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Summary Of Dr. Robert Marion's Genetic Rounds

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The role of a geneticist is multifaceted and dynamic; challenging yet rewarding. In his book Genetic Rounds, Dr. Robert Marion captures the essence of what constitutes the daily life of a pediatric geneticist. His book includes his personal reflections of cases that seemed to have left a profound impact on him. Some stories focus on the puzzle solving aspect of his cases, while others are essentially about the ethical dilemmas involved with his patient care. In this essay, I will research and describe four of the disorders mentioned in the book and elaborate on the most recent diagnostic and treatment options available for one disorder in particular: spinal muscular atrophy (SMA). Included in my research on SMA, I will critique Dr. Marion's …show more content…

Melissa and her parents arrive at Dr. Marion’s office when Melissa is approximately 1-year-old. She is newly diagnosed with a rare genetic disease, and the family is seeking advice on what should happen next. Dr. Marion notes that Melissa appears detached from her parents, who also seem detached from each other. He goes on to explain that Melissa was removed from her parents’ custody at just 2 weeks old due to suspected physical abuse. After finding Melissa screaming in pain and left arm flaccid, her mother, Lisa, had hurried her to the local emergency room. Melissa’s arm was x-rayed and results revealed a fracture of the left humerus. After being questioned extensively by the hospital social worker, Lisa was informed that Melissa was being removed from her custody because they believed that either Lisa or her husband, Barry, was responsible for the arm fracture. To further complicate the situation, additional x-rays that were done while Melissa was in the state’s custody showed “old” fractures of her ribs. Baffled, depressed and now separated from her husband, Lisa began researching what could’ve possibly caused Melissa’s fractures. She stumbled upon a rare genetic disorder called Osteogenesis Imperfecta (OI), or Brittle Bone Disease. She immediately called Melissa’s pediatrician and he agreed to contact the court and advocate for genetic testing of Melissa’s skin in search of diagnosis of OI. In a bittersweet conclusion, a diagnosis of OI Type I was confirmed and Melissa was returned to her parents. Dr,Marion’s postscript follows Melisa until age ten. Between being returned to her parents’ custody and turning 10 years old, Melisa has not suffered another

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