LAUSR

Aims Sandhoff disease is a rare disorder of lipid storage caused by an inherited deficiency of the beta-hexosaminidase enzyme, resulting in a progressive deterioration of neurological function and increasing physical dysfunction. Prognosis for patients with Sandhoff disease is extremely poor. We describe and analyse a fourth-year medical student’s first encounter with this disease in meeting a young patient with Sandhoff disease, and their family, during a paediatric hospital placement. Methods A two-year-old patient presented to hospital with a difficulty in breathing and central cyanosis. They were admitted to the paediatric ward. They had a background history of recurrent aspiration pneumonia, epilepsy, and progressive bilateral vision loss. The patient suffered from severe developmental delay and they were unable to speak or walk. Results Medical students’ exposure to palliative medicine during undergraduate studies is limited, and this is especially so with paediatric patients. These cases are often complex and the burden of the patient’s disease on their family is significant, in particular when the prognosis is known and certain. Despite rigorous undergraduate training, involvement in such cases can be emotionally difficult for medical students and other clinicians. Conclusion Every clinician remembers at least one ‘seminal’ case from their career because their involvement in that patient’s care or management presented them with a valuable learning point or lesson. We explore the medical literature to better understand how young patients and their families uniquely cope with terminal illness, and to increase medical students’ and junior trainees’ awareness of the various coping strategies available to them when they first meet such patients in the early phase of their careers.