In the Realm of Rarity: Joshua Salisbury, first place winner of 2023 Cox Scholarship

January 9, 2024

by Joshua Salisbury
2nd Year Medical Student
Paul L. Foster School of Medicine

In the Realm of Rarity: A Medical Student’s Reflection on Understanding Rare Disease

The term, “rare disease” was commonly used in my home growing up. This was because the alternative name for the disorder my sisters had was a lot harder for people to say and understand (me included). My first sister passed away from this rare disease when I was four. And my second sister would live until I was eleven, potentially making her one of the oldest known to have survived with her illness. After sharing this part of my life with people I often receive the following comment, “I am so sorry for your loss”. While I appreciate their concerns, I do not think of my childhood or my sisters with sadness or sorrow. Rather, I think back with amazement, gratitude, and hope. Unbeknownst to myself I was learning lessons from my sisters that positively continue with me to this day.

However, my experience was not that of my sisters. And because of their mental status and how young I was when they passed, I never had the opportunity to truly apprehend what they experienced. To this day I regularly wonder what it was like living with such a debilitating disease. This question is what initially pulled me to the Rare Compassion Program. It was, in my view, an opportunity to have a proxy interview with my sisters. And although I found a lot of
commonalties between my family’s stories and those within the program, I also discovered many additional first-hand insights and eye-opening differences.

My first meeting with Kelsey was one of those moments which gave me a deeper understanding of living with rare disease. Kelsey was diagnosed with Ehlers-Danlos syndrome when she was twelve. Until her diagnoses she had been in and out of the hospital an extreme number of times. It shocked me to hear how many ER visits it took before one doctor stopped, questioned, and then intently listened to her constellation of symptoms. However, by this point there was a lot of damage that had occurred due to misguided treatment and progression of the disease. After hearing her story, I asked, “do you think many of the complications you face today could have been reduced or eliminated with an earlier diagnosis?” Her response was a resounding, “yes”.

I remember thinking to myself how frustrating it must have been for Kelsey and her family to face the unknown for 12 years. According to one peer-reviewed journal, “the average time for accurate diagnosis of rare disease is about 4-5 years; in some cases, it can take over a decade”. In that time frame patients undergo extensive and expensive examinations. One of my patient partners explained it best by saying her diagnostic journey felt like she was constantly walking in the dark. On rare occasions she would see the light of hope in the night, but often it was short lived. And from my conversations I found these mental gymnastics often took a psychological toll. Several of those whom I met with expressed that this was one of the more difficult and often unseen complications of rare disease.

In round 2 of the program, I was paired with Mariah and her mother. Mariah is a spirited young woman who was diagnosed with phenylketonuria (PKU) soon after birth. At first glance you would have assumed Mariah was a typical teenager and to her credit that is mostly true. That is except for her highly austere diet. PKU leads to a buildup of the amino acid phenylalanine, which is toxic to the nervous system. When left untreated it can cause intellectual disabilities.

“Did you know that there is phenylalanine in most brands of gum?” Mariah candidly asked me. I shook my head having no notion of what was in most of my food. She continued listing the vast amounts of food that contain this pesky amino acid. While talking with Mariah I had an overt sense of amazement. This young woman was more disciplined than most college students. At this point Mariah’s mother chimed in and began explaining all the challenges her daughter faced and the family as a whole. One of the more pressing issues she shared with me was the difficulties dealing with insurance companies.

People who are diagnosed with PKU require an alternative way of getting certain nutrients. This is accomplished through a special drink that helps fill that protein gap in their diet. You would think that because this drink necessary to sustain life for those with PKU it would be covered indefinitely by insurance companies. However, as Mariah’s mother shared their story with me, I soon found out that this was not true. Moreso, this was a commonality among all of those I met with. They all faced troubles in either paying for medical bills or fully accessing their insurance.

These experiences I have shared are not an exhaustive list of all the problems faced by those with rare disease. There are many more stories that were communicated during my conversations and probably even more that were not. But these are the stories that have stuck with me because they each have been a clarion call. After talking with each of these individuals I always came away trying to imagine myself in the shoes of the doctors who treated these people.

Trying to determine how I could have made a difference in their healthcare outcomes.

In Kelsey’s case, I wondered how might I promote an earlier diagnosis? After much contemplation I found a need to reflect on my own medical education. Up to this point much of my training has been focused on common diseases, which is understandable to a degree. With an almost unending list of diseases, schools must make decisive cuts to the curriculum. But that still does not excuse medical students/physicians from taking responsibility for those with rare disease. After researching this topic, I have found that there have been widespread improvements

in our ability to make diagnosis earlier. Two examples would be newborn screenings and more accessible genetic testing. Yet, I feel like there is a lot more that can be done to promote early diagnosis and I am excited to see how I can help. One easier fix that can truly make a difference is increasing the communication between physicians. As I shared earlier, I feel like medical education is not tailored to teach about rare diseases. So that means these improvements must come either while physicians are in residency or when they are attendings. Simply put, we, physicians, need to teach, talk, and listen to each other. Through this network of knowledge, we can help raise awareness for these rare conditions and hopefully reduce the amount of time it takes to diagnose.

Additionally, my hope would be by reducing this time period it will also have positive mental health effects for those with rare disease. But I recognize that this is not a complete solution to the mental health difficulties faced by these individuals. There is much more that I can do as a physician to ensure both the physical and psychological needs of my patients are being met. Some of the ideas I hope to incorporate into my future practice is asking about patient’s mental health at each visit and helping provide access to services (e.g., support groups, helplines, and counseling) when needed.

In Mariah’s case, I wondered how I might be a stronger advocate for my patients in the never-ending struggle with insurance companies. This was a tougher problem for my brain to confront. Insurance guidelines have been debated and argued at the state and federal levels nonstop by some of the nation’s top health experts and politicians. A big problem needs a big solution and who am I to provoke it? However, I was inspired by Mariah and her mother who themselves have helped to champion legislation. Legislation that helped to protect individuals with PKU against insurance companies from declining life-saving care and supplementation. 

They had gone up against goliath and won. And because of this I feel compelled to try my hand at something similar in the future. I think doctors need to be more vocal about insurance practices both on the state and federal levels. Our expertise as physicians should help to improve
our current system of healthcare especially for those with rare disease. Still, I am not completely sure what that looks like just yet for myself. But I can guarantee that I will figure it out because I want to be a strong advocate for all my patients whether it is in the clinic or state offices.

On my second day of medical school, I decided it was finally time to learn the name of my sisters’ rare disease – Infantile Neuroaxonal Dystrophy. However, that is just a name and without context it doesn’t mean a lot. I believe that this program has given me that context. It has been the conduit by which I have come to know my sisters better and also become a better, more understanding, physician.

The David R. Cox Scholarship is an opportunity offered to medical students in our Rare Compassion Program. In 2023, 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, “A Listening Ear Can Diagnose and Heal”

– Stacey Sklepinski, third place winner of 2023 Cox Scholarship

Read essay, “Listen Louder”

– Rahi Patel, second place winner of 2023 Cox Scholarship/

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