Undiagnosed Children's Day 2023
Approximately 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.
Undiagnosed Children’s Day is observed annually on the last Friday of April, with the aim of raising awareness of the thousands of children affected by rare or undiagnosed genetic conditions. These conditions can have a significant impact on the children themselves and their loved ones; with many children facing physical, emotional, cognitive or behavioural challenges.
To mark the day, we asked our some of our Sounding Board Members to Reflect on their own experiences:
“I’ll never forget our daughter’s geneticist telling us that one day they’d find out what genetic condition she had. It took 12 years in the end! He spotted various apparently unconnected things about her that he was convinced would eventually lead to a diagnosis. He took photos of her face, hands, feet. Her DNA was sent as far away as Holland and Canada. He explained how rapidly genetic research evolved. We were eventually told that she had Coffin Siris Syndrome related to the Arid 1A gene. Nothing changed about our lives or hers. We just had the final piece of the jigsaw to explain her short stature, unusual shaped feet, short fingers, learning difficulties, kidney and bowel issues. It was a long journey; and all along the way we felt well supported by her geneticist and the team around him. She used to visit them once or twice a year to have DNA taken (via countless blood donations and one skin sample). Sometimes, she sailed through the procedures, sometimes she needed to be supported by everyone in the unit if she was not in the right mood to have her blood taken! Everyone was so patient! We now have open access to the unit and counsellors as required.”
–Phillipa Williams , GPW Sounding Board Member
SWAN UK endeavour to raise the profile of children living with such conditions whilst supporting and bringing together families affected.
For more information on the SWAN UK, visit their website