About syndromes without a name (SWAN)

SWAN stands for syndromes without a name. It’s a term the doctors might use when a child has symptoms of a genetic condition, but these symptoms can’t yet be diagnosed.

Children with SWAN can have a range of symptoms including developmental delay, learning difficulties and physical disabilities. Symptoms vary from child to child and can be severe or mild. How much symptoms affect children’s lives also varies from child to child.

SWAN is not a formal medical diagnosis.

Causes of syndromes without a name (SWAN)

Doctors think that most syndromes without a name (SWAN) are caused by changes in a child’s genes, which affect how the brain or body functions.

When genetic conditions can’t be diagnosed: syndromes without a name (SWAN)

When doctors think that a child’s symptoms might be the result of a genetic change, they recommend genetic testing to look for abnormalities or changes in the genes. This helps doctors to identify the condition and decide how best to care for the child.

They might also recommend genetic testing for parents to see whether there are any clues to diagnosis in the parents’ genes.

If genetic testing can’t find the cause of symptoms and doctors can’t identify the cause any other way, they might say that a child has a syndrome without a name (SWAN).

Why are children not diagnosed?

There are a few reasons why children with genetic conditions can’t or don’t get diagnoses:

• When a child has a rare or unique combination of symptoms, it can be hard to make a diagnosis. Also, symptoms of genetic conditions often overlap, which makes it hard to diagnose or recognise them.
• A child’s symptoms might be different from what doctors usually see in children with more easily diagnosed genetic conditions.
• A child might have a condition with some features that don’t appear until they’re older, so doctors can’t make a diagnosis until later in the child’s life.
• A child might have an extremely rare condition, which has not been seen by many doctors.
• Many rare conditions don’t have diagnostic tests available because the genes causing the condition have not yet been identified.
• The condition itself might not yet have been discovered. New genetic conditions are still being discovered as new technologies are developed.

Living with syndromes without a name (SWAN)

If your child hasn’t had a diagnosis for their condition, it’s important for them to keep seeing the GP or paediatrician. Your child’s doctor can keep track of your child’s health and developmental changes, which might offer clues for a diagnosis as your child gets older. Your doctor can also suggest treatments or therapy for your child’s symptoms, even if you don’t have a diagnosis.

Also, genetic testing, treatments and technology are getting better all the time, so geneticists recommend a consultation every year, particularly when your child is young.

If your child has a syndrome without a name, it’s easy to get caught up in supporting their needs. But it’s important to look after your own wellbeing and get support for yourself too. If you’re physically and mentally well, you’ll be better able to care for your child.

Support for children who have syndromes without a name (SWAN)

You and your child might like to see a genetic counsellor. Genetic counsellors can:

• give you genetic counselling and information about your child’s situation
• help you understand why your child might not have a diagnosis
• guide you through your options for further testing
• refer you to support services like psychologists, social workers, support groups or family therapists.

Some children with SWAN will be eligible for support from the National Disability Insurance Scheme (NDIS). Your child’s eligibility will be assessed in relation to any developmental delay or physical disability rather than on the basis of a SWAN diagnosis.

Tips for parents of children with syndromes without a name (SWAN)

Parents of children with syndromes without a name (SWAN) have found the following tips helpful:

• Speak to parents of other children with SWAN. You can connect with people in similar situations by joining a face-to-face or online support group. Visit SWAN Australia – Support For Your Family for details of support and information services.
• Ask for help if you need it. Start by speaking to your GP or counsellor if you need support.
• Keep a record of your child’s appointments, referrals and test results. Make sure your GP has these records as well.
• Remember that you are your child’s best advocate. Focus on the positives, and try not to compare your child to other children.
• Don’t give up hope. It might be possible to get a diagnosis later in your child’s life.