When a baby (typically a girl) is born with Rett syndrome, they initially appear to be perfectly healthy. For the first months, and sometimes up to the first couple of years, the baby seems to develop normally and may even start walking and talking.
Then, little by little the signs of this rare genetic disorder become more obvious. Early skills are lost and mobility deteriorates. It is devastating for parents to watch their child progressively deteriorate, fearing what may lie ahead.
There is currently no cure for Rett syndrome but we’re working on it!
Dr Helen Leonard and her team at the Telethon Kids Institute are contributing to a better understanding of how the condition progresses, how best to manage and treat the health conditions associated with it, and what supports and services are needed to improve the quality of life of girls and women with Rett syndrome and their families.
Telethon Kids Institute
Telethon Kids Institute is one of the largest, and most successful medical research institutes in Australia.
The Institute was among the first to adopt a multidisciplinary approach to major health issues: clinical research, laboratory sciences and epidemiologists all under the one roof, to tackle complex diseases impacting children and families.
With the help of the generous community, we continue to strive for answers to the big questions in childhood disease and disability and to deliver hope through life-changing research.