Reach ut O October 2014 Issue 100
100th Issue My Story Thus Far p7
Introducing TSC New Zealand p5 Elizabeth Pinkerton Memorial Award p18
www.tsa.org.au
TSA News
Contents Editorial..................................................................................................................................................................................3 President’s Report..................................................................................................................................................................4 TSC Family Survey................................................................................................................................................................5 TSA Committee.....................................................................................................................................................................4 Introducing TSCNZ..............................................................................................................................................................5 My Story Thus Far.................................................................................................................................................................7 Preliminary Results Topical Rapamycin for Clinical Trial ..............................................................................................8 Just Between Us – Finding Your Way Online.....................................................................................................................9 A Guide To Healthy Web Surfing......................................................................................................................................12 100th Issue of Reach Out.....................................................................................................................................................13 Ann Hunt..............................................................................................................................................................................16 Manuel R Gomez Award.....................................................................................................................................................16 Sydney Seminar Day............................................................................................................................................................17 Elizabeth Pinkerton Memorial Award..............................................................................................................................18 Dr John Hulbert Speaks at Brisbane Events.....................................................................................................................18 Families Gather in Perth.....................................................................................................................................................18 TSC Global Awareness Day................................................................................................................................................19 World TSC Conference.......................................................................................................................................................19 Research News .....................................................................................................................................................................20 Fundraising..........................................................................................................................................................................21 Purchase Christmas Cards.................................................................................................................................................22 Calendar of Events...............................................................................................................................................................23 Thank You To Our Supporters...........................................................................................................................................23
Tuberous Sclerosis Australia Inc. Who are we?
Tuberous Sclerosis Australia is a voluntary organization established in 1981 to connect families affected by Tuberous Sclerosis Complex. There are hundreds of members around Australia and internationally, including families living with TSC and professionals from the medical, caring and education fields.
Our Vision:
That TSC families are empowered through access to information and support.
Our Mission:
As the only Tuberous Sclerosis organization in Australia, we: • Provide access to current information and resources; • Help TSC families build relationships and support networks; • Ensure best practice management and care for TSC affected people in Australia.
President Vice President Treasurer Secretary Committee Members
Life Members Public Officer Medical Advisory Board
Debbie Crosby Kate Norris Patrick Norris David Matheson Libby Adams Adish Chandra Hayley Hill Georgina Schilg Lynn Wilson OAM JP Andrew McKinnon JP David Matheson Dr David Mowat, Clinical Geneticist r John Lawson, D Paediatric Neurologist Dr Sean Kennedy Paediatric Nephrologist
Need more information about living with TSC?
Project Manager Clare Stuart More information about Tuberous Sclerosis Complex is available at: The TSA website: www.atss.org.au Tuberous Sclerosis Alliance, USA: www.tsalliance.org Tuberous Sclerosis Association, UK: www.tuberous-sclerosis.org Email or call us to get in touch with a volunteer in your area. TSA has Regional Contacts throughout Australia 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 info@atss.org.au
Not in Australia or New Zealand?
TSA is a founding member of Tuberous Sclerosis Complex International, a worldwide association of Tuberous Sclerosis Complex organizations. Tuberous Sclerosis Complex international, www.tscinternational.org
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October 2014 Issue 100
TSA News
Editorial David Matheson – Editor
T
he number 100 is celebrated with importance in many areas. Reaching 100 years of age is considered a special milestone and a congratulatory card from the monarch can be arranged. Scoring 100 runs in cricket is met with loud applause. Centenaries of significant events are marked and celebrated. Thus, the 100th issue of Reach Out is something worth marking as an important event. Inside this issue, the three people who have been Editor since the newsletter commenced have provided some reflections that give interesting insights into the history of Reach Out and how it has evolved over the years.
Tuberous Sclerosis Complex is not bound by geographical boundaries, culture or race. While Issue 100 provokes a time of reflection and looking back on the past, this issue is also the beginning of a new era. The Australasian Tuberous Sclerosis Society (ATSS) has changed its name to Tuberous Sclerosis Australia (TSA). From Issue 1 to Issue 99, Reach Out and its predecessors were the newsletters of ATSS, but Issue 100 is the first newsletter of TSA. Reach Out will continue to provide news and information relevant to families affected by Tuberous Sclerosis Complex,
but will change and adapt in the future as needed. It is likely that Issue 200 will be very different from Issue 100. After a brief look back and a short glimpse forwards, we return to the present. With this issue, the publication date of Reach Out has changed slightly from May and November to April and October. This schedule enables more time to advertise key events in advance. The content and focus of Reach Out will remain the same. This issue of Reach Out provides stories and information from a range of locations throughout Australia, and indeed, the world. Tuberous Sclerosis Complex is not bound by geographical boundaries, culture or race. Therefore, support groups for those living with TSC exist in many countries, and these together form the worldwide Tuberous Sclerosis Complex International. The latest member we welcome to this group is TSC New Zealand. An article on the establishment of TSC New Zealand appears in this issue of Reach Out, along with a personal story from Leah Bos, a member of the newly formed group. A feature in this issue explores the world of online information. While there is excellent and very useful information on the internet, there is also some content that can be misleading and incorrect. When exploring the web it is important to evaluate what we read carefully. Some tips, as well as experiences from TSC affected people about finding information online, are also contained in this issue. I hope you enjoy the 100th issue of Reach Out.
Reach Out Official journal of Tuberous Sclerosis Australia, Inc. 17 Linksview Road, Springwood NSW 2777 Telephone: 1300 733 435 Website: www.atsa.org.au Email: info@tsa.org.au ABN 20 681 174 734 Incorporation no. Y 07116-42 ATSS Registered Charity CC25313 Reach Out Editor: David Matheson reachout@tsa.org.au Disclaimer The opinions expressed in this journal are those of the authors and are not official pronouncements of TSA Inc. Permission Permission must be sought from the authors or publishers to reproduce in any way articles or information contained in this journal. Once permission is received the source must be acknowledged.
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TSA News
President’s Report Debbie Crosby - President
W
elcome to the 100th issue of Reach Out. What an amazing milestone and achievement in providing information to our members and families. There have been so many amazing contributions from many people who have worked on the Committee and from all of the people who shared their personal stories over the past 30 years. I would like to acknowledge my predecessor, Sue Pinkerton, who saw the importance of having a publication with the most up to date information and a place where families could turn, to gain a better understanding of TSC. And to the editor of Reach Out, David Matheson, a big thank you to all of the fantastic work you do and all of the time you give in making Reach Out what it is today. The past six months have been a time of reflection and there have been many positive changes for our organisation. Firstly, speaking with families in New Zealand, we wanted to understand how their needs for support and information could be met. The result was having their own association in New Zealand, and Tuberous Sclerosis Complex New Zealand (TSCNZ) will be launched at the 2014 TSC Family Conference in Auckland in November. This new association will bring individuals and families together in New Zealand to run their own organisation and bring more focus on improving health services and connecting clinicians. It will also allow them to receive tax deductible donations and grants from within New Zealand. We will work very closely with them and support them to ensure the families in New Zealand get the support they need.
