What do you see as the key shortcomings in healthcare currently experienced by those living with a rare disease in the UK?
Rick: There is a fundamental lack of direction in rare disease care. With no dedicated speciality, or even a dedicated generalist clinical specialist, those patients whose rare condition affects multiple systems are passed between clinicians and services with little explanation, communication and often care. Complex cases need focused management, and the current system is only capable of delivering that when exceptional individuals step forward to deliver care outside of the standard operational model. This needs to change.
Lucy: I think that the design of services for rare diseases has often taken place through a largely biomedical lens which then creates an infeasible challenge for providing for all 7000-plus of them because they are so heterogeneous. Therefore it is my observation that services have popped up in an inconsistent fashion based on seemingly random determinants: interest from a notable physician, due to the relentless work of a force-of-nature advocate, interest from industry. Which leads to the issues that Rick has outlined. Again, if we turn the table and listen to the expressed needs – these are often remarkably similar across the rare disease field.