Undiagnosed: when there is no name for your child's condition

Many families expect genetic testing to give them an answer.

For some, it does. For others, the tests come back without one. The doctors believe the condition is genetic, but they cannot yet say which one.

If that is where you are, you are not alone. And not having a name does not mean your child cannot get support.

Quick answer: SWAN stands for "syndromes without a name". It is a term used when a child or young adult is believed to have a genetic condition, but testing has not found the cause. It is not a diagnosis. Many types of support are based on what a child needs rather than on a diagnosis, and for some children a diagnosis comes later as testing and knowledge improve. In the UK, SWAN UK is a free support community for families of children and young adults with undiagnosed genetic conditions.

What does SWAN mean?

SWAN means "syndromes without a name". In the UK, the term is closely linked with SWAN UK, a support community run by the charity Genetic Alliance UK.

It describes a child or young adult who is believed to have a genetic condition where testing has not identified the genetic cause.

Children described as SWAN can be affected in very different ways. Many have developmental delay, learning or physical disabilities, or complex medical needs.

Why do some genetic conditions stay undiagnosed?

There are several reasons a genetic test may not find an answer.

• The change may be hard to detect. Some types of genetic change are not picked up well by current tests.

• The gene may not yet be linked to a condition. Scientists are still discovering which genes cause which conditions.

• The condition may be extremely rare. If only a handful of people in the world have it, it may not yet have been described.

• The cause may not be in a single gene. Some conditions are caused by more complex combinations of factors.

• The cause may not be genetic. Sometimes the cause turns out to be something else, which your child's team can talk through.

This is why a test that does not find a cause has not necessarily ruled one out. Your genetics team can explain what your child's result does and does not show. Our guide to whole genome sequencing explains what different test results can and cannot show.

You are not alone

Waiting for a diagnosis is common in rare disease. According to Genetic Alliance UK, it takes an average of 5.6 years to get a rare disease diagnosis in the UK, seeing 8 clinicians and receiving 3 misdiagnoses along the way.

For families who are still undiagnosed, that wait can feel open-ended.

Families often describe:

• explaining their child's needs again and again, without a name to point to

• not knowing what the future holds

• feeling that they do not quite fit in support groups for specific conditions

• uncertainty about what it might mean for other children in the family

All of these feelings are understandable. It can help to talk to others who have been there.

Getting support without a diagnosis

A diagnosis can open doors, but many kinds of support do not depend on one. They are based on what your child needs day to day.

• School support. In England, you do not need a diagnosis to ask for an education, health and care (EHC) needs assessment. Our guide to using your records for an EHCP or school support explains how.

• Disability benefits. Many benefits are based on care and mobility needs rather than a diagnosis. The charity Contact has a free helpline that can help you check what you might be entitled to.

• Health and care services. Therapies, equipment and care support are usually based on assessed needs.

When you do not have a diagnosis to explain things, clear, dated notes about your child's day-to-day needs become even more useful. Your own notes about day-to-day life can also be useful to share with your child's team whenever you see them.

Keeping the door open to a diagnosis

Genetics moves quickly. New genes are linked to conditions every year, and tests keep improving. Some children who are undiagnosed today receive a diagnosis later. For others, the cause is not found, and support still continues.

It can be worth asking your genetics team:

• Has my child's test data been reviewed again since the result?

• Will it be reviewed in future, and how would we find out?

• Are there other tests that might be suitable now or later?

• Are there research studies my child might be able to take part in?

• Who should we contact if something changes?

Our guide to preparing for a genetics appointment includes more questions and tips.

Connecting with other families

SWAN UK is a support community for families of children and young adults (aged 0 to 25) with undiagnosed genetic conditions. It is run by Genetic Alliance UK and is free to join for families in the UK. Families can connect online and in person.

Undiagnosed Children's Day takes place on the last Friday in April each year, to raise awareness of undiagnosed genetic conditions.

What to remember

• SWAN stands for "syndromes without a name". It is not a diagnosis.

• A test that finds no cause has not necessarily ruled one out.

• Many kinds of support are based on needs, not a diagnosis.

• It is worth asking whether and when test results might be reviewed again.

• SWAN UK is free to join for UK families with a child or young adult aged 0 to 25.

How Rarevia can help

Without a diagnosis, families often have to rebuild their child's story from scratch every time they see someone new.

Rarevia is being built so families can say or write what is happening, in their own words, and keep those notes organised in one place. Whenever you need it, a summary of how things are, recent updates and your questions are ready to share. Rarevia doesn't suggest what a condition might be, can't tell whether something is urgent, and isn't monitored.

If you are tired of starting from the beginning every time, join the waitlist and help shape Rarevia as it is built.

Sources and further reading

This article draws on information from Genetic Alliance UK and SWAN UK. It is general information, not medical advice. Your care team can tell you what applies to your child.

• Genetic Alliance UK: SWAN UK (syndromes without a name)

• Genetic Alliance UK: Undiagnosed Children's Day

• Contact: contact.org.uk