Obtaining a diagnosis for your child with disability

Key Points:

• Getting a diagnosis for your child with disability can be a bit of a journey for some families
• Examining genetics can be the key to finding a potential diagnosis, but it is a limited science and does not always offer a clear result
• If you do not initially receive a diagnosis for your child, there are other options you can take to get closer to a diagnosis

If you have a child with unexplained physical, behavioural or cognitive challenges, it’s natural to want to find out why and what is causing them.

Advocacy organisation Syndromes Without A Name (SWAN) Australia says a medical diagnosis can not only help explain your child’s condition, but it also offers treatment pathways to help you and your family access support for your child and plan for the future.

So if you do want to attempt to get your child diagnosed, what can you expect from the journey?

Signs your child may have a disability

Prior to the birth of your child, you have likely undertaken specific tests to see if your child has any biomarkers of a disability. For instance, you can have a prenatal test for Down syndrome.

However, if you give birth to your child without any of the tests indicating a disability or abnormality in your pregnancy, there are a number of ways to identify if your child has been born with a disability.

This includes:

• Unique facial features
• Missing developmental milestones
• Physical and cognitive delays
• Behavioural difficulties

If you notice these signs, you should meet with your General Practitioner (GP) to begin your search for a diagnosis for your child with disability.

This process may happen right away after birth if you notice signs of a disability, but can also occur later in their childhood when those signs become more prominent.

The first appointment

A diagnosis is achieved by examining your genetics, and this journey often starts with your GP or a child health nurse.

These health professionals can refer your child to a paediatrician or geneticist to conduct diagnostic tests.

The geneticist will examine your child and look at their full medical and family history, which can include taking photographs.

Your doctor or medical professional may then recommend genetic testing, genomic testing or other tests which may require a blood, saliva or urine sample.

But in Australia, it is estimated that 2,500 children are born with a syndrome without a name every year. While genetic testing is advancing rapidly, some children may never receive a diagnosis.

What is diagnostic testing?

Genes are the building blocks of our bodies and can help explain why a person presents with particular characteristics and features, determining everything from our eye colour to our Intelligence Quotient (IQ).

Humans have more than 20,000 genes that tell our bodies how to grow and function, each containing DNA made up of a four-letter chemical code. There are three billion codes that make up the human body.

Variations in these codes can indicate the presence of a health or developmental condition.

There are two broad categories of testing available – genetic testing and genomic testing.

Genetic testing examines one single gene to check for variations that may cause a particular condition. For example, if a child has a pattern of features consistent with a particular syndrome.

Genomic testing examines every gene simultaneously, providing a complete picture of a person’s genome or their “genetic map”. This may be required in more complex cases where doctors will be looking for gene changes amongst a patient’s chemical codes.

The waiting time for a public genetics appointment is typically six to nine months, but can vary between services.

The results

Once these tests have been completed, you may or may not receive a diagnosis.

If one or more gene changes (sometimes called a gene variant) are found, it may indicate your child has a genetic condition.

With that diagnosis, you can begin looking at early intervention and other supports for your child. You can find a variety of supports and services to assist your child with disability on DisabilitySupportGuide.com.au.

However, sometimes something may appear in the genetic testing but not result in a diagnosis, and this is where things can become difficult.

Specialists cannot diagnose my child, what now?

Genomic research is an evolving science, so there are some limitations that can prevent you from obtaining a diagnosis for your child.

However, your child’s data can be stored and re-examined at a later date.

One in ten diagnoses are made under re-examination, so it is worth asking for a referral back to a geneticist every few years.

Your doctor may also recommend follow-up testing and referrals to other specialists and support services.

You may also be eligible to be part of an Undiagnosed Disease Program or research program if your State or Territory offers these programs.

While there is currently no national Undiagnosed Disease Program (UDP), there are other initiatives to try and help you achieve a diagnosis for your child, including:

• POSSUMweb – Can increase the likelihood of your child receiving a diagnosis by consenting to have your child’s features and photos included in Australian genetic database POSSUMweb as either an undiagnosed or as a specific rare disease (if known), without specific identification information.
• RDNow in Victoria –Rare Diseases Now (RDNow) is a new initiative focused on delivering genomic diagnoses and precise, personalised care to children at The Royal Children’s Hospital (RCH), Melbourne. RDNow establishes pathways for children who remain undiagnosed after a genomic test to have the best chance of receiving a diagnosis and to access the latest clinical trials and treatments.

• Undiagnosed Disease Program (UDP) in WA –The WA UDP aims to provide a diagnosis for people with complex and long-standing medical conditions, mirroring the USA UDP model and utilising a multidisciplinary approach. The program currently only accepts one new patient per month and focuses on children with undiagnosed conditions.

Even you if you don’t receive a diagnosis, you can still access disability support or even the National Disability Insurance Scheme (NDIS) for assistance. You can learn more about applying to the NDIS in our article, ‘How to apply for the NDIS‘.

What has your journey been to finding a diagnosis for your child? Tell us in the comments below.

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The roller coaster of an autism diagnosis – Harry’s story
Caring for a teen with disability – Sabine and Monice
Accessing disability support without NDIS funding