Conference session videos
RSAA is pleased to provide public access to each of the sessions held at its national conference which took place in Geelong, Victoria, in November 2015. Approval to do so has been given by all presenters. Please note that those sessions presented on the final afternoon of the conference, are still to be added.
THE RETT SYNDROME JOURNEY – A PARENT’S PERSPECTIVE
Kathy Hunter (USA) – My Rett Syndrome Journey
Kathy Hunter founded the International Rett Syndrome Association in 1984 and served as President for twenty three years. Other work included several years in special education; the being on the Board of Directors of the National Organization of Rare Disorders; a Congressional appointment to the National Advisory Neurological Disorder and Stroke Council; an appointment to the Leadership Council of WE MOVE; as well as serving on the Child Neurology Foundation Advocacy Committee and the Rare Diseases Clinical Research Network.
Kathy testified before the United States Congress to increase funding for research on Rett syndrome for more than two decades, which resulted in allocations of more than US$70 million. Her publications include The Rett Syndrome Handbooks I and II, and Raindrops and Sunshine. Kathy’s devotion to the Rett syndrome cause is deeply inspired by her daughter, Stacie, now 41, who lives at home and brings continuing love and joy to her family in Maryland.
Sally–Ann Garrett (Ireland) – Communication: Engagement & Possibilities
Sally-Ann Garrett is a highly specialist Speech and Language Therapist. She is now semi–retired after a career of 43 years supporting adults and children with learning disabilities and complex needs, working as a clinician and a manager of Speech and Language Therapy services in Ontario and England, and as a lecturer at Queen’s University, Ontario.
In 1985, after receiving information from the first North American Rett syndrome conference, the syndrome became her passion and purpose, and since then, she has met and worked with hundreds of girls, women, boys and men with Rett syndrome. She has provided training, workshops, lectures, presented at conferences in Canada, USA, UK, Eire, and Europe, working closely with Rett syndrome Associations in Ontario and the UK. As she is semi–retired, she no longer provides direct services but has a wealth of knowledge about Rett syndrome which she continues to share via two Facebook groups
Elizabeth Lea (Australia) – A Case Study: Utilising eye gaze technology for communication
Elizabeth Lea is a certified practicing speech pathologist. She established The Communication Toolbox, a private practice that empowers people who have complex communication needs, by delineating established and cutting edge augmentative and alternative communication options. She is passionate about everyone’s right to access a communication system.
A creative and practical problem–solver, Elizabeth is committed to developing functional communication skills. Elizabeth previously worked with the Aids and Equipment Program, Electronic Communication Devices Scheme, utilising in–depth knowledge of devices, apps and software. She conducted a pilot project investigating the provision of “unlocked” devices in Victoria, which was incorporated into the current system. Her integration of technology in practice is informed by evidence–based practice principles and she is involved with The Journal of Clinical Practice in Speech–Language Pathology as a member of the editorial committee.
Elizabeth has a special interest in eye gaze technology, due to its potential as an access method for people to independently communicate with others, on their terms.
Mary Louise Bertram (Australia) – Advocating for communication: Getting the whole team on board and talking argumentative and alternate communication
Mary–Louise Bertram is a qualified Early Childhood Teacher from Perth, with special qualifications and training in the areas of communication, sensory processing, and literacy supports, for children with complex disabilities. Mary–Louise became involved with the Angelman syndrome community in 2007 while teaching a class of six children, four of whom had the condition. Since then, she has worked with disabled people of all ages across Western Australia (WA). She has supported families across the globe to advocate for their child’s right to high–quality communication and education intervention. In 2010, she was recognized with a Western Australia Education Award for her work with children with Angelman syndrome.
Mary–Louise is known for always raising the bar about what is possible for communication and education for individuals with complex disabilities (and their families). She currently works in private practice where she practices what she preaches.
