3.5: Diagnosis and Mental Health

Key life events and transition periods can have a significant impact on the mental health and wellbeing of those living with a rare disease.47 Receiving a rare disease diagnosis can be devastating and coming to terms with the diagnosis can involve stress, worry and anxiety.53 

Many families receiving a rare disease diagnosis have reported that the way the diagnosis was given set the ‘tone’ of their experience moving forward.50

“This whole experience of being diagnosed has had a massive impact on my mind and confidence.”

– Person living with a rare disease

Often people living with a rare disease report that their diagnosis:

  • Was communicated insensitively, with a lack of empathy.
  • Provided inadequate information about the disease.
  • Did not include a clear path of management or plan for care coordination.
  • Lacked offers of support or counselling.2,46

“I believe having access to support in the very early days of learning and adapting to a family’s new rare disease journey, physically and emotionally, is required.”

– Person living with a rare disease

Positive Aspects of Formal Diagnosis

Evidence indicates that resilience and adaptiveness in those living with a rare disease can be increased with:

  • Health care professionals who are sensitive to the psychosocial impact of diagnosis.
  • Timely access to information on the disease that the person has been diagnosed with.
  • Shared decision-making between the medical team and the person living with a rare disease and family. 38,54,55

A diagnosis of a rare disease, if appropriately handled, can ease the way to effective care and treatment, and act as a positive turning point in a person’s medical journey.54

2.5: Rare Disease and Mental Health First Aid Summary

Module 2 has focused on the Australian context for rare disease, and the National Strategic Action Plan for Rare Disease’s action plan for mental health integration into rare disease care, and the benefits of Mental Health First Aid training.

This module has covered:


Approximately 2 million Australians live with a rare disease.


Australians living with a rare disease experience a lack of targeted mental health support that is integrated into their care.


The National Strategic Action Plan for Rare Diseases acknowledges the importance of mental health and wellbeing supports for people living with a rare disease.


Stream 1 of the Rare Disease Awareness, Education, Support and Training (RArEST) Project aims to develop mental health and wellbeing supports customised for the rare disease sector.


Mental Health First Aid is an accredited and evidence-based training program that equips individuals to provide immediate support to someone experiencing mental health issues or a mental health crisis.


100 Mental Health First Aid training places have been fully funded through the RArEST Project, providing rare disease organisation employees and volunteers with the opportunity to become accredited Mental Health First Aid Officers through Mental Health First Aid Australia.

3.7: Impacts of Rare Disease on Mental Health Summary

This module has explored the impact of living with a rare disease on mental health.

This module has covered:


People living with rare diseases experience additional stresses and challenges that can impact on their mental health beyond those experienced by others with chronic and complex disease. 

People living with a rare disease are more likely to experience stress, depression, and anxiety than the general population. 



Mental health and wellbeing support is not integrated into medical care for rare diseases. 46% of rare disease patients stated that their medical team did not ask about their mental health. 

Delays in diagnosis of a rare condition increases mental health stress factors and a sense of invalidation from health care providers. The longer the delay in diagnosis, the more the burden and cost is transferred from the health care system to the person living with a rare disease and their families.



The emotional impact of a diagnosis can be highly variable…ranging from devastation to relief. How the health care provider delivers the diagnosis and plans follow up is an integral part of how the person living with disease perceives it.

Grief, anticipatory grief and bereavement are common experiences for people living with a rare disease.  While grief is a usual response to receiving a rare disease diagnosis and associated losses, prolonged grief can have a serious impact on mental health and wellbeing.



Evidence shows that with the right support, training, information and care people living with a rare disease are resilient and can adapt to a rare disease diagnosis.​

Understanding the unique challenges and experiences that impact on the mental health and wellbeing of those living with rare disease can help Mental Health First Aiders adapt and apply tools and skills to the rare disease context.​ 



Referral pathways and mental health resources that address the broad and diverse mental health and wellbeing needs of Australians living with a rare disease are an important part of providing support.​ 

3.3: Lack of Mental Health Support

Mental health and well-being support for people living with a rare disease is not routinely integrated into rare disease care, with people living with a rare disease reporting inadequate or non-existent mental health support.8,38-40

For example, only 47.5% of Australians living with rare diseases stated that they were offered referrals to counselling or therapists at the time of their diagnosis.38

For me, the biggest challenge I face (living with a 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 education health professionals about my condition. I think there is also a need for more support financially and mentally for rare diseases.

