Case narrative

Cole is an 8-month-old first-born child, diagnosed at 4 months of age with Werdnig–Hoffmann disease (spinal muscular atrophy, SMA 1), a severe form of autosomal recessive muscular dystrophy. SMA 1 has historically led to death from respiratory insufficiency before age 2 and is incurable. Cole’s parents are aware of the nature and prognosis of his condition and have been apprised of all potential measures to prolong Cole’s life and enhance his comfort.

Cole presents to the palliative care team with a 2-week history of irritability, frequent night-time awakenings, and increasingly frequent and brief daytime naps. He is afebrile and has no new symptoms. His respiratory rate is 60 per minute and shallow; a full physical examination is otherwise unremarkable. Cole’s parents report that shortly after commencing sleep, his breathing becomes shallower and then he awakens, never getting adequate rest. Though not in severe distress, it is very likely that the etiology of his irritability is borderline respiratory insufficiency when awake, resulting in sleep disruption and deprivation, which is further exacerbated by the decreased conscious control of breathing when asleep. No soporifics are approved for this age group. Further, any lessening of his consciousness risks respiratory failure and even respiratory arrest. Cole’s parents remain adamant that they wish no form of mechanical respiratory support.