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In the media: 'Born with a rare genetic disease, Noah in fight for better future'

Updated: Jul 1

By Robyn Riley (Herald Sun Medical Editor), June 16, 2024. Read the full article here.


Imagine a young boy named Noah, only seven years old, living in the vibrant city of Melbourne. His world turned upside down when he was diagnosed with a rare and challenging condition known as Niemann-Pick disease type C, often likened to childhood dementia because of its profound impact on the mind and body.

Noah’s journey to diagnosis was a winding road filled with uncertainty. It began with what seemed like pneumonia, but a sharp-eyed emergency room doctor noticed something more concerning—Noah’s spleen was unusually large. This observation kicked off a six-month medical odyssey, a time fraught with anxiety for Noah’s family as they navigated through a maze of tests and consultations. The specter of cancer loomed over them until it was finally ruled out, and the true culprit, NP-C, was revealed.

“It was our last appointment before Christmas and our normal clinician was on leave. We were asking how it was all going and honestly, just kind of waiting to be told that it was all a big misunderstanding,” Mrs carpino said.

The discovery of Noah’s condition has been a rallying cry for his family and community. They’ve come together, determined to support Noah through the trials of NP-C, advocating for awareness and rallying support to help others who might one day walk a similar path. Noah’s Battle, as it’s become known, is more than a fight against a disease; it’s a testament to the resilience of a family, the dedication of medical professionals, and the power of a community’s love and support.

 

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:


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