Syndromes Without A Name (SWAN) : Why are so many children still undiagnosed?

It is estimated that as many as 30-50% of disabled children may not have a diagnosis that explains the cause of their difficulties.  This means their families have no idea what the future holds.

Many of these children may have a range of difficulties such as global developmental delay, epilepsy or feeding problems which suggest to doctors there is an underlying genetic syndrome causing them.  For some children doctors will be able to discover what this is. Other children may have test after test but the cause of their difficulties cannot be discovered. This is often because the syndrome they have is very rare or perhaps never seen before.

 There can be different types of diagnoses.  It is easiest to think about there being 3 levels:

  • The presenting problem: This means the reason there are concerns about a child, i.e.  they cannot roll over or they are haven’t started talking yet.
  • The clinical diagnosis: This describes the difficulties a child has.  This might be something like ‘learning disabilities’.
  • The genetic diagnosis: This pinpoints the underlying cause of a child’s difficulties. For example they are globally developmentally delayed because they have Down syndrome due to trisomy 21 (an extra chromosome 21).

Some children may have a clinical diagnosis like learning disabilities but are still undiagnosed because they don’t have a genetic diagnosis.  Children who are suspected to have an undiagnosed genetic condition are sometimes referred to as having a ‘Syndrome Without A Name’.  This is often abbreviated and referred to as ‘SWAN.’  SWAN is not a diagnosis and does not refer to one specific syndrome – in fact the children are likely to all have different syndromes.

Many families of children with undiagnosed genetic conditions however choose to refer to their children as ‘Swan’ children.  This is because it gives them a sense of being part of a community and can be easier than explaining what is meant by their child being ‘undiagnosed’.

SWAN UK is a project run by Genetic Alliance UK offering support and information to families of children with undiagnosed genetic conditions.