Rare, genetic and undiagnosed conditions can affect everyday life in many different ways. Disability may be present from birth, emerge later, fluctuate or change over time. Some disabilities and support needs are visible and others are not. Even people with the same condition may have very different experiences, abilities and support needs.
This page brings together practical information about finding support, communicating what matters, accessing healthcare and disability services, and getting help when systems are difficult to navigate. It is for people of all ages and the families, friends and others supporting them.
People use different words to describe disability and their own experiences. Use the language that feels right for you.
Understand what support or adjustments may be available while investigations continue.
Know what to look for when it is difficult to find someone familiar with the condition.
Use practical tools to communicate what matters across services and settings.
Find rare-specific guidance about evidence, access and navigating the NDIS.
Find places to begin when a child or young person needs support.
Find support for adults and older adults, whether seeking help for yourself or someone else.
Find support for people providing unpaid emotional, practical or personal support.
If any of this feels heavy right now, support for emotional wellbeing and relationships is available too.
Rare, genetic and undiagnosed conditions can affect many parts of life at once. A person may experience changes involving movement, communication, learning, breathing, nutrition, seizures, pain, fatigue, memory or understanding. Some effects are visible and others are not. They may be stable, fluctuate or change with age, illness, treatment or the progression of a condition. Even people with the same condition may have very different experiences and support needs.
Disability is shaped not only by a person’s condition or impairments, but also by the barriers around them. When a condition is rare or undiagnosed, these barriers may include limited information, fragmented services, inaccessible environments, professionals unfamiliar with the condition, long travel distances and uncertainty about what the future may hold.
A confirmed diagnosis may guide healthcare, provide information or open pathways to treatment and support. It should not be treated as proof that a person’s needs are real. Support and adjustments should respond to the person’s current needs, goals and circumstances, including while investigations continue, and be reviewed as these change.
There are different ways of understanding disability. The medical model focuses mainly on a person’s condition and how it can be diagnosed, treated or managed. The social model looks at the barriers a person faces and what can be changed or removed so they can take part in everyday life.
For people living with rare, genetic or undiagnosed conditions, removing barriers may not remove pain, fatigue, seizures or other effects of a condition. Medical care and treatment may still be important. At the same time, inaccessible services, inflexible systems and assumptions can make daily life harder.
Social and human rights approaches recognise disability as part of human diversity. They focus on the person’s rights, dignity, choices and goals, while also recognising that healthcare and support may be important.
Learn more about different ways of understanding disability →
When there is no diagnosis yet, or the condition is so rare that very little is known about it, it can feel as though everything is on hold. But daily life is not on hold. The pain, fatigue, seizures, communication or mobility difficulties, developmental differences, problems with eating or breathing, or need for extra help are already part of life.
You do not need a diagnosis to know that something is difficult or that support is needed. What you are noticing matters. The impact on daily life is real, even when no one can yet explain the cause or tell you what may happen next.
Support can begin with what is happening now: what is difficult, unsafe or taking a lot of effort; what the person wants or needs to do; and what might make everyday life easier or more possible.
Depending on the person and their circumstances, support might include:
The right support should fit the person and their life and change as their needs, circumstances and priorities change.
Disability support is broader than the NDIS. It may also come through schools, workplaces, health services, community organisations, local programs and other government systems. Each service has its own eligibility requirements, but not having a confirmed diagnosis does not make the person’s needs any less real.
It is hard to answer ‘What support do you need?’ when no one has explained what is available, particularly when you are still trying to understand what is happening.
You do not need to know the name of a service. Start with what is difficult now, what already helps and what you would like to make easier or more possible. That is enough to begin the conversation.
People are often asked what they can or cannot do. That can miss what it takes to make something possible.
The support someone needs may only become visible when the whole day is considered.
It can come as a shock to realise that finding support is not the end of the work. You may still have to explain, ask again or challenge decisions so you or the person you support can be included in ordinary parts of life, such as school, sport, work, healthcare or the community. Sometimes exclusion is obvious. At other times, it sits behind an inflexible rule, an assumption or a decision described as practical or necessary. This can be exhausting, especially after the work of finding answers and support.
You do not have to manage every issue alone. An independent disability advocate may be able to help you understand your options, express your wishes, protect your rights or address a problem with a service or system.
Finding someone to help make sense of the options can be difficult, especially when no service has a clear coordinating role. A GP, treating team, social worker, allied health professional, disability advocate or community organisation may help identify possible next steps. You may need to try more than one place.
It can be difficult to find a therapist, allied health professional or support worker with experience of an exact condition. It may be more useful to search by the person’s support need, such as communication, swallowing, seating, fatigue management or support for a condition that changes over time. Condition organisations, specialist clinics and other families may also know professionals who are willing to learn. Telehealth or shared care may be possible when suitable services are not available locally.
