Ang Xu, also known as Tony, was the first place winner of The Cox Prize, a contest established by (STAND) Students Advocates for Neglected Diseases. His assignment? To work directly with a rare disease patient and their family to understand how future doctors can better contribute to the care of rare disease patients. His winning essay, “The Complexities of Medicine Lie Outside Textbooks and Examination Rooms” told the story of Lincoln– a patient who has forever changed his outlook on rare and genetic disease.
When Lincoln was born, his mother, Rachel, knew something wasn’t right. While he looked like the beautiful, perfect newborn she had imagined–she knew he was struggling.
He presented at birth with low oxygen levels while sleeping, but it wasn’t until he was five weeks old that doctors were able to pin down a diagnosis.
Congenital Central Hypoventilation Syndrome was something Rachel and her husband, Brandon, had never heard of. Lincoln had to have a Tracheotomy tube put in.
“The hospital was great. They set up a private CPR class for us just for babies with Tracheotomy tubes.”
Reflecting on the whole diagnostic process and beginning treatment, the couple felt there could be much improvement with communication between doctors. When they heard about the contest, they were eager to sign up in hopes of educating future physicians.
They were matched with Ang Xu, a second year medical student at Baylor College of Medicine in Houston, Texas.
“I heard about this program through an email sent out by our senior director of student affairs. I was immediately interested because part of the program included being matched with a family,” said Xu. “I went into medicine because I wanted a job where I was able to help people but also connect with people on a personal level. I hadn’t yet experienced that in medical school so I felt like this was a perfect opportunity. I was also intrigued about the topic because we had not covered rare genetic diseases in our curriculum.”
Xu was invited over to the family’s home for dinner to meet and discuss Lincoln’s daily life.
“There are so many things that I don’t think doctors necessarily think too much about. When we come home we have all these machines and treatments for Lincoln, it’s a lot,” said Rachel.
“When I had dinner at my matched family’s house, they were able to showed me their son’s ventilator, pulse ox and all the other medical devices they use. They also gave me an overview of their day to day experiences with managing CCHS,” said Xu. “The main thing I learned was how the disease permeated almost every aspect of the parent’s lives, from running errands, to going out to eat, to finding appropriate day care, etc.”
To add to the confusion, the family didn’t have a wealth of support from fellow patients.
“We did chat with a couple who are overseas who have a son with this condition and worked with a documentarian to make a film, but mostly we have a small online community.”
Xu said he feared the family might get uncomfortable about some personal questions he wanted to ask during their meeting, but found the family was happy to start a dialogue and share their journey.
“The major reason why I learned so much was because of their willingness to share their entire story,” said Xu. “Doctors need to be able to empathize with not only how the disease is symptomatically affecting the patient but how the disease is affecting all other aspects of the patient’s life. Only then can the doctor make the best decisions to improve the patient’s quality of life.”