Undiagnosed Disease Resources

The term ‘undiagnosed disease’ is used to describe people who are thought to have a genetic syndrome or condition that doctors have so far been unable to identify.¹

WA Undiagnosed Diseases Program 

Established by WA Health in March 2016, Australia’s first Undiagnosed Diseases Program (UDP),  is currently underway in Western Australia. The UDP-WA aims to provide a definitive diagnosis for people with complex and long-standing medical conditions.

  • 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.
  • An information booklet for parents and caregivers provides further details about the program. 

The focus of the program is currently on children with undiagnosed conditions who meet all of the following criteria:

  • are at least 6 months old
  • have chronic, complex and typically multisystem diseases
  • are well known to WA Health
  • have had multiple specialist assessments and hospital admissions
  • have clinical factors supporting the possibility of obtaining a diagnosis with current approaches, yet remain undiagnosed

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.

The UDNI provides further information, including articles and publications and related links

Patient Support

The following organisations and publications provide support and information for undiagnosed patients. Please send through suggestions for inclusion to this list to hello@gardn.org.au

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.

Neurocare

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

Share This