For this year’s Cox Prize for Rare Compassion, we had three top finalist. Brittany Trogen submitted her essay on a family with a young adult struggling with Nemaline Myopathy. She observed life for both him and his mother and reflected on how rare disease can complicate life in a way most doctors don’t consider.

So far, most of the focus has been on the most common diseases that we’ll encounter in clinical practice—things like diabetes, heart disease, and cancer. It’s challenging, because even when we limit our scope to the very widespread conditions, there’s so much information to absorb in a very limited amount of time,” says Trogen. “I certainly had never heard of Nemaline Myopathy (NM) before meeting my family. So I think extra-curricular programs like this one are fantastic. They fill a very important gap.

Trogen heard about the Cox essay prize through her Dean of Student Affairs and immediately wanted to participate in the program.

At this stage in our medical education, we don’t have many opportunities to interact with patients long-term or to get to know their families. I was excited to have the chance to connect with a family dealing with a rare disease and to hear more about how it influenced their lives.”

She was paired with a patient, Asher*, and his caregiver mom, Hanna*. Soon after they were introduced, they began emailing and setting up times to meet so that Trogen could absorb the reality of day-to-day life with a rare disease. She found her subjects to be “incredibly open,” as are many patients with rare diseases who continue to fight for awareness surrounding the unusual symptoms of their condition.

I think within the medical community, there is so much concern about patient privacy that we are almost hesitant to overstep the bounds of what is clinically relevant. But this experience really showed me that, in some cases, people truly want to share their stories and personal experiences with illness, and to have them be heard by a wide audience. They want to have a voice.”

Trogen found that the daily hardships were something most doctors probably wouldn’t take into account.

Asher is constantly having to worry about keeping his airway clear, organizing his medications, and ensuring his ventilator and equipment are functioning properly. And then there’s just trying to live a normal and productive life—his school, as wonderful as it is, is an hour commute every morning by bus. Hannah spends every day juggling Asher’s medical care, her work as a nurse practitioner, and several other volunteer and fundraising activities to try to advocate for NM. To go through all of that, and to still have energy and optimism about the future, is incredibly admirable.’

The benefit for Trogen in meeting the family confirmed her passion for wanting to work in pediatrics. She realized she really liked to work with families.

“So much of medicine is trying to remember the person behind the symptoms. Asher has such a strong, funny personality that you might not see if you get too caught up in thinking about his illness. I think remembering that will be really important in my future career.”

 

About Brit

Brit Trogen is a second-year medical student at the New York University School of Medicine. She is originally from Alberta, Canada. Prior to attending medical school, she obtained a bachelor’s degree in molecular genetics and a master’s degree in medical anthropology from University College London, UK.