When a child may have a rare genetic condition, families can be left navigating unfamiliar information, difficult decisions and complex support systems. Answers may come quickly, take years, remain uncertain or lead to a diagnosis so rare that little information is available.
There is no single genetic journey. Families may encounter different questions at different times, and not always in a clear order.
This four-part series explores some of those points along the way:
Watch the full series or start with the session that feels most relevant to your family.
This session is for families beginning to explore whether a child’s health or development could have a genetic cause.
A senior genetic counsellor and a parent with lived experience discuss signs that might lead a family or health professional to consider a genetic explanation, how to raise questions with a doctor, what testing may involve and how to prepare for what comes next.
Kathleen LaMarquand, Senior Genetic Counsellor
Kim Bowan, Parent advocate
Could it be genetic?
Learn about some of the reasons a genetic explanation may be considered and where to begin.
Receiving genetic test results can bring new terminology, uncertainty and questions about what the findings mean for a child and their family.
In this session, a clinical geneticist and a parent with lived experience discuss different types of genetic test results, what a result may and may not explain, when further advice might be helpful, and the practical and emotional experience of receiving results.
Dr Alan Ma, Clinical Geneticist
Maya Pinn, Parent speaker
After testing: what now?
Learn more about different kinds of genetic test results, possible next steps and where to find support.
Not every genetic testing journey leads to a diagnosis. Some families receive a result whose meaning is uncertain, while others continue without an explanation for their child’s health or development. A test that does not identify a cause does not necessarily rule out a genetic explanation.
You do not need a diagnosis to contact Genetic Alliance Australia. We can help you find relevant information, explore possible sources of support and connect with the wider rare and undiagnosed community.
Following a genetic diagnosis, families can find themselves navigating several systems at once, including healthcare, hospitals, the NDIS and other family supports.
In this session, experienced navigators and a parent with lived experience share practical guidance on preparing for NDIS planning meetings and reviews, coordinating care and working with different professionals and services.
Lauren Buck, NDIS Navigator, Mito Foundation
Nika Kulaweera, Clinical Nurse Specialist, Sydney Childrens Hospital Network
Helen Johnson, Parent mentor and advocate
Find information and support
Explore condition-specific organisations, disability and family supports, genetic counselling services and other practical resources.
A diagnosis can change how a family thinks about the future while raising questions that may not yet have clear answers.
In this session, a clinical geneticist and a consumer research expert discuss research, preparing for a child’s longer-term needs, and the different ways families can contribute to advocacy and change.
Dr Emma Palmer, Clinical Geneticist, Sydney Children’s Health Network
Kris Pierce, Consumer Research Expert, Founder SC2NA Australia
Research and advocacy
Learn more about how Genetic Alliance Australia works with communities, researchers and sector partners to improve genetic and rare disease care.
Watching a webinar may answer some questions and raise others.
Genetic Alliance Australia can help you find reliable information, connect with a condition-specific organisation where one exists, and explore other sources of support. We also support families who are still seeking answers or whose condition is so rare that there may be no established organisation or community in Australia.
Our Genetic Health Navigator can help you think through your questions and possible next steps.
Genetic Alliance Australia is a community-based charity. We do not provide genetic testing, interpret individual test results or replace advice from your healthcare team.
How Genetic Alliance Australia can help →
These webinars provide general information and are not a substitute for individual medical, genetic, legal or financial advice. Information, services and available pathways can change over time. Speak with an appropriately qualified health professional about advice for you, your child or your family.
Webinars recorded: 2025
Page last reviewed: September 2026