Co-founder and Executive Director for the Rare and Undiagnosed Network (RUN)
Ava Szajnuk, 12 years old, spoke to the students there. She has been through nine years of living in the world of the unknown. She has had four cranial surgeries and is shunt-dependent. She almost lost her vision and her life during the summer of 2013 to a subdural hygroma.
“I wish that being shunt-dependent was the least of my worries; unfortunately, it is not. I live with an undiagnosed autonomic neuropathy. I suffer from fatigue and pain every day. We have been told that we are 20-plus years ahead of science. I would love for the doctors to spend two hours in my body and tell me if they would be able to handle it for 20-plus years,” she said.
We hope all medical students consider being a geneticist. You are the future for our undiagnosed community. We need your help and your expertise.
The importance of empathy-driven care
We know all medical students are aware of the Hippocratic oath. An oath, as future physicians, you will take: “First, do no harm.” In the world of undiagnosed rare diseases, doctors can sometimes do harm with their lack of empathy, curiosity, or drive to figure out the problem patients.
We truly hope the next time you meet someone that does not feel well, you will listen with compassion and you will tell them that you believe them. We hope you will say that you will do everything in your power to help them.
How you treat patients, outside of the science, is crucial to giving hope to these families living in the world of the rare and undiagnosed.