Another major and exciting change was the undertaking to change the name of our organisation. We felt it was time to make a change that reflected who we are and what we do. The change of name was accepted at our Annual General Meeting in August and the organisation will now be called Tuberous Sclerosis Australia (TSA). This is a much simpler name and is consistent with other similar organisations. You will see the new name reflected in our publications and website from November onwards. This change is in parallel with the launch of Tuberous Sclerosis Complex New Zealand. You can read more about TSCNZ and the exciting activities in New Zealand this year from TSCNZ President, Helen. Willacy, on page 5. Our Annual General Meeting was held at our Seminar Day in Sydney in August. It was a very busy meeting this year as we also amended our constitution due to our name change and some changes that will streamline our processes. A very important part of the AGM every year is the presentation of the Elizabeth Pinkerton Memorial Award, and this year it was awarded to Dr Sean Kennedy. Dr Kennedy is a Nephrologist and the head of Renal Medicine at the Sydney Children’s Hospital, and is also a member of the TSC clinic. We believe Sean is very worthy recipient as he has been a great clinician and has supported our organisation and people with TSC. His experience and knowledge of TSC has helped many families, and I personally think we are very lucky to have him as part of the TSC clinic here in Sydney.
I would like to thank all of the volunteers on our Committee and our Regional Contacts. Firstly, Hayley Hill, who is stepping down as Treasurer and Membership Secretary. Not only does she look after the financial matters, she is always available to help in any way she can. Hayley always has a smile on her face and is positive even when she is facing many challenges caring for her own child with TSC. We are glad Hayley is remaining on the Committee and I am sure she is looking forward to putting her feet up from all of the financial paperwork. I would also like to thank Janiffer Reynolds, who is sadly stepping down from the Committee. Jannifer has been on the Committee for many years and has given up her precious time to support others. Janiffer will remain as Regional Contact in the Newcastle/ Maitland area. She has supported many families in the area and is a fantastic advocate for TSC. She has raised awareness of TSC in the medical community in the area and at John Hunter Hospital. Thank you Janiffer for all of your fantastic work. I would like to welcome some new members to our committee, Libby Adams, Adish Chandra, Georgina Schlig, and Patrick Norris, who will be our new Treasurer. It is great to have some new people join us and to see our Committee grow. I look forward to working with everyone and to see Tuberous Sclerosis Australia grow to ensure we support and empower people living with TSC.
Tuberous Sclerosis Australia Committee
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t the Annual General Meeting in August the name Australasian Tuberous Sclerosis Society Inc. was changed to Tuberous Sclerosis Australia, Inc. This change, as well as alterations to the Constitution, has been approved by NSW Fair Trading. A new Committee also took office at the AGM. The full list of those on the Committee can be found on page 2 of Reach Out. Hayley Hill stood down from the positions of Treasurer and Member-
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ship Secretary after five years, but will remain as a Committee Member. Thanks to Hayley for your tireless work. Janiffer Reynolds decided not to stand for the Committee this year. Janiffer had been a member of the Committee for 14 years and previously held the position of Membership Secretary. Thanks for your work over many years, Janiffer. Patrick Norris, Adish Chandra, Libby Adams and Georgina Schilg are wel-
comed to the TSA Committee. Patrick has taken over the position of Treasurer and brings a wealth of financial experience to this role. Adish has re-joined the Committee after several years break, while Libby and Georgina have joined the Committee for the first time. Thank you to all on the Committee for volunteering your time to assist the work of TSA. Your efforts provide great support to many families affected by TSC.
October 2014 Issue 100
TSA News
Introducing Tuberous Sclerosis Complex New Zealand Helen Willacy, President TSCNZ
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t the beginning of 2014, Clare Stuart approached the New Zealand members of ATSS to see if we were interested in helping her organize the first ever TSC family conference in New Zealand. Sheryll Brasell, Janet Sharp and I leapt at the idea. We had been lucky enough to attend the Sydney conference in 2011. I was blown away by the excellent organization and wealth of information that I gained there. My son Mac was diagnosed with TSC in 2002 and I thought I was pretty
Janet Sharp and Helen Willacy
Our future plans will be informed by the results of the TSC Family survey, and we would love to hear from more New Zealanders about what direction TSCNZ should take. knowledgeable about TSC. I was wrong! There has been so much research since then. It was great to get up to date with what was going on around the world and to use this knowledge to do the best job I could when advocating for Mac. I was keen to help other New Zealand families have this opportunity too. Our first plan was to become a more active regional branch of ATSS. However, when we investigated this, we discovered that to effectively attract funding and provide services to New Zealand families we needed to be a New Zealand legal entity. We welcomed Leah Bos and Martina Kavanagh to the team of volunteers and became an unincorporated association, Tuberous Sclerosis New Zealand (TSCNZ).
Since February TSCNZ has achieved a great deal. We have gained charitable status, registered with the Inland Revenue Department, opened a bank account, and had a logo designed. We have registered for www.givealittle. co.nz to receive online donations, and our own website is under construction. We made our first submission to Pharmac in support of Government funding for Everolimus for SEGAs, and we are running our own version of the TSC family survey to learn more about the needs of New Zealand families with TSC. TSCNZ has joined TSC International and I will be attending the 2014 International TSC-LAM Research Conference in Beijing this October. All of this before the official launch of
TSCNZ at the 2014 Family Conference in New Zealand. It has been wonderful to have Clare’s leadership with organizing the family conference to be held on 15 and 16 November in Auckland. TSCNZ will continue to work closely with Tuberous Sclerosis Australia. We are looking forward to a strategic planning session for TSCNZ at the conference. Our future plans will be informed by the results of the TSC Family survey, and we would love to hear from more New Zealanders about what direction TSCNZ should take. Of course there is always room for more volunteers, so please contact me if you would like to be involved in a committee role or any other capacity. I am excited about being part of a sustainable organization, which will provide the support, information, advocacy and opportunities for networking that I wish were around when I first heard about TSC 12 years ago. We are very thankful to Clare, David and everyone at Tuberous Sclerosis Australia for the advice and support you have given us. It has been a busy but hopeful journey so far and I look forward to the future achievements of TSCNZ. Naku te rourou nau te rourou ka ora ai te iwi With your basket and my basket the people will live.
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This year, we’re heading to Registrations are open for... New Zealand... 15th and 16th November
2014 TSC Family Conference Auckland
Limited Travel TravelGrants Grants available availablefor forNew NewZealand Zealand families families Limited Goconnected online for for more information Stay more information www.tsa.org.au/nz www.atss.org.au/nz
facebook.com/AuTSC
@AuTSC
Personal Stories
My Story Thus Far Leah Bos
H
i, my name is Leah Bos. I am 31 years-old: born on 18 September, 1982. I live in Hamilton, New Zealand. I am a TSC individual who would like to share my journey with you thus far. I am the youngest of three children and I am the only child affected with Tuberous Sclerosis. At a tender age of 15 months I had a febrile convulsion and was taken to the doctor. At the doctor’s clinic the paediatrician noticed a white cloud on my thigh. It was then that tests were done to diagnose me with TSC. I suffered quite a few seizures as a toddler; I was given medicine to stop seizures in case the grand mal seizures continued. At this stage of my life there weren’t any other noticeable physical symptoms of TSC. As I grew older these seizures had disappeared, right up until I went through puberty.
