Australasian Reach Tuberous Sclerosis Society OutNov 2012 Issue 96 Farewell to Sue Pinkerton P7

Knowledge Gained P 9

A Positive Outlook P13-14 www.atss.org.au ATSS News Contents

Editorial...... 3 President’s Report...... 4 Treasurer’s Report...... 5 ATSS Supporter Renewals...... 5 Membership Report...... 6 Farewell to Sue Pinkerton...... 7 Elizabeth Pinkerton Memorial Award...... 8 Knowledge Gained and Connections Made in Melbourne...... 9 Committee Changes...... 10 Sydney Seminar Day...... 10 Perth 2013...... 11 Hope for the Future...... 12 A Positive Outlook...... 13-14 Still My Darling Julia...... 15 Research News...... 16 2012 TSC Clinical Consensus Conference...... 17 So Much More Than A Facelift...... 18 Supporters & Donations...... 19 Calendar of Events...... 20

Australasian Tuberous Sclerosis Society Inc. President Debbie Crosby Who are we? Vice President Vacant The Australasian Tuberous Sclerosis Society is a voluntary organization established in 1981 to connect families affected by Tuberous Sclerosis Treasurer Hayley Hill Complex. There are hundreds of members around Australia, New Zealand and Membership Secretary Hayley Hill internationally, including families living with TSC and professionals from the Minutes Secretary David Matheson medical, caring and education fields. Committee Members Mary Beijerinck-Gooley Our Vision: Kate Green That TSC families are empowered through access to information and support. Narelle Kerr Sally Nicholson Our Mission: Kate Norris As the only Tuberous Sclerosis organization in Australia and New Zealand, we: • Provide access to current information and resources; Janiffer Reynolds • Help TSC families build relationships and support networks; Life Members Lynn Wilson OAM JP • Ensure best practice management and care for TSC affected people in Australia and Andrew McKinnon JP New Zealand. Public Officer David Matheson Medical Advisory Board Dr David Mowat, Need more information about living with TSC? Clinical Geneticist More information about Tuberous Sclerosis Complex is available at: The ATSS website: www.atss.org.au Dr John Lawson, Tuberous Sclerosis Alliance, USA: www.tsalliance.org Paediatric Neurologist Tuberous Sclerosis Association, UK: www.tuberous-sclerosis.org Project Manager Clare Stuart Email or call us to get in touch with a volunteer in your area. ATSS has regional contacts throughout Australia and New Zealand that can help you with the challenges of living with TSC and connect you with services and other families in your local area: 1300 733 435 or [email protected] Not in Australia or New Zealand? ATSS is a founding member of Tuberous Sclerosis Complex International, a worldwide association of Tuberous Sclerosis Complex organizations. Tuberous Sclerosis Complex international, www.tscinternational.org

2 Reach Nov 2 012 Issue 96 Out ATSS News Editorial

David Matheson – Editor ife has a way of bringing the unex- after a diagnosis as they adjust to their unexpected L pected to us. If we sat down as a life. Often there is less need for support as time young adult and listed the things we goes on and they have adapted to living with expected to do in our lives for the Tuberous Sclerosis. It still continues to present next, say, twenty years, then wrote a challenges, but it is not as overwhelming as the list twenty years later of the things initial stages. we actually did do, for most people ATSS also has to adjust to new challenges. there would be some things the same, Sue Pinkerton, who led and guided the Society but also quite a few differences. We for nearly two decades, is no longer President. reach some goals, but things that we had Sue helped the Society to grow and has enabled it to never imagined happening end up being provide a wide range of services to meet the needs of part of our lives. The differences can be experi- those living with TSC. She will be missed by all those who ences we treasure, but also significant challenges. have been supported by her work for ATSS. But the Society will Unexpected events happen to everyone, but are a particu- now continue under the leadership of incoming President Debbie lar part of the lives of families affected by Tuberous Sclerosis Crosby. Fortunately Sue has provided a sound basis for the Society Complex. The vast majority of those receiving a diagnosis of to move forward. ATSS will continue to support families as it TSC have never heard of it before. They may be an individual moves in new directions. whose life has suddenly taken a strange twist involving pos- This issue of Reach Out contains the annual reports of ATSS. sible health problems and genetic complications, or parents They show the many and diverse activities of the Society over of a newly diagnosed child who now face an uncertain future the last twelve months. Also in this edition are three different with a whole range of potential medical issues. Negotiat- personal experience stories that show how different families have ing life with TSC is not what we expected to be doing. It is adapted to the life that TSC has brought them. I hope that in tempting to think, “This is not what I signed up for.” the pages of Reach Out you find something that will help you Yet, despite living with Tuberous Sclerosis Complex not being deal with the unexpected challenges of living with Tuberous what we planned, most people manage to successfully adapt their Sclerosis Complex. President Debbie Crosby lives to whatever it brings. It can be quite traumatic initially, but Vice President Vacant after some time life falls into a new rhythm. TSC was not what Treasurer Hayley Hill we imagined, yet somehow we find a way to live in a different way TSC was not what we imagined, Membership Secretary Hayley Hill and meet the challenges with our best efforts. yet somehow we find a way to live in a Minutes Secretary David Matheson The Australasian Tuberous Sclerosis Society has provided Committee Members Mary Beijerinck-Gooley support to people affected by TSC for many years. A large number different way and meet the challenges Kate Green of these people find the support invaluable in the early stages soon with our best efforts. Narelle Kerr Sally Nicholson Kate Norris Janiffer Reynolds Life Members Lynn Wilson OAM JP Andrew McKinnon JP Public Officer David Matheson Reach Out: Official journal of the Australasian Tuberous Medical Advisory Board Dr David Mowat, Sclerosis Society, Inc. Clinical Geneticist 17 Linksview Road, Springwood NSW 2777 Dr John Lawson, Telephone: 1300 733 435 Paediatric Neurologist Website: http://www.atss.org.au Project Manager Clare Stuart Email: [email protected] Australasian Tuberous Sclerosis Reach Out Editor: David Matheson [email protected] Society Disclaimer The opinions expressed in this journal are those of the authors and are not official pronouncements of ATSS Inc. Permission Permission must be sought from the authors or publishers to reproduce in any way articles or information contained in this journal. Once permission is received the source must be acknowledged.

