any or all of these organs,<br />

often depending on the age at which a<br />

person receives the diagnosis.<br />

Individuals of all ages may receive the<br />

diagnosis of TSC depending on the signs and<br />

symptoms they have. The diagnosis of TSC<br />

may occur after the development of facial<br />

angiofibromas in an adolescent, because<br />

of the presence of heart tumours (cardiac<br />

rhabdomyomas) in a newborn or the onset<br />

of kidney problems in an adult. However, in<br />

the majority of cases, the diagnosis of TSC<br />

comes after the start of seizures.<br />

The severity of TSC can range from mild to<br />

severe, even within the same family if more<br />

than one person has TSC. The diagnosis of<br />

TSC and further evaluation of people at risk<br />

for TSC involve careful examination of the<br />

skin, heart, eyes, brain, lungs and kidneys,<br />

as well as genetic testing. It is important to<br />

know the disorder’s signs and symptoms<br />

and to follow the recommendations for<br />

screening and evaluating TSC.<br />

It is estimated that TSC affects 1 in 6,000 live<br />

births. Nearly 1 million people worldwide are<br />

estimated to have TSC, with approximately<br />

2,000 in Australia. TSC shows no gender bias<br />

and occurs in all races and ethnic groups.<br />

You can read more about the signs and<br />

symptoms of TSC at<br />

www.tsa.org.au/information<br />

Alsowat et al, A Review of Investigations for Patient With Tuberous<br />

Sclerosis Complex Who Were Referred to the Tuberous Sclerosis Clinic<br />

at The Hospital for Sick Children: Identifying Gaps in Surveillance,<br />

Paediatric Neurology, <strong>2019</strong> Jul 4. pii: S0887-8994(19)30511-9. doi:<br />

10.1016/j.pediatrneurol.<strong>2019</strong>.06.018. [Epub ahead of print]<br />


