In the UK 6,000 children are born every year with a genetic condition likely to remain undiagnosed.

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? Foe families across the UK, these questions are their reality.

Friday 29th April marks Undiagnosed Children’s Day, and to mark the important day St George’s Consultant in Genetics, Frances Elmslie, spoke to the charity SWAN UK (Syndromes Without A Name):

‘If you don’t have a diagnosis, then you never have that potential opportunity for a specific treatment that we might be able to develop through molecular diagnostic knowledge.

‘You can still treat the individual elements of that condition. For example, if you had a child who had congenital heart disease, you could treat congenital heart disease. But people are denied the opportunity to have a potential targeted treatment’.

Allison Rose is the mother of brothers Morgan and Jayson who share an undiagnosed syndrome. She joined St George’s Dr Frances Elmslie, who has worked with the family to find a diagnosis for years, for a video for Undiagnosed Children’s Day. Alison shared:

‘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.’

SWAN UK supports families affected by a syndrome without a name. Their network brings families together in a supportive community who understand the unique challenges of life without a diagnosis. They run fun events for the whole family, provide information through newsletters and have an extensive network of volunteer Parent Reps.

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 sadly 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.’

The full video SWAN UK for Undiagnosed Children’s Day can be found here.