A six-year-old girl from Sydney's south-west is the first in New South Wales to receive a trial drug for a devastating genetic condition that mainly affects young girls. Young Valentina has Rett syndrome.
The disease can lead to severe impairments, affecting nearly every aspect of the child's life, including their ability to speak, walk, eat, and even breathe easily. The Children's Hospital at Westmead in Sydney is offering young patients a chance to improve their quality of life."This is giving some hope to the girls and their families," clinical geneticist Associate Professor Carolyn Ellaway told 9News."Valentina was able to say, 'mumma', 'dadda', 'nanna', 'high-five', and then all of a sudden stopped talking," mother Paige Moreno said.
Initially doctors thought Valentina had autism, but genetic testing at age four confirmed her diagnosis.
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