History of Rett syndrome in Australia
History of Rett syndrome in Australia from 1983 to the present, follows –
1983 to 1989
Rett syndrome begins to be diagnosed in Australia in late 1983. Four years later, the first organised get-together of Rett families to be held in this country, takes place in Perth.
In 1989, RSAA publishes its brochure marking the first occasion that the words ‘Rett syndrome’ and ‘Australia’ appear together in print.
First girls in Australia are diagnosed with Rett syndrome (RTT).
Dr Jean Aicardi, a French neurologist and co-author of the first article to be published in English on Rett syndrome, visits Brisbane and diagnoses several girls.
First ever meeting of Australian Rett syndrome families takes place in Perth.
Australian representation in Vienna for the 2nd World Congress on Rett Syndrome.
Rett Syndrome Association of Australia is formed in Melbourne;
Professor Vanja Holm, Professor of Paediatrics at the University of Washington in Seattle and Rett syndrome researcher, meets families in Melbourne and Adelaide.
1990 to 1999
Two Rett syndrome research centres are established, one in Perth and the other in Sydney. Australian researchers and parents travel overseas to attend conferences on the syndrome.
The Rett Syndrome Australian Research Fund is formed and is based in New South Wales.
Peter Quirk, father of Danielle who had Rett syndrome, competes in the Sydney to Melbourne ultra-marathon to raise awareness and fundraise for research. He finishes in third place.
Peter is reunited with his family immediately after finishing the ultra-marathon. Danielle is on his lap, his wife Jan is nursing Nicole, Jessie is a far left and Andrea far right.
Professor Vanja Holm (USA) meets families in Melbourne and Adelaide.
Dr Bengt Hagberg (Sweden), co-author of the first article in English on the syndrome, delivers free public lectures in Sydney and Perth.
Australian representation in Antwerp for the 3rd World Congress on Rett Syndrome;
Australian Rett Syndrome Study begins and is located in Perth.
World Congress on Rett Syndrome, Antwerp. The tallest man in the front row is Dr Andreas Rett after whom the syndrome is named. To his immediate right is Dr Bengt Hagberg and next to him is Dr Jean Aicardi
Dr Alison Kerr, a Scottish researcher and author of several articles on Rett syndrome, is guest speaker at a symposium on the disorder held in Perth.
Gillian Deane from the New Zealand Rett Syndrome Association, visits RSAA in Melbourne.
Australian representation in Gothenberg for the 4th World Congress on Rett Syndrome;
Queensland Dept of Education publishes the booklet ‘Children with Special Needs: Rett Syndrome’;
The New South Wales Centre for Rett Syndrome Research opens at The Children’s Hospital at Westmead in Sydney.
Swedish paediatrician Inge Witt-Engerstrom (now the senior consultant with the Swedish Rett Centre), meets families in Perth, Melbourne and Hobart;
Visiting therapist Lyn Weekes from the United Kingdom Rett Syndrome Association conducts physiotherapy sessions with families in Sydney;
Formation in New South Wales (NSW) of what was to become known as the Rett Syndrome Australian Research Fund;
The Country Women’s Association of NSW begins fundraising to support Rett syndrome research, an activity it is to conduct for the next 4 years.
Dr Inge Witt-Engerstrom and her husband Bengt, meet 4 year old Melbourne Rett syndrome girl Giulia Nesci, during their visit to Australia in 1997
Kathy Hunter, Founder and President of the former International Rett Syndrome Association (USA), meets Rett families in Melbourne;
Long distance swimmer Susie Maroney swims from Newcastle to Sydney, to raise awareness.
2000 to 2009
At the Baylor College of Medicine (Texas) in late 1999, it is discovered that mutations in the MECP2 gene are the main cause of Rett syndrome. The following year, screening of blood samples from persons diagnosed with the syndrome for MECP2 gene mutations, commence in Australia.
In 2001, scientists in Scotland and the United States reproduce Rett syndrome in mice.
Two international Rett syndrome internet databases are established, one in Perth and the other in Sydney, the funding for which is provided by the former International Rett Syndrome Association and its successor, the International Rett Syndrome Foundation.
Two Rett syndrome multidisciplinary management clinics are created, one in Melbourne and the other in Sydney.
Blood samples from individuals suspected of or medically diagnosed as having Rett syndrome, begin to be screened for mutations in the MECP2 gene;
Brett Aitken, father of Ashli who had Rett syndrome, wins a cycling gold medal at the Sydney Olympics and immediately sets about drawing public attention to the condition;
Gudrun Bachler, Chairperson of the Parents’ Support Group in Germany, meets families in Melbourne and rural Victoria;
Australian representation in Nagano for the 5th World Congress on Rett Syndrome;
Rett syndrome multi-disciplinary management clinics are established in Melbourne and Sydney.
