Symptoms, uncertainty, managing care and changes in relationships or plans can all have an emotional impact. It is not always immediate or easy to recognise, and it may change over time.
This page explores these experiences, what may help and where to find support.
Our community helped shape this page by sharing their experiences and what has helped them.
This is general information, not medical, psychological or mental health advice. Genetic Alliance does not provide mental health care or crisis support.
Please speak with a health professional about any new, sudden or concerning change in mood, thinking, sleep or behaviour. Physical health, pain, medicines or treatment may contribute to these changes.
If you or someone you support is thinking about suicide or self-harm, contact one of the crisis services below. If someone is in immediate danger, call Triple Zero (000) or go to the nearest emergency department.
These services are available 24 hours a day, 7 days a week. GAA and the Genetic Health Navigator are not crisis services, and enquiries are not continuously monitored.
Why symptoms, uncertainty, managing care, difficult systems and changing roles can affect mental health and wellbeing.
Read about different responses to a diagnosis or significant change, uncertainty, grief and loss.
Understand how difficult healthcare experiences can affect wellbeing and find ways to feel more prepared and supported.
Explore changing roles, invisible needs and ways to explain what you or someone close to you may need.
Support with the feelings, changes and uncertainty that may come with a condition that worsens over time or may shorten life.
Explore professional, practical, digital and peer support, including where to start if you are unsure what you need.
Living with unanswered questions can be exhausting. You may have spent a long time seeking a diagnosis, trying to make sense of symptoms or asking for your concerns to be taken seriously. Even with a diagnosis, there may be little information about what to expect or what might help.
Worry and fear can sit alongside the frustration of not knowing. It can feel lonely when few people understand the condition or what daily life is like. Finding answers does not necessarily bring an end to that uncertainty.
Alongside this, there may be symptoms to manage, appointments, treatment, forms and decisions about care. These demands can affect work, study, relationships and family life, whether you are living with the condition or supporting someone close to you.
Reports and assessments often ask you to focus on what is difficult or what support is needed. Repeatedly describing these things about yourself or someone you love can be upsetting. They are part of the picture, not the whole person.
A condition or its effects may be ongoing or long lasting, sometimes described as chronic. This does not mean symptoms are constant or that every day looks the same.
Care can be complex when a condition affects several parts of the body, involves different services, changes over time or has little information available to guide care. Complexity can also come from services and systems that do not work well together. It does not mean you or the person you are supporting is difficult, its means our systems cant respond well enough yet.
Supporting mental health and wellbeing is not only about coping with difficult feelings. It is also about finding support where possible, sharing responsibilities and having room to rest.
Peoples health experiences, support needs and emotional responses are unique. The impact might show up as:
These may be understandable responses to what is happening. Some people may also experience a mental health condition such as anxiety, depression or post-traumatic stress.
Pain, fatigue, disrupted sleep, medicines, treatment and the way a condition affects the brain or body can also change mood, memory, concentration or behaviour. You do not need to work out whether a change is physical, emotional or both before asking for help.
For someone who communicates differently or without speech, distress, pain or illness may show through changes in communication, behaviour, sleep, appetite, taking part in everyday activities or doing things they would usually do. The people who know them the best may notice changes first and can help health professionals understand what is different.
You are not failing when you feel overwhelmed, stressed or not able to cope well. Our systems aren’t set up to support people with rare genetic and undiagnosed conditions very well yet and people and families are often left carrying the load. Don’t be worried about asking for help.
Uncertainty can affect plans, expectations and how the future feels. A diagnosis or change in health may bring new questions about what lies ahead.
For people who remain undiagnosed, the absence of an answer does not make the symptoms, practical effects or need for support less real. It can add to the worry and isolation, and make it harder to know what to expect or where to turn for help.
A diagnosis may follow years of searching for answers or come when you were not expecting it. It can bring relief, shock, worry or a mixture of feelings. Even when you have wanted an answer for a long time, you may not feel ready for what you are told. A significant change in health or care can also take time to absorb.
You may be given more information than you can take in. Give yourself time to process the news. Asking for information in plain language, writing down questions as they come up and scheduling your follow up appointment for when you are more ready can help.
There may be things you wish had been said or handled differently. Talking with someone you trust, including a mental health professional where needed about your experience may help.
