Riding the TSC Wave: The 2011 ATSS Family Conference

Entertaining, Educational, Emotional, Empowering

More than 120 people, from every state and territory of Australia as well as New Zealand, gathered in Sydney in October for the 2011 Family and Medical Conference. Highlights included the high calibre of international and local speakers, the varied and comprehensive programme and the opportunities for all attendees to share experiences.

The combined conference was given the theme of the wave. For the medical programme, this expressed in the wave of progress that has been made by understanding the mTOR protein pathway. This wave impacts TSC, but also Neurofibromatosis 1, Fragile X and some cancers. Session content included understanding of the overlaps between conditions, best practices in epilepsy control and multi-disciplinary management in TSC. Clinicians also heard the latest results and plans for clinical trials in the area and world-leading research being done on the mental health and cognition aspects of TSC.

For the family meeting, the wave metaphor was liberally applied in many ways:

• The wave of research washing up useful treatments onto the shore for TSC families
• The ups and downs of day to day life with TSC
• The benefits an early warning system (regular surveillance) to warn of incoming tsunamis
• The need for a set of floaties (your support network) to help you when it feels like you might be sinking

The Saturday family programme included a panel discussion with neurologists focused on the decisions facing doctors, patients and parents in TSC. A review of the genetics of TSC was well received by both new families and those that could always do with some revision. The Parents as Case Managers workshop was very interactive and focused on goal setting. This workshop ran in parallel to the first ever stream at an ATSS even dedicated to adults mildly affected by TSC.

Sunday was a combined programme that featured an all-star lineup in the TSC world. On top of hearing from Dr David Franz on Saturday morning, Sunday saw Drs Vicky Whittemore and Petrus de Vries share their expertise. Vicky, who herself has TSC, shared the journey so far – how far our understanding of TSC has come since the discovery of the TSC genes in the 1990s. As exciting as this progress has been, the conference also heard of the aspects of TSC that we still do not understand and areas where we are hopeful for more effective treatments in the future.

Dr Petrus de Vries gave an entertaining and insightful talk on the neuropsychiatry of TSC. This aspect is often under recognized and has the potential to be the most challenging aspect of life with TSC. I thoroughly recommend that those that missed the conference take the opportunity to view the recording of this session.

The Sunday programme also featured local experts. Dr Deborah Yates, recognized as a world leader in research into lymphangioleiomyomatosis (LAM), gave a comprehensive review of management and surveillance of TSC-related pulmonary disease. Dr Sean Kennedy also reviewed the various aspects of kidney involvement in TSC. The day was capped off with a series of small group workshops. These provided participants with a chance to ask questions on the information they had heard. The workshops also provided an update on progress in the area of a topical cream treatment for angiofibromas.

One of the favourites of the conference programme was the personal stories. Four families affected by TSC shared their stories with both the medical meeting on Saturday and the combined meeting on Sunday. Many tears and much laughter were shared as we listened to the various ways TSC affected these families.

Saturday night’s conference dinner was a good chance to unwind, appreciating the views over Sydney’s iconic Bondi Beach. The celebration of 30 years of ATSS was marked by the cutting of a birthday cake and much dangerous knife-wielding by Sue Pinkerton!

It took more than a year for the ATSS committee to organise this meeting – but it was a privilege to do so. The closing remarks included copious “thank yous” to the team of people involved in making this life-changing event a reality. We would like to echo some of these messages of thanks:

• Clare Stuart, in a voluntary capacity, who was the main organizer of the family conference
• The medical team at Sydney Children’s, especially Drs David Mowat and John Lawson (ATSS Medical Advisors)
• Sue Pinkerton (ATSS President) who was a fantastic mentor and support
• Hayley Hill (ATSS Treasurer) for her tireless administrative and logistics support
• All speakers for willingly giving up their weekend time to present at the conference
• Our personal story speakers for sharing their TSC stories
• Very importantly, thanks need to go to all of the families of the above for providing the space and time to for your family member to voluntarily contribute to this event

We would also like to acknowledge our two financial sponsors. Novartis Australia and FaHCSIA’s National Disability Conference Initiative provided much needed funds, particularly to allow us to cover the majority of travel costs for interstate families. In addition, Sydney Children’s Hospital provided the venue and co-hosted the event. Murray’s bus company provided a generous discount on transport to and from the conference dinner.

The ATSS committee continues to organise these events as they are always a source of information, inspiration and support. This year’s conference was no exception – some of the comments from attendees are included with this article. The message that I took out of the conference was that every case of TSC is unique. Research is providing much needed insight into the many different aspects of TSC and revealing promising treatments. But for those living with TSC – a team approach is needed to ensure that surveillance plans are made and followed and that each person with TSC has access to the best treatment plans for them.