A Listening Ear Can Diagnose and Heal: Stacey Sklepinski, third place winner of 2023 Cox Scholarship

by Stacey Sklepinski
3rd Year Medical Student
University of Maryland

A Listening Ear Can Diagnose and Heal

Humanistic medicine places patients and their experiences at the center of medical care. It involves treating them holistically and compassionately, and it is precisely what I strive for in my medical career. The RARE Compassion Program perfectly embodies the spirit of humanistic medicine by giving a voice to patients to help directly educate the next generation of physicians about the reality of living with a rare disease.

In the first two years of medical school, much of our learning is lecture-based, and it is here where we are initially introduced to many rare diseases. While establishing this foundational knowledge is important, memorizing the pathophysiology behind these disorders and a list of symptoms does not compare to meeting and connecting with these patients. After being exposed to the etiologies and mechanisms of these diseases in class, I yearned to work directly with these individuals, leading me to apply to the RARE Compassion Program. Prior to this experience, I had little to no personal experience with the rare disease community. My preconceived notions about those living with rare diseases were two-fold: that their lives must be similar to other patients dealing with chronic medical conditions and that, because we learn such distinct features and manifestations of rare diseases, diagnosing must be easy and swift.

This year, I had the honor to sit with four unique patients and hear about their rare disease journeys. This intimate, yet respectful, window into their worlds is one that we as students do not obtain from lectures. Through these interactions, I had hoped to gain a greater understanding of their day-to-day lives, challenges they experience both within and outside of the healthcare system, and how to best advocate alongside them.

Each story I heard was different:

• an adult male diagnosed within his first year of life with an immunodeficiency disorder called X-linked agammaglobulinemia (XLA), which makes him susceptible to infections;
• a scientist diagnosed in adolescence with Müllerian agenesis, a structural abnormality of the female reproductive tract;
• the parents of a 3-year-old daughter who inherited a rare mutation of a protein that stunted her neurodevelopment;
• and finally, a veteran who suffers from polycystic liver disease on top of her additional chronic medical conditions.

Despite the differences in each of their demographics and diagnoses, four themes emerged that I believe are essential for all future (and current!) physicians to be mindful of.

First, patients with rare diseases are subjected to and undertake an immense workload.

Not only are they managing the physical and mental manifestations of their conditions daily, but they also shoulder the burden of educating medical professionals about their conditions in addition to navigating a complex healthcare and insurance system. Furthermore, each one of my partners (or their families) started their own non-profit organization to raise awareness for their disorders, fundraise to support research, or form support groups. One partner was even working with a pharmaceutical company to create a new drug that would be tested in clinical trials. Remarkably, all my partners balanced running these organizations plus fulfilling their own careers and/or family needs. It was obvious that all my partners or their families were their own biggest advocates solely from the amount of work they handled day-to-day as a patient of the rare disease community.

Secondly, mental health is often neglected in patients with rare diseases. Having a rare condition can be terrifying, confusing, and lonesome in addition to emotionally and physically exhausting. This, without a doubt, leads to increased stress, depression, and anxiety, yet physicians do not always address mental health concerns during appointments.

Moreover, for parents of a child with a rare disorder, caregiver burnout can also be a concerning reality. I think back to the conversations with my partner diagnosed with Müllerian agenesis who stressed the need for an interdisciplinary care team, one that includes therapists or counselors to help patients and their families process their diagnosis. However, there is also a deficit of mental health professionals trained to work specifically with rare disease patients and their families as the intersection of mental health and rare diseases is only now gaining greater awareness.

Thirdly, patients (or their parents, depending on the patient’s age) know their bodies best; they are in tune with their needs and know when something is off. Due to many constraints on appointment lengths nowadays, physicians are only with patients for a short period; meanwhile, patients live with their bodies perpetually, or their caregivers are with the patient most of the time. Because of this discrepancy, it is essential to listen and pay careful attention to patients, who are experts on their bodies and know their disorders intimately. Unfortunately, though, the reality is that patients with rare diseases are oftentimes frustrated from being dismissed by healthcare professionals, being sent to multiple different specialists, or receiving conflicting information.

Lastly, the lack of access to rare disease specialists is a barrier to adequate care. Almost all my partners first presented to their primary care physician knowing something was wrong. Sadly, getting a referral to a specialist took convincing in some cases. Half of my partners had to travel out-of-state for specialty care. From my one parent whose daughter had a rare protein mutation, she informed me that there are only one or two physician-scientists in the world who study this protein and its consequences. When it was time to transition from pediatric to adult medicine, there were no immunology specialists for my partner with XLA to see in his new city where he was attending college. My partner with Müllerian agenesis mentioned that some of these gynecology specialists are retiring, and there may not be enough new physicians in training to fill the void. Thus, given the nature and complexity of rare disorders, it is essential for specialists to be accessible.

With these four takeaways in mind, there are a handful of things I can do as a future physician to advocate and advance the care for my rare disease patients. First and foremost, my role is to make patients feel heard; I now will place more emphasis on listening to my patients’ stories. Especially for those who come in before a diagnosis is made, I must remember that they (and their bodies) have the answer to the puzzle that we together are trying to solve.

For those patients with an incurable rare diagnosis, I still share the responsibility for their wellbeing, and at minimum, can always provide a listening ear as a form of healing. I will also be keenly aware of my rare disease patients’ mental and emotional disposition as depression and burnout can certainly affect their physical health or willingness to engage in care. Second, it is of vital importance to acknowledge my limitations in rare disease knowledge, which requires vulnerability. Even if I do not become an expert in rare diseases, I know I can ask for help from my specialist colleagues. This referral could then result in a timely workup and diagnosis.

After all, trust in the physician-patient relationship begins with honesty. On the other hand, if a patient comes to me with a diagnosis already in hand, I will be committed to educating myself on its features and management, alleviating part of that burden from my patients. Finally, and above all, it is essential to have compassion in each of my patient encounters. Not only is it challenging to manage chronic medical conditions in general, but rare disease patients have additional barriers to care such as costly testing or treatments that may not be covered by insurances, a sense of loneliness in their rare disease journey, and a lack of specialists who can give them clear information. Moreover, after years of interactions with the healthcare system, there may also be a lot of distrust or skepticism in sharing their stories. Therefore, it is crucial to validate my patients’ experiences and feelings in a compassionate manner as I will not first-handedly know their journeys.

The future of medicine starts with us, the medical students, becoming more engaged with and knowledgeable about rare diseases. We may or may not encounter many patients with rare diseases over our careers, but our paths will cross with some nonetheless. Overall, I now view
the physician-patient relationship as more sacred since completing the RARE Compassion Program. Patients share with us, their medical team, their deepest concerns and fears. They seek medical care when they feel puzzled or betrayed by their bodies and need help.

My partners’ stories have inspired me to spread awareness about Global Genes and the RARE Compassion Program to my colleagues and share my insights. I am so grateful for this opportunity with Global Genes which has continued to mold me to treat patients holistically and compassionately.