Meet Dr Alison Yeung, a clinical geneticist at Victorian Clinical Genetics Services and the Murdoch Children's Research Institute. With an involvement in the Melbourne Genomics ’ Complex Care project, we caught up with Alison to learn more about the project that is providing genomic sequencing to selected patients and evaluating its usefulness for medical practice.
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My husband Justin and I, like all new parents, were both anxious and excited about the impending birth of our first child. Ashton was born eight weeks early, after I went into premature labour at 29 weeks pregnant. At five days old a routine brain scan revealed he had rare brain abnormality. Everything changed for us from that day.
Parenting can be a stressful and challenging task at the best of times. From conception through to birth, getting to know your baby and navigating what’s best for your child as they grow into a young adult is a big responsibility that requires a lot of patience and perseverance. For Mary Storch, mother of a daughter with a rare genetic condition, parenting presents these same challenges - plus many more that most of us will never experience.
This September 17, our family and friends will celebrate the inaugural Kleefstra Syndrome Awareness Day. Our little girl Olivia is one of a just a few hundred people in the world who have been diagnosed with rare genetic fault which results in severe developmental delays, intellectual disabilities and physical abnormalities. To us, she is perfect.
By Louisa Di Pietro, Group Leader, Genetic Support Network Victoria Rare Disease Day is an International celebration of our community of people who are impacted by rare disease.