Hidden Challenges in Healthcare: Analyzing Diagnostic Delays for Rare and Chronic Diseases

Fanconi Anaemia (FA) is a rare and chronic genetic disorder. FA is a multisystem disorder with extremely heterogeneous presentation, which makes the diagnosis challenging. FA predisposes to early onset cancers, progressive bone marrow failure, endocrine abnormalities, birth defects and other symptoms. Some patients however, have no symptoms for many decades, but still have the underlying condition. This research project aims to explore national diagnostic data and a small cohort of FA patients from Australia and New Zealand. This study presents a unique opportunity to delve into the intricacies of the disease within this specific geographic region. By meticulously analysing the available data, the study seeks to uncover potential clues in the diagnostic odyssey that may inform future guidelines for diagnostic testing to improve patient outcomes.

This exploratory work will lay the groundwork to generate testable hypotheses and encourage collaborations among researchers worldwide to decipher the diverse presentations of Fanconi Anaemia.

This project promises to add valuable insights to the current body of knowledge, contributing to improved patient care, genetic counselling, and possibly, paving the way for tailored therapeutic interventions in this chronic and rare disease.