Paeds Cases · genetics-dysmorphology-and-metabolism

Communicating a new MCAD deficiency diagnosis after a metabolic crisis — OSCE

OSCE communication and shared decision-making station: explaining to parents what a new medium-chain acyl-CoA dehydrogenase deficiency diagnosis means for their toddler who survived a hypoketotic hypoglycaemic crisis, why the low glucose with absent ketones was so dangerous, what the emergency and long-term management involves, what the newborn screening result means for the family, and why the prognosis is excellent with fasting avoidance — while addressing parental guilt, the fear of recurrence, and the practicalities of the sick-day plan.