The American Journal of Medical Genetics recently published Patrick’s story of waiting for his Myhre diagnosis. This narrative is based on a review of medical records, personal experiences in the care of a remarkable patient, and family interviews. It traces the life of a young man from rural Montana whose diagnosis was delayed for over two decades, despite early evaluations by renowned specialists. The absence of a unifying diagnosis profoundly shaped his and his family's experience—emotionally, medically, and socially. When the diagnosis of Myhre syndrome was finally established via whole exome sequencing in adulthood, it brought both clarity and new uncertainties.

Through his story, we examine the psychosocial toll of diagnostic delay, the transformative potential of genomic medicine, and the resilience of individuals and families living with complex, undiagnosed conditions. The narrative also underscores the ongoing systemic barriers to care and inclusion for individuals with lifelong rare disorders. Lastly, this account offers a reflection on the philosophical framework of Maurice Merleau-Ponty, whose phenomenology of the lived body versus the body-object provides a lens to understand the subjective and embodied dimensions of living with an undiagnosed condition. Read the full paper here.