Rare disease disability support information from the Rare Voices Australia Rare Portal →
Look for someone who:
Before agreeing to ongoing support, ask about the approach, costs, commitments, review points and what happens if the arrangement is not working. Where choices are limited, you can still ask what could be done differently.
You may be the person connecting all the dots
With rare and complex conditions, a parent, supporter or the person themselves may become the one source of continuity between specialists, hospitals, allied health, disability services, schools and funding systems. You may be the person holding the history, noticing how one issue affects another and explaining it again when people or services change.
People and families should not have to carry this alone. Where available, a named healthcare professional, care coordinator, social worker, disability liaison officer or care navigator may help connect the team, share agreed information and clarify who is responsible for the next step. Ask what support is available for you.
A short, current summary can help the next person understand what matters without you having to begin at the beginning every time. It does not need to be perfect or include everything. The tools below can help you decide what information may be useful and bring it together in a format that can be updated and shared.
This management plan is part of a Rare Voices Australia’s nationally co-developed Rare Disability toolkit. It brings information about a condition, strengths, goals, daily activities and health and disability support needs into one place. The guide and fillable form can help make the person’s needs, choices and wishes easier to understand across services, including how needs change and the support provided by family and friends.
This national resource has been co-developed by the team at Rare Disease NSW and the rare community. This is a portable resource intended to help you share important information about health, communication, support and care needs across unfamiliar settings, whether you are completing it for yourself or with someone you support.
Plans and passports should be developed with the person, kept current and shared only with their agreement. They can complement clinical records, emergency plans and professional assessments, but do not replace them.
Everyone has the right to healthcare they can access, understand and participate in. Reasonable adjustments are changes that can make healthcare safer and more accessible and make it easier for the person to communicate and take part in decisions.
Adjustments might include:
Some hospitals have disability liaison officers who can help plan adjustments.
Use Rare Voices Australia’s reasonable adjustments in healthcare guides and checklists →
The National Disability Insurance Scheme is an important source of disability support. It has specific access, eligibility and evidence requirements.
A diagnosis alone does not describe a person’s disability or support needs. When a condition is rare, undiagnosed, fluctuating or changing, evidence may need to explain what the person can do, where they need help, what it takes to complete everyday activities and how their needs change.
Developed specifically for people living with rare disease disability, their families and supporters, this nationally co-designed toolkit can help when NDIS access and eligibility are being considered. This important toolkit explains NDIS terms, how to describe the condition and support needs, and how to gather appropriate evidence. It also includes a checklist and guidance for health professionals preparing letters and reports.
Use the Rare Disease Disability Toolkit for the NDIS →
Co-designed with people living with rare disease disability and facilitated by Rare Voices Australia.
Australian Government reforms may change how some younger children and families access early support. These arrangements are still developing. Check current government information before relying on eligibility, commencement dates or pathway details.
Families do not always begin with a diagnosis or think of what they are noticing as disability. They may simply notice that their child is developing differently, finding some parts of daily life harder or needing more help than other children their age.
Support can be explored based on what is happening now, even while the family is still looking for answers or deciding what language feels right.
Where support may begin
Possible starting points include early childhood services, school or education supports, a GP or paediatric service, allied health professionals, disability services and family support organisations. Ask what assessment, communication support, adjustments or practical assistance can be put in place while investigations continue.
Involving the child or young person
Children and young people should be addressed directly and included in conversations and decisions in ways that work for them. This may involve accessible information, communication tools, extra time or support from someone they trust.
Belongside Families is an independent, family-led organisation supporting families raising children with disability, developmental delay, autism, medical complexity, or rare and genetic conditions. Its free support includes parent groups, one-to-one support, workshops, webinars, community connection and practical resources.
Explore Belongside Families information and support →
Online and in-person programs are available. Check individual programs for current locations and eligibility.
ACD is a family-led Victorian advocacy and information service for families of children aged 0 to 18 with any type of disability or developmental delay. Its free support includes practical information, workshops, peer support and a telephone support line to help families understand their child’s rights and advocate for the support they need.
Explore ACD information and support →
Available to families in Victoria.
Kiind is a family-led organisation supporting families raising children with disability, autism or developmental delay in Western Australia. Its free services include peer navigation, practical information, emotional support, help finding services and connection with other families.
Explore Kiind support for families →
Available to families in Western Australia.
CYDA is the national representative organisation for children and young people with disability aged 0 to 25. It provides practical and accessible information about rights, inclusion, education, the NDIS and major life transitions, along with opportunities for young people and families to contribute to advocacy and policy.
Explore CYDA information and resources →
Available across Australia.
MyTime groups give parents and carers space to meet others who understand, share experiences and take some time for themselves. Groups are for parents and carers of children under 18 who need more care than other children because of disability, developmental delay, a chronic medical condition or other additional needs.
