NEW CENTRE A “GAME CHANGER” FOR CHILDREN WITH RARE DISEASES
Dr Gareth Baynam at Perth Children's Hospital with 12 year old Lily Fretwell, who lives with a Rare Disease. Photo by: Stephen Heath
A new Rare Disease Centre will soon be based at the Perth Children’s Hospital - providing hope and care for children whose conditions are often overlooked.
Undiagnosed diseases have been described as a hidden global endemic, one which currently affects more than 60,000 children and young people living in Western Australia.
In Australia, a disease is considered rare if it affects less than five in 10,000 people. More than 7,000 rare diseases are known to exist worldwide, with many more being discovered through advances in genetic and medical research.
Those living with such conditions, face a range of challenges in seeking out effective diagnosis and treatment with the difficulties exacerbated by the fact that approximately 70 percent of rare diseases have an onset in childhood.
Perth Children’s Hospital is set to play a leading role in addressing this problem by launching the new Rare Disease Centre, which will provide holistic care for children and young people with rare and undiagnosed conditions.
The Stan Perron Charitable Foundation is among several philanthropic organisations supporting the Centre through a joint commitment of $10 million over the next five years.
This funding will help with the development of an education centre, advocacy programs, and partnerships and research collaborations with national and international researchers.
Clinical geneticist and Centre Medical Director, Dr Gareth Baynam, said these initiatives are aimed at supporting children and their families as they navigate the long journey of managing a rare illness.
“On average it takes five years to get a diagnosis for a child with a rare disease,” Dr Baynam said.
“That’s five years of uncertainty, mental distress and isolation. Second, is the care journey. Only six per cent of rare diseases have a specific drug treatment. However, 100 per cent of children living with rare diseases can have improved lives through better coordination of medical care across specialities and better integration across sectors.”
Other priorities for the Centre are addressing the burden of undiagnosed and rare disease on Aboriginal children and providing mental health support for patients and families.
Dr Aresh Anwar, Chief Executive of WA’s Child and Adolescent Health Service, said the additional funding provided by the supporting charities and philanthropic bodies would allow the Centre to provide “comprehensive and coordinated treatment” for vulnerable children and their families.
“It is through collaborations like this that we are able to drive real innovation in how we support children living with rare and undiagnosed diseases,” Dr Anwar said.
Based at Perth Children’s Hospital, the Rare Care Centre is jointly funded by – the Stan Perron Charitable Foundation, the Angela Wright Bennett Foundation, the McCusker Charitable Foundation via the Channel 7 Telethon Trust and the Perth Children’s Hospital Foundation via a significant contribution from Mineral Resources Limited.
Published: 4 March 2022