Genetics Lessons From Rare Patients : Academic Medicine

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Genetics Lessons From Rare Patients

Falah, Nadia MD1

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Academic Medicine 98(2):p 263, February 2023. | DOI: 10.1097/ACM.0000000000005053
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It was around 5:00 am in my second year of residency in genetic training when I was called by the neonatal intensive care unit (NICU) team for a consult: a few-days-old infant with dysmorphic characteristics and minor respiratory distress was suspected of having a rare genetic syndrome. When I initially saw the infant, he was breathing room air, but within 4 weeks, he was intubated, swollen, and clinically deteriorating. The genetic assessments and subsequent workup did not result in a diagnosis, and the multidisciplinary team had no clue as to the etiology of the infant’s condition.

I was the resident on call, and along with the genetics team, made over 20 follow-up visits on him that resulted in no diagnosis. “He may not have a genetic disorder, but his physical traits and strange presentation seem like a rare condition,” the NICU fellow said, turning to me. “What other suggestions do you have?” Whenever I finished rounding on this infant, I would stand by his bedside for a few seconds, staring at him and contemplating his diagnosis. The NICU team was considering a do not resuscitate order. “He had a very short life, suffered, and now he is leaving,” I reasoned. His family is in emotional distress, and we, even with all our knowledge, seem unable to assist.

Since I was a mother of 2 (one infant, one 4-year-old) and wife of an anesthesia resident, my first year of residency was difficult. As an international graduate, I had to learn about the complexities of the health care system, cultural differences, and professional and communication skills. My first year was full of constructive criticism that shaped me into the person I am today. In my second year, in addition to the daily routine of balancing family and work, I had to improve my next in-training exam score.

That night I sat in bed, feeling fatigued and bored. “How many syndromes are in the book, and how many do I have to learn tonight?” I thought. Genetic syndromes are difficult to learn since they are rare and difficult to recall if not seen. As I was turning the pages and counting syndromes, a snapshot of a 6- to 8-year-old child looked familiar, so I paused to read the name—Costello syndrome. “He looks like the NICU baby!” I murmured as I turned back to that page. But Costello syndrome was not described as fatal. I quickly reviewed the chapter’s specifics, then checked the literature to determine if there was such a thing as a rare of the rare. I Googled “lethal Costello” and found 3 cases similar to the baby in our NICU. Each of those patients lived for about 3 months.

It was during this patient’s final days that we submitted a sample for genetic testing and verified the diagnosis: it was one of the rarest of the rare. This was a lesson about Costello syndrome that will live long in my memory. I saw him on his final day and I thought, “I’m sorry we didn’t have much to give. I’m sad to see you leave, and I want you to know that you taught me lessons.”

There was no treatment for his diagnosis. He and others with this disease taught us a lifelong lesson that cannot be learned in a lecture. His case was presented at our genetic team conference, to our NICU team, and at a national meeting.

Every now and then, a patient will bring me new insights and knowledge, such as lessons on rare diseases that I would not have learned if I had not seen them in person. These rare patients are responsible for a significant portion of my medical genetic knowledge. They instilled in me the ability to be hyper-observant and detail oriented. Learning to become a physician entails far more than simply passing an exam.

In my current practice, I use a thorough approach to clinical diagnosis to ensure that each patient is given a diagnosis. I encourage students to rotate in genetics to gain experience with the unusual. I tell stories and advocate for the rare disease community. No patient, no matter how rare the condition, should go without an accurate diagnosis. My patients have altered my attitude, vision, and level of interest in the undiagnosed rare, and I am ready for the next mystery.


The author would like to acknowledge the WVUCTSI copyediting service supported by the National Institute of General Medical Sciences of the National Institutes of Health (NIH) under Award Number 5U54GM104942-05. The content is solely the responsibility of the author and does not necessarily represent the official views of the Health Resources and Services Administration, the U.S. Department of Health and Human Services, the U.S. Government, or the NIH.

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