Listen Louder: Rahi Patel, second place winner of 2023 Cox Scholarship

by Rahi Patel
2nd Year Medical Student
Chicago Medical School

Listen Louder

“Listen louder than you play.” These words from Mr. Loe,* my middle school band director, still ring in my ears. In 7th grade, I remember him starting to look frail. At 12 years old, I found myself grappling with the realization that something was wrong. Little did I know that this would shape the trajectory of my career and future work, marking the beginning of what would become a lifelong connection with rare diseases.

As Mr. Loe grew thinner and sicker, I began to desperately scour the internet for potential causes or treatments. However, my middle school science education did not prepare me for the convoluted papers and medical jargon I encountered. I saw his journey with an undiagnosed rare disease progress and the toll it took, though I did not know that was the battle he was facing at the time. I later learned that, after countless trips to countless doctors, he was diagnosed with mast cell activation syndrome (MCAS), an immune overactivation syndrome that often takes decades to get diagnosed. This was my first introduction to the world of rare diseases.

The profound impact of witnessing my role model’s own struggle with a rare condition was a driving force behind my pursuit of a career in medicine. The confusion and fear I felt while googling every possible cause of fatigue and weight loss is something I heard in every
story from my patient partners, who searched desperately for diagnoses for their loved ones when no one else could find an answer.

I joined RCP for a “scholarly assignment” in medical school. I did not know what to expect, but I was drawn to the program because of Mr. Loe. We learn about rare diseases in medical school, but these lessons are always followed by the same caveats: “this is extremely rare” and “you will likely never see this in practice.” When I applied for RCP, I wanted to gain a greater perspective on what it was like to live with a rare disease, in the hopes that I could use that knowledge to better guide my future patients. I was also particularly interested in exploring the often overlooked role of caregivers in navigating life with a rare disease.

My first RARE partner meeting was with Dina*, whose daughter Abby* lives with Lennox-Gastaut syndrome (LGS). LGS is a rare and debilitating condition that causes severe epilepsy that usually begins in early childhood. I was unable to meet Abby, as she was living in a residential care program for individuals with disabilities. In our first meeting, Dina and I delved into the challenges posed by LGS, the difficulties in obtaining a definitive diagnosis, and the relentless struggles she faced as a mother advocating for her daughter in healthcare settings and beyond – challenges I would later discover were all too common among patients with rare diseases and their caregivers.

However, it was my second encounter with Dina that changed my entire perception of the physician I aspired to be. Our conversation started out like any other, with small-talk about the never-ending Chicago winters and the fact that I was wearing purple, her favorite color. She started to tell me about how she loved the care center Abby was at, but she still longed to have her daughter back home. I could hear the tremor in her voice and I sensed her pain. I froze, unsure of how to respond, fully aware that there was nothing I could say that would magically lift this burden from her shoulders. I felt her pain come through the screen, strong enough for tears to well up in my own eyes. “It’s okay, you can let it out. I don’t mind,” I said through a shaky voice. That was all it took.

Dina began to cry and, as she did, she told me about her awful week and how she missed Abby dearly, though she knew deep down that she made the right decision. For a moment, I felt a fraction of the pain I could only imagine she felt. We sat on our Zoom call and cried together, often pausing to half-laugh at the mascara running down our cheeks. In those few moments, both of our walls came completely down.

I came into the meeting with my medical-student-cap on. I was to be professional, attentive, and inquisitive with questions prepared from our first encounter. While these attributes are undoubtedly important, I left that meeting with a new understanding of what my medical student cap– and later, my physician cap– could look like. As future physicians, we are not just resources for medical care and education. We have the power to shape the trajectory of the patient-physician relationship by connecting on a human level.

My experience with RCP underscored the importance of connecting not only with the patient, but also with their caregivers. Oftentimes, no one is really caring for the caregiver. Physicians have a unique opportunity to work alongside the caregivers, who are integral parts of the care team, and reach out a hand to tell them they are doing a great job. Through my meetings, I learned the profound impact of that simple reassurance.

Another major hurdle that many patients in the rare disease community face is a lack of a concrete diagnosis. All of my patient partners had to go years without a definitive diagnosis and we discussed, at length, the toll that can take. I was inspired to see one of my patient partners, who was diagnosed with neuromyelitis optica syndrome (NMOS), working with the NMOS Foundation to raise awareness and work with newly diagnosed patients to navigate day-to-day life changes. On the other end of the spectrum, one of my patient partners still lacked a diagnosis for her son. This obviously creates barriers in access to effective treatments and clinical trials, but it also makes it difficult to find community with other patients and caregivers. As physicians, we will not always know the answer. For some conditions, we may never know the answer.

However, it is not about what or how much we know. It is about how we, as a medical community and as individuals, approach and listen to these patients to find a diagnosis together.

My experience with RCP has absolutely changed how I view the doctor-patient relationship. A core tenet of being a physician is educating patients about their conditions so that they can make decisions towards a healthier life. With rare diseases, this tenet is flipped on its head, with patients educating their physicians about their own condition. Patients, regardless of how rare or common their disease is, are always the experts on their symptoms and presentation. Patients’ bodies do not always adhere to so-called textbook presentations. This is even more true for patients with rare diseases. It is vital that we embrace that shift in the doctor-patient relationship.

I will hold the lessons I learned in RCP in my heart for the rest of my career. I hope to pursue neurology, a field in which rare diseases are abundant due to a relative lack of understanding of the brain within the medical community. I also hope to advocate for these patients through research, as many of my patient partners talked about the newfound hope they gained through clinical trials. My time with RCP prompted me to pursue research opportunities in Ogden’s Syndrome, a rare neurodevelopmental syndrome that is caused by mutations in the NAA10 gene. I hope to continue advocating for rare disease patients in the clinic and in the lab so we, as a medical community, can push the needle towards finding cures.

This program came full-circle for me because it reinforced the message I got all those years ago from Mr. Loe: listen louder than you play. Through my encounters with my patient partners, I learned the most important lesson of all, a twist on the lesson from my first experience with rare disease – listen louder than you speak.

*Names changed for privacy purposes.