Selected resources specific to Rett syndrome
Communication and Rett syndrome
Susan Norwell (USA), a specialist on communication and Rett syndrome, conducted 2 all day forums in Brisbane in May 2016. One was for families and the other, for professionals. Copies of these presentations can be obtained directly from Equity Works via the following link
Furthering one’s understanding of Rett syndrome
Video – ‘Our Lives with Rett syndrome’
A 35 minute video which was produced in 2014, begins with Dr Helen Leonard, Principal Researcher for the Australian Rett Syndrome Study, briefly describing the current work of her team. The remaining 30 minutes of this presentation sees parents and siblings talking openly about their lives with Rett syndrome.
The video is a professional production, its content both relevant and informative, and is a valuable resource on the syndrome, particularly for a family whose young child receives a diagnosis. It can be viewed by clicking on the following link http://vimeo.com/110741678
Book – ‘Everything I’ve Never Said’
Samantha Wheeler, who lives in Brisbane, is an author of children’s books, her 6th of which was published in October 2018. Titled ‘Everything I’ve Never Said’, the central character is Ava who wants nothing more than to tell her family that she loves them, particularly her big sister Nic. But Ava has Rett syndrome – she can’t talk, nod her head or even point at a communication card. She understands everything, but no-one understands her.
When tragedy strikes her family, Ava becomes even more determined to talk. But its not until she meets occupational therapist Kieran and new friend Aimee that she is hopeful for change – and to be heard at last.
Samantha is no stranger to Rett syndrome as her daughter, Charlotte, who was 21 years old in 2018, has the disorder. Writing a book about the syndrome had been on Samantha’s mind for years and on 14 October it became official when the book was launched in Brisbane. Samantha, at the book launch, signing copies.
The book can be purchased at Dymocks bookstores or online via such internet sites as Booktopia.
Report – World Congress on Rett Syndrome – June 2012 – New Orleans, USA
In June 2012, the 7th World Congress on Rett Syndrome was held in New Orleans. Organised by the International Rett Syndrome Foundation, topics referred to in a report prepared by RSAA’s representative at the Congress, include eye gaze technology, communication, therapies, health issues, education and research. Please click on World Congress on Rett Syndrome June 2012 to view the report.
Report – European Conference on Rett Syndrome – October 2013 – Maastricht, the Netherlands
In October 2013, the 3rd European Conference on Rett Syndrome took place in Maastricht, the theme of which was “Research Update and Preventive Management”. It was the first occasion that the RSAA had been represented at a conference organised for the European Rett syndrome community. Topics referred to in a report prepared by RSAA’s representative in Maastricht include communication, research, aging, therapies, curvature of the spine and dental care. Please click on European Rett Syndrome Conference – Oct 2013 to view that report.
Report – Rett New Zealand’s bi-annual conference, Auckland 16-18 May 2014 – A summary
Topics include communication, education, orthopaedics and research. The report has been prepared by Phil Creswell who represented RSAA at the conference. Please click the following link to view 2014 RettNZ Conference Report
Videos – RSAA National Conference, Geelong, Australia 19-21 November 2015
RSAA is pleased to provide public access to all (except one) sessions presented at its national conference which took place in Geelong, Australia, in November 2015. Approval to do so has been given by the speakers and others who appear. Topics include caregiving, communication, dentistry, education, estate planning, National Disability Insurance Scheme, perspectives of adulthood in Rett syndrome, quality of life, research, scoliosis, seizures and therapies.
The conference at a glance
RSAA awards for outstanding service to Rett syndrome
The award recipients were Janelle Lillis (Australia), Kathy Hunter (USA), Peter Werchon and Bill Callaghan (both from Australia).
The Rett syndrome journey – A parent’s perspective (Kathy Hunter, USA)
Kathy Hunter founded the International Rett Syndrome Association (IRSA) in 1984 and served as its President for 23 years. During that time, she testified before the United States Congress to increase funding for Rett syndrome research which resulted in allocations of US$70 million. Her publications include ‘The Rett Syndrome Handbook’ editions 1 and 2.
Her devotion to the Rett syndrome cause is deeply inspired by her daughter Stacie, who was 41 years old at the time of this conference.