Kids did not understand and they used my condition to bully and tease me. At the age of eight the appearance of angiofibromas had started to show on my nose, cheeks and chin. Forehead plaques were apparent now. I had the shagreen patches on my trunk and hips. It was hard to explain to children my own age, let alone understand myself how to explain the condition to others. Kids did not understand and they used my condition to bully and tease me. I often got called “pimple face” and that I had “AIDS”. These childhood memories became a trauma to me and I was very vulnerable, often distant, and lacked confidence. I was well below my reading and writing level and I needed extra special care to get up to speed. During adolescence I struggled to find self esteem and to even accept who I was. I was hoping to wake up and this condition would be gone. During high school years I would often shy away from going out with friends. I had developed my own “safe place” away from the world. I often write my feelings and escape by making my own fictional stories or poetry. I have a very caring family and had a small handful of close friends. I, however, did not see what they saw in me as a beautiful person. I struggled to be my own friend, more my worst enemy. I often kept my feelings close to my chest. In high school I struggled with learning. I had concentration issues, mood swings, was very sensitive to people, and had mild depression. I was not very academic at all. I found practical tasks easier to understand and learn from than theory. Through this stage of my life I felt very alone and that no one understood what I was going through. It wasn’t until my twenties that I had a renal bleed and discovered that I had AMLs in both my kidneys. The largest
Leah and Kelly
tumour was 8 cm and many more were growing. I have been for annual check-ups at Waikato Hospital to make sure they were stable or to be embolized. It wasn’t until 2010 that I needed to find some kind of relief from the pain and sought information on the internet about Tuberous Sclerosis. I stumbled on a support group on Facebook called The Voices of Tuberous Sclerosis. It was an American group but anyone was welcome to join. There were hundreds of people just like me, some worse affected. I found myself grateful. Reading articles about their journeys and how they and their families helped each other inspired me. I gained a close bond with a woman named Kelly. She was from California. I wanted to meet her for my 30th birthday. I flew from New Zealand to America to spend some days with her. It was an overwhelming experience for us. Both of us had never met another individual with TSC. This gathering inspired another individual called Brent, who drove all the way from Utah to California to join in our celebrations. It was a day I won’t forget. I felt complete.
It was a day I won’t forget. I felt complete. I went home feeling enlightened and I knew my purpose. I wanted to help other people understand this condition and offer whatever help I could to families by talking about what experiences I went through. I posted a YouTube clip and it was a success. People were mailing me their stories. I felt fulfilled. I found ATSS and other New Zealand families. It was through ATSS that I discovered Tuberous Sclerosis Global
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Personal Stories
...My Story Thus Far
Before Sirolimus treatment
Three months into Sirolimus trial
Seven months after treatment of Sirolimus
Awareness day on 13 May. Some New Zealand families wanted to have a picnic to celebrate this to bring together children and parents so they could share their stories with others. I participated in the picnic on 19 May 2013. It was here that I met an individual who had found through his dermatologist/pharmacist a facial topical cream made with Sirolimus. I was eager to want to try it.
I was pointed in the right direction to a doctor in Tauranga. I began the trial in June 2013. The results started showing by the first three months. It had reduced the redness in the angiofibromas and there was some shrinkage in the bumps. I still have raised bumps but my appearance isn’t as bold in redness. This boasted my self esteem and I can’t believe how lucky I was. Unfortunately the cream was seen as
cosmetic rather than life threatening so it was an expensive treatment. It was well worth every cent. I am determined to keep searching and looking for further breakthroughs for this health condition. New Zealand doesn’t have a specialised clinic and I hope one day we will and have better access and information to new treatments here that are affordable.
Preliminary Results Topical Rapamycin for Clinical Trial P
reliminary results from the large randomised clinical trial into the use of a topical cream containing Rapamycin for the treatment of facial angiofibromas were recently presented. Mary Kay Keonig presented results at the World TSC Conference in Washington, USA, in July, and Dr David Mowat presented at the annual TSA Sydney Seminar Day in August. This research project builds upon the large number of case series published demonstrating the effectiveness of topical Rapamycin, including the work done in Perth by Ann Halbert and her team at Princess Margaret Hospital. The international trial had nine sites in the USA and one at Sydney
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Children’s Hospital in Australia. The trial recruited a total of 174 patients, who were randomised to receive either placebo, low dose (0.1%), or high dose (1%). These patients were followed closely for six months, including standardised independently reviewed photo documentation. Data from the first 50 subjects has been analysed. This shows a significant improvement (p=0.003) for those using the topical Rapamycin treatment compared to those on placebo. Blood tests showed no absorption into the bloodstream suggesting the treatment has a minimal risk of serious side effects. Some patients experienced burning, itching and increased acne.
Tuberous Sclerosis Australia was proud to fund the Sydney site of the trial. Thank you to the hundreds of supporters who made this research a reality. Thanks to the team at Sydney Children’s Hospital: David Mowat, Orli Wargon, Belinda Lawson and Yvonne Cheung. Lastly, recognition is made of the families that participated in the trial. TSA continues to work closely with clinicians and pharmacists towards the goal of an approved and funded treatment for facial angiofibromas. This trial contributes vital evidence to that process. You can read more about topical Rapamycin and other uses of mTOR inhibitor medicines on the Tuberous Sclerosis Australia website: www.tsa.org.au
October 2014 Issue 100
Personal Stories
Just Between Us
...Finding Your Way Online
The internet has revolutionised healthcare and provided vast amounts of health related information and opportunities to interact with people from all over the world. These changes have helped many families living with TSC and some of their stories are shared in Just Between Us this issue. In conjunction with this issue of Reach Out we have published a new resource for families on our website. It includes links to more articles on this topic, helpful websites to start looking for health information online and a new Facebook user guide. You can find this on the TSA website www.tasa.org.au
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s many may experience, finding out your child has Tuberous Sclerosis…..well it’s just daunting. Saying it is an unexpected shock is an understatement. No matter how many years pass by, that day of being told will never escape my mind. When Bella was first diagnosed at six weeks-old, the immediate reaction was to look it up – so while the graduate student was instructing me not to look it up, I did. I felt like a naughty kid in school as I typed into Google ‘Tuberous Sclerosis’. The year was 2009 and it was scary. There really weren’t too many websites available but almost five years later, the technology and information that is available has changed significantly. Social media has improved drastically now with Facebook pages linking us up with overseas channels, and it has really opened up options for us as parents and carers . There was no one-stop site that contained all the information regarding respite services, therapy services, funding services, definitions of all of the anti-seizure medications, networking services, medical interventions etc. It was a jumbled mess and I spent more time on the internet in that first year than I have in my entire life.
