Project background

Did you know around 12% of Australians suffer from an autoimmune disease? And that over 80% of them are women? Symptoms are often broad and overlapping with other disorders, which makes diagnoses tough. As a direct result, diagnostic journeys can be long and frustrating. Anecdotally, we are aware that self medication and self diagnosis are rife in the autoimmune community, and that this journey can impact (or be impacted by) mental health. Regrettably, this information hasn’t reached the research community. This presents a real problem, as some of these factors can change the results of studies, which can make interpretation confusing, or even worse, wrong.

We think that needs to change. To do that, we have designed a survey to capture the experiences of the Australian Spoonie community and we hope you help us gather this information - the more we can collate, the clearer any trends around medication, mental health and diagnosis will be. So, please help us document our collective life stories and write them into the scientific literature, so patients can be treated more adequately.

If you are:

  • Currently residing in Australia
  • 18 years old or older
  • have any chronic illness (if not on the list, please out into Other section), including
    • ME/CFS
    • MS
    • Coeliac
    • EDS
    • POTS
  • or are currently healthy
  • do not have a history of a psychological illness or condition such as to interfere with the patient’s ability to understand the requirements of the study or preclude autonomy to sign legal documents

then add your voice to patient advocacy by filling out the

Survey

Project aims

in a nutshell

Community practices

Collate how patients handle their illness

Diagnostic journeys

Document how patients are treated

Scientific accountability

Publish community trends & make accessible

Autoimmune disorders

Our immune system protects our bodies against pathogens. Pathogens are excellent at rapidly changing and adapting (think influenza seasons and SARS-CoV-2 variants), so our immune system has to rapidly adapt too to maintain our defences. However, this can go wrong and rather than targeting foreign invaders, the immune system can start attacking our own cells. This causes inflammation, tissue and organ damage, which is referred to as autoimmunity. There are over 100 autoimmune disorders (e.g. lupus, rheumatoid arthritis, multiple sclerosis), which can affect any part of our body and cause systemic, debilitating or even fatal illness. Symptoms can vary between patients with the same illness, or be similar despite patients having different illnesses. This makes diagnosis difficult, time intensive and fraught with uncertainty.

Researchers

Dr. Sara Ballouz

My central scientific interest has been to understand the genetic architecture of disease. With data from the genome, transcriptome, epigenome and proteome increasing exponentially, robust tools and practices need to be established to analyze this deluge, in particular if to be applied to personalized medicine. The group’s current focus is on exploring and understanding X-linked disorders and sex differences in disease, with a particular interest in autoimmunity.

Dr. Anna Liza Kretzschmar

I am a post doc in Sara’s group, working on the underlying mechanisms of autoimmune disorders and why the majority of patients are female. While this field is new to me (I worked on neurotoxic algae genetics for my PhD), I am painfully aware of the often dismissive and inadequate treatment spoonies receive from the medical community. I am immunocompromised, suffer from fibromyalgia and chronic fatigue syndrome and I would really like to use my training to help improve my fellow patients' lives and diagnostic journeys.

Garvan Institute of Medical Research

The Garvan Institute of Medical Research brings together world leading basic and translational researchers with expert clinicians. We are patient focused. Our researchers break down the barriers between traditional scientific disciplines to find solutions to disease.

Our mission is to harness all the information encoded in our genome to better diagnose, treat, predict and prevent disease. Garvan’s research has global impact. Our scientists pioneer discoveries across four intersecting research themes. We lead the field in medical genomics, epigenetics, and cellular genomics; cancer; diseases of immunity and inflammation; and diseases of ageing affecting bone, brain and metabolism.

Garvan-Weizmann Centre for Cellular Genomics

The Garvan-Weizmann Centre for Cellular Genomics is a research centre and service provider focused on understanding how our inherited DNA sequence is copied and put into action in each of the 3 trillion nucleated cells of our body. We reveal the genomic details of individuals cells to better help doctors diagnose and treat diseases.

By bridging the information gulf between genomic DNA sequence information and standard clinical measures of tissue and organ pathology, cellular genomics is making Garvan’s genomics and epigenetics research even more beneficial to everyone’s health.

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