About syndromes without a name (SWAN)

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

Children with SWAN can have a range of different symptoms including developmental delay, learning difficulties and physical disabilities. Symptoms vary 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 problems in a child’s genes.

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

When doctors think that a child has a genetic disorder, they might recommend genetic testing to look for abnormalities or changes in the 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 disorders 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 disorders 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 genetic conditions that are more easily diagnosed.
  • A child might have a condition with some features that don’t appear until he’s 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.
  • A child’s condition might not yet have been discovered by doctors. 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 her condition, it’s important for her to keep seeing your GP or paediatrician. Your child’s doctor can keep track of her 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 is continually changing, so geneticists recommend a consultation every few years, particularly when your child is young.

If your child has a syndrome without a name, it’s easy to get caught up in supporting his 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 psychologistssocial workers or family therapists.

Some children with SWAN will be eligible for support under 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 other parents of children with SWAN. It can help to connect with people in similar situations.
  • 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 with other children.
  • Don’t give up hope. It might be possible to get a diagnosis later in your child’s life.