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Press releases

Undiagnosed Day 2022 

6,000 children born every year with a genetic condition likely to remain undiagnosed condition so rare it doesn’t have a name

Can you imagine having a child with a condition so rare it doesn’t have a name?  With 6,000 children born every year with a genetic condition likely to remain undiagnosed, this is the reality for many families in the UK.

Families affected by a syndrome without a name face living with no answers to a myriad of questions, such as:  Will my child walk? Will they talk? Will they have a shorter life expectancy? Will our future children be affected?

SWAN UK’s Engagement and Support Manager, Isabel Rundle says: ‘Despite the advances in genomics, there are still thousands of families every year who start their journey into the unknown with no diagnosis.  As some conditions are so rare many will still wait a long time for a diagnosis and without a name for a condition families struggle to access support and information they desperately need. Many undiagnosed children have profound and complex needs and some will die young.

‘Families affected by a syndrome without a name share feelings of isolation and fear for what the future holds.  SWAN UK brings families together who would otherwise be alone in their journeys. This Undiagnosed Children’s Day we want families who haven’t yet found us to know there is a place for them.’

Allison Rose who features in a video launched for Undiagnosed Children’s Day says: ‘A diagnosis would be important for my own piece of mind, to meet other families going through the same thing and to be able to look to the future more.’

On Friday 29 April 2022, Undiagnosed Children’s Day, SWAN UK will be highlighting the challenges that families face and calling on people to help us reach out to all the families that need support. 

6,000 children born every year with a genetic condition likely to remain undiagnosed condition so rare it doesn’t have a name

About Undiagnosed Children’s Day

Undiagnosed Children’s Day is a nationwide event to raise awareness of children with undiagnosed genetic conditions, also known as syndromes without a name

About SWAN UK

SWAN UK, run by the charity Genetic Alliance UK, is the only dedicated support network for families affected by an undiagnosed condition in the UK.

Press enquiries

To arrange an interview with one of our case studies email: info@undiagnosed.org.uk.


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