Presenters: Sally-Ann Garrett, Mary-Louise Bertram, Tracey Bode and Elizabeth Lea
Communication: Engagement & possibilities (Sally–Ann Garrett, Ireland)
Sally-Ann Garrett, is a highly specialist speech and language therapist who is now semi-retired after a career of 43 years supporting adults and children with learning disabilities and complex needs.
In 1985, after receiving information from the first North American Rett syndrome conference, the disorder became her passion, and since then, she has met and worked with hundreds of girls, women and a few boys with the condition. Sally-Ann has provided training, workshops, lectures, and presented at Rett conferences in Canada, USA, UK, Eire and Europe, as well as working closely with Rett syndrome Associations in Ontario and the UK. She no longer provides direct services but has a wealth of knowledge which she continues to share via two Facebook groups.
Additional comments from Sally-Ann on the topic of communication, follow
Advocating for communication: Getting the whole team on board and talking argumentative and alternate communication (Mary Louise Bertram, Australia)
Mary-Louise Bertram is a qualified early childhood teacher from Perth, with special qualifications and training in the areas of communication, sensory processing, and literary supports, for children with complex disabilities. She became involved with the Angelman syndrome community in 2007 while teaching a class of six children, four of whom had the condition. Since then, Mary-Louise has worked with disabled people of all ages across Western Australia and supported families across the globe to advocate for their child’s right to high quality communication and intervention. At the time of this conference, Mary-Louise was working in private practice where she practised what she preaches.
Eye gaze technology and Rett syndrome (Tracey Bode, Australia)
For the past 20 years, Tracey Bode has managed Assistive Technology businesses specialising in communication devices and systems for Alternative and Augmentative Communication (AAC). Her company, Zyteq, which was founded in 2008, supplies assistive technology throughout Australia.
In the world of AAC, communication is very personal and individual, and so while there are remarkable technological developments (one of which is eye gaze technology) each day, they are meaningless unless they can be implemented and supported for reliable, practical and individual use. This is Tracey’s mission.
Additional comments from Tracey on the topic of communication, follow
A case study: Utilising eye gaze technology for communication (Elizabeth Lea, Australia)
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.
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.
Eye gaze technology – How does it work? How to acquire such a device? – Bas Tijdhof (Australia)
Bas Tijdhof studied Human Kinetic Technology at the Hague University in The Netherlands. After leaving university, he specialised in Assistive Technology which included working with various eye gaze technologies, one of which was Tobii (and was blown away by it). Previously only usable in very few situations, Tobii went on to make a robust eye gaze system which could be used in many different situations and for many people.
In 2008, Bas emigrated with his family to Australia where he founded Link-AT. Link-AT is an Assistive Technology company, based in Adelaide. It is a supplier of communication, computer access, sensory and mounting products, with a very strong focus on the Tobii Dynavox eye gaze solutions! Tobii Dynavox is the global leader and pioneer in eye tracking augmentative and alternative (AAC) devices.
Presenters: Vivienne Byrnes, Paulina Malec, Erin Ilsley and Eva Chan, all from Glenallen School, Melbourne
Rett syndrome students – Interaction, curriculum & therapy services
When Vivienne Byrnes graduated from her primary school teacher training she worked as a classroom teacher in a mainstream school for 6 years. She then worked for a year at Allambie Special School before moving to Glen Waverley Special School (now called Glenallen School) in suburban Melbourne. Apart from 2 years at Nepean Special School, she has worked at Glenallen as a full-time classroom teacher since 1986. At the time of this conference, she was the Head of the Senior Department of the School.
Paulina Malec’s first encounter with Rett syndrome came during her Masters Degree when she completed a major assignment regarding diagnosis and presentation of, and treatment options for, the condition. She has been a speech pathologist at Glenallen School since 2014, having worked with 6 of the 8 current Rett syndrome students. She has enjoyed seeing her masters research into the disorder being translated from theory into practice, as well as getting to know and building upon the unique communication skills of each girl.
In 2012, Erin Ilsley graduated from Monash University, Melbourne, with a Bachelor of Occupational Therapy. Two years later, she joined the staff at Glenallen School as an occupational therapist, during which time she has worked with 5 Rett syndrome students. This has piqued Erin’s interest in the disorder and the capacity that occupational therapy has within this population, particularly as regards assistive technology.