Tracey Bode (Australia) – Eye gaze technology and Rett syndrome
Tracey Bode specialised in Alternative and Augmentative Communication (AAC) in her first speech pathology position in rural Victoria and was involved in the implementation of the early Assistive Technology for AAC when it became available in Australia in the early 80’s. Her 30 plus years of experience working with children and adults in Melbourne and London in hospital, rehabilitation, special education and adult day services, has been enhanced by osmotic learning from expert teams of therapists, teachers and families.
For the past 20 years, Tracey has managed Assistive Technology businesses specialising in communication devices and systems for AAC. Her company, Zyteq, which was founded in 2008, supplies Assistive Technology throughout Australia. The “people contact” via evaluation of, training in, and support of, the equipment, allows ongoing client contact and the opportunity to keep abreast of the developments in the field.
In the world of AAC, communication is very personal and individual, and so while there are remarkable technological developments each day, they are meaningless unless they can be implemented and supported for reliable, practical and individual use. This is the mission.
Vivienne Byrnes, Eva Chan, Erin Ilsley & Paulina Malec (all from Australia) – Glenallen School (Melbourne): Rett syndrome students – Interaction, Curriculum & Therapy Services
Vivienne Byrnes has a Bachelor of Teaching and a Graduate Diploma in Special Education from Deakin University. She has a Graduate Diploma in Computer Education from Melbourne University, a Masters Degree in Educational Studies from Monash University, and a Graduate Diploma in Information Management from RMIT University. When Vivienne graduated from her Primary School Teacher training, she worked as a classroom teacher in a mainstream school for 6 years. After working for a year at Allambie Special School, she moved to Glen Waverley Special School (now called Glenallen School) in suburban Melbourne. Apart from 2 years when working at Nepean Special School, she has worked at Glenallen as a full-time classroom teacher since 1986. She is currently the Head of the Senior Department of the School.
Eva Chan is the senior physiotherapist at Glenallen School. Having been initially trained in Hong Kong, she began to specialise in physiotherapy for children with disabilities early in her career. She came to Melbourne in 1992 and continued working in special schools. Eva started working with Rett syndrome girls at Glenallen in 1997. Over the years, she has continued working with these children regularly and has gained insight into ways of enhancing their gross motor function through hands-on experience. Eva enjoys working with them and likes to follow their development through their school years. She has a Certificate in Physiotherapy from the Hong Kong Government.
Erin Ilsley graduated from Monash University, Melbourne, in 2012 with a Bachelor of Occupational Therapy. Erin has always had a keen interest in the area of disability and worked as a carer in holiday programs and in-home respite throughout her degree. After graduating, Erin worked for Eastern Health across a variety of areas, including acute wards, equipment provision and conducting home visits. She graduated from Monash University, Melbourne, in 2012 with a Bachelor of Occupational Therapy. Erin has always had a keen interest in the area of disability and worked as a carer in holiday programs and in–home respite throughout her degree. After graduating, Erin worked for Eastern Health across a variety of areas, including acute wards, equipment /provision and conducting home visits. In 2014, she joined the staff at Glenallen School as an occupational therapist, and since then, has worked with five girls with Rett syndrome. This has since piqued Erin’s interest in the disorder and the capacity occupational therapy has within this population, particularly as regards assistive technology.
Paulina Malec graduated from Monash University in 2011 with a Bachelor in Biomedical Science, before completing her Masters in Speech Pathology at The University of Melbourne in 2013. Her first encounter with Rett syndrome came during her Masters Degree, when she completed a major assignment regarding the current diagnosis, presentation and treatment options for the condition. Paulina has been a Speech Pathologist at Glenallen School since 2014 and has worked with six of the eight current students with Rett syndrome. In this time, she has enjoyed seeing her Masters research into the disorder be translated from theory into practice, as well as getting to know and build–upon the unique communicative skills of each girl.
Peter Hewish (Australia) – Estate Planning options and strategies
Peter Hewish is the Head of Estate Planning with Australian Executor Trustees (AET). He manages a national team of estate planning lawyers. Peter practices exclusively in the area of estate planning law, including assisting families in meeting more complex estate planning requirements.
