In 2002, my son Nathan was born with a rare congenital heart defect called hypoplastic left heart syndrome. One year later, he was diagnosed with early onset scoliosis, a rare disorder that causes a sideways curvature of the spine. You can view the trailer to Nathan’s upcoming documentary here.
The Nathan Centre aims to make sure that for each child who comes to our centre, that somewhere in the world, a team of experts is investigating the cause of that child’s disease. This was inspired by Nathan’s second rare disease, early onset scoliosis, which until recently, lacked any aetiological (understanding the cause) research. Aetiological research requires laboratory-based research, which is basic research.
2018, my master’s research in the field of rare diseases found the role of basic research in rare disease research is vital; scientists must first understand the pathways of disease before they can develop appropriate interventions. We also found that linking clinical registries (which are databases that collect and store patient information) and biobanks (which are freezers that collect and store biological samples such as blood) together offer the most practical, cost-effective, and impactful solution for rare disease research. This paper went on to be published in Orphanet journal of rare diseases and has been cited from the likes of Nature. Our findings served to direct future research efforts for rare disease research.
And we have had success in this area – we were integral to facilitating conversations between an international clinical registry for early onset scoliosis (Dr Akbarnia from the video) and the Director of Basic research at Texas Scottish Rite Hospital for Children. These two resources have now linked together and in 2020 secured a collaborative grant that supports genomic studies in 100 children and families with early onset scoliosis recruited from centres across the USA. This year, Nathan’s passing, and the dream of the Nathan Centre is being featured in the San Diego Spine Foundations special report for their 15th anniversary.
Our second area of research is suboptimal health status in carers. Suboptimal Health Status (SHS) has been defined as “a physical state between health and disease”. SHS is characterised by the self-reporting of general malaise and ambiguous health complaints in the absence of a diagnosable condition. SHS is a reversible stage of chronic disease. Professor Wei Wang, who has over 30 years training as a medical doctor and PhD in public health, coined the term “suboptimal health status” to describe this condition.
Western Australia, specifically Edith Cowan University’s Centre for Precision Health, is the epicentre for suboptimal health research and home to the world’s foremost authorities on suboptimal health status. Being based in Western Australia, combined with our international research colleagues and collaborators, further augment our research strengths and capabilities.
My PhD research is investigating how caring influences suboptimal health. It is an honour to apply Professor Wei Wang’s pioneering work in suboptimal health to carers. So compelling is this topic, that Professor Wei and I have been invited to present at the International Forum for Healthcare and safety in Sydney this June, sponsored by one of the world’s most prestigious Q1 medical journals “the British Medical Journal”.
It is our hope dream to help discover new causes of diseases, new diagnostic tools, and develop new treatments and therapies. It is also our hope to develop a digital tool for doctors so we can more effectively and efficiently identify and address the gaps in care for our kids and their families.