3 ATSS News President’s Report Report presented to the Annual General Meeting, 12 August 2012

Sue Pinkerton - President

t is with both pleasure and pride that I The annual Seminar Day held at Sydney sheet on Tuberous Sclerosis. The Centre for Ipresent the President’s Report to the 31st Children’s Hospital, Randwick, continues Genetics Education is funded by New South Annual General Meeting of the Australasian the provision of TSC related information Wales Health and is the key organisation in Tuberous Sclerosis Society. for parents and people affected by TSC. Australia providing information on various This past year has witnessed the most Planning is underway for a conference in aspects of genetics and genetic diseases to extraordinary developments in the ATSS. Perth in 2013. health professionals and the public. Following a very busy and successful year in In last year’s Annual Report I With the employment of a Project 2011 when over $200,000 was raised for the highlighted the need for ATSS to respond Manager, ATSS infrastructure has been Topical Rapa TREATMENT Trials, this past to the ever increasing opportunities for strengthened with a number of policies year has seen the inclusion of the Sydney growth. For many years I had hoped that written and approved by the Committee. Children’s Hospital as a research site for the one day ATSS would be in a position to The future for ATSS is exciting. This is international study into topical Rapamy- employ a part-time worker. The major a dynamic and vibrant group with clear cin. Many generous donors contributed to response of ATSS to the opportunities directions for growth in services for all this ongoing project which will eventually for development was the employment families living with TSC. improve the lives of so many TSC affected of a Project Manager. Clare Stuart was This positive future is due to a people. employed in this role for 10 hours per week number of people whom I would like to The 5-year strategic plan was revisited from November 2011. This role would acknowledge: and has informed this year’s ATSS activities. relieve the dependency for the growth of I would like to thank Hayley Hill, Fulfilling the ATSS vision that TSC ATSS on the small voluntary committee. for her tireless and generous work as families are empowered, through access to The position was possible due to a grant the ATSS Treasurer and Membership information and support has been a goal of from Novartis Pharmaceuticals Australia, Secretary. Working closely with the Project the year’s activities. who funded the Resource Directory Manager, Hayley has brought the ATSS The very successful and well attended Project which culminated in the recently into the financial technical age, learning “Riding the TSC Wave” family and medical launched new ATSS website. This project and establishing new processes to benefit conference was held in Sydney in October was delivered by the Project Manager and members and donors. Hayley is also the 2011. This was the first event of a year my thanks are extended to Clare Stuart for ATSS Facebook Administrator. focused on providing opportunities for her professionalism, initiative and drive I also acknowledge the long-term Australian and New Zealand families in fulfilling so many activities in only 10 commitment of David Matheson in editing to hear international and local TSC hours of paid employment. Clare has also the bi-annual ATSS journal Reach Out. May experts, to meet other families and be driven the abovementioned interstate was the first edition with a fresh new look, empowered through increased knowledge family conferences; organising, facilitating and a change of designer and printer to align and understanding of TSC. This event and bringing them to fruition. Now is with the new website. This valuable resource was made accessible to families via travel also an appropriate time to thank Clare is always highly anticipated by members. grants funded by the Federal Department for her many years of voluntary work as David also keeps the accurate and detailed of Families, Housing, Community Services a Committee Member with particular minutes of all meetings. and Indigenous Affairs. responsibilities for IT development. I would also like to thank every member This popular event was followed by a During the past 12 months, stronger of the committee who has given of their Top of Mind Meeting in collaboration with networks with other professional time and skills, some for many years Epilepsy Action in Brisbane in November. organisations have been developed, raising despite difficult personal circumstances. ATSS also held a meeting for Queens- the profile and professional recognition In particular I would like to acknowledge land families in Brisbane in May during the of ATSS. Clare, as Project Manager, the work of Deb Duffy, who was a valued International Neurology Conference. This has developed strong links with other member of the committee and held the was followed by a conference called “Making organisations, collaborating with a range position of Vice-President for part of this the Puzzle Easier, Together” in Melbourne of government and NGOs as listed in the year. I would also like to thank the families in June. This meeting, held at the new Royal Project Manager’s Report. Included is her of all Committee Members and regional Children’s Hospital was well attended by work with TS Alliance to shape the TSC contacts whose support is essential. TSC families and created opportunities for International agenda aiming to involve Victorian professionals to present with the other member groups in activities. two international Polish experts, Dr Sergiusz Clare collaborated with the Centre for Jó wiak and Dr Katarzyna Kotulska. Genetics Education to write their first fact ...Continued on page 6

4 Reach Nov 2 012 Issue 96 Out ATSS News Treasurer’s Report Report presented to the Annual General Meeting, 12 August 2012

Hayley Hill - Treasurer TSS financial accounts of 2011-2012 the flat membership fee. Thank you to are built into project budgets and are Awere audited by Rachel Goddard the many donors who have generously funded by the grants obtained to deliver (ACA). ATSS would like to thank Rachel become supporters and provided this these projects. I’d like to thank Clare for volunteering her time once again additional funding to ATSS. for all the hard work she has put into to audit the accounts. A copy of the ATSS expenses increased this getting the new website up and running, financial accounts follows this report. year due to increased activities. ATSS organising the Brisbane & Melbourne This financial year has resulted in plans for new projects and activities Conferences and also obtaining grants a loss for ATSS of -$51,690.73. This to be funded through various grants for these and future projects. is caused by the first payment, of to ensure that cash reserves are Most of the general expenses approximately $97,000, for the clinical maintained. Expenses related to the were less than the previous year. The trial for topical use of Rapamycin being Family Conference in October 2011 were telephone expenses are up due to having due this year. This money was raised in covered by a grant from the Department more teleconferences with different prior financial years. of Families, Housing, Community states over the year. Travel costs have ATSS received many generous Services and Indigenous Affairs increased primarily due to ATSS staff donations over the past year. The (FaHCSIA) and from an educational and volunteers travelling to the Brisbane breakup of the donations received for grant from Novartis Pharmaceuticals and Melbourne ATSS events. this financial year 2011-2012 are: ($30,000). Expenses relating to the ATSS currently holds the following term – General Donations $ 29,932.52 Resource Directory and the Brisbane deposits: – Donations to Rapamycin Topical and Melbourne conferences were – C BA - Elizabeth Pinkerton Memorial Cream Research Fund $ 3,358.00 covered by educational grants from $ 5,000.00 General donations are up by Novartis Pharmaceuticals ($40,000 and – C BA Term Deposit maturing 19/8/12 approximately $20,000. This is a $8,000 respectively). $109,197.54 fantastic result that was triggered in The employment of Clare Stuart as – M acquarie Term Deposit maturing part by the introduction of gold, silver ATSS Project Manager in November 2011 12/10/12 $ 29,966.89 and bronze supporter levels in place of was a milestone for ATSS. Clare’s wages The Commonwealth Bank Cash Investment Account is currently $126,385.31; this is high due to one of the CBA term deposits closing, is receiving interest at a rate of 3.25%, and ATSS Supporter Renewals is working similar to a normal cheque ATSS Supporter Renewals were due on 1 July 2012. account. Thank you to all who have renewed since the last The balance sheet shows assets of issue of Reach Out in May 2012. If you have not paid over $280,000. A large proportion of this is allocated to in-progress projects, your renewal you will find a reminder insert in your including more than $100,000 still to issue of Reach Out. be contributed to the clinical trial for Please take the time to update your details, including Topical Rapamycin and $20,000 still your email address, on the renewal form. This helps us to be spent on the Resource Directory setup and running costs. Excluding to inform you of upcoming events and other news in these allocated amounts, ATSS reserves between editions of Reach Out. are over $100,000 which is in line with You can also renew your support online at www.atss. our goal to have sufficient cash in org.au. Other ways to keep up to date are by regularly reserve to run ATSS for three years. ATSS funds could not grow without checking the ATSS website and by finding us on the continuous help and support from Facebook. its generous members and their friends. On behalf of the hundreds of TSC affected families that benefit from the work of ATSS, I thank you.

