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Sydney Girl Tested With New Drug for Devastating Disease
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Sydney girl tested with new drug for devastating disease [9news.com.au]:
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.It is a rare condition that strikes families out of the blue."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."Finding out she had Rett syndrome was probably one of the most devastating times of my life, it just has a terrible prognosis," Ms Moreno said.The condition is caused by mutations in the MECP2 gene, which is located on the X chromosome. It almost exclusively affects young girls.Now Anavex, a drug used to promising effect in treating Alzheimer's patients, is being tested on girls with Rett syndrome.The trial is taking place in Sydney and Brisbane, and it is recruiting dozens of patients aged five to 18.Similar trials elsewhere are being carried out on adult patients."Valentina is a beautiful soul, she loves life, she loves food, she loves people," Ms Moreno said."She's just a joy to be around, and to give her a chance of a normal future would mean the world to us.""She's just a joy to be around, and to give her a chance of a normal future would mean the world to us."Continue readingCONTACT USSend your photos, videos and stories to 9News contact@9news.com.au [mailto] Auto news: Electric Mustang ute rendered: What if Ford turned out a Mach-E pick-up? - caradvice.com.au [adnxs.com]