Eva Chan is the senior physiotherapist at Glenallen School. Having been trained initially in Hong Kong, she began to specialise in physiotherapy for children with disabilities early in her career. She came to Melbourne in 1992 and commenced working with Rett syndrome girls at Glenallen 5 years later. Over the years, she has continued working regularly with such children and has gained insight into ways of enhancing their gross motor function through hands-on experience.
Presenters: Peter Hewish, Di Strachan, Trudy Knoll, Fiona Bell and Traci Ellmer
Estate planning options and strategies (Peter Hewish, Australia)
Peter Hewish is the Head of Estate Planning with Australian Executor Trustees (AET). He manages a national team of estate planning lawyers and practises exclusively in the area of estate planning law, including assisting families in meeting more complex estate planning requirements.
National Disability Insurance Scheme (Di Strachan & Trudy Knoll, Australia)
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.
The NDIS from a family perspective (Fiona Bell & Traci Ellmer, Australia)
Fiona’s Rett syndrome daughter, Alvira, was 11 years old at the time of this conference while Traci’s daughter, Madison, was 10 year old. Both families lived in Geelong where the NDIS head office is located and where the Scheme has been trialled since July 2013. Fiona and Traci described their families’ experiences with the Scheme.
Rett syndrome research
Presenters: Professors Helen Leonard and John Christodoulou
The contribution made by families to research outcomes in Rett syndrome (Professor Helen Leonard, Australia)
Professor Helen Leonard has qualifications in medicine and public health and is a Principal Research Fellow at the Telethon Kids Institute in Western Australia. In 1992, she established the internationally unique population-based Australian Rett Syndrome Database and has maintained this register since then. In 2002, Helen set up the International Rett Syndrome Phenotype Database, InterRett, which at the time of this conference, had collected data on over 2,000 Rett syndrome 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 8 reports. On the topic of Rett syndrome, she is one of the most highly published authors over the last decade.
An update on Rett syndrome research focussed on new therapies (Professor John Christodoulou, Australia)
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 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.
At the time of this conference, John was the Director of the Western Sydney Genetics Program, and Professor in the Disciplines of Paediatrics and Child Health and General Medicine, Sydney Medical School, University of Sydney. In April 2013, he became the Head of the Discipline of Genetic Medicine.
Additional comments from John on the topic of Rett syndrome research, follow
Presenters: Meir Lotan and Susanne Smeeton
Therapeutic intervention in Rett syndrome (Meir Lotan, Israel)
Meir Lotan is a Professor of Physical Therapy, working 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. Meir is affiliated with the Israeli National Rett Syndrome Association and has been involved with Rett syndrome individuals for the past 23 years, as a consultant, clinician and researcher.
He has published numerous articles in international peer-reviewed journals, lectured at many international conferences, as well as having written 3 books addressing care and therapy for this group of clients.
Bowen therapy and the Emmett technique (Susanne Smeeton, Australia)
Susanne Smeeton was born in Vienna and emigrated to Australia in 2010. Her clinic is located in Geelong West where she 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 practised in Geelong. The Emmett Technique is a special form of body therapy that involves the application of light finger pressure at specific points, developed by remedial therapist Ross Emmett from Townsville in Queensland.
Susanne’s major teachers have been her husband Romney, Ross Emmett, and her clients, especially Madison who has Rett syndrome.
Presenters: Dr Michael Johnson, Dr Yvonne Lai and Dr Simon Harvey
Scoliosis surgery in Rett syndrome – Before, during and after (Dr Michael Johnson, Australia)
Michael Johnson is a paediatric orthopaedic surgeon whose specialities include scoliosis and spine deformity, club-foot Ponseti treatment, developmental hip dysplasia, neuromuscular diseases, and obstetric brachial plexus injury. Michael graduated from Monash University in 1991 and completed orthopaedic training in Victoria at many of that State’s leading hospitals. He was appointed to the Royal Children’s Hospital, Melbourne, as a Consultant Surgeon in 2001. With Fellowships at the Shriners Hospital for Children in Oregon in 2001-2002 and the Hospital for Sick Children, Toronto, in 2002-2003, he was able to pursue further training in specialists paediatric orthopaedics.
Michael has teaching roles in training orthopaedic surgeons, physiotherapists and medical students, through the University of Melbourne.
