Regrettably, "rare disease" has historically been low on the public health agenda, a fact that the 350 million individuals worldwide who suffer from these diseases are well aware of. This is unsurprising since, while each of these rare diseases has too little a health burden to make a simple health-economic justification, rare diseases are thought to be just as common as other disorders. Rare disease detection and management is an example of an area that has profited from technological advancements. The integration of new medicines for rare diseases into existing care systems, on the other hand, calls into question a translational medicine premise that there is a linear pathway from bench to bedside. In awareness of the impact of patterns of clinical interventions and associated health services on patients' and their families' quality of life, a range of patient-oriented outcomes may be most relevant to examine for incremental therapies.