Vincent Czerwinski, M3, Class of 2024
RYR1 encodes the ryanodine receptor—a calcium channel found in skeletal muscles which opens in response to sarcolemma depolarization allowing calcium to move from the sarcoplasmic reticulum into the cytoplasm. Those with RYR1 mutations experience central core disease—a congenital myopathy characterized by profound muscular flaccidity. To a young medical student, this phenomenon is ‘interesting,’ a label reserved for the few and far between cases in medicine when a clear cellular mechanism produced intuitive effects phenotypically. However, no amount of intellectualization can prepare medical students for the sight of a four-year-old intubated girl sitting completely still in her room—the only movement coming from her eyes as she tracks the new presence in her space. Students may find this sight so uncanny that they quickly scan the patient’s medications to check for paralytics, already forgetting what they’ve just looked up regarding the effects of RYR1 mutations.
Students are encouraged to push this unease aside and proceed with their duties, checking with the mother for overnight updates and performing a physical exam. They diligently collect data points for the all-important presentation: one of the many metrics by which students are measured.