ENVISAGE is a free program for parents and carers of children aged 0 to 8 with developmental concerns, disability, delay or autism. It brings families together to explore their child’s strengths, work with professionals, make choices that fit family life and build confidence in supporting their child’s development. No diagnosis or referral is needed.
Resources for siblings growing up with rare disease disability
The RARE Portal brings together information and practical resources for families supporting siblings of children living with rare disease disability. It includes information about sibling wellbeing, family relationships, peer support, counselling and programs for siblings and young carers.
Explore resources for siblings →
From Rare Voices Australia’s Rare Awareness Rare Education Portal.
Moving into adult services can change who provides care, how appointments are organised and how much responsibility the young person takes on.
A transition plan can help clarify:
Explore transition planning resources →
Disability and support can look different across adult life. You may have lived with disability since childhood, developed symptoms later, received a diagnosis as an adult or be returning to specialist care after a long gap.
Your support should reflect what matters to you now. You should be included in conversations and decide who else you want involved.
Explore workplace adjustments through JobAccess →
Explore aged-care services through My Aged Care →
Find independent aged-care advocacy through OPAN →
Changes later in life may be related to the condition, treatment, disability, ageing or a new health issue. A GP or treating team can assess new or worsening symptoms.
The support available from partners, parents or other family members may also change as everyone grows older. Planning should begin with the wishes of the person with disability and should not assume that another relative will take over.
Partners, parents, adult children, siblings, relatives and friends may provide significant emotional, practical or personal support. Some identify as carers. Others think of themselves mainly as a partner, parent, sibling, child or friend.
Support may still be available whether or not the word carer feels right. Caring can include coordinating appointments, services or paperwork; helping with transport, medicines, equipment or daily activities; supporting communication and decision making; providing supervision or being available when circumstances change; and offering emotional support.
Family roles can change over time, particularly as parents and partners grow older. Planning should consider what each person wants, what they can realistically provide and where their boundaries are.
Counselling, coaching, peer support, practical assistance and respite pathways for unpaid carers. Eligibility applies to some services.
Information, connection and programs for siblings of children and adults with disability or illness.
Information and support pathways for people under 25 who support a family member.
Resources for siblings growing up with rare disease disability
The RARE Portal brings together information and practical resources for families supporting siblings of children living with rare disease disability. It includes information about sibling wellbeing, family relationships, peer support, counselling and programs for siblings and young carers.
Explore resources for siblings →
From Rare Voices Australia’s Rare Awareness Rare Education Portal.
If you or the person you support has an intellectual disability, information may need to be provided differently. Easy Read, Easy English, pictures, communication aids, additional time or support from someone trusted may help with understanding information, preparing for appointments and taking part in decisions.
Accessible health information for people with intellectual disability, families, supporters and health professionals.
A Medicare-supported annual health assessment with a GP can help identify health needs that may otherwise be missed. The free Comprehensive Health Assessment Program, known as the CHAP, can help the person, their supporters and GP prepare for the assessment.
Information and resources about mental health and intellectual disability for people with intellectual disability, families, supporters and health professionals.
Information and support need to make sense to you and work for the way you communicate. You may prefer translated information, Easy English, an interpreter or support from someone you trust.
For important or private conversations, you can ask for a qualified interpreter. This means a family member or friend does not have to interpret or carry the responsibility for getting every detail right.
Translated and Easy English disability information for culturally and linguistically diverse communities.
Qualified interpreters can support accurate and confidential communication. Eligible private medical and allied health practitioners can use TIS National’s Free Interpreting Service.
Finding support may be easier when services understand your community, culture and circumstances. Aboriginal and Torres Strait Islander people with disability and their families may prefer to seek information, advocacy or healthcare through Aboriginal-led organisations and community-controlled services.
A national organisation led by and for Aboriginal and Torres Strait Islander people with disability, their families and communities.
The Integrated Team Care program may help Aboriginal and Torres Strait Islander people living with complex chronic conditions access services and coordinate their healthcare.
Understanding does not always depend on sharing the same diagnosis. People may connect through a symptom, disability, genetic finding, culture, location, life stage or family experience.
Our Financial and practical support for daily life page includes information about government payments, support for unpaid carers, concession cards, travel and everyday access schemes.
Some rare conditions begin or change quickly. Changes in movement, strength, communication, thinking, energy or daily activities can mean that existing support, equipment or routines no longer fit.
When this happens:
After a hospital stay, changes made in hospital may not automatically reach community providers. A discharge summary or updated care information can help clarify what has changed and who is responsible for the next step.
Medical assessment and practical support may need to happen at the same time. Rapid change can also affect emotions, relationships, work and plans for the future.
This page has been shaped by GAA members and people with lived experience of rare, genetic and undiagnosed conditions.
It provides general information and selected starting points. GAA is not a disability service provider, NDIS adviser or healthcare provider. Services and eligibility requirements vary, so current information should be confirmed with the relevant service.