I felt like a naughty kid in school as I typed into Google ‘Tuberous Sclerosis’. The year was 2009 and it was scary.. The ATSS provide an informative website and those interested can join the ATSS Facebook page so families and carers can connect, discuss their personal journeys, options and personal achievements, and to just vent, which is so important. I have personally faced almost five years of TSC, and every year make peace knowing my child has this condition. From time to time, when I sometimes forget and carry on with life, TSC decides to remind me by appearing and showing its ugly side. However, for the most part, I feel blessed knowing that I have done everything possible to give Bella the best chance of living a great quality of life. Carly Davis
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Personal Stories
Just Between Us O
ur six year-old daughter Sophie was diagnosed with TSC at the age of nine months-old. We had never heard of the condition before, and so began our steep learning curve into the world of TSC. Over the years we have found the internet to be a vital resource as we stay in touch with the happenings of ATSS, read recent research publications, and engage with other TSC families via Facebook - although I am not a huge Facebook user! Hearing other families’ stories and challenges provides me with strength: knowing you are not alone, and others too, are facing similar journeys. We live in regional Australia, so we do not have access to TSC-specific clinics, and at times we feel isolated with respect to a lack of knowledge and support.
Hearing other families’ stories and challenges provides me with strength: knowing you are not alone, and others too, are facing similar journeys. Using the Internet means that I can access a range of information from a wide variety of sources when I want it, and when I have the time to do it, usually at night, when the children are asleep and I have peace and quiet! We have found the ATSS website invaluable in accessing relevant information regarding TSC, such as facial angiofibromas and the research into the use of topical Rapamycin to treat them. Through the site I was able to access the published research paper from the Australasian Journal of Dermatology to read more about this treatment and to determine if it may be of use to Sophie. It sounded worthwhile, so I pursued an appointment with a dermatologist, where we were able to discuss treatment options. Having read the research I was able to discuss this with the dermatologist and he was happy to prescribe the treatment, which has so far shown positive results. The important point I want to highlight here is that it is really helpful to collate your own information on issues relevant to you or your child’s condition, so that you can make an informed decision based upon all the facts you have and discussions with the appropriate health professionals. The ATSS website is also great for keeping up to date with relevant events such as the family conferences. So far I have been to two and would highly recommend them. They have been excellent opportunities to learn from health professionals who have a wealth of knowledge on TSC, as well as meeting other families from across Australia. Georgina Schilg
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y son Cooper was diagnosed with TSC in August 2001 at the age of five months. We spent two weeks in Sydney Children’s Hospital having every test imaginable and beginning medication for his infantile spasms. During that time we were bombarded with medical information and given a booklet from ATSS, but in all honesty I really didn’t take much of it in. I was completely overwhelmed. We left hospital and returned home to our small country town, four hours west of Sydney, where no one had even heard of TSC. I read the information provided by the hospital and tried to get my head around the diagnosis. Back then the internet was relatively new and after being sleep deprived for five months I didn’t have the mental energy to even think about using it. Luckily for me, I’m the sort of person who would rather deal with what is, rather than worry about what might be. So with that in mind we went about life dealing with issues as they arose and not worrying too much about what might happen further down the track. I first became aware of the Facebook ATSS support group page a few years ago. Until then I hadn’t really thought too much about support groups, instead relying on my small local group of friends who also have children with varying special needs. I found the group to be great for information and very helpful when you had a query. It was also great to hear that other people were experiencing similar issues to us. For the first time since Cooper was born, I could say “Yes he is doing that, but all the people with TSC seem to do it too”, which I found comforting.
Although I think it’s great that this information is available and think discussing the options is great, I also feel that lots of people are second guessing their doctors. Over the past few years I have researched a few things on the internet, like when Cooper began having dental issues, I found some information which was very helpful and I was able to share it with our dentist. I’ve found over the years that once you leave the comfort of the Sydney Children’s Hospital most health professionals aren’t familiar with the condition and all the information I can provide from research is beneficial in caring for Cooper. I have also joined an American Facebook group that is for TS mums only. In this group mums feel safe and therefore say whatever is on their minds. I haven’t contributed a huge amount in way of posts but I do enjoy reading about the kids and their experiences. My only concern about such groups is that I am seeing lots of people, mostly those with babies, becoming overly
October 2014 Issue 100
Personal Stories
...Finding Your Way Online worried about every single thing their child does. Every day there are videos of babies doing “strange” things and people are asking if we think it’s a seizure. There are also lots of discussions around medications. People ask about newly prescribed drugs, what they do, side effects, etc. Although I think it’s great that this information is available and think discussing the options is great, I also feel that lots of people are second guessing their doctors. Do I think that the internet is a good resource for information and support? Absolutely. But I have often stopped to think how different those early years would have been had I had the same technology then. I guess it would have been nice to have an online support group. Some of those very long days in hospital and sleepless nights may have been easier if I had had someone to talk to who understood what I was going through, but I also wonder if I would have become overly dependent on the opinions of others and lost contact with my own intuition and judgement. I am very thankful for all the support I get from the Australian TSC community and love being a part of the Facebook group. I believe information is a great thing so long as you remember to focus on today and not get swept up in what might happen in the future. Naomi Ringholt
The internet – a help or hindrance when diagnosed with TSC?
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y son was born in 2004 and diagnosed with TSC later the same year. It was the ‘noughties’, the age of the internet. On diagnosis, we left the children’s hospital after an hour or so spent in a room with the neurologist, geneticist and counsellor. We felt shattered. I remember the neurologist saying to us to take time to read the literature we had been given and maybe save searching the internet until we were more ready. Of course, I didn’t listen to this advice and set about trawling the world wide web for information on TSC and the answer to that question the doctors couldn’t give me: “What the outcome would be for my son in two or five years time?” His advice was right as any positives found on the internet were often drowned out by so many daunting negatives.
I’d consult Dr Google just before heading to bed only to find myself still there two hours later delving around for straws to clutch at and often head to bed crying. It’s easy to have a love/hate relationship with the internet and what it has to offer in regards to TSC. In the early days I would scour the internet, often late at night, Googling phrases about the location of tubers in the brain, what function was played by different parts of the brain, epilepsy, medications; the list was endless. I’d consult Dr Google just before heading to bed only to
find myself still there two hours later delving around for straws to clutch at and often head to bed crying. I did become a woman obsessed. But would I have preferred to have a diagnosis of TSC in the eighties or nineties, pre-internet? I don’t think so.
