Apparently rare cases are worth studying because….

Excerpt

As suggested by Dr. Robert B. Mellins in 2007, ‘‘apparently rare cases are worth studying, not because they are rare, but because they provide an opportunity to unravel an important homeostatic mechanism of disease present in all of us but not so apparent except in those missing some important protective mechanism’’ [1]. This special issue of Clinical Autonomic Research focuses on five rare to ultra-rare respiratory and autonomic disorders of infancy, childhood, and adulthood (RADICA), including Congenital Central Hypoventilation Syndrome (CCHS) [2], Familial Dysautonomia (FD) [3], Prader Willi Syndrome (PWS) [4], Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) [5], and Rett Syndrome (RS) [6], and introduces a comprehensive data dictionary [7] with focus on autonomic signs and symptoms. This special issue additionally introduces the success of applying big data methodology [6] and objective neurocognitive biomarkers [8] to advance Dr. Mellins’ wisdom and the emerging discipline of Pediatric Autonomic Medicine. This full circle is particularly noteworthy since Dr. Mellins described the first patient with CCHS in 1970 [9], before going on to advance the then emerging discipline of Pediatric Pulmonary Medicine. …