– Person living with a rare disease

“I believe having access to support in the very early days of learning and adapting to a family’s new rare disease jrouney physically and emotionally is required.

– Person living with a rare disease

Living with a rare disease takes a toll on my mental health and wellbeing. Access to mental health care services is vital.

Person living with a rare disease

(Click through for more quotes from people living with a rare disease)

Rates of stress, depression, and anxiety in people affected by rare diseases are much higher than in the general population.41-43 Because of this, studies emphasise the importance of psychological support for all people living with rare disease.44

-39% of respondents felt their mental health needs were met compared to 62% who stated that their physical health needs were met. 
- 46% of respondents were never asked about their mental health. 
- 80% felt they weren't taken seriously by medical professionals. 
- Half the respondents felt they were treated like a medical curiosity at times. 
- 23% said their care team thought mental health was as important as physical health. 
-87% reported their mental health negatively impacted their physical health. 

Respondents stated that medical professionals could help by: 
- Asking about a patient's mental health
- Making patients and caregivers aware of existing services, such as counselling and support groups. 
- Helping patients navigate getting access to support and services.

Adapted from Spencer-Tansley, Meade, and Ali.45

Evidence indicates that learning coping skills; shared decision making with health care professionals who are sensitive to the psycho-social impact of diagnosis; support networks; and timely access to information are associated with resilience and adaptiveness in those living with a rare disease.10

“I’ve been told many times ‘You’ll never…’ but while I am still here and still breathing I will make it my mission to show them I can and I will.”

– Person living with a rare disease

“I believe life is what you make of it; when we were younger our parents guided us and now I choose the path I want to take and I want to live life as long as I can.”

– Person living with a rare disease

(Click through for more quotes from people living with a rare disease)


1.3: Course Structure

Course Duration

This course is designed to be completed at your own pace. You can save your progress and return as required.

Each module in this course should take about 15-30 minutes to complete.

Completion of the course in full should take approximately 1-2 hours.

Course Structure

This resource is broken down into 5 different modules. Each of these modules is designed to cover a different aspect of Mental Health First Aid within rare disease organisations.

1. Course Overview: This module will introduce the participant to the 'Applying Mental Health First Aid to a Rare Disease Context' and explain how to use the course. 
2. Rare Disease & Mental Health in Australia: Discuss the context surrounding mental health first aid and rare disease in Australia. 
3. Impacts of Rare Disease on Mental Health: Explore the experience of people living with rare diseases and the impacts that rare disease has on mental health and wellbeing. 
4. Rare Disease Organisations and MHFA: Examine the role of rare disease organisations in providing mental health first aid, and strategies to ensure a healthy workplace and workforce. 
5. Course Summary: Summary of context presented to the participant and a final overview of the course.

When using this resource you may navigate between modules or topics in any way that suits you.

4.5: Employee and Volunteer Self-care

Throughout the codesign process, people living with a rare disease spoke of the importance of self-care in managing stress, anxiety and pressure associated with rare disease organisation leadership roles.

Proactive self-care is essential for those in rare disease organisations who are providing emotional, social or mental health support to others.24

Mental Health First Aid training covers self-care tips and strategies for Mental Health First Aiders.17 People who have completed MHFA training are encouraged to apply the tools and strategies most relevant to them.

Self Care Skills and Knowledge

Below are some other tools, tips, and programs that can assist employees, volunteers and people living with a rare diseases to strengthen their self-care skills.

Utilising these tips and techniques may help rare disease organisation staff, volunteers and the people they support to strengthen their self-regulation and self-care skills.

