“A Powerful Perspective: Seeing Through the Eyes of a Patient”
By Natalie Morris, Medical Student at Cooper Medical School of Rowan University in New Jersey and winner of 2021 Cox Scholarship
No one in my family has a rare disease. I come from a family that suffers from the common ailments of the Western world. My father died when I was 15 from a heart attack, and I have spent the years thereafter turning my family into their healthiest selves. RARE Compassion is not about heart disease, but my experience made me appreciate the stories of the patients I was paired with even more. My family and I live with risk factors that are modifiable, with a disease that is well known, widely treated, and often talked about. When I began this program, I realized I did not have a family member, friend or friend of a friend with a rare disease. I had only learned about the diseases in school.
Because of my lack of interaction with individuals with rare diseases, I had few preconceived notions surrounding the rare community. I mostly thought about how hard it must be to have a disease that is rare and may not have a treatment, which is why I wanted to participate in the program. I envisioned myself as a physician, seeing a patient with a disease I read about once as a first-year medical student and not knowing what to do. I thought about what a disservice that would be to the patient and how it must feel to teach a physician about a disease for which they are supposed to be treating you.
When I started RARE Compassion, I hoped to learn about the specific diseases, but also about what it is like to navigate life as a rare disease patient. I applied to medical school because I believed in the idea of treating the whole patient, including knowing the barriers they face. I hoped from this experience I would learn even part of what being a rare disease patient entails so that I could be a more supportive physician.
I met my first patient the evening of April 15. When I logged onto the Google Meet, I was greeted by Susan*, the mother of Katie*, the rare disease patient I was paired with for the first rotation. I immediately learned that Katie, an 8-year-old, was non-verbal and that this rotation I would be hearing Susan’s perspective as the mother of a child with a rare disease. Katie was born healthy and was brought home from the hospital with no thought of rare disease. However, around six months, Katie did not seem like herself. Susan took her to doctors, knowing something was not right. She was told to wait, however, after seizure-like activity at seven months, Katie was tested and diagnosed with Chromosome 15q duplication. Hearing this, my first thought was, “I have never heard of that before.” Upon speaking with Susan, I learned that Chromosome 15q duplication is a duplication of part of chromosome 15. It can be inherited, but in Katie’s case it was a de novo mutation, meaning that it arose “randomly.” According to Susan, the presentation of this disease varies widely depending on the individual, but Katie’s presentation was more severe with significant seizure activity and lack of speech.
Seeing rare disease from a mother’s perspective was powerful. After the first time I spoke with Susan, I felt a lump in my throat. The ferociousness of her love for her daughter was tremendous —t he challenges they faced were great. Susan tracked every medication, seizure, appointment, IEP meeting, and babysitter. From administering medication to stop a seizure to fighting with insurance for medication to going to conferences, Susan did it all. It also made me realize that rare diseases can permeate everything in a family. Katie could not attend family vacations due to necessary care and her parents also had to raise their other two children.
When I asked Susan to tell me the one thing she wished medical providers knew when caring for rare disease patients she responded with wishing providers were more collaborative. One of the greatest gifts she received was finding a physician that was not afraid to say, “I don’t know the answer, but I will find out.” I realize now how powerful it can be for a patient to not just hear, but see that their physician is truly their advocate and fighting for their well-being. During my second rotation, I was with Rebecca*, a woman in her mid-forties, who was diagnosed with Ornithine Transcarbamylase Deficiency (OTC). OTC is an X-linked disorder that results in little or no functional ornithine transcarbamylase, an enzyme that functions in nitrogen metabolism and excretion.
Rebecca had to be diligent about her diet. If she ate too much protein, she could start to have neurological changes as ammonia, a byproduct of protein metabolism, is toxic to the brain. It can even result in comas, which happened to Rebecca when she was 12. That was when she first heard of OTC and her life was changed. Through genetic testing Rebecca discovered that she, like Katie, had a de novo mutation (“Ornithine Transcarbamylase Deficiency”).
Speaking with Rebecca, I again saw just how vastly a rare disease affects one’s life. From family planning decisions to medication acquisition to diet modification to not losing a job for healthcare purposes—it all revolved around rare disease. But one of the first and last things Rebecca told me was that people tend to forget that rare disease patients are more than their disorders. Rebecca hikes, travels, works a full-time job, and is married. She also has more than just OTC — she has high blood pressure and allergies that must be managed, which she feels often get lost in the process of caring for her OTC.
My experiences with Katie, Susan, and Rebecca have shaped my understanding of the rare community and the role I play as a future physician. I realize now that rare diseases are often all encompassing and essentially play a factor in every decision that a rare disease patient makes. I also saw how powerful the rare community is and how determined they are to attain what they need and achieve their dreams. I am, and always will be, inspired by that drive. My greatest takeaway, however, has been how I can use all of the stories I was privileged to hear to make myself a better physician. As a physician, my role will be to not just give the information that I already know, but to push to learn more, reach out to those that are more knowledgeable on a topic, and look at my future patients and make sure that they know that I am an advocate and standing beside them through the journey.
To try to encompass all that I learned from the women that I spoke to in a few pages would not do justice to their stories. What I can do is to use their stories to be a better provider for future rare patients and to challenge myself to never be complacent with knowledge. From both Susan and Rebecca I heard how powerful it was for them to be treated by a provider that advocated for them — that did not say, “I don’t know, sorry,” but instead saw an opportunity to learn more information for their patient.
My experience has also strengthened my understanding of what a patient-physician relationship looks like. These diseases are rare, and often those who have them know more about them than many physicians. This reminded me that patients know themselves well and that if they are saying something feels off, they usually are correct. I believe that this reestablishes the relationship as an equal partnership, rather than a paternalistic one, and allows for space to grow together and let the patient know that they are heard and believed.
Following this experience, I know that I will carry all the stories that are shared with me. When I come across a disease I do not know, I will think of Susan, hearing an old physician call her daughter’s disease that “15 q thing” and let that fuel me to seek more information. When I have patients with rare diseases, I will try to spend as much time as possible letting them tell me their story so that they feel heard and able to impart their experience of their disease. Lastly, as I continue to interact with classmates, I will share my experience and lessons so that rare disease patients are considered in decision making. Of course, these are actions I can take every day as a future physician, but I also hope to attend conferences about rare diseases, like the ones Susan and Rebecca attend, so that I can hear first-hand accounts of patient experiences and learn as much as possible. RARE Compassion has allowed me to experience medicine the way I always desired: understanding a patient in their wholeness and completeness.
*All names have been changed to protect patient identity.
References
“Ornithine Transcarbamylase Deficiency.” NORD (National Organization for Rare Disorders), 4 Jan. 2017, https://rarediseases.org/rare-diseases/ornithine-transcarbamylase-deficiency/.
The David R. Cox Scholarship is an opportunity offered to medical students in our Rare Compassion Program. In 2021, participants were asked to submit an essay about their experience working with a rare patient or family. Among the numerous essays received, three winners were selected. For more information about the Rare Compassion Program or the Cox scholarship, please email us at [email protected].
Read essay, “Going the Extra Mile” – Helena Yan, second place winner
Read essay, “Hearing Hoofbeats” – Swathi Balaji, third place winner
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