Missing Thousands

National HFI Diagnosis Drive

A National HFI Diagnosis Drive to Identify Undiagnosed Australians Living with Hereditary Fructose Intolerance

Most are currently undiagnosed

Up to 1,300 Australians are estimated to have HFI. Most don't know it. They are living with unexplained symptoms, following dietary advice that is actively harming them, and never getting the answer that would change everything. This project goes looking for them.

~1,300

Estimated Australians with HFI

OUR MISSION

Reach every undiagnosed Australian with HFI — through awareness, accessible testing pathways, and a national patient registry — before more damage is done.

THE UNDIAGNOSED

Could You Have HFI and Not Know It?

Many adults with undiagnosed HFI have developed a strong, instinctive aversion to sweet foods — they just don't know why. They avoid fruit, feel sick after certain meals, and have been told for years they have IBS, fructose malabsorption, unexplained liver problems, or just a "sensitive stomach." Some have never had a single dental cavity in their life.

These are not coincidences. They are HFI.

Fruit

ASK YOURSELF

Do any of these sound familiar?

  • Nausea, vomiting, or pain after eating fruit, sweet foods, or honey
  • A lifelong aversion to sweet foods or fruit — with no clear reason
  • Chronic fatigue, brain fog, or hypoglycaemic episodes
  • Unexplained liver enzyme abnormalities on blood tests
  • A complete absence of dental cavities throughout your life
  • Symptoms that improve dramatically when you stop eating fructose

A simple ALDOB genetic test — available through standard Australian pathology — can confirm or rule out HFI.

THE DENTAL CLUE MOST CLINICIANS MISS

People with HFI instinctively avoid the sugars that cause tooth decay — meaning many go their entire lives without a single cavity. This is a well-documented feature of HFI that is almost never recognised by dentists or GPs as a diagnostic indicator. As part of this project, we are working with dental professional associations to change that.

The barrier to diagnosis is not testing — ALDOB genetic testing is already available and affordable through standard Australian pathology providers. The barrier is awareness: people don't know to ask, and clinicians don't know to look. This project fixes both.

dental-clue

HOW WE'RE FINDING PEOPLE

Three Channels. One Goal.

1

Community Awareness Campaign

A targeted national campaign using digital, social media, community radio, and print to reach people who may have HFI but have never heard of it — prompting self-identification through symptom recognition.

  • Targeted digital and social media campaign using symptom-based prompts
  • Online symptom screening tool at hfisupport.org.au
  • Dental professional association engagement on the cavity-free indicator
  • Media outreach — press releases, podcast appearances, community radio
  • Materials in multiple languages for CALD communities

2

Clinical Referral Pathway

A simple, clear guide for patients and GPs on how to access ALDOB genetic testing — removing the navigation barrier that stops people who suspect they have HFI from actually getting tested.

  • 'How to Get Tested for HFI' guide — co-developed with a GP clinical adviser
  • Warm referral pathway through partner metabolic clinics
  • GP brief focused specifically on ordering HFI genetic testing
  • Promotion of pathology providers offering home-collection kits
  • Distributed through PHN networks nationally

3

National Patient Registry

Australia's first national HFI patient registry — an opt-in database capturing prevalence data, symptom profiles, diagnostic journeys, and quality of life outcomes.

  • First-of-its-kind Australian HFI registry — built to international standards
  • Captures time-to-diagnosis, symptom history, and outcomes data
  • De-identified, privacy-compliant, fully opt-in
  • Will underpin the newborn screening submission and future policy advocacy
  • Hosted permanently at hfisupport.org.au beyond the grant period

A LANDMARK ACHIEVEMENT

Australia's First National HFI Patient Registry

WHY IT MATTERS

Right now, Australia has no reliable data on how many people have HFI, how long they waited for a diagnosis, what symptoms they experienced, or what outcomes they achieved after treatment. The registry changes that — permanently.

HEALTH EQUITY

Reaching Those Left Behind

The HFI diagnosis gap is not random. It falls hardest on the people who already face the greatest barriers to healthcare. This project specifically designs for those populations.

  • Rural and Remote Communities

    Campaign promotes home-collection genetic testing kits and telehealth-accessible genetic counselling — removing the need for metropolitan specialist visits.

  • CALD Communities

    Campaign materials developed in multiple languages, distributed through CALD community health networks. HFI symptoms can be mistaken for dietary cultural practices.

  • Aboriginal and Torres Strait Islander Peoples

    Campaign materials co-designed with Aboriginal Community Controlled Health Organisations to ensure cultural safety, trusted language, and accessible pathways.

  • People Experiencing Disadvantage

    All resources free to access. Referral guide identifies low-cost or bulk-billed testing pathways. No financial barrier to self-identification or testing.

ONE OF THREE PROJECTS

Part of a Comprehensive Strategy

This project doesn't stand alone. It is the third part of HFI Support Australia's coordinated national response to HFI under-diagnosis — three projects addressing three distinct gaps, each reinforcing the others.

Project 1

Newborn Screening
Advocates for HFI to be added to the national heel-prick test — the long-term systemic solution so future babies are never born into uncertainty.

Project 2

Education Campaign
Trains GPs, paediatricians, and dieticians to recognise HFI — building the clinical knowledge that enables earlier diagnosis for years to come.

Project 3

Diagnosis Drive
This project. Finds the people already alive who have HFI and don't know it — acting now, for those who won't be reached by screening or future clinical training.

The registry data generated by this project will directly strengthen the evidence base for the newborn screening submission. The GP referral pathway complements the clinical education campaign. Every project feeds every other.  Learn about HFI.

Want to Join the Registry?

Already diagnosed with HFI? Help us build Australia's first national picture of this condition. Register your interest to be notified when the registry opens.