Entering the rare disease space can be challenging for pharmacists accustomed to population-focused care. Fellowships and postgraduate opportunities in rare diseases can differ greatly from those in traditional therapeutic areas due to the ultraspecialized science, steep learning curve, and patient impact. Although each condition is rare, these diseases affect over 30 million patients in the US, making the community far from small.1 As current rare disease fellows, we aim to share key insights and lessons learned, highlighting the unique challenges and opportunities that shape clinicians working in this deeply specialized, patient-centered field.
Entering an Ultraspecialized Space: The Steep Learning Curve
For PharmD fellows or any clinicians new to this area, entering the rare disease space can feel challenging. In our experience, mentorship from preceptors and other members of the team with expertise has been critical to understanding how to meaningfully contribute to the field. As part of any curriculum in school or in practice, it is important to engage deeply with any literature, natural history studies, and disease-specific clinical guidelines when available. This is what will help build a foundational understanding of the patient journey and perspective and of the clinical decision-making and care landscape. This perspective and unique learning curve are important in the rare disease field to truly appreciate why providers are deeply committed to these communities and how we, as emerging professionals, may be able to contribute as collaborators in advancing care.
Unique Challenges of Working in Rare Disease
Many challenges are associated with working in the rare disease space, and these center on finding specialized care and an increased cost burden. The low prevalence of populations with rare diseases, accompanied by the tailored needs of patients, often requires multidisciplinary teams. This can place a logistical and emotional burden on families who need to travel and coordinate appointments to receive appropriate expertise. Additionally, patients with rare diseases experience an average diagnostic period of 5 or more years and frequently see multiple health care professionals before receiving a confirmed diagnosis.2 This prolonged process results in a substantial financial burden for families of patients with rare diseases and for the health care system. The EveryLife Foundation for Rare Diseases estimates that avoidable costs associated with delayed diagnosis can range from $86,000 to over $517,000 per patient.3 For fellows entering the rare disease space, these realities highlight both the gaps in current diagnostic and clinical pathways as well as the opportunity to contribute meaningfully to improving the patient and family experience.
Impact on Academic vs Community Clinicians
Academic medical centers frequently serve as referral hubs for patients with rare disease attracting those whose conditions have gone undiagnosed or inadequately managed in other settings.4 Clinicians at these institutions often possess a higher baseline familiarity with rare disease diagnostic algorithms, genetic testing platforms, and emerging biomarker research. Engagement at academic centers tends to be scientifically rigorous and mutually enriching. Discussions often extend into the clinical trial landscape, genotype-phenotype nuances, and the interpretation of long-term outcomes data. For fellows, these interactions push the boundaries of our own scientific depth and understanding.
Community-based clinicians, by contrast, may encounter a patient with a suspected rare disease only a handful of times throughout their career. In these settings, the fellow's role shifts significantly from scientific exchange to foundational education and early identification support. Helping a community physician recognize the subtle clinical hallmarks of a rare condition and equipping them with the confidence to initiate a referral or pursue further workup can meaningfully alter a patient's outcome. This duality of engagement, operating comfortably in both the academic and community contexts, has been among the most transferable skills developed during our years of fellowship.
The Fellowship Experience: What This Role Uniquely Teaches
About the Authors
Celia Parisi, PharmD, RPh, is a medical affairs/medical science liaison fellow specializing in rare lysosomal storage disorders. Her fellowship experience includes supporting multiple US territories and engaging with both academic and community physicians to advance awareness and education about rare diseases.
Sebastien Chenin, PharmD, is a medical affairs/medical science liaison fellow specializing in rare blood disorders. His fellowship experience includes supporting clinical trials and medical development, with a particular focus on clinical trial recruitment and site activation.
A rare disease medical affairs fellowship is not a traditional medical science liaison role in a more structured, higher-volume therapeutic space. The relationships built here carry particular weight because the clinician communities are smaller, the patient stakes are often high, and trust is earned slowly and guarded carefully. Rare diseases have also taught us scientific humility. In a space where data are sparse and clinical consensus is still evolving, intellectual honesty and empathy are not only expected but also required.
Conclusion
Working in rare diseases is, above all else, a privilege. It is a space where scientific rigor meets genuine human impact. The work done in medical affairs contributes in measurable ways to patients whose conditions have too often been overlooked. A fellowship in this space offers PharmD graduates an extraordinary opportunity to develop deep scientific expertise, build meaningful relationships with engaged clinician communities, and contribute to a field that is still defining itself. For those drawn to complexity, purpose, and the frontier of medicine, rare disease offers a meaningful and dynamic career path.
REFERENCES
More than 30 million Americans living with rare diseases. National Organization for Rare Disorders. February 23, 2026. Accessed March 1, 2026.
https://rarediseases.org/rare-disease-day-2026/
Dubief J, Faye F. The diagnostic odyssey of people living with a rare disease. EURORDIS-Rare Diseases Europe. May 2024. Accessed March 1, 2026.
https://www.eurordis.org/publications/rb-diagnosis-odyssey/
The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study. EveryLife Foundation for Rare Diseases. September 14, 2023. Accessed March 6, 2026. https://everylifefoundation.org/wp-content/uploads/2023/09/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare-Disease_Final-Full-Study-Report_0914223.pdf
Field MJ, Boat TF, eds; Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development. Rare Diseases and Orphan Products: Accelerating Research and Development. National Academies Press; 2010.