5 ATSS News Membership Secretary’s Report Report presented to the Annual General Meeting, 12 August 2012 Hayley Hill – Silver Supporters 23 has seen many great discussions on various – Bronze Supporters 66 aspects of life with TSC. The members of s of 30th June 2011 the ATSS Mem- As at 30th June, a total of 83 Supporters this group have told us it is a fantastic way Abership Database held a total of 564 have prepaid for 2012-2013 financial year. to meet other people who are either affected details of past and present Members. This includes 29 Gold, 21 Silver and 33 personally or have a family member who is 250 of these are active financial Bronze Supporters. It is expected that affected by TSC from all over Australia and members. 314 are inactive, meaning their approximately 50 more will renew over New Zealand. contact details are unknown or they have the next year. Reminder notices for ATSS Clare Stuart, the ATSS Project not renewed their membership. Supporters for 2012-2013 will be included Manager, assists me in managing the The active members are comprised of: in the next issue of Reach Out in November. Facebook Group. Clare also manages – Families 131 ATSS is grateful to those members who the official ATSS Facebook Page called – Honorary 23 have renewed membership promptly for Australasian Tuberous Sclerosis Society. This – Organisations 12 this year and welcomes new supporters. is another way for ATSS to share up to date – Professionals 84 Active members are posted a copy information and fantastic events that ATSS The introduction of gold, silver and of Reach Out, the ATSS journal that is are holding. This page has a timeline focus bronze supporter levels was well received by published twice a year. Members may also whereby people can look at the past and see current members. This programme offers opt to receive Reach Out electronically. the wonderful things ATSS have achieved three levels of support to choose from: In response to the evolving use of over the years. Bronze $25, Silver $50 and Gold $100. Facebook, the ATSS Facebook Group On behalf of the ATSS Committee, I From each of these $5 is a membership fee recently changed names from Australasian hope that you and your families find Reach and the remaining amount a donation. Tuberous Sclerosis Society to Discussions of Out, the ATSS website and our Facebook For the 2011-2012 financial year, there were: Australasian Tuberous Sclerosis Society. This group and page informative. You feedback – Gold Supporters 58 group currently has 216 members. This year and suggestions are always welcomed. President’s Report ...Continued from page 4

I extend appreciation and gratitude to for giving up their time with Mum, and Somewhere ages and ages hence: the growing number of ATSS Medical to Ross for giving up his time with his Two roads diverged in a wood, and I Advisors, particularly Drs David Mowat, wife. Instead she took phone calls from I took the one less travelled by, John Lawson and Orli Wargon, who have families at all hours of the day and night, and that has made all the difference. supported the goals of ATSS in develop- edited and compiled quarterly editions Like many of you, the Pinkerton family ing best practice models of care, actively of Reach Out, developed the tradition took the road less travelled when our Lizzie participated in research projects, and of the annual Seminar Day and Family was born. It is a journey I would take again encouraged medical expertise in TSC. Conferences, established professional because it made such a difference to our The 2012 Annual Report will be my relationships with medical professionals, lives. It was Lizzie who was the reason for last, as I am not standing for re-election and worked with the committee to raise my passion and commitment to improving and I am resigning from the Committee. funds to grow the work of ATSS for all our lives and the lives of so many others. Before I conclude this report I would TSC affected families. Everything has a season and my like to acknowledge the people who I know it has been worthwhile as season as President of ATSS is over. I am made it possible for me to be in this ATSS is a thriving organisation with many confident that the future for TSC families role for the past 19 years: my family. remarkable achievements to be proud of and ATSS in particular is secure as the When I became a Committee Member for such a small voluntary group. I have people, internal structure and finances are some 25 years ago little did we know the tried to make a positive difference during in place, and support from families and commitment the whole family would my involvemewnt with ATSS and it has professionals is strong. I know the legacy make to ATSS. It is only fair to recognise been a privilege to serve and be a part of the I leave is in good hands with dedicated, the contribution they have made which history of this genetic support group. committed people to take this remarkable made it possible for me to accomplish Receiving a diagnosis of TSC can cause organisation into the next stage of its what has been achieved for ATSS and the whole family to live a different life to service to TSC families. every TSC affected family in Australia. the one they imagined. As Robert Frost says This concludes the 31st President’s So, I thank Nick, Clare, Sam and Tom in the poem The Road Not Taken: report to the Annual General Meeting.

