Mystery patients and rare diseases: How will you help patients cope?

Dr Elizabeth Palmer, Clinical Geneticist and investigator on the Australian Government funded Rare Disease Awareness Education Support, and Training (RArEST) Project.

In this GP Connect feature, Dr Palmer explores strategies for dealing with uncertainty when you and your patient have never encountered the rare condition they present with. 

Imagine receiving a diagnostic report for a condition you’ve never managed before. You feel uncertain about the best way to proceed. How will you deliver the news to your patient and their family? How will you treat this condition? Who will you refer this patient to? What if there are no treatments? Where will you find reliable evidence-based information?

Individually, rare diseases impact a small number of patients (less than five in 10,000 people). They are often life threatening and chronically debilitating. Examples include genetic conditions such as cystic fibrosis and rare autoimmune and oncological conditions like systemic lupus erythematosus (SLE) and mesothelioma.

But collectively, rare diseases impact an estimated two million Australians according to the National Strategic Action Plan for Rare Diseases. Each Australian full-time equivalent GP will have an average of 74 patients living with a rare disease on their books at any one time.

Dealing with uncertainty

Rare disease patients and patient advocacy groups say it’s ok not to have all the answers at your fingertips. Here are their top tips for quality rare disease care and support:

  • Be honest: You may not have all the answers, and whilst that can be deeply frustrating for you as a healthcare professional, patients and families would rather you be frank and not pretend to have knowledge or expertise you don’t have.
  • Be open: Patients and caregivers affected by rare diseases often become ‘patient experts’. Their research and insights can be incredibly useful. By working together, you are more effective.
  • Check in: The early days after a rare disease diagnosis are a whirlwind. Once the dust begins to settle, patients will start to have more questions or require clarification about things they were told. Scheduling a follow up call in a few days can be a lifeline to patients and caregivers during an otherwise frightening and confusing time.
  • Keep your patients informed: Silence can be alarming. Providing patients with regular updates, even to say you are still waiting for a test result, or expert opinion, can go a long way to alleviating the anxiety and sense of being alone felt by most rare disease patients and caregivers.
  • Be prepared: Consider ‘calling a friend’ before a results appointment, such as your local genetics specialist, an expert in an appropriate group of rare diseases, or a relevant support organisation.

Go-to rare disease resources

Patients and families generally want to know as much as possible, but a ‘doctor Google’ search can lead them down confronting and confusing rabbit holes without guidance. Have your ‘go-to’ quality rare disease resources at your fingertips.

The national peak body for Australians living with a rare disease, Rare Voices Australia, is currently developing the Rare Awareness Rare Education (RARE) Portal. The RARE Portal will be a dynamic repository of rare disease information, state-and territory-based care and support services, and research and clinical trials information.

For clinicians, HealthPathways WA also provides locally relevant guidance on assessment, management and referral in the recently updated Rare Diseases pathway.

Other international resources include:

What if there is no diagnosis?

Up to 40 per cent of Australian rare disease families have reported they needed to see more than six different doctors and spend over three years, undergoing countless tests, for a correct diagnosis to enable access to the right treatment. One in three patients will have at least one misdiagnosis. The challenges of a timely and accurate diagnosis are further compounded by Australia’s geography, and the sparsity of rare disease experts and specialist centres.

Sadly, Aboriginal and Torres Strait Islander people, people from culturally and linguistically diverse backgrounds, those who have low socio-economic status and people with low health literacy experience the most challenges.

What do you do?

Treatments may not be available for a particular rare disease, but management of symptoms and person-centred care is always possible. The mental health impacts of rare diseases are immense: more than double that of the general population. Openly discussing mental health and wellbeing regularly, and offering support and mental health referrals, is important for patients, families and carers. There are even support groups for undiagnosed families such as SWAN (Syndromes Without a Name) Australia . Carer respite might be appropriate. Resources for family members,  including Carer’s Gateway and Siblings Australia

Rare diseases are often chronic, impact multiple body systems, are progressive and life-limiting. GPs play an essential role in coordinating care, providing continuous support and patient education throughout a person’s lifespan.

The RArEST Project

A three-year Australian Government Department of Health and Aged Care grant for the national Rare Disease Awareness Education Support, and Training (RArEST) Project has been awarded. The RArEST team is working to deliver rare disease mental health and wellbeing resources, disease-agnostic clinical guidelines, support and tools to help you identify the possibility of a rare disease, provide advice on referral pathways, reliable evidence and regular non-hierarchical case-based learning (complete a short anonymous survey about your needs as a healthcare professional) and more. You can also leave your details to learn more about the RArEST Project.

Alternatively, email the team at to get involved in the research in a number of ways—from being a researcher, to being interviewed by a PhD student, participating in case-based education sessions, viewing online training in your own time or by accessing rare disease resources. We are here to help you take care of your patients.

WA Primary Health Alliance in partnership with the Rare Care Centre is presenting a Rare Diseases in General Practice education event on 12 October 2022.

 Visit the online events calendar to register and find out more.

We challenge you to #DaretothinkRare!