Mindspot Logo

● This Self Care Planning Tool from Mindspot has hints and tips to help you develop a customised plan for managing stress with self-care.25

Black Dog Institute Logo

● Black Dog Institute’s video playlist, Working Towards Wellbeing, contains a series of 13 videos on different aspects of mental health and wellness, and explores many simple and practical tips. These tips can be applied by rare disease organisation workers and people living with a rare disease.26

Carer Gateway Logo

● For many in the rare disease community, a barrier to self-care is carer responsibilities that can be associated with managing a rare disease.  The Carer Gateway provides free counselling to carers, as well as online skilled courses, peer support groups, and tips and information.27-30

Sometimes individuals may need more than self-care routines and practices to manage stresses associated with their roles.  Below are some online, evidence based mental wellbeing programs and resources to help with proactively managing stress:

Mindspot Logo

Mindspot offers a digital assessment of your mental health, and recommends free online courses based on your answers. Users are able to schedule a telephone call with a qualified therapist to discuss enrolment into programs, or self-enrol in general mental wellbeing courses immediately after assessment.31

Black Dog Institute Logo

Blackdog’s myCompass program is a free customised and interactive resource that allows you to track thoughts, feelings, and behaviours to help you better recognise patterns and triggers that have an effect on your mental health. myCompass utilises proven psychological techniques such as Cognitive Behaviour Therapy (CBT) to help you develop further self-care and coping mechanisms.32,33

eHub Assist Logos - a series of three logos for the eHub Government Program. Includes the eCouch, Moodgym, and Blue Pages Logos.

eHub Assist, funded by the Commonwealth Department of Health, provides access to three free online-self help programs: moodgym, e-couch, and Bluepages Depression Information. Each program has been developed using over 15 years of e-mental health research, and can assist users to develop skills to cope with various aspects of mental wellness.34-40

4.4: Strategies for a Mentally Healthy Workplace

When thinking about mental health and wellbeing supports, rare disease organisation may want to consider:

  • Approaches and mechanisms in place to support mental health and wellbeing in online forums.
  • Policies and procedures that support the mental health and wellbeing of organisational staff and volunteers.
  • Support for team members who provide others peer or emotional support as part of their role.19-21

Developing Organisational Mental Health Strategies

Mental wellness within the workplace requires both an organisational view and a personal commitment from the team.21 Rare disease organisations can encourage personal commitment to self-care by integrating mental health and wellbeing into organisational policy and practice.

Heads Up Logo

You may wish to utilise the Head’s Up Online Tool22 to assist you to create a Mental Health Action Plan that is specific to your organisation’s needs.

Heads Up also provides a How To Guide on Developing a Workplace Mental Health Strategy23 that organisation leaders may find useful.

4.3: Mental Health and Wellbeing of Staff and Volunteers

It is important that rare disease organisations also look after the mental health and wellbeing of their own staff and volunteers, who often have lived experience of rare disease.

Research suggests that mental health providers, including Mental Health First Aiders, “may not always feel that they are able to engage in [self care] due to financial, time, or other constraints”.18

Completing the exercise below will assist in reviewing your organisation’s current focus on mental health and wellbeing for staff and volunteers.

MHFA Reflection Exercise - 4.4 Mental Health & Wellbeing for Staff

This is a reflection exercise intended to assist rare disease organisation leaders to assess their current level of mental health and wellbeing strategies employed in their organisation; identify positive existing supports and gaps that could be addressed.

How often is the mental health and wellbeing within your organisation discussed?
Examples of discussion could be: team meetings; policy review; one-on-one supervision; formal performance reviews; informal discussions between team members or peers.
How satisfied are you with the current level of organisational focus on mental health and wellbeing?

4.2: Boundaries of Expertise and Knowledge

Those with a leadership or support role in a rare disease organisation are managing a range of demands and challenges. 

Rare disease organisation leaders who assisted in the codesign of this project reported a deep sense of responsibility, care and concern for individuals in their community.

Commonly the care and passion felt by rare disease organisation leaders is fuelled by personal lived experience and a desire to help others avoid some of the distress and pitfalls they experienced themselves. However, without appropriate boundaries, providing support to others can become a burden.

The Mental Health First Aid17 training introduces the concept of ALGEE:

Mental Health First Aid Action Plan: 
- Approach the person, assess and assist with any crisis. 
- Listen and communicate non-judgementally. 
- Give support and information. 
- Encourage the person to get appropriate professional help. 
- Encourage other supports. 
Learn more at mhfa.com.au/courses.

