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"Diagnosis": The Story Behind The Story

March 06, 2022
by Mary Ann Littell

Laura Glick, MD, has a keen interest in rare and unusual diagnoses, going back to her days as a medical student. “There’s an art and a process in figuring out a difficult diagnosis, and I love that challenge,” she says.

This interest was put to the ultimate test last fall, when Glick, then a second-year resident in the Department of Internal Medicine’s Traditional Internal Medicine Residency Program, led the way in diagnosing a disease that’s so rare, most physicians never see it. The patient, a 39-year-old man in grave condition, had been airlifted by helicopter from Westerly Hospital to Yale New Haven Hospital (YNHH) with a host of symptoms that defied explanation.

Through due diligence, collaboration, and medical detective work, Glick identified the patient’s problem and his life was saved. She is quick to share the credit. “Medicine is such a team sport and it took an entire team to help him,” she says. “Everyone from the medical student to the attending physician and the consultants played an integral role. Without their input, we would not have been able to make a diagnosis.”

Because the case was so unusual, it was presented at the Department of Internal Medicine’s weekly Medical Grand Rounds, where Yale faculty member and New York Times columnist Lisa Sanders, MD, FACP, heard it and was fascinated. She featured it in her popular biweekly New York Times column, “Diagnosis.”

“What got my interest was Laura Glick’s thoughtful approach,” says Sanders. “First, she took care of the immediate crisis, his flooded heart. Then she took the time to carefully think things through. The process of a diagnosis is: you cast a wide net and think, what could this possibly be? You eliminate things as they don’t add up. She did all that, ran the right tests, and came up with the correct answer.”

Some diagnoses are immediately obvious; others require a myriad of tests and studies. And then there are the ‘zebras’ -- the most unusual diseases that are rarely seen. This was such a case. This patient walked into the Westerly ER complaining of epigastric pain. In the space of a few hours, he rapidly deteriorated. Then his heart stopped as he was undergoing a CT scan. CPR got his heart beating again, but his blood pressure remained dangerously low. The Westerly doctors had done all they could. YNHH was better equipped to handle this complex case.

As the senior resident in the I.C.U., Glick would take the lead in managing the patient, under the guidance of attending physician Sanket Thakore, MD. “The senior resident is like the team quarterback,” says Glick. “You call in all the teams that might be needed, plan the logistics, and help keep everyone informed. The patient had no significant medical history, and no sign of infection that would cause him to become ill so quickly. He needed an extensive workup. He was on a ventilator and requiring three very powerful medications to raise his blood pressure and his pressure was still barely high enough to perfuse his organs.”

She admits her own heart was pounding: “I was incredibly nervous. I had no idea what was wrong with this patient. But one thing I knew is that there would be no single hero solving this case.”

Glick and I.C.U. fellow Stella Savarimuthu, MD, pored over the patient’s electronic record, assisted by intern Shreyak Sharma, MD, and medical student Daniel Hodson. Glick marshalled her forces, and by the time the patient arrived, a team of over 20 people was standing by to help stabilize him.

The many challenges this patient presented included tamponade, fluid around the heart that keeps it from pumping. When the fluid was drained, he improved, but only marginally. Given the unclear etiology of his tamponade, Glick and her team sent a broad infectious and autoimmune work-up. The results provided a huge clue: the thyroid and adrenal gland weren’t functioning.

Searching the medical literature, Glick had a Eureka moment. “When these two organs don’t function, that points to a disease called autoimmune polyglandular syndrome type 2,” says Glick. “It affects only about 14 to 20 people per million, making it pretty rare. When the syndrome presents with cardiac tamponade—that’s even more rare.” Properly diagnosed, the patient was treated and made a full recovery.

She adds: “Watching how everyone banded together to save this patient is unlike anything I have ever seen before.”

Hospitals save lives daily, but not every case is fraught with drama. This one had more than its share, and it resonated across the Yale campus. In a message to faculty, Yale School of Medicine Dean Nancy J. Brown, MD, offered this insight: “There is so much to love about this story. In its telling, Dr. Sanders captures what it means to be a teaching hospital and academic health system. She celebrates the commitment of our faculty, staff, and trainees to the value of human life and the tenacity with which they ask questions and apply their diagnostic acumen in the pursuit of saving lives.”

“What Laura did is the epitome of excellent care and exactly what we aspire to in our residency program,” notes Mark Siegel, MD, professor of medicine and director of the Traditional Internal Medicine Residency Program. “She took it upon herself to do her own investigation. She reviewed this patient’s records from the other hospital, assembled all the necessary teams and this patient’s life was saved.”

He adds that a core value of the Yale residency program is that everyone contributes. “Residency is an opportunity for new physicians to strengthen their knowledge and skill. So it’s a critical time for mentoring. Another of our core values is we listen to everyone. We provide an environment where people at all levels feel comfortable speaking up.”

Beyond the New York Times story, other professional opportunities have come Glick’s way. In October 2021, Sanders presented the case on a popular medical podcast, “Clinical Problem Solvers,” and invited Glick along as a co-presenter. “That was incredibly generous of her and it says a lot about the Yale faculty,” she says. “They will go out of their way to offer residents opportunities for professional development.”

“This was one of the most difficult cases I’ve ever seen, and possibly, ever will see,” says Glick, now a third-year resident. “The reality is that in many hospitals, with a very sick patient like this, the attending would take over completely. But Dr. Thakore entrusted us to figure this out. He watched and supported us every step of the way. That’s what makes Yale a true teaching hospital.”

She adds: “Between the podcast and the New York Times article, thousands of people have learned about this patient's story and the excellent care Yale provides.”

Submitted by Julie Parry on March 07, 2022