A Lutton family will be marking Undiagnosed Children’s Day on Friday after receiving invaluable support from the organising charity.
Laura Casey is mum to Rosie (7) and Elsie (2). Elsie is about four or five months behind where she should be developmentally.
Soon after birth she was taken into the neonatal intensive care unit with breathing difficulties.
“They started noticing things like she’s got odd looking feet and her hands aren’t quite right,” said Laura.
Months later, Elsie still has not been diagnosed and Laura has benefited from the supoprt of the Syndromes Without A Name (SWAN) support group, where she is able to talk to other parents with undiagnosed children online.
Elsie has no been referred to the 1000,000 Genomes Project, which will collate genetic codes of around 70,000 people with rare illnesses before creating a new genomic medical service for the NHS at Addenbrooke’s Hospital in Cambridge.
The results from the project will provide the best hope of finding a diagnosis for Elsie’s condition.
Around 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare that it is often impossible to diagnose.
SWAN is hoping Friday’s Undiagnosed Children’s Day will provide a platform to make their support more accessible to families who feel they have nowhere to turn.
Supporters are being asked to use ‘detective tools’ published at www.undiagnosed.org.uk and post selfies on social media with a prompt to donate £3 to SWAN and use the hashtag #undiagnosed.
• Visit .www.undiagnosed.org.uk for more information.