Eleven-year-old Elsie Morton, was diagnosed with Velo-Cardio-Facial Syndrome (VCFS) when she was just two years old. The syndrome can cause significant abnormalities in child development such as immune system deficits, kidney problems, learning and behavioural difficulties and speech delays. Elsie has already had two open-heart operations and will need further heart surgery in the future.
Donations from the community are helping people like Elsie by funding leading research at Mater Medical Research Institute (MMRI).
MMRI researchers have identified three mitochondrial genes key to improving treatment for sufferers of Velo-Cardio-Facial Syndrome (also known as 22q11.2 Deletion Syndrome).
Patients like Elsie are contributing to Mater’s research into the condition through their involvement in Mater’s VCFS Clinic.
Lead researcher, Professor Francis Bowling, is using his team’s discovery to investigate new and improved ways to treat children which can reduce the severity of their symptoms.
“Many children with VCFS have an increased risk of seizures and psychological complications. We hope that this discovery of genes will enable us to improve their health outcomes into adulthood,” Prof Bowling said.
“We’re so grateful to Mater for the assistance we receive through the clinic—it is helping us to better understand Elsie’s condition,” Elsie’s mother Deb Morton said.