Holly
News Stories
Imagine the symptoms of autism, cerebral palsy, Parkinson’s disease, epilepsy and seizures and anxiety disorder… all in one little girl.
Holly was born a healthy baby girl, however by one year of age, she noticeably stopped progressing in her development. She wasn’t able to crawl, and her speech was delayed. After 2 years and a lot of tests, Holly was diagnosed with Rett syndrome.
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. Girls 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 syndrome rarely reach adulthood, with 15% losing their lives by age ten.
Holly’s medical schedule is relentless; she 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 her parents to perform therapy with Holly on a regular basis at home. Holly requires 24-hour supervision, which impacts her 9 and 11 year-old sibling as they have to assist with Holly’s supervision. Family outings and holidays are extremely difficult.
To understand more about the disorder and to have a cure for Rett Syndrome would improve Holly’s life beyond measure. A leading expert on Rett syndrome 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 more than 12 years studying the pathogenic mechanisms of Rett syndrome.
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. Part of this journey is identifying disease biomarkers for clinicians to use as part of the diagnostic testing process for Rett syndrome as well as to measure disease improvement, progression, stage and severity in the girls. In addition, and most critically, these biomarkers will also be adopted by medical research scientists and pharmaceutical companies as a reliable measure of disease improvement in clinical trials, enabling new effective treatment options to enter the clinic for girls with Rett syndrome.
Find out more about Luminesce Alliance Rett Syndrome Research: