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Discovery leads to rare diagnosis for Alice

Research News
Tuesday, June 7, 2016 - 11:45am

Alice is a joyful 13 year-old girl who is in love with life. When she was born, Alice was extremely small for a 40 week baby and was constantly sick. Her mother, Ruth, did not receive any answers as to why Alice was different and her health so poor. Many invasive and expensive tests were done to find a diagnosis for Alice but sadly, they had no luck for the first 13 years of her life.

Alice was referred to the Murdoch Children's by her paediatrician for genetic testing and thanks to the collaboration the Institute undertakes with international research groups, Alice was diagnosed with a very rare newly discovered syndrome which is yet to be named but affects many parts of the brain.

The diagnosis opened a new world of hope for Alice and her family as now the genetic mutation in Alice DNA was discovered. Ruth explains “With the diagnosis and thanks to the Murdoch Children's support, we have been in contact with another family in the UK who has a child with the same mutation as Alice’s. We have been able to share and compare many milestones and medical issues our children face. Now, I have hope for the future as their boy is 20 year-old and attending university. I am extremely grateful because I know now that Alice can be with me for decades and she can have a happy future – what else can a mother ask for?”

After diagnosis, Alice receives better medical care that improved her quality of life as her treatment is tailored to her genetic condition. Ruth and her family are relieved as they have found a benchmark for Alice’s milestones and can have come certainty that the future is brighter for Alice. Now she could also access Government support as a diagnosis has been found.

On behalf of our committed and passionate medical researchers, thank you for joining us in our quest to find a healthier future for our children and for your generous support.