6 Reach Nov 2 012 Issue 96 Out ATSS News Farewell to Sue Pinkerton

ue Pinkerton has completed her final Sterm as President of the Australasian Tuberous Sclerosis Society. ATSS will con- tinue as a vibrant organisation under new President, Debbie Crosby, while Sue moves on to new challenges in other areas. As President of ATSS, Sue Pinker- ton dedicated countless hours of work to improving the lives of families affected by Tuberous Sclerosis Complex. She has guided the growth and development of ATSS to ensure that it continues to be of support for families in new ways. Sue joined ATSS in 1985 after the birth of her daughter Lizzie, who was diagnosed with TSC at seven months; in 1986 she joined the ATSS Committee. Sue became the President of ATSS at the Annual General Meeting in 1994 and served as President until 2001. She remained as a member of the Committee until 2003 when she became President again, continuing in that role until this year. Sue has overseen and been the driving force of numerous major achievements of Debbie Crosby and Sue Pinkerton ATSS over many years. These include: • The introduction of family conferences, other interested people. the TREATMENT trial. This trial is part one of the Society’s major activities. • ATSS receives no ongoing Government of international research These conferences provide the oppor- funding. Sue actively sought funds for • Establishment of the annual Elizabeth tunity for families affected by Tuberous ATSS through writing submissions for Pinkerton Memorial Award for a health Sclerosis to hear professional speakers special projects, encouraging donations, professional in Australasia who has present on a range of topics. Sue organ- and the development of other fundrais- made a significant contribution to the ized and arranged many conferences, ing initiatives. A partnership has been management and treatment of TSC af- and facilitated their smooth running. established with Novartis Pharmaceu- fected people. • As President, Sue established and main- ticals. • It was one of Sue’s hopes for many years tained connections between ATSS and a • The establishment of a genetic test- that ATSS would be in a position to have number medical and other profession- ing laboratory in Sydney for Tuberous a paid employee. This was achieved in als. This has enabled members of ATSS Sclerosis. This laboratory is the first 2011 with the employment of a part- to have up to date information regarding in Australia to offer gene testing for time Project Manager. research and treatment of the symptoms Tuberous Sclerosis, and is also the first Sue has encouraged and inspired others of Tuberous Sclerosis Complex. non-profit genetic testing facility for by her energy and commitment. She has • Sue gave numerous presentations TSC in the world. devoted her time to the work to ATSS in a regarding Tuberous Sclerosis Complex. • Production of an Australian DVD about purely voluntary capacity. Over the years she These have included speaking to medi- Tuberous Sclerosis Complex, ‘You Are has been a vital contact for many families cal students about TSC, and presenting Not Alone’. affected by Tuberous Sclerosis and has at meetings of service clubs such as • The ATSS 2007 Medical and Family provided valuable information and support. Rotary. Conference. This was the first time in Sue’s leadership has ensured that ATSS will • Sue assisted with the establishment Australia that international experts and continue to meet the needs of families af- of the Association of Genetic Sup- Australian medical professionals and fected by Tuberous Sclerosis Complex. port Australia, an umbrella group for families affected by TSC were brought As a wife and mother, as well as working support groups for those affected by together. The conference was held at the full-time as a teacher of hearing impaired genetic disorders, and was a member of Sydney Children’s Hospital in Novem- children, Sue has been able to balance care its inaugural committee. ber 2007 and was officially opened by for her family and a professional career with • Sue answered many telephone calls from Her Excellency Marie Bashir, Governor dedication to the work of ATSS. A remark- families and individuals affected by of New South Wales. able achievement. TSC, and responded to correspondence • Sue worked in conjunction with staff at from families, medical professionals and Sydney Children’s Hospital to establish

7 ATSS News Elizabeth Pinkerton Memorial Award

t the Australasian Tuberous Sclerosis Epilepsy Society of Australia. ASociety’s Annual General Meeting in Dr Lawson has an extensive portfolio August, the annual Elizabeth Pinkerton of research into paediatric epilepsy Memorial Award was presented to Dr John and neurology. His interests include Lawson. Elizabeth lived with Tuberous enhancing the diagnosis and management Sclerosis and Polycystic Kidney Disease. of children with epilepsy and Tuberous She was the inspiration for the Pinkerton Sclerosis Complex. Publications have Family’s dedication to the work of ATSS. focussed on new imaging techniques in Dr John Lawson is a Paediatric childhood epilepsy, as well as the effect of Neurologist and Epileptologist at the epilepsy on quality of life and cognition. Sydney Children’s Hospital, Randwick, Current projects include epidemiology of and Conjoint Senior Lecturer at the TSC, out-of-hospital use of midazolam University of New South Wales. He for emergency management of seizures, completed his medical degree at the and efficacy of the ketogenic diet for University of Newcastle and Diploma of intractable epilepsy. In addition, Dr Paediatrics at the University of New South Lawson is also an Investigator on a Wales. In 2003 Dr Lawson was conferred George Institute led study investigating his PhD from the University of New South the incidence of epilepsy and illness Wales in “Quantitative MRI Studies in consequences in metropolitan Sydney, Childhood Epilepsy”. He completed his and a Novartis sponsored multi-centred Neurology Fellowship training at the international trial investigating the use of Sydney Children’s Hospital, Randwick, Everolimus for treatment of SEGA in TSC. and the Miami Children’s Hospital, a Dr Lawson is a highly respected Centre of Excellence for epilepsy surgery Paediatric Neurologist and much loved by in the United States of America. his patients. His dedication to enhancing Dr Lawson is a Fellow of the Royal the diagnosis and medical management Australasian College of Physicians, and of epilepsy is evident in his commitment a professional member of the Australian to patients and indeed is reflected in his Association of Neurology, Australian role as Medical Advisor to the Australian Child Neurology Study Group and Tuberous Sclerosis Society. Elizabeth Pinkerton

Dr Lawson (second from right) with Ross & Sue Pinkerton (parents of Elizabeth Pinkerton) and Clare Stuart (sister of Elizabeth Pinkerton)

8 Reach Nov 2 012 Issue 96 Out Events Knowledge Gained and Connections Made in Melbourne The 2012 ATSS Family Conference

une saw the biggest Tuberous Sclerosis and side effects seen in clinical trials This event was made possible by Jevent ever held in Melbourne. An of mTOR inhibitors (these include the support of many people. Dr Simon enthusiastic group of families and health Sirolimus/Rapamycin and Everolimus/ Harvey, in addition to being a fantastic professionals gathered at Royal Children’s Afinitor) as well as novel treatment speaker, assisted in organizing the Hospital for the ATSS conference. approaches for epilepsy in infants meeting and securing the fantastic The conference provided different diagnosed with TSC. Other highlights venue within the newly renovated Royal perspectives from different speakers: included a summary of epilepsy surgery, Children’s Hospital. The event was three neurologists, an epilepsy nurse, a a great discussion about treatment funded by an unrestricted educational neuropsychiatrist, a kidney specialist, approaches for kidney involvement in grant from Novartis Pharmaceuticals and a support organisation manager and a TSC, and advice on accessing services in the generosity of ATSS’s supporters. And geneticist all addressed different aspects Victoria for children with a disability. of course, many thanks to the dedicated of TSC. Many of the slides are available on the speakers who volunteered their time on Leading TSC researchers from ATSS website. a weekend to speak with families and Poland, Professor Sergiusz Józwiak As with most ATSS events, the day attend conference sessions. and Dr Katarzyna Kotulska, shared was an opportunity for families to The 2013 family conference will be the latest results from international connect with each other. Stories were held in Perth in March and a Seminar Day research studies into epilepsy treatment, shared formally and informally. Our will be held in Sydney in August. Both SEGA surgery and new medicines for thanks to Narelle Kerr and Adam and events will be opportunities to refresh TSC. This included the effectiveness Les Cope who shared TSC stories. information and renew connections.

