SWAN creating awareness of undiagnosed conditions

A project offering support and information to families of children with undiagnosed genetic conditions

SWAN UK (Syndrome Without A Name) estimate that 30-50% of children with severe learning disabilities and 50% of children in contact with NHS Regional Genetics Centres may never get a diagnosis to explain the cause of their difficulties. 

"Parenting a child with an undiagnosed genetic condition is tough. Many families are extremely isolated and their life is often made harder by the general lack of understanding that it is even possible for disabled children to be undiagnosed.  

"Without a diagnosis life can be very isolating," Roberts continued. "Families often feel like they don’t “fit in” and without a diagnosis it can be very difficult to answer questions about their child. 

"They don’t know what the future holds for their child – Will they walk? Talk? What will their life expectancy be? There are probably hundreds of parents,
grandparents and carers with children without a diagnosis out there feeling the same.

SWAN is a term used to describe disabled children who are thought to have a genetic syndrome or condition that doctors have so far been unable to identify. Many of these children have had lots of tests including blood tests, microarrays, lumber punctures, EEGs, ECGs and MRIs but they have all come back negative.

For more information follow @SWAN_UK on Twitter or visit www.undiagnosed.org.uk - berkshire@undiagnosed.org.uk 

 Reviewed January 2024