Terence Lee is a second-year medical student at the University of Massachusetts Medical School. As a participant of the 2019 RARE Compassion Project, Terence was eligible to apply for a David R. Cox Scholarship for RARE Compassion and share his experiences with a rare disease patient. The excerpt below is a personal essay from Terence.

Prior to being matched, my exposure to the rare disease space was limited to the principles of the human genetics course that I took at the beginning of my first year in medical school. The course was excellent but the field of genetics is so vast, and rare diseases comprised a small fraction of the overall discussion. Curiosity regarding this poorly understood aspect of medicine led me to the Global Genes organization and the RARE compassion project. I was intrigued at the opportunity to learn directly from someone who has navigated the healthcare landscape as a rare disease patient. I love to read, write and meet new people, so enrolling in the project was an easy decision. 

Lucy worked as a genealogist, helping others explore and understand their ancestry. Lucy was also a patient, diagnosed officially with Cowden syndrome, and tentatively with hypermobile Ehlers Danlos syndrome, an inherited connective tissue disorder. Cowden syndrome, she explained, is caused by a mutation in the phosphatase and tensin homolog (PTEN) tumor suppressor gene, which tends to trigger cancers of every kind. Three straight generations of women in her family had died of cancer. However, the incidence pattern didn’t quite fit the better understood cancer-causing mutations such as the breast cancer gene (BRCA), and as a result, her mother was repeatedly dismissed upon insisting to physicians that there had to be some form of cancer syndrome running in their family. Following her mother’s death, Lucy decided to receive genetic counseling herself, where they agreed to test her given the family history. These tests revealed a mutation of unknown significance, later revised as likely pathogenic, and after all this, her doctors decided that she indeed met the clinical criteria for Cowden syndrome. 

Finding treatment options for Cowden syndrome was just as difficult as getting a diagnosis. Cancer is only one part of this syndrome. It often presents with a multitude of developmental abnormalities. Lucy exhibited many characteristics of a developmental disorder as a young child, macrocephaly and delayed motor skills, among others, yet no one ever picked up on these telling signs. However, once a diagnosis had finally been made, her struggles did not end. She jumped between healthcare providers, some better than others, but continuously faced barriers to receiving adequate care at every turn. Some doctors attributed her symptoms to anxiety or attention-seeking behavior. Others pretended to know what they were talking about to mask a lack of understanding. One of her most positive interactions, somewhat dishearteningly, came from someone other than a doctor. It was a physical therapist who determined that many of the symptoms she was experiencing were actually mechanical, and were in no way triggered by anxiety or stress. They reorganized her work schedule to avoid the debilitating fatigue she often felt after working eight hours straight. The physical therapist was even able to give Lucy a few referrals to genetics clinics, which is how an additional diagnosis of hypermobile Ehlers Danlos syndrome emerged. 

Honestly, I was bewildered by the labyrinth Lucy was forced to traverse simply to gain some validation that her symptoms were real and deeply incapacitating. I was unsettled by the way many doctors had discounted her. Sure, I was idealistic now, but was I doomed to the same fate? Destined to become jaded and myopic? Lucy’s story demonstrated just how complicated and messy medicine can be. Medicine is ultimately a human institution and medicine is flawed because we are flawed. 

Our correspondence eventually drifted into a discussion of the factors underlying Lucy’s convoluted and exhausting search for answers and treatment. Gender immediately came up as a contributor. Lucy shared some articles with me about women with rare genetic diseases and other chronic conditions who faced similar obstacles. In Lucy’s experience, she often feels frustrated with her doctors during appointments, causing her to get upset, which in turn led her doctors to assume that anxiety or depression was the primary problem. This was just another hysterical woman. There was nothing wrong. A failure to communicate becomes a mental health issue in the doctor’s eyes, which then causes the patient to question their sanity, making everything worse in the process. Lucy’s chronic condition does not affect her in any way that is abundantly obvious to anyone else. Internally she contends with pain, fatigue and much more yet appears healthy in passing. She gets judgmental looks when using an accessible parking spot and has even been called “lazy” by her doctors. 