Brisbane ‘Meet the Expert’ Evening

Prof Sergiusz Jóźwiak and Dr Katarzyna Kotulska, who spoke at Melbourne Conference, travelled to Australia for the International Child Neurology Congress which was being held in Brisbane. During the congress, ATSS hosted a ‘Meet the expert’ evening. Several families from around Brisbane heard from Sergiusz and Katarzyna as well as Dr David Mowat. Dr Katarzyna Kotulska and Prof Sergiusz Jozwiak in Brisbane

Dr Simon Harvey speaking to conference participants in Melbourne

9 Events Sydney Seminar Day he ATSS Seminar Day was held on Sunday, 12 August TSC Consensus Meeting’; Tat Sydney Children’s Hospital, Randwick. Speakers and Dr Vanessa Sarkozy, Developmental Paediatrician, ‘As- their topics were: sessment and Beyond’. Associate Professor Ernie Somerville, Neurologist, ‘When ATSS thanks all speakers for their time and to all families medication doesn’t help’; who participated in the day. David Mowat, Clinical Geneticist, ‘Outcomes of the 2012

Committee Changes

At the ATSS Annual General Meeting in August a new Committee was elected. Debbie Crosby was elected President. As mentioned elsewhere in Sue Pinkerton decided not to stand for re-election after many years as President and Committee Member. The position of Vice- President remains vacant. Hayley Hill will continue as Treasurer and Membership Secretary, while David Matheson remains Minutes Secretary. Newly elected Committee Members are Mary Beijerinck- Gooley and Kate Norris. Congratulations to all on the Committee, especially the new Committee Members, for volunteering your time to assist the work of ATSS.

Tuberous Sclerosis Complex Global Awareness Day lans are underway for the second Tuberous Sclerosis Complex PGlobal Awareness Day on 15 May, 2013. Celebrations will include the ATSS National Picnic Day on 19 May. Subscribe to our e-Newletter to find out more.

10 Reach Nov 2 012 Issue 96 Out Events

11 Personal Stories Hope for the Future Joy McArthur

ver the many years that the ATSS Omagazine has been published I have read the heartbreaking stories of things that have happened to all of you and the story I am going to tell you should give everyone a lift and hope for the future. This will be a short potted version so there will be some aspects such as trauma, anger, fights, frustration and tears left out. My daughter Anne was born 48 years ago; our third child, and right from the beginning I felt there was something wrong with her. She cried nonstop and took petit mal fits from nine months of age. Doctors told me I was neurotic and not to worry: she would be fine. From age one to eight the fits continued and eventually we found a doctor who gave her Dilantin which fixed the fits and they ceased. When she was due to go to high

school the doctors found that she had Anne McArthur, aged 48 an enlarged left kidney and removed it, saying that she had polycystic kidneys. Anne did all right at school but was not Doctors told me I was neurotic and not to allowed to play contact sport. Anne obtained a secretarial position worry: she would be fine. but before she was 20 both her lungs burst, which meant that the plural cavity had to be decision to have to make knowing that you ly got on her feet, learned to walk, talk, filled with talc to stop further bursting. could die any time. eat and take notice of her surroundings At 21 years of age Anne took herself In December 2011 Anne was put on the again. In June she made it out of hospital off to Melbourne to live and work as far list and on 28 December she had a massive and into rehab and is now nearing the end away from her family as she could. Life 15-hour operation where they gave her two of her time there. It has been slow and was fairly normal for her until when she new lungs and a new kidney from the same tedious at times, but apart from a couple was 28 and was having a check-up at the donor. I cannot tell you what is has done of hiccups she has made a remarkable kidney specialist, she was told that she to the family, especially her father and I, as recovery. had Tuberous Sclerosis. At last we knew, neither of us are very young. But at last she My husband and I and her siblings will but after searching through both families looks like going to rehabilitation in a few always be eternally grateful to the donor we could find no one else with it. days time and God willing she will live to a and the team at the Alfred Hospital in In 1991, aged 26, Anne had to have ripe old age. Melbourne for all they have done for our a calcification removed from her brain, For months she had not eaten a thing daughter when there was no solution. She from which she made a full recovery. We through the mouth, or spoken a word or will always have to be careful and take were told at this time that ten years would walked, and has been totally reliant on great care of herself but knows she will be the longest she would live. the nurses for her every need. They are now lead a full life again. Anne continued to work and enjoy life. miracle workers as far as I am concerned. That was until about five years ago when Both my husband and I hope that this her remaining kidney started to deteriorate small contribution will give others hope It has been slow and her lungs started playing a part as well. where there doesn’t seem to be much. About two years ago she was told that They know so much more now than they and tedious at times, but she had LAM and the only solution was did when Anne was born into this world. apart from a couple of a transplant. But the snag was she had to hiccups she has made a have the lungs and kidneys transplanted Post Script: remarkable recovery. at the same time because rejection drugs At the end of April Anne started to show would kill her if done singly. What a signs of recovery and since then has slow-

12 Reach Nov 2 012 Issue 96 Out Personal Stories A Positive Outlook

Debbie Crosby

y husband Anthony and I have two Mbeautiful daughters, Alana and Sophie. Alana, who is eight years old, has TSC, and Sophie is five years-old. I know I am biased but they are beautiful, funny, sweet and caring girls. I wanted to tell our story in the hope that it may help other families, especially newly diagnosed, and share the difficulties we have experienced. When we first bought Alana home and settled in for a couple of weeks, I kept on thinking that I was the luckiest mum in the world. She ate very well, slept very everything else that comes with a diagnosis the morning or if she was very tired. Even well and was a calm and content baby. At of TSC. The doctors’ appointments, though this sounded terrible to people the age of 6 months-old I noticed Alana ultrasounds, blood tests and all of the who don’t know about TSC, most days we started to have these jerking kind of emotional upheaval. Anthony and I also considered ourselves lucky, as she never movements and then she would fall asleep had tests and it was very overwhelming. had to be hospitalised because of a seizure. after them. It looked like she had reflux We had so many questions: Was our At this time she also became very or a very bad case of the hiccups. She daughter going to be okay? Would the whingey and irritated and she would cry was also very unsettled and would cry for seizures come back? Would she have for hours at a time. Because Alana couldn’t hours at a time, which was not like her at autism or a developmental delay? Looking talk or communicate with us we became all. After I noticed this a few more times, I back it now feels like a big dream. We very frustrated and didn’t know what took her to the GP and she was diagnosed were very lucky that we found a wonderful she was feeling and what she wanted. We with reflux and given some medication. neurologist and he tried to answer all of tried so many different medications and After a week or two I didn’t think it was our questions and we felt very supported. combinations of these, and some would reflux and our GP suggested I take her to After the diagnosis you have your help for a short while, but then the seizures a paediatrician. He examined her and good days and bad days, but we tried would come back. We even tried the saw the large white ash leaf on her tummy, to take one day at a time. Alana wasn’t modified Atkins diet for ten weeks, which which we thought was a birth mark, and having any seizures, but I was always made her feel very sick but we persevered he looked quite concerned and ordered a looking for signs. She did take longer to hoping the seizures would stop. They didn’t. CT scan. At that appointment he told me reach the normal milestones, but by the We were also dealing with autism. that he thought Alana was having infantile age of 18 months old she was walking and She didn’t like loud noises, and she would spasms and that they could be caused by started to babble and was a very happy sit in the corner and rock back and forth. Tuberous Sclerosis. Although doctors tell smiley baby. However she also began Because of the seizures and the autism you not to do this, every parent rushes showing the early signs of autism and we Alana would progress developmentally home and looks up Dr Google. That to felt like we were starting all over again with for a while and then a few months later say the least was not a very good idea. My another diagnosis. regress. We would wake up every morning husband and I were shocked, confused and We began early intervention and we didn’t know if we were going to became very worried about Alana’s future. and although she had a noticeable have a good day or bad day. We felt like I think we both knew at the time that developmental delay and some autistic we didn’t have any control and it felt like Alana did have TSC. behaviour, Alana was a very happy child things were never going to get better. After the CT scan, which showed many who loved to play and laugh. At the age However we persisted with therapy and she tubers in her little brain, our paediatrician of two and a half years the seizures came attended a fantastic inclusive preschool. diagnosed TSC. We were devastated. back. She was given medication and this We tried to lead as normal life as possible At this time Alana was still having helped for a while but she had absence and we decided to have our second child. infantile spasms, but by the time we saw seizures nearly every day. They would last This was not an easy decision and our neurologist, which was 6 weeks after for 10 seconds or up to 2 minutes and she any family would tell you the same thing. the first seizure, they had stopped. He would be very sleepy afterwards. Some We received genetic counselling before told us this was quite rare for them to days she would have one seizure and other we went ahead, and then decided to have stop without medication, and we were days there would be multiples. They would genetic testing when we got pregnant. quite relieved. However, we had to face come on more strongly after she woke in We are very grateful that Sophie is a very