It can be hard to find the words at first. A genetic counsellor can help you understand your diagnosis and find the words to explain it to the people you choose to tell. If you have not had the chance to speak with one, you could ask your healthcare team about a referral.
Read more in RareMinds UK: The early days after a diagnosis →
Daily responsibilities do not stop when you receive difficult news or something changes. There may be little room to take it in, let alone follow advice to “take a break”. Looking after yourself needs to fit the life you are actually living.
Where possible, it may help to:
Sometimes you keep searching because you hope the next page will give you an answer or help you feel less worried. But you may end up with more questions and frightening information that is hard to put into context.
If searching is leaving you more worried, it is okay to stop for the night. Save the link or write down the question to revisit with your healthcare team. What you read may describe someone else’s experience, not what will happen to you or the person you support.
Bereavement grief usually refers to the experience of losing someone through death but grief can also describe responses to other kinds of loss and change. This includes changes in health, independence, roles, relationships, opportunities, expectations or a sense of certainty about the future.
Adults living with a rare, genetic or undiagnosed condition can value their lives and identities while also grieving changes in health, independence, relationships, opportunities or plans.
Many people in community shared that sadness does not fully describe what they feel. They may be deeply grateful for and proud of the person they love, while also grieving challenges that person should not have to face, experiences that have been made harder, or the ease, choice and security they wanted for them.
For many, these feelings are not about wishing the person were different or valuing their life less. They can reflect how deeply that person is loved and the hopes and wishes held for them.
Partners may grieve changes to the life they expected to share, including changes in plans, roles, intimacy, independence or their sense of the future. This can happen alongside love, commitment and gratitude, including when a partner does not think of themselves as a carer.
Some counsellors and mental health professionals specialise in supporting people through grief and loss, including losses other than a death. They can offer space to talk about what you are carrying and find ways to live alongside it, without telling you how to feel or pressuring you to ‘move on’.
Search our support directory for specialist grief counsellors →
RareMinds: Understanding change and loss with a rare condition →
You may want people to understand what you are dealing with, without every conversation becoming about your health or the person you support. Work, friendships, interests and plans still matter, even when there is less time or energy for them.
How you feel about a condition can change as life changes. Words like “disabled” or “carer” may help you find support and people who understand, or they may not feel like words you would use about yourself.
Others may see you on a good day without seeing what it took to get there or how much rest you need afterwards. Explaining this repeatedly, or finding that people have stopped inviting you, can hurt.
Relationships can change when more care is needed. You may feel closer in some ways and miss how things used to be in others. Sometimes it helps to say what you need from each other, including time together that is not about getting things done.
When talking with friends, relatives, workplaces, schools or others in everyday life, you can choose what to share, who to share it with and when. You do not have to explain everything. Sometimes a simple sentence is enough:
Sibling relationships can include love, closeness, humour and the ordinary ups and downs of family life. Rare disease or disability may also bring changes to routines, time together, family plans or activities. Siblings may have questions or mixed feelings about these changes. Those feelings can sit alongside love for their sibling.
Some siblings identify as young carers and others do not. They are first and foremost siblings. A caring role may be part of the relationship, but it is not the whole relationship. Information or support focused on a sibling’s own experience and wellbeing can sometimes help.
Siblings Australia → Information and support for siblings of people with disability or chronic illness, including children, teenagers and adults.
Young Carers Network → Information and pathways to support for young people who identify as young carers.
Difficult healthcare experiences can affect trust and make future appointments harder. Having to navigate many unfamiliar systems can add to the pressure, especially when you are left trying to understand what happens next.
Repeated medical emergencies, frightening experiences or long periods of uncertainty can leave you constantly alert to symptoms, changes or signs that something is wrong. This heightened vigilance can be exhausting and difficult to switch off, even when things are relatively stable. If you are a parent or carer, you may also have to make difficult decisions about tests, treatment or care without knowing what will happen.
Agreeing to something that may cause distress or pain, and then watching someone you love go through it, can carry a heavy emotional weight. Knowing it is necessary does not make that responsibility easy to carry.
What may help:
The Australian Charter of Healthcare Rights explains what you, or someone you care for, can expect when receiving healthcare. This includes respect, partnership, clear information, privacy and the opportunity to give feedback.