The ATSS Facebook group not only provided me with information but has been the connection to faces and families of people in similar situations. Knowledge is power. Knowledge about TSC is power to help our children. To be able to source information at the click of a button is power in itself. I’d search the TSC association websites in Australia and anywhere else in the world, medical journals, YouTube, anywhere that Google led me. Like all information found on the web, it’s about recognising what is a valid source of information and what may be open to interpretation. And then there was Facebook. Facebook was born the same year as my son. I wasn’t an early adopter of social networking and only came on board in recent years. Little did I know when I signed up to stay connected with distant friends that it would also be an important source of information on TSC. The ATSS Facebook group not only provided me with information but has been the connection to faces and families of people in similar situations. It has been the positive side to TSC that I was searching for in my early days of mad midnight Googling, where all I wanted to find were stories of people who had good outcomes. The Facebook posts about small and large achievements by TSC kids at school, improvements in children with changed medication, and photos of faces after treatment with the trial Sirolimus ointment, all give me hope. It is also that personal side where you can feel connected to others who are in the same situation as yourself, a link when TSC is giving you a rough ride, or perhaps it helps you realise how lucky you are in your journey through TSC. So, help or hindrance? I’m definitely glad I live in the technological age where information on TSC is a second away. Sally Dewhurst
Just Between Us: Next Issue The next issue of Reach Out will include a feature on financial issues: insurance, government assistance and planning for the future. We would welcome your comments and experiences, however short or long. You can email reachout@tsa. org.au or visit our Facebook discussion group. 11
Information
A Guide to Healthy Web Surfing W
hat should you look for when evaluating the quality of health information on websites? Here are some suggestions based on our experience. Consider the source: Use recognized authorities. Know who is responsible for the content. • Look for an “about us” page. Check to see who runs the site: is it a branch of the Federal Government, a non-profit institution, a professional organization, a health system, a commercial organization or an individual? • There is a big difference between a site that says, “I developed this site after my heart attack” and one that says, “This page on heart attack was developed by health professionals at the American Heart Association.” • Web sites should have a way to contact the organization or webmaster. If the site provides no contact information, or if you can’t easily find out who runs the site, use caution.
Focus on quality: All websites are not created equal. Does the site have an editorial board? Is the information reviewed before it is posted? • This information is often on the “about us” page, or it may be under the organization’s mission statement, or part of the annual report. • See if the board members are experts in the subject of the site. For example, a site on osteoporosis whose medical advisory board is composed of attorneys and accountants is not medically authoritative. • Look for a description of the process of selecting or approving information on the site. It is usually in the “about us” section and may be called “editorial policy” or “selection policy” or “review policy.” • Sometimes the site will have information “about our writers” or “about our authors” instead of an editorial policy. Review this section to find out who has written the information. Be a cybersceptic: Quackery abounds on the web. Does the site make health claims that seem too good to be true? Does the information use deliberately obscure, “scientific” sounding language? Does it promise quick, dramatic, miraculous results? Is this the only site making these claims? • Beware of claims that one remedy will cure a variety of illnesses, that it is a “breakthrough,” or that it relies on a “secret ingredient.” • Use caution if the site uses a sensational writing style (lots of exclamation points, for example). • A health website for consumers should use simple language, not technical jargon. • Get a second opinion. Check more than one site.
Look for the evidence: Rely on medical research, not opinion. Does the site identify the author? Does it rely on testimonials? • Look for the author of the information, either an individual or an organization. Good examples are “Written by Jane Smith, R.N.,” or “Copyright 2003, American Cancer Society.” • If there are case histories or testimonials on the website, look for contact information such as an email address or telephone number. If the testimonials are anonymous or hard to track down (“Jane from California”), use caution. Check for currency: Look for the latest information. Is the information current? • Look for dates on documents. A document on coping with the loss of a loved one doesn’t need to be current, but a document on the latest treatment of AIDS needs to be current. • Click on a few links on the site. If there are a lot of broken links, the site may not be kept up-to-date. Beware of bias: What is the purpose? Who is providing the funding? Who pays for the site? • Check to see if the site is supported by public funds, donations or by commercial advertising. • Advertisements should be labeled. They should say “Advertisement” or “From our Sponsor.” • Look at a page on the site, and see if it is clear when content is coming from a non-commercial source and when an advertiser provides it. For example, if a page about treatment of depression recommends one drug by name, see if you can tell if the company that manufactures the drug provides that information. If it does, you should consult other sources to see what they say about the same drug. Protect your privacy: Health information should be confidential. Does the site have a privacy policy and tell you what information they collect? • There should be a link saying “Privacy” or “Privacy Policy.” Read the privacy policy to see if your privacy is really being protected. For example, if the site says “We share information with companies that can provide you with useful products,” then your information isn’t private. • If there is a registration form, notice what types of questions you must answer before you can view content. If you must provide personal information (such as name, address, date of birth, gender, mother’s maiden name, credit card number) you should refer to their privacy policy to see what they can do with your information. Consult with your health professional: Patient/provider partnerships lead to the best medical decisions. Reproduced from MedlinePlus: http://www.nlm.nih.gov/medlineplus/healthywebsurfing.html
12
Reach Out
October 2014 Issue 100
Information
100th Issue of Reach Out The current issue of Reach Out is the 100th issue of the newsletter. From its inception in early 1982 there have been three Editors: Lynn Wilson, Sue Pinkerton and David Matheson. They have each provided some reflections on their experiences as Editor.
Lynn Wilson It is my pleasure to be able to reflect back to the beginning of the ATSS newsletters, which really takes me back on a journey in time. By October 1981 I had made contact with 17 families: seven from NSW, four from Victoria, two from the ACT, two from Queensland and two from Western Australia. I sent out a one page letter to those families, as well as some professionals who were interested in what was happening. The second letter to families, in January 1982, was sent after our inaugural meeting to form a support group here in Australia. The minutes of that meeting were included. It was decided by the ATSS Committee to call our newsletter Lynn’s Letter. Our first official newsletter was sent out in February 1982. There were initially 29 newsletters sent out as Lynn’s Letter. This number soon grew. From Issue 20 I decided to add a page where we wished the children a happy birthday. This page included puzzles, recipes and other ideas. The newsletters developed to eight pages, which were clipped at one corner. While preparing Issue 30 I felt that the format of the newsletter had to change. The format changed to a booklet style and the name changed to Insight; that issue was 12 pages. At the next committee meeting the name of our magazine was changed to TS Today; each issue then had 20 pages. I chose a different colour for the cover every year. The children’s page was always included as a loose page, folded and inserted in the centre of each issue. I sourced articles from wherever I could get them, always getting permission to use the article if that was necessary. The newsletters always included personal experiences from our families, news from overseas, poems and other bits and pieces. I prepared our newsletter for 14 years, 55 newsletters and magazines in all. When it came to collating and wrapping the newsletters for postage, I greatly appreciated the help I received.
ATSS Newsletter December 1995
The newsletters always included personal experiences from our families, news from overseas, poems and other bits and pieces. In the second part of 1995 I received a telephone call from Danny Casey, the Manager of Arkosun, about them publishing our magazine. The committee agreed to their proposal. By the time Arkosun took over our magazine I was sending out well over 500 copies. With Arkosun taking over the publishing, I handed over the editing reins to Sue Pinkerton. Our newsletter had yet
another name change, becoming Reach Out with Issue 56 in March 1996. The experience of preparing a newsletter was something I had never done before; I truly had ‘on the job training’. Writing this has certainly brought back many lovely memories of the many wonderful people I have met through Tuberous Sclerosis, an experience I would not change for the world.