Research<br />

Australian Families’<br />

Experience with a TSC<br />

Diagnosis<br />

One of the not-for-profit organisations TSA collaborates with<br />

is the Centre for Community-Driven Research (CCDR),<br />

a non-profit organisation bringing change to community<br />

engagement in health and research. Patient Experience,<br />

Expectations & Knowledge (PEEK) is a research program<br />

developed by CCDR. PEEK studies provide a clear picture and<br />

historical record of what it is like to be a patient at a given point<br />

in time. PEEK studies help inform how best to support patients<br />

with treatments, information and care.<br />

Earlier this year, in preparation for developing our new<br />

diagnosis resources, CCDR completed a mini-PEEK study<br />

investigating the experiences of 25 families from around<br />

Australia when their child was diagnosed with tuberous sclerosis<br />

complex (TSC).<br />

The study found that it was most often white spots on the skin,<br />

seizures and delayed development that provided the first clues that<br />

led to a diagnosis of TSC. The most common health professional<br />

to diagnose TSC was a neurologist or paediatrician, although GPs<br />

were also commonly involved in the diagnosis process.<br />

Half of the families in the study said that enough information<br />

was given at diagnosis, and half that not enough information<br />

was given, with one family saying they had no information at all.<br />

Parents of newly diagnosed children wanted to find out about<br />

disease management, treatment options, hereditary considerations<br />

and genetics, disease cause and allied health information.<br />

It was acknowledged that a TSC diagnosis is often a shock and<br />

about 20% of those interviewed said they needed to get through<br />

that shock before they were receptive to information.<br />

More than half of those interviewed (60%) reported they<br />

did not have adequate emotional support between testing and<br />

diagnosis, with 35% of parents reporting they had no emotional<br />

support at all.<br />

There was recognition from parents that more tailored<br />

information would be helpful at new diagnosis. There were<br />

comments such as: “When my child was first diagnosed there<br />

wasn’t really like a resource list for where to go, who to contact.<br />

You know, you can get help in this area or that area. That would be<br />

the biggest thing I think. If someone was recently diagnosed that’s<br />

what I think would be most helpful initially.”<br />

The study reports that most parents made treatment decisions<br />

in collaboration with their health professionals, highlighting<br />

the importance of that team in pursuing the right treatment<br />

options. The importance of TSC specialists was highlighted, with<br />

parents describing difficulties of having to educate their GPs,<br />

paediatricians and other non-TSC specialists.<br />

Half of those interviewed reported at least some difficulties<br />

paying for basic necessities such as housing, food and electricity<br />

as a result of TSC in their family. Many said that TSC had a large<br />

impact on their ability to<br />

work with half having<br />

More than half of those<br />

to reduce the number<br />

interviewed (60%) reported<br />

of hours they worked.<br />

they did not have adequate<br />

A quarter of these<br />

emotional support between testing<br />

families felt their<br />

and diagnosis, with 35% of parents<br />

reduced earning ability<br />

reporting they had no emotional<br />

had been an extremely<br />

support at all.<br />

significant burden of<br />

the disease. Parents were<br />

generally not informed of their<br />

financial entitlements.<br />

From the CCDR interviews, it was<br />

clear that parents of children with TSC are very knowledgeable<br />

about the condition and related symptoms and treatments. They<br />

take a very active role in managing TSC and there is a lot to learn<br />

to be able to do that job.<br />

Parents said they were most interested in learning about what<br />

causes TSC, how TSC is best managed and what the available<br />

treatment options are. Health professionals provide some<br />

information. Parents are also searching online for information to<br />

improve their knowledge. Those interviewed said they preferred<br />

to talk to someone and also go online for information, with most<br />

identifying the combination of these as important. Interviewees<br />

cited TSA as the most trusted information source, even more so<br />

that health professionals (although the sample may be biased<br />

because recruitment was done through TSA). Those interviewed<br />

stressed that information has to be current and described old<br />

information as not helpful and sometimes even harmful.<br />

Many of those interviewed said they had a fear of progression<br />

of TSC and concerns about their child reaching educational and/or<br />

personal goals because of the disease.<br />

There were many suggestions for advice to future TSC<br />

families, including:<br />

• allowing time to adjust<br />

• learning as much as possible about TSC and becoming an<br />

advocate<br />

• seeking a second opinion<br />

• connecting with support groups and seeking support<br />

from family and friends<br />

• sharing experiences<br />

• being open to changes to lifefocusing on the positive.<br />

TSA would like to thank all the families who participated in<br />

this research and thank CCDR for undertaking the study. This<br />

research is an important platform in the development of TSA’s New<br />

Diagnosis “Parachute” Pack which is due to be launched in late <strong>2019</strong>.<br />

TSA would also like to acknowledge our partner nib foundation for<br />

supporting this project.<br />

20 <strong>Reach</strong><br />

OCTOBER <strong>2019</strong> ISSUE 110<br />


TSA Research Awards<br />

Congratulations to<br />

Dr Fiona McKenzie<br />

Winner of the Elizabeth Pinkerton Memorial Award <strong>2019</strong><br />

Tuberous Sclerosis Australia (TSA) is delighted to announce<br />

that Dr Fiona McKenzie, Geneticist at the King Edward<br />

Memorial Hospital for Women in Subiaco, Western Australia, is<br />

the recipient of the <strong>2019</strong> Elizabeth Pinkerton Memorial Award.<br />