13 Personal Stories

Although our story sounds challenging and at times very sad, Alana is one of the strongest and happiest children you will ever meet.

healthy and happy child. She is a very small improvements. However ten months procedures in hospital. We try and celebrate caring, empathetic and fun sister to ago we changed one of the medications every day that she is able to run, laugh and Alana, and she asks many questions about because it was causing side effects and play. We never forget that some children Alana and has some understanding of her the seizures came back. I think that like are not able to do these simple things. condition. many other families seizure control is so While I was writing this I thought about I knew having a second baby and frustrating and we struggle with this all the what is the hardest thing to deal with TSC. looking after Alana was going to be time. Luckily at the moment the seizures There are so many things but for us it is difficult, but I wasn’t prepared for what have stopped again and we are hoping it the lack of control over this disease. I can’t was to come. The first year after Alana stays this way for a while. control the seizures, and when we watch her was born was the hardest year of mine and TSC and autism cause many challenges have them we feel so helpless. I can’t switch Anthony’s life. Alana’s seizures became for Alana and our family. She doesn’t off the autism either. But the few things we more frequent and none of the medications talk, but does say the important words like have learned from having a child with TSC were working. We had tried eight different “Mum”, “Dad” and “Yum”. She attends are going to sound like clichés, but they are medications and several combinations a special needs school and loves it, and true. The most important things in life are of these. Some made her very sleepy last year she began attending vacation family, friends and compassion for others. and others gave her terrible tantrums care in the school holidays for the first It teaches us patience, perseverance and we and behaviour. We had tests to see if the time. She loves music and dancing, now take one day at a time. We appreciate seizures could be stopped with surgery, especially the Wiggles, and she gives the and celebrate the little things in life, and we but she was not a good candidate because best cuddles. Even though she has a severe tell our girls we love them and hug them the seizures were being caused by different developmental delay and autism we are way more times than they would probably tubers in her brain. She even began to have very lucky that Alana is quite a social child like us to. drop seizures where she would lean so who loves to play with her sister, she loves Even though we are dealing with far down she would drop onto her knees. going out, she doesn’t have any problems epilepsy, autism, AMLs in her kidneys, and They were very scary. with changes to her routine, and she loves all the other things that go along with TSC, She would also wake up at two or three to eat and try new foods. We also began compared to where we were five years ago, in the morning and not go back to sleep. a new type of autism therapy 18 months we are a stronger, happier family and we This would go on for months and months ago and her nonverbal communication have a positive outlook for Alana’s future. and it was exhausting. As a mum I also felt has really improved. This has made a big Eighteen months ago I decided to join very isolated as it was difficult taking both difference to our family life as we are able the ATSS Committee because I felt I wanted Alana and Sophie out together and we could to understand what she needs and wants. to give something back and help other TSC not do the normal things families do. Although our story sounds challenging affected families. In August I took on the Finally after three and a half years we and at times very sad, Alana is one of the role of President and it feels very rewarding found a drug combination that worked. At strongest and happiest children you will being part of a Committee that helps ATSS first I was very sceptical and thought that ever meet. We are very lucky that for most empower families and individuals through it wouldn’t last, but for two years she was of the time she is a calm and playful child access to the most up to date information seizure free. When the seizures stopped, who always has a smile on her face, even and support. Alana became much happier and she made when she is going through many tests and

14 Reach Nov 2 012 Issue 96 Out Personal Stories Still My Darling Julia By her grandmother Berice after the death of Julia’s great grandmother, Edna.

ulia, my granddaughter and Edna’s Jgreat granddaughter, was loved very much by Edna always, but especially during the frequent visits she paid to Edna in the nursing home. Many chil- dren do not like visiting nursing homes, but Julia, because of her TSC, plodded in and checked the tables of the four resi- dents in Edna’s room. Eventually she sat on a chair eating a lolly or two and she would also lie on one of the beds watch- ing a lady’s TV. When she thought we had visited long enough she would come over People must be stunned as the car goes by or to me and very seriously bow her head stops at lights with loud music with a thumping beat for Mum to give her a kiss goodbye. (This and a grandma at the wheel. sometimes happened more than once.) All the dear old ladies became quite attached to Julia and they would always for a bit longer during school holidays. Of lounge room and her DVDs and CDs; ask me when “the girl” was coming again. course I am super lenient! The discipline the bathroom and bath; my bedroom, She caused great concern twice over the comes from her dad and her school. They which is excellent to spend time in after years. Once when the community radio do it brilliantly but we all need some an organised routine - close the blinds, was fiddled with and their music disap- times to be stress free so Julia and I make switch off the light, close the door with a peared until someone knew how to fix it, the most of our time together! bang, climb under the bed covers together and another time when it became too hard People must be stunned as the car and sing. to resist plunging her hand into the tank goes by or stops at lights with loud music Sometimes I look across in the car of fish. The residents were mortified at the with a thumping beat and a grandma at or during a trip to the shops to see Julia’s time but eventually, or really quickly I sup- the wheel. Julia would be seen doing her beautiful brown eyes gazing steadily at pose, depending on their varying degrees strange hand signals and wild thrust to me. They are the same depth of feeling I of dementia, they forgot about it. the left or towards the windscreen repeat- have only seen in her dear dad’s eyes when I wrote to ATSS years ago under the edly pressing some control to give us a I had to break terrible news to him once title of “My Darling Julia”. She is still “My rendition of a few seconds worth of some- long ago. Darling Julia”. My dear 13 year-old grand- thing “really good” during our 40 minute Julia doesn’t speak but seems wise daughter is very special to me. My other five trip. We hear a repeat of this part all the in many ways – unwise in many too, I grandchildren kindly accept that I have a way home. must admit. She is never conscious of special love for her because she is different. When Julia arrives she checks all the how old or ugly anyone is or how hard or Julia lives at Windsor and I drive over special places in my house: her musical cruel things can be at times. Life is just to bring her to my place at Greystanes for toy collection in a box on the verandah; accepted and her hand is always ready to the weekend sometimes and she also stays the fridge, and she tastes contents; the hold mine and always will be.