He holds degrees in Arts and Law and was admitted as a lawyer in 1991. Prior to joining AET in 2006, Peter worked in private practice – including one of Sydney’s leading estate planning law firms. Early in his career, Peter also worked in the areas of property law, commercial law, family law and contested estates. Peter is a regular speaker on estate planning at professional seminars and associations.
Di Strachan & Trudy Knoll (both from Australia) – National Disability Insurance Scheme
An in depth explanation is provided on the National Disability Insurance Scheme (NDIS) presently rolling out across Australia, including information on the type of assistance offered and preparation of an application.
Fiona Bell & Traci Ellmer (both from Australia) – The NDIS from a family perspective
Fiona is the mother of 11 year old Alivia and Traci the mother of 10 year old Madison. Both children have Rett syndrome and both families live in Geelong where the NDIS head office is located and where the Scheme has been trialled since July 2013. Fiona and Traci describe their families’ experiences with the Scheme.
Dr Michael Johnson (Australia) – Scoliosis surgery in Rett syndrome – Before, during and after
Michael Johnson is a paediatric orthopaedic surgeon whose specialities include scoliosis and spine deformity, club–foot Ponseti treatment, developmental hip dysplasia, neuro–muscular diseases, and obstetric brachial plexus injury. Michael graduated from Monash University in 1991 and completed orthopaedic training in
Victoria at many of Victoria’s leading hospitals (Alfred, Royal Melbourne, Monash Medical Centre, Austin, Box Hill and Ballarat). Michael was appointed to the Royal Children’s hospital as a Consultant Surgeon in 2001.
With Fellowships at the Hospital for Sick Children, Toronto, in 2002–2003 and Shriners Hospital for Children in Oregon in 2001–2002, he was able to pursue further training in specialist paediatric orthopaedics.
Michael has teaching roles in training orthopaedic surgeons, physiotherapists and medical students through the University of Melbourne. He has served as the Secretary of the Australian Paediatric Orthopaedic Society and is currently the coordinator for the Australian Paediatric Orthopaedics Annual Instructional Course.
Michael is married with two teenage daughters. His non–medical interests include singing, cycling, sailing, skiing and Australian Football League (AFL) nines.
Dr Yvonne Lai (Australia) – Dental issues in Rett syndrome
Yvonne graduated with a Bachelor of Dental Science in 2009 at the University of Western Australia (WA), and has since worked in general private practice in metropolitan and rural WA. She is currently undertaking her specialist training in Paediatric Dentistry at the University of WA, and is a paediatric dental registrar at the main children’s hospital. Yvonne is studying her Doctorate in Clinical Dentistry (Masters Degree) and her research focus is in the dental health needs of children and adults with Rett syndrome.
She has an interest in working with children who have cancer and also with those who have special care needs. Yvonne enjoys swimming, jogging and playing the violin in her spare time, and cares for her adopted greyhound named Riley. Parents are reminded that Yvonne will be available to conduct brief oral examinations of their Rett syndrome children following the final conference presentations on Friday and Saturday.
Professor John Christodoulou (Australia) – An update on Rett syndrome research focussed on new therapies
John Christodoulou is a medical graduate of the University of Sydney, and has formal qualifications in paediatrics and medical genetics, with his main current focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism. He undertook his formal genetic training at the Murdoch Research Institute in Melbourne, and had further postdoctoral training in genetic metabolic disorders at the Hospital for Sick Children in Toronto.
He has an active laboratory–based and clinical Rett syndrome research program, as well as in genetic metabolic disorders, including phenylketonuria (PKU), the mitochondrial respiratory chain (energy production) disorders and other inborn errors of metabolism, and has a strong research interest in the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders. He is currently the Director of the Western Sydney Genetics Program, and Professor in the Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, and in April 2013, became the Head of the Discipline of Genetic Medicine.
