For this year’s Cox Prize for Rare Compassion, we had three top finalists. Brielle Gerry submitted her essay on a family with a young adult struggling with Trisomy 18. She observed life for both the child and mother and reflected on how rare disease can complicate life in a way most doctors don’t consider.

“The mother in the family I was paired with for this essay was an extraordinary caregiver,” says Gerry. “She was so open and honest with me about some of the most difficult and heartbreaking moments of her life, all in the hope that it will make me a better student and physician”

And Gerry was open to learning.

“Sometimes I feel like I don’t know which diseases are actually ‘rare.’ We’re taught so many diseases but sometimes the incidence of disease gets lost. Although I still have a few more weeks of basic science coursework before my clinical rotations, I do not feel that the nature of rare diseases and their unique challenges have explicitly been covered in my education so far.”

Gerry saw the family at least once a week and still keeps in touch to see how they’re doing. “Unfortunately, my patient is in the hospital right now, so I haven’t been able to see them. However, I’m actually trying to schedule a time for them to come in and speak with the medical students—when they are feeling a bit better and have more time on their plate.”

Gerry explained that her entire view on certain conditions had been altered. Originally she’d thought that nearly all Trisomy 18 patients died within the first year of life or soon after.

“I felt that it was a genetic abnormality with no hope. However, I learned that my patient’s and her family’s life was filled with joy and hope despite my patient’s diagnosis. My patient’s mother also told me so much about the different medical issues her friends with children with Trisomy 18 have – the disease presentation widely varies and there are no set interventions; everything is taken on a case-by-case basis.”

She says that now, although only having had one window into one of the countless rare disease, “I have learned skills that could be applied to ALL rare disease patients. While those with rare diseases have issues that overlap with chronic diseases, such as multiple medical appointments, medications, insurance coverage, and variety of treatment options, the rare disease community faces slightly different challenges in finding information about a given disease and support from those familiar with their disease. These things are harder to come by given the “rare” nature of rare diseases. As a physician, I hope to at least share resources with patients and families to ensure that they are getting accurate information and adequate social support – components of care that may not be as high of a priority for a more common disease.”

 

Biography: Brielle Gerry is currently a second year medical student at the University of Virginia School of Medicine, and received a B.S. in Neuroscience and B.A. in Spanish Studies from the University of Delaware in 2014. Brielle is currently interested in pursuing a career in pediatric emergency medicine or neonatology. In her free time, she enjoys playing the piano, making pancakes, and watching Grey’s Anatomy.

 

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