Who knew about 22q?

22q11.2 Deletion Syndrome is a genetic disorder which is now known to be almost as common as Down’s Syndrome, with estimations of 1 in every 1000 babies being affected. However, this figure is expected to be higher as many cases go undiagnosed.

Jade Vowles, a Broadcast Journalism student at Nottingham Trent University, has a personal connection to 22q after the death of her friend Jessica Fielding at the age of 20. Jessica had 22q11.2 Deletion Syndrome and her father, Ian, said she experienced bullying from a young age as people could tell she was different. Inspired by her friendship with Jess, Jade decided to create Who knew about 22q?, a short documentary about the condition, in an effort to raise awareness and lessen the stigma around 22q.

Watch the documentary

Who knew about 22q?, a short documentary

As well as interviewing several people living with 22q and their families, Jade also paid a visit to the The ECHO study team, based at Cardiff University's Hadyn Ellis building. The ECHO study researches micro deletions and duplication’s to understand the psychological effects that 22q has on individuals.

Sam Chawner, a researcher in the ECHO study, explained: “We’re particularly focusing on the mental health aspect, as so many individuals with 22q can have learning difficulties, autism, ADHD, anxiety, mood difficulties, and psychosis and we want to understand more.”