Our charity partner Seeking a glimmer of hope

Our Charity Partner

Seeking a glimmer of hope

Meet Goldie, daughter to Simon and Cristina Digby and baby sister to Jasper and Portia.

Goldie is one of 40 children in Australia diagnosed with A-T. Ataxia telangiectasia (A-T) is a rare, incurable disease often described as the worst parts of cerebral palsy, muscular dystrophy, and cystic fibrosis, along with a severe risk of cancer and lung disease. Children like Goldie with A-T experience: • Loss of balance and mobility, confining them to a wheelchair by age 10 • No immunity from sickness, and prone to serious and potentially deadly infections • No coordination, making it difficult for them to read, write, or eat with other children • The need for a feeding tube to prevent aspiration to avoid lung infections. • A 1,000 times greater likelihood of cancer than the general population, without being able to receive standard treatment due to radiation sensitivity • Poor quality of life and social isolation • Limited lifespan, with few children living past 25. After learning of Goldie’s diagnosis, Simon and Cristina immediately sought information. They discovered BrAshA-T, a charitable foundation supporting research into a cure while creating a support network for other families dealing with A-T. BrAshA-T welcomed the Digbys with open arms, providing a wealth of information about this rare disease. They also introduced the family to Dr Martin Lavin, who shared information about a proposed clinical trial aiming to slow A-T’s progression until a cure is found. A-T usually sees kids confined to a wheelchair by the age of 8 or 10. If successful, the trial may help slow the progression of A-T to the point where they can avoid the wheelchair until their teens. Initial research undertaken by the Wesley Research Institute, has shown the use of a dietary fat supplement has the potential to significantly boost energy metabolism and improve neurological symptoms. In May 2020, Federal Health Minister, Greg Hunt granted funding of $2.46m for a 12-month trial for the 40 Australian Kids affected by A-T. Whilst this trial is focused on giving these children a better quality of life – it is not a cure. More funding is needed to continue treatment for children in Australia and to take the trial to these little A-T superstars globally. Goldie’s family are currently undertaking a fundraiser aimed to raise $200,000. By donating to the Wesley Research Institute’s quest for a cure, you can give hope to children like Goldie. To find out more about how you can help, please visit www.brashat.org.au •

Wesley Research Institute recently launched a clinical trial to investigate whether a dietary fat supplement could provide a potential treatment for slowing down the progress of the disease. According to Lead Investigator Professor David Coman, research has already provided evidence that A-T is partly a ‘mitochondrial disease’ and that all aspects of this defect could be corrected by the ‘liquid fat’ in A-T cells in the laboratory. Professor Coman’s research will investigate the use of a dietary fat supplement, which has the potential to boost energy metabolism and significantly improve neurological symptoms. This world first trial includes 40 children from around Australia who have A-T; Goldie is among them. While A-T is an ultra-rare genetic disease with a mutation in the ‘ATM’ gene, research into possible treatments for A-T could have life-changing outcomes for Australians with a raft of vastly more common debilitating diseases. Advancements in the understanding of the ATM protein may provide insight into, and treatments for, other neurodegenerative conditions such as Alzheimer’s, Parkinson’s Disease and Multiple Sclerosis, as well as metabolic syndromes, cardiovascular disease, respiratory disease, cancer and immunodeficiency diseases such as AIDS. Since it was established in 1994, Wesley Research Institute has pushed the frontiers of medicine, delivering real impact to local patients while contributing to knowledge globally. We conduct bench-to-bedside research aimed at delivering faster, more accurate diagnosis, and improved treatments with fewer and less severe side effects - as well as new treatments for faster, improved recovery. For more information about our work, please visit www.wesleyresearch.org.au •