13
Information
100th Issue of Reach Out Sue Pinkerton I edited the ATSS journal from the 56th issue (Autumn 1996) through to the 69th issue (June 1999) when four issues were published each year. For those who might remember they were the years of the red covered booklets with photos of TSC affected families on the cover. It was a crazy time of intense busyness. We had a small room in our house that became the TS space with the phone/fax machine (in those days the machines were huge), a computer which I was learning to use, filing cabinets and boxes; and the internet was brand new!! I remember that I spent a lot of time on the phone taking calls from families, arranging the content of each issue of the journal with the publishers, and writing articles for each issue. In those days ATSS was involved with a company who approached businesses that paid for advertisements, which paid for the production and postage of Reach Out. This sounded like a good proposition at the time but it proved to be an unsuitable arrangement and since then Reach Out has not contained advertisements. Obtaining content was a consistent challenge. I relied on the goodwill of other organisations for articles and wrote a number myself. I challenged families to share their stories and I was very grateful that so many did. There were stories from grandparents, siblings, parents and TSC affected people who wrote of their experiences. They were, and continue to be, the most popular and highly regarded articles. It was the days before widespread internet. Thanks to Terry Doyle, ATSS did have a website but few people had access to it. Reach Out was the only means of communicating: international news, providing information on new anticonvulsant medications, advising of ATSS events, such as the Family Conferences held at North Rocks, and fundraising efforts. People were hungry for information. During this time the TSC genes on chromosomes 16 (TSC2) and 9 (TSC1) were identified. From its inception ATSS had established strong links with TSA United Kingdom and I was grateful for the support they pro-
14
Reach Out
Reach Out December 1998
vided in allowing ATSS to publish their fact sheets and other relevant articles. The autism and epilepsy organisations were also very kind in granting permission to publish relevant material. My memories of the details of the time I edited Reach Out are poor. They were mad days. While heavily involved in ATSS as President and editor of Reach Out, I also had five children to look after, including our very dependent Lizzie, who required one to one care.
At the same time I worked full-time as a teacher of the deaf. However, others shared my passion. It was the friendship, encouragement and support of the ATSS Committee, especially Belinda Humphrey, the ATSS Treasurer for many years, as we worked together to continue building ATSS on firm foundations, which ensured its survival. I do remember the relief and gratitude I felt when David Matheson volunteered to take on the job of Editor of Reach Out.
October 2014 Issue 100
Information
100th Issue of Reach Out
Reach Out Winter 2000
Reach Out November 2006
David Matheson I took over as Editor of Reach Out in 1999. Prior to that time it had been published quarterly, but the ATSS Committee decided to change its schedule to two issues per year. It has continued to be published twice a year since then. There have been numerous changes in Reach Out during the time I have been Editor, including several changes of publishers due to changing circumstances. In 1999 the layout, design and printing was done by Arkosun, but from 2000 this work was carried out by Drawquick, who worked with ATSS for six years. From November 2006 Reach Out was designed and printed by Worldwide Online Printing, an arrangement that continued for another five years, until the current designers, Magazines byDesign, took over with the May 2012 issue. When I started as Editor I would visit the designers or post them material for Reach Out. They would type and complete the layout, then post me a printed proof copy to make any changes. I made the changes by hand on the copy and posted it back. The changes would be made by the designers and an updated proof would then be sent to me. After all changes had been made and checked, I would approve the final proof copy for printing. Today I supply all of the content for Reach Out to the designers in digital format, which I email to them. Proofs are emailed to me to note any changes required. Others are involved in proofreading and recommending changes. It is a very different process today than it was in 1999.
The appearance of Reach Out has undergone several changes. Different designers have contributed their own ideas to the overall layout and format. When I first began editing Reach Out, the newsletter was in black and white throughout, except for a red and blue cover. Today colour images and design have become standard.
The appearance of Reach Out has undergone several changes. The content of Reach Out has also changed in the last 15 years. In 1999 much more of the published material included factual information about TSC and its treatment. Today people seeking this information can easily find most of it on the internet. Reach Out now focuses more on content provided from local sources that is not readily available online. Personal stories remain an important feature, as well as news about current events, and information about the latest research. As always, contributions from readers of Reach Out are welcome. Without this input, the newsletter could not continue to provide important and interesting information. I hope that all readers continue to find Reach Out of value in the future.
15
Information
Ann Hunt I
t is with great sadness that we heard of the passing of Ann Hunt, MBE, who died at age 75 on 25 June. Ann came into the world of TSC when her youngest son, James, born in 1971, was diagnosed with TSC. At the time, very little was known about the disorder and almost nothing was known about the learning and behavioural issues associated with TSC. In 1977 Ann co-founded the Tuberous Sclerosis Association (TSA) in the United Kingdom, driven by her passion to find ways to meet her son’s needs, and to increase support and understanding for others. Not only did Ann carry out and facilitate research, she also supported hundreds of TSC families through telephone and direct contact. Ann was a generous
mentor to young researchers in TSC and a great support to all those around her. Through direct involvement of Ann and the TSA, the European TSC consortium identified the TSC2 gene in 1993. Ann organised three international research conferences in the UK, she chaired the Behaviour Panel at the 1998 Annapolis meeting, and co-organised two cognition and behaviour meetings, one in Cambridge (1999) and one in Cincinnati (2001). She was also the main driver behind the meeting of the International Behaviour Consensus Panel that led to the consensus clinical guidelines for the assessment of cognitive and behavioural problems in TSC, published in 2005. Ann retired from the TSA in 2006 and her lifelong passion, energy and drive has
had a profound impact on the international path towards finding a cure for TSC. There is also no doubt that, directly and indirectly, she has made an enormous contribution to improve the lives of all those affected. Article adapted with permission from Tuberous Sclerosis Association.
Manuel R Gomez Award W
e congratulate Professor Petrus de Vries on receiving the Manuel R Gomez Award at the World TSC Conference in Washington DC, USA, in July 2014. The award, in memory of Manuel R Gomez, who pioneered systematic TSC research in the 20th Century, is given annually, “For extraordinary scientific and humanitarian efforts to find a cure for TSC while improving the lives of those affected”. Professor de Vries has been involved in research into TSC and its treatment, and helping those affected by TSC, since 1997. “This was a wonderful surprise!” said Professor de Vries. “It was made particularly poignant by the fact that in the same week I received the award one of my great mentors, Ann Hunt, who started systematic research into the neuropsychiatric aspects of TSC in the 1980s, and was herself a previous recipient, passed away.” Professor de Vries dedicated his award to the memory and inspiration of Ann Hunt. Petrus also gives generously of his time to people living with TSC, including speaking at conferences in 2011 in Sydney and 2013 in Perth. You can watch a video of his engaging and insightful talk at the 2013 Perth Conference at: http://bit. ly/1xhVTSX Vicky Wittemore and Petrus de Vries
16
Reach Out
October 2014 Issue 100
Events
Sydney Seminar Day 17th August 2014 Kate Norris & Steve Walker
O
ur first ATSS Seminar day was in 2009 and it felt so daunting because we didn’t know what the future held for our then nine month-old boy with TSC. But each year we return to face the music. The music still isn’t always sweet to hear, but it really has been an amazing few years of change in the world of TSC research and treatment. There are many ways to get good information these days about TSC, but hearing it from experts in a face to face way has always suited us. So with two kids in tow we trundled over to Sydney Children’s Hospital on a cold and wet Sunday morning. Taking turns with the kids, we were able to see our preferred lectures. First was Sean Kennedy, a paediatric nephrologist with an interest in TSC-related kidney disease, and a member of the Sydney TSC Clinic. His work was recognised by ATSS with the 2014 Elizabeth Pinkerton Memorial Award. Sean’s talk discussed medical vs surgical management of Amyloid Myolipomas (AMLs) with some take home messages being that: • It is now recommended to have an MRI every 1-3 years to assess AML size (because larger AMLs have an increased chance of bleeding); • If an AML is greater than three cm to consider an mTOR inhibitor medication; • It is preferable to avoid kidney removal; • If the AML requires embolisation it is suggested a course of corticosteroids be given afterwards. Next was a colleague of Dr Kennedy’s and a founding member of the Sydney TSC Clinic, Dr David Mowat. Dr Mowat is a Clinical Geneticist who plays a key role in the coordination of the Clinic, working alongside the medical specialties of neurology, nephrology, dermatology and psychology. He discussed a number of developments in TSC research including the clinical trial into Topical Rapamycin for the treatment of facial angiofibromas. It is exciting to hear about trials that work, to see them develop, and know that Australia is involved through generous donations to ATSS. These trials will hopefully benefit many in the future. A pleasant lunch followed, with our sons performing to nobody in particular, and led into the Annual General Meeting and final session of the day. This year’s Committee was elected, and a decision taken to adopt the name of Tuberous Sclerosis Australia, reflecting that Tuberous Sclerosis Complex New Zealand is now established. Clare Stuart then reported on results of the first TSC Family Survey conducted earlier in 2014.
17
Events
Elizabeth Pinkerton Memorial Award A
t the Seminar Day in Sydney in August, the annual Elizabeth Pinkerton Memorial Award was presented to Dr Sean Kennedy. Dr Sean Kennedy is a paediatric nephrologist at Sydney Children’s Hospital, Randwick, and Senior Lecturer at the University of New South Wales, where he is an active researcher and teacher. His PhD investigated the role of inflammation in acute kidney disease. Dr Kennedy is experienced in all facets of renal medicine including the management and investigation of urinary tract infection, hydronephrosis, kidney impairment,
electrolyte disturbances, haematuria and proteinuria. He has a special interest in the management of children with high blood pressure. He sees patients with kidney disease across the whole spectrum of paediatrics, from babies to adolescents. Dr Kennedy is a member of the TSC clinic at Sydney Children’s Hospital, where he has worked with numerous families with Tuberous Sclerosis Complex. He has provided support and is an advisor to ATSS. Dr Kennedy’s research interests include acute kidney injury in children; optimising outcomes in adolescents and young adults with kidney disease; renal
Dr Sean Kennedy with Sue and Ross Pinkerton
manifestations of Tuberous Sclerosis Complex; and improving clinical management of congenital anomalies of the kidney and urinary tract. Dr Sean Kennedy is congratulated as the recipient of the 2014 Elizabeth Pinkerton Memorial Award. He was presented with the award by the parents of Elizabeth Pinkerton, Sue and Ross Pinkerton.
Dr John Hulbert Speaks at Brisbane Events for Families and Health Professionals T here seems to be an extraordinary generosity of spirit in the doctors that take an interest in Tuberous Sclerosis Complex. Dr John Hulbert, urologist from Minnesota, USA, is no exception. Travelling to Brisbane on a personal holiday, he volunteered his time to speak about his experiences of TSC as a clinician, researcher and father of an adult son with TSC. John spoke at two meetings with Brisbane clinicians in late August. Attended by nephrologists, neurologists and urologists from major Brisbane hospitals, John’s talks and the related discussions were a great way to foster
Dr John Hulbert and Clare Stuart
interest in TSC and share knowledge between the USA and Australia. Thank you to Drs Nikky Isbel and Simon Wood
from Princess Alexandra Hospital for organising these meetings. Families gathered on 30 August to hear from John and to share their own experiences of living with TSC. John’s talk included up to date information on TSC surveillance, management and treatment. Plenty of time for questions and discussion of care for people with TSC in Queensland was included in the event. Feedback from one attendee: “The event was very informative and I learnt a lot regarding the kidneys. It was lovely to meet other people knowing and understanding what you are going through.”
Families Gather in Perth for Global Awareness Day
S
everal families affected by TSC in Perth attended an event at Princess Margaret Hospital followed by dinner. Dr Lakshmi Nagarajan, paediatric neurologist, spoke at the event. Lakshmi gave an overview of TSC, an update on the clinical trial research being done at Princess Margaret Hospital, and answered questions about genetics, neurology and transition to adult care. Feedback from a teacher who attended the event: “I was lost in the technical jargon, absorbed
by the individual families and their hurdles, and humbled by their supportive attitudes. Finding out how TSC affects individuals, their families and the enormous appointments diary they keep, has increased my understanding of the variety of layers I need to consider as a teacher when trying to assist families in this position.” Natalie, Pingelly, Western Australia Thank you to Nicole Stone and Sue Wiliamson for organising such a great event. Nicole Stone and Dr Lakshmi Nagarajan
18
Reach Out
October 2014 Issue 100
Events
TSC Global Awareness Day
Picnic in Sydney
T
SC Global Awareness Day occurs each year on 15 May. The theme for this year was ‘A World of Thanks’. An online web page offered people with TSC the opportunity to honour someone who has made a positive difference in their life. The person could be a parent, caregiver, brother, sister, health professional, or anyone they wanted to thank. Participants in this activity submitted a picture of the person they wanted to thank, along with their location and a short description. Images then
Liam Walker and Kate Norris
appeared in an online gallery, which can be viewed at the following website: www.tscglobalday.org/gallery.aspx Liam’s map of Australia Also in conjunction with TSC Global Awareshowing the picnic locations ness Day, picnics were held in several locations around Australia and an information evening was held in Perth. Picnics are valued by participants as a way of meeting other TSC families in a relaxed atmosphere.
World TSC Conference C
lare Stuart represented Australia and New Zealand at the TS Alliance (USA) World TSC Conference held in July in Washington, DC. Several clinicians from around Australia also attended the meeting. The information presented will help us to revise our TSC information pages and inform our work to ensure people with TSC in Australia and New Zealand have access to the best
management and care. The strengthened network of contacts in Tuberous Sclerosis International allows us to be involved in worldwide awareness, research and advocacy projects. TS Alliance has published the video conference sessions. You can view these at: www.tsalliance.org/ConferenceVideos
Australian representatives Dr Vanessa Sarkozy, Clare Stuart (with Julian Stuart), Dr Kate Riney and Dr Eleanor Sum at the conference dinner
19
Research
Research News Clare Stuart Australian TSC Survey Update Thank you to the 88 respondents to our recent survey. Preliminary survey results were presented by Clare Stuart at the Sydney Seminar Day in August. A detailed report will be published on our website shortly. Congratulations to the two winners of our movie prize draw, one from South Australia and one from New South Wales. We hope you enjoy a well-deserved night out. We value the information, feedback and stories you shared with us. The survey results will be a key input into the new Tuberous Sclerosis Australia Strategic Plan to be formulated in 2015.