John is a former past President (2005–2007) of the Human Genetics Society of Australasia, has served on the National Health and Medical Research Council (NHMRC) Principal Committee, and the Human Genetics Advisory Committee since 2009. In 2010, he became a Member of the General Division of the Order of Australia for service to human genetics, particularly the metabolic disorders of children, as a researcher and clinician.
Meir Lotan (Israel) – Therapeutic intervention in Rett syndrome
Meir Lotan, MSc.P.T., Ph.D. is a professor of physical therapy working as senior lecturer at the School of Health Sciences, Department of Physical Therapy, Ariel University, Israel. He has a special interest in physiotherapy and physical activity for individuals with Rett syndrome. Professor Lotan is affiliated with the Israeli National Rett Syndrome evaluation team, and has been involved with individuals with Rett syndrome for the past 23 years, as a consultant, clinician, and researcher.
In 2000, the International Rett Syndrome Association (IRSA) honoured Meir for his service to individuals with Rett syndrome, as did the International Rett Syndrome Foundation in 2014 for his research into the disorder. He has conducted numerous studies with the aim of improving the care of, and therapeutic intervention for, affected individuals. Over the years, he has published numerous articles in international peer–reviewed journals, lectured at many international conferences, as well as having written three books address–ing care and therapy for this group of clients.
Susanne Smeeton (Australia) – Bowen therapy and the Emmett technique
Susanne Smeeton was born in Vienna, Austria, in 1965. She, her husband, Romney (a chiropractor), and their 2 adult sons, immigrated to Australia in 2010. Susanne, who has been self–employed since 2007 and is currently working from her clinic in Geelong West, specialises in the delivery of Bowen Therapy and the Emmett Technique. Bowen Therapy is a holistic and multidimensional approach to pain relief and healing. Its originator, Tom Bowen, lived and practiced in Geelong. The Emmett Technique is a special form of body therapy that involves application of light finger pressure at specific points, developed by Remedial Therapist Ross Emmett from Townsville in Queensland.
The Emmett Technique can be integrated with other types of therapy (especially Bowen) to enhance their outcome. Aside from being taught Bowen Therapy and the Emmett Technique, Susanne is trained in a number of additional therapies which include among others, the Feil Method, Cantienica Pelvic Floor Training, Reiki, Emotional Freedom Technique and Foot Polarity, and she is in the process of adding Cranio–Sacral Therapy to the list. Having received her education in Austria, Germany, Switzerland and Australia, her major teachers have been her husband, Romney, Ross Emmett, and her clients, especially Madison O’Keefe (Rett syndrome) and Simone Brier (an awakening client). Susanne is also a teacher in that she conducts seminars, delivers Cantienica Training and spent 2 years teaching the Emmett Technique in both Victoria and Western Australia.
RETT SYNDROME RESEARCH – FAMILY PARTICIPATION
Professor Helen Leonard (Australia) – Role of the Rett syndrome family in the research process
Associate Professor Helen Leonard has qualifications in medicine and public health and is a Principal Research Fellow at the Telethon Kids Institute in Western Australia. For twenty years, her clinical practice involved the management of children and adults with intellectual disability and rare diseases.
During this time, the major need for epidemiological, clinical and multidisciplinary research in this area became obvious. She has therefore taken a leading role in developing a research infrastructure to study intellectual disability generally as well as specific disorders like Rett syndrome and Down syndrome. In 1992, she first established the internationally unique population–based Australian Rett Syndrome Database and has maintained this register since that time. In 2002, she set up the International Rett Syndrome Foundation Phenotype Database, InterRett, which has now collected data on over 2,000 individuals from 48 countries.
Since commencing active research in 1998, she has co–authored over 200 journal articles as well as 12 book chapters and eight reports. On the topic of Rett syndrome, she is one of the most highly published authors over the last decade. Her strong collaborative approach has been evident throughout her career. She has previously used a Delphi approach to bring together from across the globe experts from different specialties to develop guidelines for clinical management.