Recommendation 5. Recognise and support mental health, social and emotional wellbeing needs as living with rare disease affects all facets of people’s lives.
Recommendation 5.1
Be aware of the mental health and wellbeing impacts of living with rare disease.
Why this is important:
People living with rare disease have an increased risk of developing mental health conditions.102 In a 2022 survey of people living with or caring for someone with a rare disease, over 90% reported feeling anxious, stressed, or experiencing low mood.68 High rates of stigma, isolation, uncertainty, and negative educational and financial impacts were reported, leading to a high prevalence of mental health conditions.12
People living with rare disease and their families/carers face particular mental health challenges compared to people with other chronic conditions, including the following experiences that were reported during the consultation to develop the Action Plan:9
- Feelings of isolation and loneliness
- Prolonged stress
- Ongoing and anticipatory grief
- Devastation and loss of hope.
These feelings can be caused by many factors, including:
- Diagnostic delay
- High burden of care
- Disease progression and emerging symptoms
- Limited proven treatments
- Treatments not working or clinical trials failing to progress
- Lack of knowledge about the condition to provide adequate understanding, including amongst health professionals.
“For me, the biggest challenge I face living with [rare disease] is the stigma and judgement around it. I feel weak or judged whenever I need to take a day for me. I also feel there needs to be more awareness of rare diseases in general. A lot of the time, I have to educate health professionals about my condition. I think there is also a need for more support financially and mentally for rare diseases.”
How to progress Recommendation 5.1:
Learn about the mental health and wellbeing impacts of living with rare disease. A lesson has been dedicated to the importance of mental health impacts within the free e-learning module, Rare Disease 101 Australia (Appendix 2.19)64 and includes videos of people living with a rare disease explaining what good mental health support looks like. Additionally, mental health impacts are often highlighted in patient stories profiled on rare disease and patient advocacy websites, including Rare Voices Australia’s website (Appendix 2.19).103
The specific impacts of living with a rare disease can be seen via video case studies in Supporting the Mental Health and Wellbeing of People Living with a Rare Disease on the RARE Portal (Appendix 2.19).
Recommendation 5.2
Ask about mental health and wellbeing at all appointments and recommend appropriate resources, support, and referrals.
Why this is important:
People living with rare disease consistently highlight the need for mental health and wellbeing to be integrated into their care. This builds trust, destigmatises these issues and facilitates appropriate care. Yet, a 2022 survey of more than 1000 people living with rare disease reported that nearly 50% of people had never been asked about their mental health.2
“I have had to find my own psychologist and ask my GP for a mental health plan… they’re not even recognising you need mental health support services.”
How to progress Recommendation 5.2:
Health professionals should ask about mental health and wellbeing at each appointment, check if the person needs any additional support, and show sensitivity to people and their family/caregivers. It is also helpful to validate their emotional and psychological responses to the many difficult experiences of living with rare disease.
Refer people living with rare disease, including their family members, carers, and support people, to additional support where required. Suggested topics for discussion include:
- Developing a mental health care plan and referring to a psychologist
- Identifying and connecting to appropriate support groups, considering cultural safety and accessibility
- Identifying and connecting to supports to help with practical issues including financial assistance, such as social workers, carer resources, or disability support organisations. The Disability Support Information section in the RARE Portal includes information about the NDIS, and aged care, disability and carer supports and resources11
- Signposting digital mental health and wellbeing resources
- Ensuring resources are culturally safe and appropriate, and helping navigate where access to services may be costly or have wait lists.
“A mental health care plan should be implemented post-diagnosis…ensuring that the patient [isn’t] struggling to come to terms with their rare disease, leading to social isolation. Sometimes you need to talk to a person that’s not a family member or a friend or a carer.”
A list of recommended services and resources for people living with rare disease, including for carers, the extended family, and siblings, is provided in Appendix 2.19 and 2.20. Rare Voices Australia, as part of the RArEST project, have developed educational resources to help support people with rare disease (Appendix 2.19).
When referring to mental health professionals, try to identify those who have experience working with people living with rare disease or have undergone relevant training. The RARE Portal (Appendix 2.2) provides links to national and state-based organisations and services.
Recommendation 5.3
Deliver strengths-based and trauma-informed care.
Why this is important:
When people are living with rare disease, much of the focus and language is on their deficits and problems. A strengths-based approach identifies the unique strengths, abilities, and resources the person and their support network possess. This can help identify ways that people living with rare disease can optimally deal with challenges, meet their health care goals, and function as integrated whole people.104 Recent studies on strengths-based approaches for people with chronic illness have found such approaches lead to increased activation and positive health outcomes.105-107
Trauma-informed care is a related approach that:108
- Considers what has happened to a person rather than what is ‘wrong’ with them
- Focuses on doing no harm
- Understands the effects of trauma
- Is sensitive to a person’s comfort and focuses on working with them.
Many people living with rare disease have had traumatic experiences associated with diagnostic delay, misdiagnosis, having their symptoms disbelieved, the diagnosis of a severe and/or life-limiting condition without treatment options, challenges accessing clinical trials or failure of research efforts, and/or the burden of care associated with a rare condition. Trauma can cause protective responses within the body that may then impact many aspects of mental and physical health.109
“I have consistently experienced my normal responses to ongoing pain, fatigue and long-term uncertainty being pathologised as an additional health condition.”
A trauma-informed approach, as detailed below, can improve engagement, treatment adherence, and health outcomes for people living with rare disease, as well as provider and staff wellness.110
Trauma-informed and strengths-based care recognises that health and illness are best understood in light of the person’s unique situation, their past and current experiences, culture, relationships, and the wider community context. These approaches are relevant to the delivery of person-centred and culturally appropriate and safe care (see Recommendation 1).
How to progress Recommendation 5.3:
In order to adopt a strengths-based approach the focus shifts from only considering the negative to considering what is currently working well, what the person does best, and what resources people have available.
This can be as simple as asking what the person is most proud of, what they do best, or how they have dealt with challenging situations in the past. A health professional can then work with the person to incorporate effective strategies into their management plan to help them deal more effectively with their life, health, and health care challenges.111,112
A trauma-informed approach starts with being aware that a person living with rare disease may well have experienced health care-related trauma. Signs might include:
- Having intrusive thoughts
- Avoiding seeing health professionals
- Negative changes in cognition or mood
- Hypervigilance.
Other actions for practicing trauma-informed care include:108
- Embedding physical and emotional safety into your practice
- Building trust by being reliable and responsive to the needs of people living with rare disease
- Collaborating with people living with rare disease and providing choice
- Respecting diversity in all its forms.
Resources to support strengths-based and trauma-informed care are provided in Appendix 2.21.
Indicators of good practice
 Actions | • Understanding the impact that a rare disease can have on mental health and wellbeing • Supporting the mental health and wellbeing of people living with rare disease • Supporting the mental health and wellbeing of carers and families, including siblings, of people living with rare disease • Considering strengths-based and trauma-informed principles in therapeutic relationships |
 Outcomes | • People living with rare disease feel supported in their mental health and wellbeing • People living with rare disease report feeling safe and supported following interactions with health professionals |
 Evidence | • Discussion and proactive addressing of psychological and social needs, including practical and financial supports • Use of mental health care plans • Referrals to psychology services • Use of appropriate mental health resources |