Appropriate boundaries can be maintained by ensuring mental health support is that of a “first responder” nature only, and then:

1. Encourage: Encourage the person in a crisis to reach out to their support networks and health care team for additional support or information. 
2. Link: Link the person in crisis to appropriate mental health support services. 
3. Provide: Provide information to the community about relevant resources and e-mental health support services.

The exercise below examines the range of actions and expertise that a rare disease organisation leader can provide as a MHFA Officer when supporting others living with rare disease.


  • To access full screen, click the full-screen icon on the top right hand corner.
  • Drag each action on the left into either the ‘Role of MHFA Officer’ or ‘Outside Role of MHFA Officer’ box.
  • Click the ‘Check’ button in the bottom left hand corner once complete to confirm your responses.

4.1: The Role of Rare Disease Organisations

Mental health and wellbeing supports required by the rare disease community are diverse and complex.1,2

As most mental health services and resources are generalist in nature, they may not address some of the specific mental health challenges that are unique to rare disease.

Role of Rare Disease Organisations

Lived experience and research demonstrate that rare disease organisations:

  1. Play an important role in supporting the wellbeing of their communities
  2. Are sources of connection, shared experience, and factual information about the rare disease they support3-11

“Thankfully, there was an online community that I reached out to. I have connected with other parents all over the world. I’ve connected with others… who have been such a great source of knowledge in this new [rare disease] world that is such a huge part of our lives”

– Person living with a rare disease

“[Rare disease therapy] is a very complex and highly specialised life supportive therapy and not knowing anyone on [rare disease therapy] can be very isolating and challenging. However, being part of the ‘rare disease support organisations] email group and closed Facebook group helps me to connect with people just like myself and to feel supported”

– Person living with a rare disease

“I find the [rare disease] community to have a wonderful inner strength about them, and a great sense of humour which no doubt helps us to cope with the challenges we each face daily. Connecting with the [rare disease] community has helped me feel less alone and isolated with the condition.”

– Person living with a rare disease

“Thankfully for us, we were able to connect with other families in Victoria who are on the same journey via [rare disease support organisation], and we now catch up and support each other. We are grateful… we can gain advice thanks to our experiences.”

– Person living with a rare disease

(click through for more quotes from people living with a rare disease)

For many in the rare disease community, the ability to share their experiences and knowledge with someone else with the same condition is transformative.3-11

Whilst rare disease organisations do not specialise in the provision of mental health support, it is common that these organisations are the first point of contact for people living with a rare disease who require psychological aid.

When considering providing additional mental health support or information, an organisation should consider:

  • Capacity and resources available.
  • Expertise of the workers and volunteers.
  • Focus of the organisation.
  • Other organisations or resources that may be more appropriate to provide support.
  • Mechanisms to ensure that any support provided is appropriate and within the organisational expertise.12,13

Organisational Strategy and Compliance Checklist

Below is an exercise will provide you a basic checklist that you can use as a basis to further analyse your organisation’s policies and procedures around mental health and wellness. Please note that this checklist is not exhaustive – it will act as a useful jumping point. This checklist has been adapted from a combination of more comprehensive toolkits12-15, listed in the Materials Section of this module.

Developing strategies and systems to ensure mental health and wellness of staff and volunteers is important. However many rare disease organisations are small and community led, so may lack the resources required to develop some or all of the below. Research, as well as feedback from stakeholders in the rare disease community, shows that rare disease organisations play an important role in supporting the mental health and wellbeing of their community through breaking isolation, providing peer support, and shared experiences.

To complete this checklist, read through the statements provided and reflect upon your organisational policy and procedure to identify any potential gaps. If your organisation already has the item in place, click ‘Implemented’. If your organisation is currently working on the item and intends to implement it shortly, click ‘Developing’. If your organisation has not yet addressed the item click ‘Not Implemented’. If your organisation lacks the resources or reach to currently act on the item, you can click ‘Not Applicable’.

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Depending on your rare disease organisations staff and resources, addressing some of the potential gaps identified may assist you to better support your rare disease community.