Undiagnosed Disease Resources

WA Undiagnosed Diseases Program 

Established by WA Health in March 2016 and available to paediatric patients only, aims to find a diagnosis for children with complex disorders.

  • The UDP-WA aims to take on one new patient per month. The program is still in its early stages and is currently not accepting external referrals.
  • Should an adult patient present with ‘red flag’ symptoms, the GP should consider referring the patient to Genetic Services of Western Australia (GSWA), if it is not obvious which medical specialty the patient should be referred to.

Undiagnosed Diseases Network International (UDNI) 

This recently established international network was formed to address the unmet needs of undiagnosed patients in other countries. Australia has a representative on the Board of Directors, Clinical Geneticist, Dr Gareth Baynam.

Patient Support

The term ‘Undiagnosed Disease’ describes people who are thought to have a genetic syndrome or condition that doctors have so far been unable to identify.¹

Syndromes Without A Name (SWAN) Australia 

Patient support organisation that offers support and information to families of children with undiagnosed genetic conditions.

Rare Connect

Undiagnosed diseases community section has resources, member stories and lists patient organisations that have experience in undiagnosed diseases.

Becoming an empowered patient

A toolkit for the undiagnosed, to help patients and families feel prepared, confident and educated on how to manage the next steps in their healthcare journey.

Undiagnosed CMD

Information on undiagnosed Congenital Muscular Dystrophy (CMD) including Merosin positive CMD.


The Neurological Council of WA (NCWA) provides a community neurological nursing service called Neurocare to support all people living with the impact of a neurological condition. Some neurological conditions can be difficult to diagnose, NCWA can provide Neurocare support during this pre-diagnosis phase.

¹ https://www.rareconnect.org/en/community/undiagnosed-diseases

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