pushing the envelope for the sickest of children The search for answers to rare diseases often results in diagnostic delays of months and even years; time that the sickest children in neonatal or paediatric intensive care may not have. But a transformative study is changing the diagnostic landscape.
The power of genomics Vomiting uncontrollably, tiny Maelle was rushed into emergency by her parents. Tests showed that her kidneys were failing. To keep her alive doctors put her on dialysis while they planned for a transplant. To determine the reason behind her sudden kidney failure, Maelle was enrolled in the Acute Care Genomics study. The laboratory team at VCGS worked around the clock to provide a result within 72 hours. Maelle's diagnosis prompted a complete change in treatment plan. Without this, she would have become much sicker, with risk of blindness, brain damage and broken bones. But now, her treating doctor Dr Cathy Quinlan, says that "this little girl will go to kindergarten, she’ll paint pictures. “Developmentally she is like any other child – no brain damage, no blindness, healthy bones.”
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MURDOCH CHILDREN’S RESEARCH INSTITUTE