Nancy Shenoi, a second-year Baylor medical student with an interest in genetics and childhood neurology, took home second place in an essay contest for her reflections on her time learning from a family affected by a rare genetic disorder called spinocerebellar ataxia type 15/29.
The essay program, the David R. Cox Prize for Compassion, recognizes the work of student doctors who have connected and identified with a rare or neglected patient community. It is sponsored annually by Global Genes, a leading rare disease patient advocacy organization that promotes the needs of the rare disease community, and Student Advocates for Neglected Diseases.
Prior to meeting the family, Shenoi researched spinocerebellar ataxia type 15/29 and familiarized herself with the symptoms, behaviors and challenges associated with the disorder. “My research helped me understand what to expect from a diagnosis standpoint. However, I was less prepared to learn so much about how a genetic disorder can impact every member of the family and their lives outside the doctor’s office,” said Shenoi.
In addition to gaining a more intimate understanding of spinocerebellar ataxia type 15/29, which Shenoi learned impairs muscle strength and impacts the ability to walk and speak, she also witnessed firsthand how each member of the family does their part to make sure the patient lives as normal a childhood as possible. As a part of these efforts, the patient’s parents are very involved with his school administration to be sure he is included as much as possible, in as many activities as possible.
“It was shocking to me to learn how many barriers families with disabled children face in the school system,” said Shenoi. “You really need to have an advocate fighting for your case, and if you don’t, it’s very apparent that the family will be at a disadvantage when it comes to their child’s education.”
Through this essay project, Shenoi learned more about the resources that are available to patients and families with rare disabilities, and how important it is to make those resources known to this population.
“I didn’t enter this contest with the goal of winning; I wanted to learn more about rare genetic diseases and how they impact patients and their families in life outside the clinic. I gained a greater understanding of support groups and resources available in our community, and I believe this experience will make me a more empathetic physician down the road.”