This award is given annually with TSA to a health professional<br />

in recognition of their efforts to improve the lives of people<br />

affected with tuberous sclerosis complex (TSC) in Australia and<br />

their families. Nominations for the award are open, via TSA’s<br />

website, from May to July each year.<br />

Members of the Australian TSC Community nominated<br />

Dr McKenzie for this year’s award. She was recognised in<br />

particular for her long-term perseverance in assisting one TSC<br />

adult to search for the cause of their mosaic TSC, and for her<br />

considered counselling to TSC families planning to conceive<br />

a child. As one family commented: “Dr McKenzie counselled<br />

us when we were planning to conceive and have our first child.<br />

We wouldn’t have had the confidence to go forward without her<br />

advice.”<br />

Dr McKenzie joins the illustrious ranks of past winners of this<br />

award which include Dr David Mowat, Dr John Lawson, Dr Kate<br />

Riney, Dr Sean Kennedy, Dr Anne Halbert, Dr Simon Harvey,<br />

Dr Helen Whitford and Dr Orli Wargon.<br />

Lizzie Pinkerton<br />

Elizabeth (Lizzie)<br />

Pinkerton (1984 –<br />

2010) had tuberous<br />

sclerosis complex and<br />

polycystic kidney disease.<br />

Lizzie lived a life full of friends,<br />

dancing and laughter. She<br />

provided inspiration for her<br />

family’s involvement in TSA,<br />

which has continued for<br />

over 25 years.<br />


Fundraising<br />

Snapshot<br />

We need you! We depend on donations and fundraising from our TSC<br />

community. We’d love you to get involved and support TSA if you don’t<br />

already. You can make a big difference to our work – we need funding to<br />

continue to help and support you, our TSC families. Please call us to discuss<br />

how you can get involved on 0434 391 430 or email kate.garrard@tsa.org.au<br />

Thank you to all our generous supporters around Australia who help<br />

make our work possible.<br />

Comedy for a Cure is coming to Sydney<br />

Tickets are now on sale for Sydney’s first Comedy for a Cure to be held on Saturday<br />

26 <strong>October</strong> at Paddo RSL. We hope you will join us for a night where we will harness<br />

the power of laughter to raise critically needed funds to help people affected by TSC.<br />

Comedy for a Cure will feature a fantastic line up of comedians with Peter Berner<br />

headlining the show. We hope you will come along and bring your family and friends<br />

too! More details on the back page of <strong>Reach</strong> <strong>Out</strong>.<br />

Lizzie’s Lunch<br />

The 6th annual Lizzie’s Lunch was held on Sunday 2 June at The Hills Lodge in Castle Hill.<br />

It was a fantastic event made possible thanks to the extraordinary efforts and dedication<br />

of Lizzie’s mum, Sue Pinkerton. There were many people who came together to make it a<br />

special day. Thanks to our fantastic Master of Cereominies Ron Wilson, parent speakers<br />

Natalie and Mark with their gorgeous boy Sammy, and our hard-working volunteers Paul,<br />

Tom, Ellie, Sam, Nina and Deb. And, of course, thank you to all the generous guests in the<br />

room who raised an amazing $22,000. These funds will have a big impact on TSA’s work<br />

with and for the TSC Community.<br />

Lizzie’s Lunch<br />

#Heroes4Kristian<br />

Kristian’s team of heroes have donated<br />

almost $8,000 in honour of Kristian who<br />

lives with TSC. On Sunday 31 March the<br />

Kalymnian Club hosted a car and bike show<br />

fundraiser for TSA. They had a great turn<br />

out, despite the chilly Melbourne weather,<br />

and raised $4,600. Thank you to everyone<br />

who supported<br />

this fantastic<br />

event and to Jo<br />

and Kon Romios,<br />

Kristian’s<br />

parents, for<br />

inspiring<br />

this generous<br />

contribution.<br />

Kristian<br />

Memberships<br />

TSA relies on memberships to fund its programs and services and ensure<br />

everyone can access our services for free. We are grateful to all our members<br />

for your generous contributions. Many memberships have recently expired.<br />

We hope we can count on your support again this year. We have also set up a<br />

recurring membership option. If you choose this, your membership will renew<br />

automatically each July so you won’t have to worry about it expiring ever again!<br />

Good news on grants<br />

TSA has been working hard to secure grant funding for several new projects.<br />

We’ve had some small and some big wins which we are very excited about.<br />

We’d like to thank nib foundation, Ian Potter Foundation, Lotterywest, the<br />

Centre for Community-Driven Research, Universal Charitable Fund and the<br />

Department of Social Services for looking favourably upon our applications<br />

and partnering with us to help people living with TSC. These grants will help<br />

