"Game changer for kids with rare diseases" - Story by Alanah Frost, Herald Sun Images by Jay Town, Herald Sun Read the full article here.
The Royal Children’s Hospital (RCH) Foundation has unveiled the Rare Diseases Now (RDNow) program, a groundbreaking initiative that promises to revolutionize the diagnosis and treatment process for children with rare diseases in Australia.
Quicker Diagnosis and Advanced Care: The RDNow program aims to provide patients with a diagnosis, treatment, and care within a year of presenting their symptoms. This is a significant improvement over the current situation, where diagnosis can take months or even years.
A Collaborative Effort: The program is a collaborative effort by the Murdoch Children’s Research Institute (MCRI) and involves a team of doctors, genetic counsellors, research scientists, and bioinformaticians. They will utilize new technologies and testing methods, including genomic sequencing, to expedite the diagnostic process.
The Impact of Rare Diseases: With over 6000 known rare diseases affecting children, and 75% of them having no cure, the RDNow program is a beacon of hope for the 15,000 Australian children diagnosed each year1. Tragically, almost a third of these children will not survive past their fifth birthday.
A Personal Story: The article shares the touching story of little Noah Carpino, who was diagnosed with Niemann-Pick disease, type C. This rare condition has only 30 known cases in Australia and currently has no cure. Noah’s mother, Deanna Carpino, expressed how the RDNow program could provide better access to much-needed resources for families like hers.
A Step in the Right Direction: Professor David Thorburn of MCRI highlighted that the RDNow program is a step in the right direction, offering a quicker diagnosis which could sometimes be achieved in months instead of years.
This new program represents a significant advancement in the care for children with rare diseases, and we at the Australian NPC Disease Foundation are excited about the potential it holds for improving the lives of those affected.
To help families like Noah's around Australia, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere."
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