The Education of a Young Doctor

February 8, 2018

After completing a master’s degree in neuroscience, Jessie Kulaga-Yoskovitz needed to find a job before she began medical school. A friend pointed her to an opening at Montreal Children’s Hospital where she found herself working on a group of rare metabolic diseases known as peroxisome biogenesis disorders.

Kulaga-Yoskovitz, who is now 30, took the job as a clinical research coordinator in the lab of Nancy Braverman. Her job was to manage a natural history study. This involved doing chart reviews, reaching out to patients and their families across the globe, and collaborating with the patient community.

Peroxisome biogenesis disorders, also known as Zellweger Spectrum Disorders, can vary greatly. In their most severe form, infants will not survive more than a year. In milder cases, patients live to adulthood. The disease is caused by a variety of genetic mutations that disrupt the body’s ability to properly breakdown fatty acids. As a result, damage can be caused to multiple systems throughout the body. It can affect muscle tone, vision, hearing, as well as damage the liver, heart, kidneys, and central nervous system.

Working in Braverman’s lab, Kulaga-Yoskovitz learned about this family of rare diseases, but she also learned about the challenges that rare disease patients in general face when it comes to finding doctors that understand their condition, the difficulties in getting appropriate care, and the challenge of access, which can be a simple matter of geography.

“Rare diseases had never been on my radar before,” she said. “The patient contact was incredibly educational. I learned so much from these families. It was pretty inspiring.”

Kulaga-Yoskovitz didn’t know what to expect when she began medical school at McGill University, but her boss Braverman, who was also a professor in the program, warned her that little time would be spent on genetic diseases. In fact, she had just one lecture on genetic diseases every month or two.

Now a second-year medical student, Kulaga-Yoskovitz in September launched the McGill Medical School Society Rare Disease Interest Group, a student group at the medical school designed to expose student to rare disease patients and issues. The group brings patient in to speak to students. It also runs a journal club focused on rare diseases. It is the only such medical student-driven group in Canada and the third in North America, she said.

“We’re taught in medical school that when you hear hoofbeats, think horses not zebras. You should think about the most obvious and most common diseases it could be and leave those zebras at the bottom of the list,” said Kulaga-Yoskovitz. “We’re hoping to prepare these physicians to care for patients who end up being the exception to the rule.”

Kulaga-Yoskovitz had a long interest in pursuing a career in medicine, although there were some challenges she needed to overcome. In high school she recalls fainting during a screening of a video in health class. She enjoyed doing scientific research, but found she also wanted to have exposure to patients and the opportunity to work closely with them.

She had thought she’d go into neurology, but after working in Braverman’s lab she is now considering specializing in medical genetics. She’s planning on being a physician-scientist, seeing patients, but also pursuing research.

Rare DIG is still building its programming. Ultimately, Kulaga-Yoskovitz hopes her fellow medical students recognize what patients can teach them. And should they encounter a patient with rare disease in their practice, be ready to be an advocate for them, doing what it takes to get them access with an appropriate expert.

“I hope that we all develop such attitudes towards all of our patients, but especially patients with rare disease,” she said. “They may not have the access to resources that patients with more common disease have, and we may need to spend a little more time advocating on their behalf, helping find the right experts for them, and assuring they get the best care possible.”

Photo: Second-year McGill University Medical Student Jessie Kulaga-Yoskovitz (center) and fellow members of McGill MSS Rare DIG


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