TSA launch new diagnosis resources, run educational events for families and<br />

a TSA’s new nurse service.<br />

22<br />

<strong>Reach</strong><br />

<strong>Out</strong><br />

OCTOBER <strong>2019</strong> ISSUE 110

Fundraising<br />

Meet our TSC Heroes<br />

NIB team<br />

Our partner nib foundation<br />

got a team of 30 staff<br />

together to participate in<br />

Sydney’s City2Surf. They<br />

raised $3,121 and then nib<br />

matched every dollar. What<br />

a fantastic effort!<br />

TSC Hero Tess<br />

Tess ran the London<br />

Marathon and raised $2,000.<br />

She is also going to participate<br />

in the New York Marathon<br />

later this year. Go Tess!<br />

TSC Heroes Melissa and team<br />

Our TSC Hero Melissa put<br />

together a team of colleagues<br />

from HMAS Warramunga for<br />

Perth’s Run for a Reason. Here<br />

is a photo of them training for<br />

the big day. They raised $648.<br />

Great job!<br />

TSC Hero Natasha<br />

Natasha ran in Sydney’s Half<br />

Marathon on 15 September in<br />

honour of her granddaughter<br />

who was diagnosed with<br />

TSC late last year. So far she<br />

has raised $4,000. Well done<br />

Natasha!<br />

Will you be a #Hero4TSC?<br />

Many of our TSC community already support our work in a variety of ways for which we are enormously<br />

grateful. Now we are making it even easier to encourage your family and friends to donate in honour of<br />

your family or the person you know with TSC under an individual #Heroes4TSC campaign.<br />

See the photo we’ve created for Caleb’s hero page.<br />

Set up a hero campaign. It’s simple! Just call Kate or visit https://tsa.org.au/heroes4TSC/<br />

Sammy<br />

Tax-time appeal,<br />

another success<br />

A massive thank you to everyone in our<br />

TSC community who so generously<br />

supported our tax-time appeal this<br />

year. Gorgeous little Sammy helped us<br />

spread our message. Over $7,000 was<br />

donated to help fund our services and<br />

program.<br />

Budget Petrol Station<br />

Thanks to the efforts of Lilly’s parents, Michael and<br />

Chauntelle, customers visiting Earlwood’s Budget<br />

Petrol Station have been encouraged to donate their<br />

change to TSA with a donation tin at the register.<br />

They raised $777. Great job!<br />

Join our team of TSC Heroes<br />

Do you run, walk, swim, cycle? Why not join our TSC Hero<br />

team and participate in a fun run, marathon or triathlon as a<br />

tribute to the person you know with TSC.<br />

Our TSC Hero teams are located all around the country.<br />

You can have a go and become a hero too. It’s easy – just follow<br />

our TSC Heroes Facebook page, find an event in your city,<br />

then engage with your family and friends to make donations.<br />

Check out our website for more information.<br />

Upcoming Fundraising Events<br />

Sunday 13 <strong>October</strong> <strong>2019</strong> - Melbourne Marathon<br />

Sunday 20 <strong>October</strong> <strong>2019</strong> - TSC Hero Burnie 10<br />

Saturday 26 <strong>October</strong> <strong>2019</strong> - Comedy for a Cure, Sydney<br />

Sunday 3 November <strong>2019</strong> - TSC Hero NY Marathon<br />

Sunday 14 June 2020 - Save the Date - Lizzie’s Lunch<br />

Thank you again to all our supporters for your extraordinary help. YOU make a<br />

difference to people living with TSC. We couldn’t do it without you.<br />





Comedy for a Cure is coming to Sydney this<br />

year on Saturday 26 <strong>October</strong>. This great<br />

night will harness the power of laughter to<br />

raise critically needed funds to help people<br />

affected by TSC.<br />

Please come along and invite your friends,<br />

family and colleagues to join us too. It’s a<br />

fun way for your network to show their<br />

support. There is special reserved seating<br />

for groups of 10 or more.<br />

All funds raised from this night will be<br />

used to ensure children and adults living<br />

with TSC across Australia have access to<br />

ground-breaking new treatments and<br />

research that are taking us closer to a<br />

cure for this devastating disease.<br />

Get your tickets now!<br />


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