If you feel that you or the person you support is getting worse and the healthcare team has not addressed your concerns, there are ways to ask for an urgent review of care.
NSW: Raise It, previously called REACH →
You can still use the same principles in other states. Ask your hospital about its process. These pathways address concerns about worsening health, rather than general complaints about care.
Progressive means a condition is expected to worsen over time, although the pace and pattern can vary. It does not necessarily mean it will shorten someone’s life. Life-limiting means a condition may shorten a person’s life. Neither term tells you exactly what will happen or when. Your healthcare team can help explain what these words mean in your circumstances.
Knowing that health may worsen can change how the future feels. You may be managing changes now while worrying about what comes next. When a condition is life-limiting, there may also be fears about dying, losing someone you love or how those close to you will manage.
People close to each other may want different amounts of information or be ready to talk at different times. Culture, faith and previous experiences can shape what feels right. A healthcare professional, social worker, psychologist, spiritual care practitioner or cultural support person may help you talk through concerns and decisions, with respect for your wishes.
Palliative care helps children and adults with a life-limiting condition live as well as possible. It can help manage pain and other symptoms, provide emotional, practical, social and spiritual support, and support families and carers.
It can begin early, depending on the person’s needs, and be provided alongside treatment for the condition. Care is guided by what matters to the person, including their wishes, values and cultural needs. Receiving palliative care does not mean other treatment must stop or that someone is in their final days or weeks.
Healthdirect: Palliative care →
Palliative Care Australia: Find palliative care services →
Palliative Care Australia: Paediatric palliative care resources →
Support can be useful before things reach a crisis. Consider speaking with a GP, treating clinician or mental health professional if changes in wellbeing:
make work, study, caring, appointments, decisions or relationships harder
involve hopelessness, feeling trapped, being unable to cope, or relying on alcohol, medicines or other drugs to get through
The options below offer different kinds of support. If getting started feels difficult, someone you trust may be able to help you make enquiries or book an appointment. Your healthcare team may also be able to suggest services or arrange a referral where needed.
Medicare Mental Health offers a free phone service to help you find mental health support in Australia. You do not need a referral, diagnosis or Mental Health Treatment Plan to call.
Call 1800 595 212, weekdays from 8.30 am to 5.00 pm, excluding public holidays.
A counsellor, psychologist or another mental health professional can help you talk through what you are experiencing and help you find ways to manage.
Before booking, it may help to ask about:
If a mental health condition is diagnosed, a GP may consider whether a Mental Health Treatment Plan is appropriate. A plan can help with the cost of eligible services, but it may not cover the full fee.
Healthdirect: Mental Health Treatment Plans →
Some services specialise in particular rare conditions. For example, 22qMinded offers psychological support and education for people with 22q-related conditions and their families.
Aboriginal community-controlled health services
Your local Aboriginal community-controlled health service may offer social and emotional wellbeing support, counselling or connections to other services. What is available varies between locations.
Find an Aboriginal community-controlled health service →
WellMob
Online resources supporting the social, emotional and cultural wellbeing of Aboriginal and Torres Strait Islander people.
13YARN
Free, confidential crisis support with an Aboriginal or Torres Strait Islander Crisis Supporter. Call 13 92 76, any time of the day or night.
Embrace Multicultural Mental Health provides mental health information, translated resources and links to services for people from multicultural communities.
Intellectual Disability Mental Health Connect provides mental health and wellbeing information for people with intellectual disability, their families and the people who support them. Some service information is specific to NSW.
When life already involves many appointments, support you can access from home may be easier to fit in. Online and phone services can offer information, practical skills and treatment, either with a mental health professional or at your own pace.
Some services are free and may have shorter waiting times. They can also provide support and tools to use between in-person appointments.
Explore the options
Developed with input from people living with rare conditions, the RArEST Project’s fact sheets explain digital mental health support and introduce Australian services for individuals, families and carers.
The RARE Portal
Information about mental health support and services for Australians living with rare or undiagnosed conditions, their families and carers.
Rareminds Wellbeing Hub
Information and practical suggestions about the emotional impact of rare conditions, including diagnosis, relationships, uncertainty, change and loss.
A free online treatment program for eligible Australian adults with a diagnosed chronic physical health condition.
For help with everyday needs and practical pressures, explore our Disability, daily life and getting support and Financial, carer and everyday support pages.
