RARE Daily

Medical Dignity at Every Turn: Insights Learned from Rare Disease

January 25, 2023

On reflection, rare disease has always felt a bit personal to me. When my mother was diagnosed with rare disease in her mid-forties, my sister and I wondered, mostly in denial, how the strongest woman we have ever known could in a near-instant lose basic human capacities most would take for granted. Medical illness had certainly not been new for us, with common conditions such as high blood pressure and diabetes, prevalent in our family. And yet, this experience was entirely different. It was bizarre to see my mother receive high-quality healthcare for her other conditions but a helpfully unhelpful “I’m not sure, but here’s a referral” for her new one. The lack of care, both emotionally and literally, was unnerving.

I was drawn to the RARE Compassion program in part due to my family’s experience with rare disease. I wanted to surround myself with other students and healthcare leaders who too were invested in dismantling barriers to care for patients and families afflicted by rare disease. My mother and I had always felt we needed to enter healthcare circles somewhat on the defense when requesting care for her illness. I decided to pursue a career in medicine in hopes that no patient would ever have to feel the same way. But more than that, I came to RARE Compassion in the recognition that my mother’s story is only one. Narratives of rare disease are as varied and as heterogeneous as the illnesses that fall under the term. Being an advocate for the rare disease community, as I saw it, would have to involve acknowledging and appreciating its non-uniformity. It would entail providing a forum for patients to be heard and validated, without preconceived notions of how we believe an illness should manifest. It would make me a more accessible and compassionate physician.

On the evening of May 7th, I logged onto Zoom and met Lauren, the mother of Ben, a 22-year- old diagnosed in childhood with Lennox-Gastaut Syndrome (LGS). I had admittedly never before heard of LGS, which Lauren explained is a condition characterized by severe, recurrent epilepsies as well as cognitive and developmental impairments. As Ben was non-verbal, my first rotation would involve hearing the perspective of a mother of a child with rare disease. Her story was immensely powerful. At just two-days-old, Ben experienced his first seizure and was quickly whisked away by nurses to the NICU. It all unfolded so quickly, Lauren’s hands shaking even before she had time to mentally process. For Lauren, a first-time mother, it was horrifying to see her baby go from being happily breastfed in one moment to convulsing while turning blue in the next.

For reasons that still evade Lauren to this day, Lauren and her husband were not allowed to see Ben while he was being treated in the NICU. Any attempt to gain updates and explanations was usually rebuffed with a curt “We don’t know yet.” I realized as I watched Lauren hold back tears as she recalled this harrowing two-week experience, that a simple “We’re doing everything that we can. We’ll get back to you as soon as we know more” would have made all the difference. Knowing a medical professional is standing by your side and fighting on your behalf can be life-changing for patients and families of rare disease.

Ben was discharged two weeks later with a prescription of vigabatrin and an initial diagnosis of infantile spasms. As Ben’s seizures grew more frequent and developmental milestones increasingly delayed, thereafter began their journey, traveling to several states while rotating through different neurologists, diagnoses, and medications. The more “definitive” suggestions she received from clinicians, the more ambiguous Ben’s condition seemed to grow. By an act of God, as Lauren described it, she finally found the answer when she happened to stumble upon LGS while reading a medical textbook on seizures at her local library. Lauren had become, by necessity, an expert on LGS and an expert on Ben-care.

As we spoke, she would at times caress the lightly frayed pages of two large, white binders she had used to document every detail of Ben’s healthcare for the past 22 years. Her love for her child was unmistakable. She had voluntarily made Ben’s condition, in some ways, her own – every medication, every emergency room visit, every seizure effortlessly etched into her mind. For Lauren, moments to slow down, stop, and breathe had become more exceptions than norms. But as I spoke with her that night, she appeared unscathed, her vibrancy palpable even through the computer screen.

I have seen this time and time again: caregivers of patients with rare disease are some of the most earnest people I have ever met. And yet, I realized as I spoke with Lauren, that as unequivocally inspirational as her dedication is, to glorify Lauren as a caregiver would be unfair. Caregiving, particularly in rare disease, can often overshadow all that a person is. Yes, Lauren is the proud caregiver of Ben, but she is also a travel enthusiast, master home cook, and wizard of the financial world. Speaking with Lauren, I realized that advocacy for the rare disease community must involve checking in with family members as well, connecting them to support groups and providing opportunities for them to freely articulate and move past their concerns. It should also entail destigmatizing the moments when families take off their caregiver-hats to take time for themselves to just be.

My next rotation was with Susan, and it was my first opportunity during the program to speak directly to a patient with rare disease. Susan was diagnosed in her mid-thirties with Ehlers- Danlos Syndrome (EDS), a connective tissue disorder that causes hyper-flexible joints. For Susan, her EDS manifested as crippling back and hip pain, frequent joint dislocations, and mobility impairments. For years prior to her EDS diagnosis, her doctors would attribute her symptoms, head-scratchingly so, to vague etiologies spanning growing pains, hormonal changes, and muscle strain. Every time her clinicians would absent-mindedly prescribe pain-killers without exploring her symptoms further, what Susan heard was, “It’s not a big deal.” As a patient desperate for answers, she felt as though at every moment, she needed to justify why she was seeking care in the first place.

This is perhaps the biggest lesson I have learned – and biggest misconception disillusioned – from Susan’s story. Medical gaslighting rarely manifests overtly. I learned, it is the subtler, more insidious forms that are often the more dangerous in that they conceal medical neglect behind a semblance of healthcare. For Susan, this took the form of the all-too-common “Just try Advil” or the never-ending “You should see XXX specialty instead.” When I asked Susan what good healthcare looks like for her, her response was refreshingly simple. Good clinicians, she described, are not those with all the answers but rather those with the humility to listen, be patient, and learn.

As I ponder how I will build upon my RARE Compassion experience as a medical professional, I know I will hold onto Ben’s, Lauren’s, and Susan’s stories as I help bring more of my colleagues to a study of rare disease. It is my hope that by sharing insights learned through my family’s experience and through RARE Compassion, I might help prompt realization that taking the time to reflect and refine our rhetoric when speaking to patients with rare disease may potentially save a patient years of emotional and mental healing. I also hope to promote greater visibility of the unique fiscal, mental, and environmental barriers that invariably intersect with rare disease. Healthcare inaccessibility should never be misconstrued as non-compliance.

Finally, from this experience, I now hold greater conviction of a paradigm shift that needs to occur when discussing rare disease. As I see it, the conventional “horses versus zebras” mentality implies an exclusivity – that is, what we learn from zebras only applies to zebras. I disagree. Insights from rare disease inform medicine more broadly. Certainly, the rare disease narratives shared with me will fuel a drive to push beyond complacency and to construct space for all patients to be heard and believed, no matter their illness. What is more however, from the perspective of medical research, a study of rare disease offers aspiring physician-scientists like myself a unique opportunity to unlock some of the most fundamental aspects of cellular biology. What could be more broadly applicable than that?

In all the complexities that can often accompany rare disease, I walk away from the RARE Compassion program with one straightforward, overarching thought: all patients, rare or not, zebra or horse, deserve medical dignity, by simple function of being human.

Note: All names have been modified to protect patient confidentiality.

The David R. Cox Scholarship is an opportunity offered to medical students in our Rare Compassion Program. In 2022, 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]

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