There can be many reasons for health or developmental concerns, and genetics may be one part of the picture. You do not need to know whether genetics is involved before talking with a healthcare professional about what you are noticing, asking questions or seeking further assessment and support.
A genetic condition may be inherited from a biological parent, but it can also result from a genetic change that occurred for the first time in a person. This means genetics can still be relevant even when no one else in the family is known to have the same condition.
Most rare conditions have a genetic cause, but not every genetic condition is rare.
Start with what you have noticed, what has changed and how it is affecting everyday life.
It can be hard to explain what you are noticing, especially when symptoms come and go, seem unrelated or are difficult to describe. You may also be unsure what is important to mention or worry that your concerns will not be taken seriously.
Many health or developmental differences are common on their own. What can be useful is noticing whether there is a pattern, whether things have changed over time, or whether several concerns seem to be occurring together.
This step helps you organise your thoughts so you can explain them clearly to a healthcare professional.
Recognising one or more of these features does not mean that a genetic condition is present. They are things that may be useful to discuss with a healthcare professional as part of the broader picture.
For someone who communicates differently or without speech, pain or illness may show through changes in sleep, appetite, communication, behaviour or taking part in usual activities. New changes should not automatically be assumed to be part of their disability or behaviour and are worth noting.
A new or sudden decline in existing skills or abilities should always be assessed promptly.
You may have noticed something about your child’s health, development or behaviour but find it difficult to explain exactly what concerns you. Sometimes there is one clear difference. Other times, it may be a number of smaller things noticed over time, or observations from home, early learning, school or healthcare that do not yet seem to fit together.
Start with the whole picture. Note strengths as well as concerns, and what seems to be changing or affecting everyday life.
Think about what comes easily, what they find harder, how it affects everyday life and what seems to help.
When did you first notice it? Does it happen all the time or come and go? How long does it last, and is it becoming more noticeable, improving or changing?
Does it happen mainly at home, early learning or school, or across different settings? Does anything seem to bring it on or make it worse?
Where possible, include what your child or young person communicates about what feels difficult, uncomfortable or important to them.
Movement and coordination · Communication · Play and social interaction · Learning · Behaviour and emotional regulation · Feeding · Sleep · Growth · Hearing and vision
You do not need to work through every area. These are simply prompts for thinking about the broader picture.
You do not need medical language. Examples can sometimes communicate more clearly what you are seeing. Try to be as specific as possible.
“I’m concerned about my child’s development.”
“At 10 months, they need support to sit and can only stay upright on their own for a few seconds.”
Health and development records, school or early learning observations, therapy reports and previous healthcare reports can help show the broader picture.
A short video can sometimes help show what is happening, if it can be recorded safely and doesn’t delay seeking care.
Health and developmental differences can emerge gradually, change over time or have many possible explanations. Sometimes it is only when observations from different times or settings are considered together that a broader pattern begins to emerge.
Keeping track of what you and others are noticing can help build a clearer picture of what may be worth exploring further.
You may be trying to make sense of symptoms, differences or changes in your own health. Sometimes there is one clear concern. Other times, there may be several things happening that seem unrelated or have never been fully explained.
Symptoms may have been present for a long time, considered separately by different healthcare professionals, or investigated without a clear explanation. Sometimes a broader pattern only becomes apparent when these experiences are considered together.
Think about the broader picture, including symptoms that may occur together, changes over time and things that may previously have been considered separately.
What are you experiencing? Are there symptoms or differences that seem to happen together, even if they have previously been considered separately?
When did you first notice it? Does it come and go or follow a pattern? How often does it happen and how long does it last? Does anything seem to bring it on, make it worse or help, and how long does it take to recover?
Consider how it affects work, study, relationships, mobility, communication, caring responsibilities, personal care or other everyday activities.
Longstanding health, developmental or learning differences may also be relevant, including things that began in childhood or have previously seemed unrelated.
Previous investigations, diagnoses, treatments or specialist reviews can provide useful context, including whether they explained what was happening or helped.
If you have them, copies of relevant results, specialist letters or reports can help a healthcare professional consider the broader picture.
You do not need medical language. Where you can, use a specific example of what happens and how it affects you.
“Sometimes my legs feel weak.”
“About twice a month, my legs become weak and I struggle to climb stairs. The episodes usually last several hours.”
Health concerns are often assessed one at a time or by different healthcare professionals. Sometimes a broader pattern only becomes apparent when symptoms, previous investigations and earlier health or developmental differences are considered together.
You do not need to work out how the pieces fit. Bringing the information together can help a healthcare professional consider whether anything further should be explored.
Bringing together what you know about health conditions or patterns among relatives who share a genetic connection can sometimes provide useful clues.
Some family health information may be uncertain, incomplete or unavailable. That is okay. You can include what you know and leave the rest as unknown.
When considering whether a condition could be inherited, healthcare professionals may ask about relatives who share a genetic connection with you or the person you support. This may include parents, children, siblings, half-siblings, grandparents, aunts, uncles, nieces and nephews.
Family history can provide useful clues, but it cannot confirm or rule out a genetic condition on its own. Some genetic conditions occur for the first time in one person, while similar health concerns within a family can also have non-genetic explanations.
Learn more about collecting Family health history from Healthdirect Australia
Prepare for the conversation, including what you want them to understand and the questions you want to ask.
A GP can look into common or treatable causes, arrange initial tests and refer you for further assessment if needed.
Some genetic tests can be requested by a GP, while others need to be arranged through a specialist or clinical genetics service.
Talk with them about what you are noticing, even if some symptoms seem unrelated to the condition or area they are treating.
Your specialist may be able to arrange genetic or genomic testing, or refer you to a clinical genetics service if further assessment is needed.
If something is unclear, it is okay to ask for it to be explained again or written down before you leave.
If you are being referred to a Genetics Service you can ask what will be included in the referral and request a copy of the referrals for your records.
You can also ask for copies of relevant results and the agreed plan.
Healthdirects Australia’s Appointment Question Builder may also help you prepare and prioritise questions.
Depending on what your GP or specialist finds, the next step may involve one or more of the following:
Keeping an eye on symptoms or changes over time and agreeing when to review them.
A closer assessment of particular symptoms, development or how things are affecting everyday life.
Tests such as blood tests, imaging or other investigations to look for possible explanations.
Referral to another specialist or service, which may include a clinical genetics service if appropriate.
If genetic assessment, testing or referral is being considered, you can learn more about this stage in Seeking a Genetic Diagnosis or Answers.
Even if there is no clear answer today you can can still agree on what happens next and what support can be put in place now.
This might include:
You could ask:
“Can we agree on when and how we will review this, and what should prompt me to come back sooner?”
Our understanding of rare genetic conditions continues to grow. Some signs or symptoms may develop or become more apparent over time. It’s always ok to check back in if you are worried.
You do not always need to wait for a diagnosis to get help with the symptoms or challenges you or your child are experiencing.
Support might include:
You may also find these pages helpful:
You may already be keeping notes, chasing referral letters, getting to appointments and telling the same story again.
If the uncertainty or the work of looking for answers is affecting how you are feeling, our Mental health and emotional well being page includes support shaped around rare and undiagnosed conditions.
These resources provide additional background if you would like to explore further.
Move to another journey stage whenever it is more relevant to you.
Seeking a Genetic Diagnosis or Answers