Brett Aitken completes a 585 kilometre bike ride from Adelaide to Broken Hill to fundraise and foster awareness.
Australian researchers are funded by the International Rett Syndrome Association (USA) to build and then maintain two databases, namely, InterRett (data on Rett syndrome children and adults worldwide) and RettBase (a register of MECP2 gene mutations).
Hungarian Rett syndrome father, Andor Kantas, and his co-pilot Csongor Latki, fly into Sydney in their single engine plane having just completed a 10 week 20,000 kilometre flight from Hungary to raise international awareness and funding for local research.
At left: Andor Kantas (at right) a few days after landing in Sydney, is met at the Avalon International Show by RSAA President Bill Callaghan. Andor’s plane ‘Lucia’ emblazoned with the words ‘Fly4Rett’ on its fuselage, was an exhibit at the Show
ANZACRett is created on the internet to assist parents in Australia and New Zealand; to communicate with one another.
Discovery by the NSW Centre for Rett Syndrome that mutations in the CDKL5 gene cause a Rett syndrome-like condition.
Rett syndrome information sessions are conducted at The Children’s Hospital at Westmead over two days for parents and others.
Hanne Blom-Bakke from the Norwegian Rett Syndrome Association, visits RSAA in Melbourne.
A two day talkfest ‘Let’s Talk Rett Syndrome’ takes place in Sydney, guest panelist for which is Kathy Hunter, Founder and President of the former International Rett Syndrome Association and author of ‘The Rett Syndrome Handbook’.
The Circle of Silent Angels Foundation is formed in Queensland;
Australian representation in Paris for the 6th World Congress on Rett Syndrome;
Australian representation at Rett New Zealand’s conference in Wellington.
At left: Among the attendees at Rett New Zealand’s conference in Wellington were (from left to right): John Forman ((NZ Organisation for Rare Diseases), Rob Pakes and Gillian Deane (Rett NZ), John Christodoulou (NSW Centre for Rett Syndrome Research), Kathy Hunter (Founder and President of the former International Rett Syndrome Association, USA), Mark Campbell and Doug Laing (Rett NZ), and Bill Callaghan (RSAA)
A group of kayakers paddle their way from Port Welshpool in Victoria to the north eastern tip of Tasmania to raise awareness and funds for research;
Mari Kondo, a researcher from the Howard Florey Institute (now called the Florey Neuroscience Institutes) in Melbourne, publishes findings from her study on the benefits of environmental stimulation in Rett syndrome.
2010 to the present
A two day conference for Australian families takes place in Brisbane;
The work of the Rett Syndrome Australian Research Fund comes to an official end in 2011 after having donated $1.8 million to research and, from 2004 to 2009, financially supporting the Rett syndrome clinic at The Children’s Hospital, Westmead;
The Australian Rett Syndrome Study celebrates its 20th anniversary.
A third Rett Syndrome multidisciplinary management clinic is established, this time in Brisbane;
Australian representation at Rett New Zealand’s conference in Auckland;
The booklet ‘It Takes Two Girls’ is released by Heather Jennings and Jodie Brodie, both of whom live in Brisbane and have daughters with Rett syndrome.
The Rett Syndrome Australian Research Fund ceases to be having donated $1.8 million to Australian research;
Athel Hockey, a geneticist with the Disability Services Commission of Western Australia, dies. In 1987, she organised the first gathering of Rett syndrome families to be held in Australia and maintained her support for them and RSAA from then on.
A 2 day Rett syndrome family conference is held in Brisbane;
RSAA President, Bill Callaghan, is awarded an Order of Australia Medal;
Australian representation in New Orleans for the 7th World Congress on Rett Syndrome.
Australian representation in Maastricht for the 3rd European Rett Syndrome Conference;
The Australian Rett Syndrome Study celebrates its 20th anniversary.
The ‘Beyond Respite Family Forum’ for Rett syndrome families in Queensland who are participating in the
‘Respite Plus Initiative’ takes place at Maroochydore;
RSAA representation at Rett New Zealand’s bi-annual conference in Auckland;
RSAA Committee for 2014/15 consists of members who live in New South Wales, Queensland, South
Australia, Tasmania, Victoria and Western Australia. Previously, all members lived in Victoria.
RSAA’s first national conference ‘The Rett Syndrome Journey: Pathways to Follow’ takes place in Geelong;
Visit of Pam Mayo-Roman, Founder and Head of ‘Rett Syndrome Philippines’;
‘Service to Rett syndrome’ awards are presented by the Association to Kathy Hunter (USA), Janelle Lillis (New South Wales), Peter Werchon and Bill Callaghan (both Victoria).
Australian representation at Rett syndrome conferences in Kazan (World Congress), Auckland and Vienna.