top of page
  • Writer's pictureANPDF

In the media: New Hope for Children with Rare Diseases

"Game changer for kids with rare diseases" - Story by Alanah Frost, Herald Sun Images by Jay Town, Herald Sun Read the full article here.

Renee Staska's children have been diagnosed with Niemann-Pick Type C, which causes childhood dementia.
Noah Carpino at age 3, diagnosed with Niemann-Pick disease type C. (Images by Jay Town, Herald Sun)

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.

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."

Ways to support NP-C in Australia:

0 views0 comments

Recent Posts

See All


Rated 0 out of 5 stars.
No ratings yet

Add a rating
bottom of page