Why do we need a new model of care?

Rare diseases are serious, life-threatening diseases that occur in small percentages of the population. Most rare diseases (6,000-8,000) lack effective treatments and therapies. Consequently, rare diseases are a global health priority requiring new strategies to alleviate their substantial burden to society.

Whilst it is clear that quality improvement in the management of rare diseases is urgently needed, there are significant barriers in doing so. With no consensus-driven, best practice guidelines, or models of care for the majority of these diseases, rare diseases remain constant outliers in the traditional biomedical model of care, with limited scope to diagnose, treat and manage these diseases.

We propose the development of a new model of care to include research-responsive solutions to optimize the management of rare diseases. This model may assist clinicians by extending their scope of practice to include research solutions for their patients in real time, providing a more comprehensive approach. This may lead to improved health outcomes and quality of life in those patients.

Until health systems recognise the inherent limitations associated with the traditional biomedical model of care in regards to rare diseases, and make a conscious deviation away from it, the unacceptably high burden of disease will continue to drain our healthcare of its resources, plague our health professionals who lack the required tools to diagnose, treat, and manage the diseases, and most importantly, continue to allow affected children to fall through the cracks of a health system that was never designed for them in the first place.