The Value of Patient and Family Voices
In the world of healthcare, particularly for those with rare diseases, the gap between clinical assessments and lived experiences can be vast. Stacy Pike-Langenfeld, one of the panelists at the UMN Rare Diseases Day event, brings such a powerful perspective to why bridging this gap is crucial for better care and outcomes.
When asked why it’s essential to center the voices of patients and families affected by rare diseases in healthcare and research-focused programming, Stacy highlights the invaluable perspective they offer in shaping medical education and improving patient care. "The setting is in an academic institution, and I think the value of the patient and caregiver voice is something that clinicians, researchers, or even students studying in the medical field don't always get firsthand," Stacy explains.
She provides further insight, stating that while clinicians focus on metrics, symptoms, and physical assessments, they rarely capture what happens beyond the clinic setting. What providers miss are the everyday experiences—how patients interact with siblings, navigate their homes, or participate in social activities. These insights provide "a real-life view of how they [the patients] live day to day," which differs dramatically from what healthcare providers observe in clinical settings.
Stacy notes that nationally, there is increasing recognition of the importance of patient-reported outcomes: "What does it look like for you to live with this disease? What does it look like when you have friends and interact socially?" These questions help "evaluate the full picture," not just clinical knowledge.
Shifting the Focus in Provider Education
For healthcare providers and educators, Stacy advocates for a fundamental shift in perspective. Rather than focusing solely on deficits or limitations, she urges centering on existing abilities: "How can we make use of your existing abilities? And let's focus on those pieces instead of always focusing on the lack of ability."
This strength-based approach recognizes that patients with rare diseases bring tremendous value to their families and communities despite their conditions. Clinical assessments measuring physical improvements or medication responses are important, but providers need to understand how these factors affect daily life.
Stacy points to a critical gap in medical education and challenges the status quo: "Within the academic institution...there's a lot that they're doing with just hardcore learning...core concepts and clinical values. But are they focusing on the psychosocial and emotional components? Because that's really what comes into play in day-to-day life."
Bridging the Communication Gap
One challenge Stacy identifies is the communication barrier between patients and providers. "Patients are not taught to speak those medical terms," she explains. When patients describe their daily experiences instead of using clinical language, attentive providers When patients describe their daily experiences, attentive providers have the ability to identify relevant medical information and decipher whether it’s related to medication side effects or disease progression.
Stacy believes that the provider has more capacity to bridge the communication gap by learning from and understanding the patient’s perspective. She notes that “It's a win-win in the patient–provider relationship when the provider meets the patient where they are in their healthcare knowledge."
“Hear their story!”
When asked what healthcare providers should understand about the rare disease community, Stacy offers this advice: “Having a rare disease is hard. When you see an unfamiliar condition on a chart, pause for a moment and give the patient two minutes to share their story — it’s a powerful form of validation.”
She describes a common frustration among rare disease patients: providers who believe they understand a condition after a quick internet search. "Great. Hold that Google information over here. But then first listen to the patient. Hear their story. Not everything that's on Google or AI is what's happening to them."
While this advice applies beyond the rare disease community to patients in general, it takes on more significance with rare conditions. "In rare disease, it's even more important to really hear them out because they are usually the experts," Stacy notes. Patients with rare diseases typically understand every aspect of their condition intimately and have been "calculating everything on the back end."
Looking Forward: A New Approach to Medical Education
Stacy Pike-Langenfeld shared her hopes on how medical education might evolve to incorporate patient perspectives more effectively, an approach she believes has the potential to transform how future healthcare providers understand and treat patients with rare diseases. By developing more comprehensive case studies that include both clinical data and patient narratives, medical education can better prepare providers to deliver care that addresses the whole person—not just their symptoms or lab values.
As Stacy reminds us, the clinic is the provider's space, not the patient's: "They do not do life there." True understanding requires looking beyond clinical walls to see the complete picture of a patient's experience.