Genetic Metabolic Learning

Patients and their family members can be highly effective teachers. They talk about symptoms, living with disease, their diagnostic journeys, and feeling isolated. They recall the challenges of navigating a complex medical system. Whereas doctors lecture about facts and describe clinical cases, patients and families have lived an often poignant narrative, and the research is clear - storytelling is a very effective teaching tool. We remember stories better than we do facts.

In memory of a young man who courageously fought to live with his disease, and in honor of his parents who continue to share their insight learned from their son, GMCE presents a patient-as-teacher educational series, proudly named The Damian Project.

Damian was born with symptoms that included poor feeding and low muscle tone. Soon after birth, he suffered his first “metabolic crisis” in which his blood became very acidic (metabolic acidosis). For months Damian was sent from doctor to doctor; his parents were questioned, disbelieved, and dismissed. He was eventually diagnosed with pyruvate dehydrogenase deficiency, a rare defect in his cells’ ability to produce energy for ordinary biologic functions.

Damian’s life over the next 27 years was complicated by medical and developmental challenges. Over time, his parents became strong and vocal advocates. They saw the need for teaching physicians and other professionals about their son and his metabolic disorder.

Although Damian has since passed away, his parents have continued speaking to medical audiences, offering a personal, insightful, and powerful perspective. Their continued outreach provides a compelling learning opportunity for young doctors who can hear about the patient experience in a dramatic and non-confrontational forum.

Inspired by Damian’s story and his parents’ efforts, GMCE is developing a library of patient presentations, representing a wide range of metabolic conditions. This unique collection provides a face and a voice to the patient community, introducing physicians and trainees to patients they might not have seen in their own experience. The impact: GMCE believes those who have the chance to observe diagnosed patients are more likely to recognize new cases.