Lucy’s story embodies a more significant issue of bias in medicine. Bias against women, but also bias against patients whose illnesses are not visible at a macroscopic level. It is easy to feel compassion for my relative with cancer or my neighbor who was injured in a car accident, and undoubtedly, I should. Yet, it becomes more difficult to understand diseases lacking a more superficial manifestation: my friend with bipolar disorder, my co-worker with Crohn’s or the patient right in front of me with an insidious, complex genetic disease. With Lucy, I am reminded to remain present and impartial with all my patients. When we are together, they deserve my clear and focused attention, free of preconceived notions. It is my duty to try and step into their shoes and remain objective in my decision making. However, while certainly an admirable goal, Lucy and I recognized that complete, unbiased objectivity is, in practice, wildly difficult to achieve. It takes a considerable amount of conscious effort and unfortunately, the culture of medicine itself often impedes this sort of extended self-reflection. 

The wise, old doctor is an archetypal image in our society. We all appreciate this at some level. An almost infallible older person, usually a man, with white hair and a white coat who ceaselessly tackles all their patient’s problems with unquenchable poise and confidence. Patients internalize this image, but doctors also internalize it, and dissatisfaction, embarrassment even, arises when one does not live up to it. Many doctors and many medical students are chasing this ideal at the expense of their health and the health of their patients.

To make matters worse, the big business that healthcare has become reinforces this mindset by rewarding those doctors that chase the hardest. The ones that see the most patients perform the most procedures and order the most tests. How can we reflect on our limitations and attempt to be completely present with another human being reaching out for help when the system encourages precisely the opposite behavior? Plenty of doctors and medical students want to try their best and do good by their patients, but getting swept up in the madness sometimes feels inevitable. 

It is easy to point out the problems but harder to come up with any sort of solution. Lucy and I discussed shifting our sights away from “being right” and focusing more on patient function. She said that the most critical question when it comes to chronic diseases, like Cowden and Ehlers Danlos, should be “what’s the biggest thing that’s preventing you from living your life?” rather than “what is your diagnosis?” We assume that a diagnosis leads to treatment, which leads to a cure. This is not always the case. In complex, chronic disease, a diagnosis can be difficult to come by, and even if one is reached, there is often no way to halt, let alone reverse the process. If our metrics for success as a physician were more closely tied to the patient’s quality of life, patients might feel less anxiety searching for a label and doctors would feel less pressure to appear infallible. Less anxiety and pressure in the doctor-patient relationship leaves more room for healing and growth on both sides. 

Learning medicine is like learning a new language. Lucy and I also touched on the war-like metaphors that permeate this field. Treatments are heroic or aggressive. Diseases must be fought. We unconsciously construct a story in which doctors are a force of good, the disease is evil and patients are the battlefield. This dynamic can be useful and powerfully motivating in some instances. However, in other situations, this approach can also be harmful. Unlike an infection or tumor, a rare genetic disease is fundamentally intertwined with the patient’s biology and psychology. It is a part of who they are. If we frame our treatment of rare genetic disease as a battle to be won, then the patient suffers unnecessary collateral damage. 

I am thankful for my opportunity to meet Lucy and learn from her story. While many of the topics we discussed were abstract and deeply nuanced, I feel as though I walk away with practical strategies for improving my relationships with patients in the future. I must remain steadfast in checking myself and reflecting upon each interaction I have. Like everyone, I have my biases, both unconscious and conscious, but I am only at fault if I do nothing to address them. I also must recognize my limitations and admit when I need help to do my job. The patient’s wellbeing should supersede the desire to satisfy my ego. I must be deliberate and careful with my speech, as language has the power to modify our reality. The words I use and the attitude I adopt will make or break a relationship that I am trying to develop. While I feel as though rare disease patients serve to benefit the most from such strategies, they can be helpful to everyone. Patients across the country are losing trust in the medical establishment. Doctors and medical students are burning out at unprecedented rates. I believe the time is ripe for us all to question the healthcare system that we have constructed around us and consistently reflect upon the way our patients perceive us. 

*All patient identifiers have been changed to protect the privacy of the patients and their families according to HIPAA.