Evidence that exposure to the sun causes facial angiofibromas. In an article published in Human Molecular Genetics, Advance Access December 18, 2013, a team of researchers showed UV radiation in sunlight contributes to the development of facial angiofibromas in TSC. This observation suggests that measures recommended to the general public to minimize UV exposure may be even more important for those with TSC. These measures include: 1) seeking shade, particularly between 10 a.m. and 2 p.m.; 2) wearing clothing that blocks sunlight including a broad-rim hat; 3) applying generous amounts of a broad-spectrum, water resistant sunscreen with SPF 30 or greater to sun-exposed areas; and 4) not using tanning beds. Magdalena E. Tyburczy, Ji-an Wang, Shaowei Li, Rajesh Thangapazham, Yvonne Chekaluk, Joel Moss, David J. Kwiatkowski, and Thomas N. Darling. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex Hum. Mol. Genet. (2014) 23 (8): 2023-2029 first published online November 23, 2013 doi:10.1093/hmg/ddt597
Understanding the development of Autism Spectrum Disorder in infants with TSC Children with Tuberous Sclerosis Complex (TSC) are at high risk of developing Autism Spectrum Disorder (ASD). It is estimated that 25% to 60% of people with TSC will have ASD, compared to 1% to 2% of the general population. This research, published in July, aimed to identify early predictors of ASD in infants with TSC by closely following their development, and that of a control group, during infancy. The study found links with epilepsy (earlier onset of seizures and more severe epilepsy), developmental delays and reduced non-verbal ability and ASD in TSC. Although this was a small study of only 40 infants with TSC, findings may lead to earlier screening of infants with TSC, particularly those with epilepsy. This may lead to more targeted tests and early interventions to improve outcomes. You can read a more comprehensive summary of this research at: www.tsalliance.org/pages. aspx?content=741
TSC Consensus Conference publications continue. The statements from the dermatological and dental subcommittee at the 2012 International Tuberous Sclerosis Complex Clinical Consensus Conference have been published. The article describes the skin and dental findings that form part of the diagnostic criteria for TSC and the recommendations for surveillance and treatment. These include that skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options include surgical excision, laser(s), or use of an mTOR inhibitor. Teng JC, Cowen EW, Wataya-Kaneda M, et al. Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements. JAMA Dermatol. Published online July 16, 2014. doi:10.1001/jamadermatol.2014.938. You can read the full article online: bit.ly/1naAYer
20
Reach Out
October 2014 Issue 100
Fundraising
Fundraising
R
property services pty ltd australia
Thank you to these sponsors of the TSC Heroes team.
T
he TSC Heroes team have been working hard in the lead up to the Challenge Forster Triathlon on 9 November. They’ve been swimming, running, cycling and most importantly, raising money! At the time of writing the team’s total stood at $20,000. This includes $9,500 from three corporate sponsors: • $5,000 Gold Sponsor: Southern Cross Group Services • $3,000 Silver Sponsor: Ezko Property Services • $1,500 Bronze Sponsor: Z & E Kowalik Family Trust We’d love to hear from any TSC families that want to attend the triathlon as a spectator. Contact us to arrange your supporter t-shirts to cheer the team on. Thanks also to the father and son musical team of Elliott and Lachie (pictured) Cunnew who raised a few hundred dollars at a recent café gig on Sydney’s Northern Beaches. We wish the 21 TSC Hero team members well in their final training and fundraising efforts and look forward to sharing all
the details with you in the April 2015 issue of Reach Out. Thank you to Natasha Kourea, aunt of Alana Crosby, who raised $850 by asking for donations in place of presents at her recent birthday party. Thank you to Tash and her family and friends for their generosity. Congratulations to Clare Stuart and the Pinkerton family for a very successful inaugural Lizzie’s Lunch. The event was held in honour of the late Elizabeth Pinkerton. More than $5,000 was raised that will go directly to our work supporting other families with TSC. An article in the local Inner West Courier in Sydney about the event also raised public awareness of Tuberous Sclerosis. Thank you to all the volunteers, guests and supporting businesses that made this event a success. Plans for the 2015 Lizzie’s Lunch are underway. You can find out more about fundraising for Tuberous Sclerosis Australia at: www.tsa.org.au
Lachie playing guitar
TSC Heroes triathlon team
Lizzies Lunch
21
Fundraising Date of Delivery:
Date of Delivery:
Date :
Client Signature:
Date :
Client Signature:
Purchase Christmas Cards to Help Families Living with TSC Print Name:
PROOF AS IS
Total Qty:
Company Name & Branch:
PROOF WITH ALTERS AS
500
Flat / scored:
PROOF WITH ALTERS AS
PROOF AS IS
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PLEASE NOTE: FMDA will not accept responsibility for artwork errors once written approval has been
#2147 Merry Christmas
francis maurice design
500
PLEASE NOTE: FMDA will not accept responsibility for artwork errors once written approval has been
#2337 Decorative Stars
francis maurice design
CMYK_front_1
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CHECK PROOFS THOROUGHLY and fax it back to us on 03 9489 1699.
CHECK PROOFS THOROUGHLY and fax it back to us on 03 9489 1699.
This paper is from certified and sustainable managed forests. Designed & Produced in Australia by Francis Maurice Design www.francismauricecharitycards.com #2337 Copyright © 2014. All Rights Reserved.
This paper is from certified and sustainable managed forests. Designed & Produced in Australia by Francis Maurice Design www.francismauricecharitycards.com #2147 Copyright © 2013-2014. All Rights Reserved.
www.tsa.org.au
www.tsa.org.au
Tuberous Sclerosis Australia empowers people affected by TSC through access to best practice care, up to date information and support.
through access to best practice care, up to date information and support. Tuberous Sclerosis Australia empowers people affected by TSC
There is no known cure for TSC.
TSC can cause epilepsy, developmental delay and autism. There is no known cure for TSC.
commonly affecting the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy, developmental delay and autism.
T
50% of the proceeds from card sales will support our work; the other half is the wholesale cost of the card To order cards, fill in the order form that was enclosed with your copy of Reach Out. Alternatively, go to www.tsa.org.au/ cards to place your order.
his year you will be able to buy Christmas Cards from Tuberous Sclerosis Australia. Each $9.95 pack contains ten cards, two of each design shown here, and white envelopes. A short message on the back of the card explains Tuberous Sclerosis Complex and the work of Tuberous Sclerosis Australia.
commonly affecting the brain, skin, heart, lungs and kidneys.
the impact of the disease. TSC tumours can grow in any organ of the body,
in Australia and thousands more carers, families and friends who live with the impact of the disease. TSC tumours can grow in any organ of the body,
in Australia and thousands more carers, families and friends who live with Tuberous Sclerosis Complex (TSC) affects more than 2000 individuals
Tuberous Sclerosis Complex (TSC) affects more than 2000 individuals
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