We can invest millions of dollars into cures, but we also need to support families and healthcare professionals with psychosocial support
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Precision medicine is providing hope to families, but the treatments are so new that there are insufficient support systems around them. ‘We can invest millions of dollars into cures, but we also need to support families and healthcare professionals now through developing models of care and support systems, particularly psychosocial supports.’ says Kris Pierce.
Will Pierce was just four days old when he had his first complex, catastrophic seizure. Then he had another. And another.
His parents, Kris and David, spent most of that first year in and out of hospital managing Will’s condition while caring for his twin sister, Ella. They also noticed that his development was not keeping pace with his twin’s. By nine months, Will had deteriorated to the point that he was sent home for end-of-life care.
Then, one day, Kris saw him smile. It gave her hope.
Despite his debilitating seizures, Will grew into a teenager who continued to manage the impacts of his conditions. When he was 14, some of his DNA stored in the United States from a research study years earlier was finally sequenced, and he was diagnosed with the rare genetic disease SCN2A-related disorder.
Now 22, Will is one of the oldest people in the world diagnosed with SCN2A so his future is unknown. He loves highland cattle, transport and bird watching.
It’s been a long road to get him to this point, says Kris.
‘Having a child with a rare, complex condition is very isolating,’ she says. ‘His twin sister has had to witness her brother being rushed off in an ambulance countless times, and of course that’s had ongoing implications for her. ‘
“Not many people see the work his extensive support team have to do to enable Will to have the quality of life he now enjoys or the impact on the broader family.”
Kris gave up work for about 15 years to care for Will full-time but has now rekindled her career – consulting to research institutes, industry and community groups to ensure quality consumer engagement drives priorities and guides decisions in health care.
Kris is Director of Consumer Engagement at Child UnLimited, an Australian network of researchers, clinicians, advocates and families working to improve their clinical care and quality of life of children, adolescents and young adults living with a chronic illness or disability.
In 2024, Child Unlimited announced a strategic partnership with the Luminesce Alliance Psychosocial Enabling Platform to ensure that consumers are guiding its research around precision medicine.
Kris says precision medicine is providing hope to families, but the treatments are so new that there are insufficient support systems around them. ‘We can invest millions of dollars into cures, but we also need to support families and healthcare professionals now through developing models of care and support systems, particularly psychosocial supports.’ she says.
‘That’s what really interests me in working with the Psychosocial Enabling Platform. I think it’s really important for families to be seen,” she says.
‘It’s about more than just offering the cutting-edge new treatment,’ says Dr Kate Hetherington, Lead Investigator for the Psychosocial Enabling Platform.
Dr Hetherington and her colleague, Professor Claire Wakefield, led Luminesce Alliance funded research which identified common impacts of and barriers to precision medicine, developed educational resources for families, and established NSW as a world leader in collaborative psychosocial research in childhood genetics.
“It’s about understanding the needs of the whole family, communication, and support – all those soft processes that run alongside the hard science but have a huge impact in terms of quality of life and wellbeing, and that can impact the outcome of the therapy,” says Prof. Wakefield.