SWAN stands for ‘syndromes without a name’. It is not a diagnosis, but a term used when a child or young adult is believed to have a genetic condition and testing has failed to identify its genetic cause. Syndromes without a name are also referred to as undiagnosed genetic conditions, unknown genetic conditions or undiagnosed genetic disorders.
Some children people affected by a syndrome without a name might be described as having global developmental delay or failure to thrive. They might have learning disabilities and/or physical disabilities. They can sometimes have complex medical needs and epilepsy. Some children may not have any learning disabilities but be physically disabled whilst others are physically fine but have learning disabilities.
Children affected by a syndrome without a name can have a range of different symptoms and each child is likely to be affected differently.
Some of the other symptoms children might be identified as having include:
It can be really hard for families when they have no answer to the question ‘what is wrong with my child?’ or ‘why is my child always ill?’
There are three main reasons why a child’s genetic condition remains undiagnosed:
‘My son’s microarray showed changes but nothing they could see was responsible for his global developmental delay. Because there are so many changes in his chromosomes it seems likely that one of them is causing his difficulties but if there are any deletions they are too small to be identified. That basically leaves us in the position where we don’t have a diagnosis but we do know/suspect it is genetic.’
(SWAN UK Member)
Most people are surprised when they find out how long children or young adults can remain undiagnosed for – many families wait years for a diagnosis and some may never get one.
72% of SWAN UK members’ children are taking part in genetic research studies which are likely to take years to provide results.
It is estimated that 6,000 disabled children are born in the UK each year with a syndrome without a name.
Currently around 50% of children undergoing genetic testing in the UK won’t get a confirmed diagnosis. It is thought that about half (50%) of children with learning disabilities and approximately 60% of children with congenital disabilities (multiple disabilities which are apparent from birth) do not have a definitive diagnosis to explain the cause of their difficulties.