• ethics
• intensive care
• mortality
• neurology
• neuromuscular

A male infant is born at term in unexpectedly poor condition. He needs immediate resuscitation including respiratory support and is admitted to the neonatal intensive care unit. The infant is treated initially for suspected hypoxic-ischaemic encephalopathy, but he remains ventilator dependent. Over the coming weeks, it becomes apparent that he may have an underlying neuromuscular disorder. The medical team orders various investigations, including genetic testing. Subsequently, the results indicate that he has X linked myotubular myopathy (XLMTM), a rare, severe, life-limiting congenital myopathy. In the ensuing weeks, the infant’s parents have long discussions with the clinical team caring for him. What does the future hold for him? For how long might he live? Will he be able to breathe without respiratory support? Would it be in his best interests to have a tracheostomy and continued mechanical ventilation? Or would it be best to withdraw his current respiratory support and allow him to die?

In paediatric and neonatal intensive care, ethical questions about the benefits and burdens of treatment for children and infants with severe neurological disorders are fraught, but relatively familiar.1 However, for rare disorders, like XLMTM, answering parents’ questions adequately and honestly has often been extremely difficult. Sometimes that difficulty has arisen because it has taken a long time to reach a definitive diagnosis (the average age at diagnosis for XLMTM is 4 months2). However, even with a diagnosis, available information on outcomes may be difficult to interpret. Published cohorts of patients with rare diseases are inevitably small, but small case series …