15 Research Research News Update On The Treatment Trial

This trial is being funded by your generous donations to the Topical Rapamycin Cream fund.

ydney Children’s Hospital, Rapamycin is approved in Australia If you would like more information, SRandwick, NSW is participating to prevent organ rejection in people please speak with your treating in an international research study of a who have had a kidney transplant. physician who will be able to discuss new treatment for facial angiofibromas However, it is not approved to treat facial this treatment with you, or contact the associated with Tuberous Sclerosis angiofibromas. Study Coordinators at Sydney Children’s Complex (TSC) in children and The study aims to learn more about Hospital on 02 9382 1757 adolescents aged 17 years and younger. how safe and effective Rapamycin is when The treatment is an ointment which used in an ointment and applied to the contains a medication called Rapamycin. face over a six month period.

Other Research News

The first medicine to treat kidney A LAM Genome Wide Association Study Recently published articles on Tuberous symptoms of TSC has been approved is seeking participants with a confirmed Sclerosis include: by the Food and Drug Administration diagnosis of LAM from around the world. • A summary of TSC written for nurses (FDA) in the United States. The approval Drs David Kwiatkowski, Lisa Henske in The Journal of the American of Afinitor (Everolimus), an mTOR and Frank McCormack are initiating Academy of Nurse Practitioners inhibitor, for the treatment of renal a genome wide association study in angiomyolipomas (AMLs), occurred in LAM. Genome wide association studies • Guidelines from Europe for the April 2012. Applications for approval in (GWAS) are done to try to identify genes treatment of Epilepsy in TSC Australia and New Zealand will be made that predispose to disease development. • A study into the use of mTOR in 2013. It is important to remember Sometimes GWAS lead to identification inhibitors to prevent recurrence of a that many kidney AMLs do not require of genes that were completely unexpected SEGA after surgical resection treatment and that this medicine is only from prior knowledge. These doctors • Numerous publications of work one treatment option. A specialist kidney hope that this will be the case in LAM, that furthers our understand of the doctor can provide more information on pointing to the importance of a new underlying causes of TSC tumours the treatment of kidney AMLs. research direction and possibly even a This is an exciting development that new therapy for LAM. More information about these articles follows the approval of the same medicine Participating involves completing a and other research news is available on for the treatment of subpendymal giant questionnaire and a saliva sample. More the ATSS website. cell astrocytomas (SEGAs), a type of fast information about the study is available growing brain tumour that affects up to on the ATSS website. 20% of people with TSC. The 2012 International TSC Research A clinical trial into a new treatment for Meeting was held in Naples in September. epilepsy in TSC is in the early stages of Research presented covered a range of planning. Centres in Sydney, Brisbane, topics including the latest clinical trials Melbourne and Perth are all being into mTOR inhibitors, SEGA surgery case considered. More information will be reports, epilepsy management and quality provided on the ATSS website and in our of life studies. e-newsletter when it becomes available.

16 Reach Nov 2 012 Issue 96 Out Research 2012 TSC Clinical Consensus Conference Held in Washington, DC

They selected eight additional experts to lead working groups focused on key aspects of TSC

n June 14 & 15, 2012, more than Beginning months prior to the conference, These articles will describe the overall O60 health care professionals, each these groups communicated by phone consensus and highlight the importance of having expertise treating one or more and email to prepare questions, review comprehensive and co-ordinated care in aspects of Tuberous Sclerosis Complex the scientific literature, and set priorities. this disease that involves so many different (TSC), met in Washington, DC, to update This pre-work ensured the face-to-face medical specialists. The manuscripts will consensus recommendations for the discussions were efficient and productive. be submitted to an appropriate scientific diagnosis, surveillance, and management Indeed, consensus was reached during journal that will provide open access to of TSC. The prior guidelines were based the intense day-and-a-half meeting based everyone worldwide. The working groups on a 1998 consensus conference, and on evaluation of data in the scientific will also produce discipline-specific the TSC field has made tremendous literature and expert opinion. The most manuscripts to provide more detailed advancements in the meantime. The need significant change to the diagnostic guidance in journals that are frequently for updated guidelines for diagnosis, criteria was to enable diagnosis based on read by specialists in the area. surveillance and treatment was raised at genetic testing alone if an individual has a Together with our Medical Advisors, the 2011 meeting of Tuberous Sclerosis mutation in TSC1 or TSC2 that is known ATSS will publish a summary of the Complex International (TSCi) at which to cause TSC in other individuals or that recommendations that can be used there were three ATSS representatives. To produces a non-functional TSC1 or TSC2 a reference by families and health ensure the resulting recommendations protein. Recommendations for diagnosis professionals. We will also promote the would benefit from diverse perspectives of TSC based on clinical criteria, including guidelines in Australia to clinicians and and be internationally applicable, experts major and minor features of TSC, remain other health professionals. A future issue from 14 different countries were included. similar to the previous criteria, but of Reach Out will contain a summary of Drs Hope Northrup and Darcy the guidelines are simplified. Specific the guidelines and these will be posted on Krueger co-chaired this important effort. recommendations for the surveillance or the ATSS website and on social media. Together with the TS Alliance, they monitoring of individuals with TSC were The conference could not have selected eight additional experts to lead developed by each working group. happened without the hard work of the TS working groups focused on key aspects Similarly, recommendations for Alliance staff and the generous support of TSC: brain tumours, dermatology and treatment of the various manifestations of sponsors who donated funds without dental, epilepsy, genetics, neuropsychiatry, were updated based on the latest data. For playing a role in the planning or having a pulmonary, renal, and a collection of each feature of TSC, the recommended presence at the conference: the Rothberg additional manifestations including treatment approach, such as surgery vs. Institute for Childhood Diseases, Novartis, cardiac, endocrine, gastrointestinal, drug therapy, differed depending on Sandra and Brian O’Brien, and Questcor. and retinal. These group leaders, in the relative risks, benefits, and state of We are also grateful for the time and turn, selected representative experts to knowledge. Of course, every individual’s energy invested in this important effort participate in the effort. David Mowat, specific situation will influence choices by compassionate international experts to ATSS Medical Advisor, was selected to of treatment, but the consensus help improve the lives of those affected by participate in the Genetics working group. recommendations will help improve the TSC around the world. quality of care to everyone affected by TSC by providing state-of-the-art guidance to Adapted with permission from TS physicians around the world who are less Alliance Perspective, Summer 2012. Specific familiar with TSC. recommendations for the Drs Northrup and Krueger are surveillance or monitoring working on first drafts of the two over- of individuals with TSC arching manuscripts – one for diagnostic criteria and one for recommendations for were developed surveillance and management of TSC.

