Families and doctors looking after children with a rare form of cerebral palsy, associated with a gene called ADCY5, have chanced upon a precision therapy that is making lives easier for these children. Last year when this experience was first shared by French doctors, word soon got out. The movement disorder team of Dr Shekeeb Mohammad and Prof Russell Dale are now guiding their current patients with this genetic disorder to trial caffeine.
At four-months-old, a virus led to a sudden change in Grace’s development. Grace was diagnosed with a mutation in the ADCY5 gene. A movement disorder that prevents her from independently sitting or standing.
After trialing this therapy with the movement disorder team, her father Adam described the results as amazing. “Grace can now feed herself a sandwich by herself. Play Duplo with her brothers. So it’s really wonderful.”
We collaborate with leading research groups around the world and conduct genetic testing for children with undiagnosed movement disorders across Sydney Children's Hospitals Network. If you're concerned about your child, talk to your GP who can refer you to our neurology services.
Photo credit: Grace, GoFundMe/7News