For this year’s Cox Prize for Rare Compassion, we had three top finalists. Nancy Shenoi 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.

For the Baylor College of Medicine student, this opportunity felt like a great way to meet patients with genetic disorders so she could get an authentic understanding of what life with a rare disease is really like.

However, there is more emphasis on genetic disorders at her school than most.

“The Baylor Genetics faculty introduces first and second year medical students to patients with genetic disorders in our preclinical curriculum (the first 1.5 years),” says Shenoi. “Students in the Genetics Track are also encouraged to attend Evenings with Genetics, a lecture series designed for individuals with genetic diseases and their families and the Houston community as a whole. However, there is sometimes more of an emphasis on some of the more common genetic disorders as opposed to some of the rarer ones.”

It was in early July that Shenoi would meet her matched family, the ones she’d be observing and interviewing to help form her essay.

“The family was very warm and welcoming,” says Shenoi of their first encounter. “They were eager to help a young physician-in-training learn more about their child’s condition. They were more than willing to share their entire story with me and even helped me get in touch with their child’s school advocate.”

What she picked up on quite quickly is that parents and families are under pressure.

“What I did not realize was to what extent symptoms could be overcome with therapy and sheer persistence. I really gained a better appreciation for what living with a long-term disability might entail and what kind of resources parents and family members require to ensure that their child has EVERY opportunity available to them.”

 

The experience moved her and she said it helped her to better understand the ultimate challenges patients with rare diseases face – going through that diagnostic odyssey that is a direct result of a lack of education about rare disease.

“As of now, I am considering both Psychiatry and Neurology as my specialty. I also recently found out about a new pediatric subspecialty called Neurodevelopmental Disabilities which focuses on longitudinal care of pediatric patients with disabilities. “

 

About Nancy Shenoi

Nancy Shenoi is a second-year medical student at Baylor College of Medicine in Houston, Texas. She graduated from the University of Houston with degrees in Biology and Psychology, and is planning a career in psychiatry and disability medicine. Nancy is involved in local mental health outreach projects in the Houston community and is a member of her school’s Genetics and Ethics tracks.

X