17 So much more than a facelift

Have you seen our new website? Go to www.atss.org.au and explore:

I need to know more for brand new information on the signs and symptoms of TSC, reviewed by ATSS medical advisors Newly Diagnosed for a series of guides to our new information tailored to prenatal, child and adult new diagnosis Living with TSC to explore the ATSS Resource Directory, a growing list of organisations, publications and websites to help families with TSC Ways I can help to make a donation, renew your support or sign up as a monthly donor

There’s also personal stories, events and our news blog. Sign up for the new ATSS eNewsletter to stay up to date between issues of Reach Out. www.atss.org.au facebook.com/AuTSC @AuTSC

18 Reach Nov 2 012 Issue 96 Out Fundraising Supporters & Donations For ATSS March 2012 – September 2012

Gold Supporters Silver Supporters Bronze Supporters General Donations & Donations. & Donations & Donations Frederick Alexander Lynne Abbott Peter Abery Peter Abery Michelle Baker Ray & Amanda Bryant Jim & Lisa Anfuso Frederick Alexander Mary Benedetti Linda Cameron Chris Atkins Lisa Allan Dawn Bowra Lucia DiFalco D & C Barron C Boulter Kerry Bromhead Pam George D Bartels Kerry Bromhead Peter & Helen Clisdell G Gray Leslie Bishop Peter & Helen Clisdell Michael Cochran Steve & Natalie Hale Monica Bonacci Michael Cochran Bruce & Katina Core Fiona Hiatt C Boulter Bruce & Katina Core Gail Cummins Berice Hopwood Pauline Brockett Gail Cummins Carly Davis Margaret Horn Michael & Catherine Catlow Elliott Cunnew (Triathalon) Rosemary Dow Pauline Kittel Bronwyn Cranmer Joy English Lloyd English Paul LaPouple T & D Curtis Peter Frilingos Joy English James & Lorraine Lowe Chris Doyle MaryAnne Hartley Graham & Shirley Faravoni Gemma Ludvigh R Drurt P Hennings Peter Frilingos Frank Martin Pam Edgell Tye Hoffman MaryAnne Hartley S.C. Malcolm McLean Kyrstie Ellwood Belinda Humphrey David & Hayley Hill Emma Morris Pam George Greg & Karen Jenkins Belinda Humphrey Peter & Joelle Neville Deepak Gill Odette Joannidis Lisa Liebman Dianne Nitz Marie Hell Paul LaPouple Peta Magann Shirley Peipman P Hennings Mikey Leung Adrienne Mateffy Sylvia-Rose Ralston Colin & Gloria Hoffman Lisa Liebman Sally McKillop Janiffer Reynolds Karen Holder Linda Mann Peter Mercer Chris & Mal Whatmore Karen Jenkins Geoff McClintock Nu Nguyen Kay Woodcock James & Sandra Laird Malcolm McLean Valerie Nhan Lalor Park Waratah Slimmers Valda Lang Peter Mercer Sally Nicholson Valleys to Plateau Community Gary Lee David Meredith Kevin & Louise Niklaus Support Services Mikey Leung Ny Nguyen Max Osborne Dawn Lonnie Sally Nicholson Catherine Panich Wayne Lord Kevin & Louise Niklaus Sue Pinkerton David Matheson Max Osborne Georgina Schilg Lachlan & Joy McArthur Trevor Owen David & Marianne Somerville Bernadette McGlynn Russell & Christine Phillips Nicole Stone Sally McKillop Rob Pinkerton Cameron & Samantha Stone Daniel & Madonna Nielsen Sue Pinkerton Jodie Trowell Beverley O'Reilly Sylvia-Rose Ralston Loren Wakeley Sharlene Oxenbridge Tracy Simpson Robyn Walker Natalie Phillips Clare Stuart Stephen Walker Nathan Reynolds D Taylor Catherine Wiles Michelle Roswell Jodie Trowell Sue Williamson Graeme & Jackie Shaughnessy Stephen Walker Dr Harry & Alison Zehnwirth Lynda Shields Dr Harry & Alison Zehnwirth Tracy Simpson Sale College Josephine Smith St Patricks School (Mufti Day - Lily Kerr) Clare Stuart Donations Received in Memory of Mrs Edna Kennedy Phil Taffs Donations Received in Memory of Mrs Kakko D Taylor Taylor Kaylene Trunk Debbie Webb Topical Rapamycin Donations Helen Willacy Early Childhood Intervention Program Sandra Capper Noah's Ark Centre of Shoalhaven Lions Club of Castle Hill Inc Disability Trust NSHLD

TSS is only able to help families affected by Tuberous If you, or someone you know, would like to donate to ATSS on a ASclerosis Complex through the generosity of our regular monthly basis, this facility is now available. Simply click on the donors. Your money helps families living with TSC throughout ‘Champion’ tab on the ATSS webpage and we can process your Australia and New Zealand. donation monthly. A receipt will be emailed to you. A new way to support ATSS is to become a monthly champion.

19 Calendar of events

3 November 2012 ATSS Committee Meeting, Sydney

2-4 March 2013 Tuberous Sclerosis Conference, Perth

15 May 2013 Global TSC Awareness Day

19 May 2013 ATSS National Picnic Day International Research Conference on Tuberous Sclerosis 20-23 June 2013 Complex and Related Disorders, Washington DC, USA Sponsorship oppotunities

Would your business, employer or family like to support ATSS by sponsoring an edition of Reach Out? ATSS relies on generous donations to cover costs of publishing Reach Out twice a year. To discuss sponsorship opportunities, email [email protected].