Dental issues in Rett syndrome (Dr Yvonne Lai, Australia)
Yvonne Lai graduated with a bachelor of Dental Science at the University of Western Australia (WA) in 2009 and has since worked in general private practice in metropolitan and rural WA. At the time of this conference, she was doing her specialist training in paediatric dentistry at the University of WA, and was a paediatric dental registrar at Princess Margaret Children’s Hospital in Perth. Yvonne is studying for her Doctorate in Clinical Dentistry (Masters Degree) with her research focus being the dental health needs of children and adults with Rett syndrome.
Seizures in Rett syndrome (Dr Simon Harvey, Australia)
Dr Simon Harvey is Director of the Children’s Epilepsy Program in the Department of Neurology at The Royal Children’s Hospital, Melbourne. He is an honorary research fellow at the Florey Neuroscience Institutes, Murdoch Children’s Research Institute and the University of Melbourne. Simon’s clinical and research interests include childhood epilepsy, electroencephalogram (EEG), neuroimaging and epilepsy surgery, areas in which he has greater than 130 publications.
Presenters: Sue Birch, Scott Hunter, Krys Sadkowsky, Jenny Downs and Kathy Hunter
Adulthood in Rett syndrome: Up close and personal (Sue Birch and Krys Sadkowsky, both from Australia, and Scott Hunter, USA)
Unfortunately, only half of this session is available for viewing.
Sue Birch is a mother of 3 children. The oldest, Melanie, has Rett syndrome and was 34 years old at the time of this conference. Sue has been involved in the disability field since 1983 when Melanie was born. In 1991, she took a paid role with the Developmental Disability Council of Western Australia (WA), now Developmental Disability WA (DDWA), and has been with them ever since. DDWA provides systemic advocacy for people with developmental disabilities, their families and carers.
Krys Sadkowsky came to Australia with his parents, soon after the end of World War 2. In 1973, he married Mirella and they were to have 6 children, the oldest of which is Veronica who was aged 36 years at the time of this conference. Veronica has Rett syndrome. To assist understanding of her condition, Mirella studied the brain and Krys undertook studies in epidemiology and population health. He has published widely on health, cancer and causes of death. Krys, who lives in Canberra, retired in 2013 after which he became a member of a client forum of a major agency providing support for the disabled and parent carers. He has a keen focus on carer support.
Scott Hunter is the husband of Kathy Hunter (who is also a presenter) and father to 3 children. His third child, Stacie, was the first child in the USA to receive the diagnosis of Rett syndrome. She was 10 years old. At the time of this conference, she was 41. Scott taught physical education in middle school for 33 years before retiring. He and Kathy share caring for Stacie and feel blessed that she is the happiest and healthiest that she has ever been.
Quality of life in Rett syndrome (Dr Jenny Downs, Australia)
Dr Jenny Downs has a physiotherapy background and was awarded her PhD in 2003. She has been working at the Telethon Kids Institute (Perth) in the Child Disability Group since 2005, working towards improving understanding about disability in childhood and outcomes for affected children and their families.
She is investigating several rare disorders including Rett syndrome, a condition she is working to build and maintain a database for that can provide data to understand its natural history. In addition, Jenny is developing a quality of life measure for children with developmental disability including Rett syndrome.
Caring for the carer (Kathy Hunter, USA)
As was mentioned earlier, Kathy Hunter founded the International Rett Syndrome Association and is the author of ‘The Rett Syndrome Handbook’ editions 1 and 2. Kathy’s previous meetings with families in this country took place in 1999 and 2007.
Valentina (from New South Wales) whose younger sister Annelise has Rett syndrome
Margaret (also from New South Wales) with her then 46 year old Rett syndrome daughter, Louise
Eron (from Victoria) with her Rett syndrome daughter, Sarah, who is in her early 20s
Rebecca (from Western Australia) whose Rett syndrome daughter, Marley, was then aged 6 years
Mark (from Victoria) whose Rett syndrome daughter, Charlize, was then aged 4 years
Narelle (from Western Australia) whose Rett syndrome daughter, Addison, was then aged 5 years
Liz (from Victoria) with her then 22 year old Rett syndrome daughter, Alana
Jason (from Victoria) whose Rett syndrome daughter, Isabella, was then aged 13 years
YouTube Embed: No video/playlist ID has been suppliedhttps://www.youtube.com/watch?v=K0rufHEkTVg[/youtub