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After being diagnosed with rheumatic heart disease at ten, Elizabeth had to leave country and her family for a large chunk of her childhood so she could be treated in Adelaide.
When Liana complained of a sore foot and showed signs of a fever, her mum Margie rushed her to hospital. An X-ray of her foot revealed no obvious injury, so she was sent home and advised to take painkillers.
On 11 May 2017, over 60 attendees from throughout Australia convened in Darwin for a one-day Annual Meeting to discuss the progress of the END RHD CRE research projects, national RHD advocacy and the development of the final Endgame output.
Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.
Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics.
MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.