Imagine the symptoms of autism, cerebral palsy, Parkinson’s disease, epilepsy and seizures and anxiety disorder… all in one little girl.
Rett syndrome is a devastating neurodevelopmental disorder, affecting mostly girls. It is caused by random mutations in the MECP2 gene.
Though these girls may appear healthy at birth, symptoms begin to emerge between six and eighteen months of age, causing problems with coordination, language and movement. Patients with Rett syndrome are unable to talk, walk, self-feed, toilet, or use their hands purposefully. They often have seizures, breathing difficulties, and tracheotomies. Sadly, girls affected by Rett rarely reach adulthood, with 15% losing their lives by age ten.
Though it may be a little-known condition, over 400 girls across Australia are living with Rett syndrome. It affects 1 in every 10,000 girls worldwide, representing a significant burden of disease upon thousands of families.
But thanks to advances in gene therapy research, researchers at the University of Sydney are close to finding a genetic cure for Rett – a cure that will greatly improve the wellbeing and life expectancy of these precious ‘silent angels’.
The power of gene therapy
Gene therapy is a new and rapidly evolving field of research which is already being used to treat diseases including spinal muscular atrophy and ‘boy in a bubble’ disease. These exciting clinical results are opening doors to other disorders such as Rett syndrome.
A leading expert on Rett at the University of Sydney, Dr Wendy Gold, believes there is a chance that gene therapy could provide the desperately needed cure for Rett Syndrome.
Dr Gold is an academic at the University of Sydney, Children’s Medical Research Institute and Kid’s Research at the Children’s Hospital Westmead. She has devoted close to 10 years studying the pathogenic mechanisms of Rett syndrome.
Dr Gold believes that, gene therapy has the potential to override the effects of the disease – restoring the normal function of the MECP2 protein, and effectively curing the patient.
Though Dr Gold’s team has already made substantial progress toward their goal of developing a clinically successful gene therapy for Rett syndrome, there is still a significant journey ahead.
“Rett Syndrome not only affects the girls who have the genetic mutation, but it also has a detrimental impact on the health and wellbeing on parents, siblings, and extended family and friends. I know this from personal experience – because my beautiful 7-year-old daughter, Holly, was born with Rett.
Her medical schedule is relentless – Holly has on average 4-5 appointments a week, 3 therapy sessions, plus additional medical or resource appointments. To see results with therapy, this also requires us to perform therapy with Holly on a regular basis at home. Holly requires 24-hour supervision, which impacts my two other children as they have to assist with Holly's supervision. They often miss out on precious time with myself and my wife due to the time we have to spend with Holly. Family outings and holidays, and time with my wife, become extremely difficult. To have a cure for Rett Syndrome would improve Holly's life beyond measure. Not only this, it would give my wife and I time back with our other children, time as a couple, and time to do things together as a family. Any donations toward this vital research bring us a step closer to a cure, and to a transformed life for me, my family, and hundreds of families around Australia.”
- Brett Anslow, Holly's Dad
Please help give these ‘silent angels’ a voice
Your generosity will help boost this vital research—currently led by Dr Wendy Gold—bringing us closer to a successful therapy within Holly’s lifetime.
Please help us improve survival and long-term health outcomes for children with Rett Syndrome.