The seriously low-tone baby is a heartsink diagnosis for intensivists. Knowing that this perfect looking baby is looking at a lifetime of severe disability, with full consciousness, is such a difficult journey for the patient, the parents, and the whole team around them.
However, in the past few years some treatments have been launched for Spinal Muscular Atrophy. Here we discuss the pathophysiology and the history of treatment for SMA, and the evidence behind Nusinersan and Zolgensma, the two primary candidates for treatment.
Both are phenomenally expensive. The evidence behind them is not overly strong. But what are the effects of the treatments, and how much of an effect is useful for the patient?
Is long term ventilation suitable for patients with SMA? Where are the limits of support in such complex lifelong conditions? Why do these drugs cost so much? Should we give them?
Lots to chew over. Life is analogue, decisions are digital.
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