Advancing Hospital Support for Rare Disease Care

Published: May 1, 2025

Each May, Cystic Fibrosis Awareness Month spotlights one of the most common and life-threatening genetic disorders in the United States. Affecting approximately 40,000 children and adults nationwide, cystic fibrosis (CF) impacts the lungs, pancreas, and other vital organs, requiring lifelong, multidisciplinary care. Hospital leaders are essential in shaping access to cutting-edge therapies and comprehensive respiratory services. As advances in genetic medicine transform CF from a terminal childhood illness into a chronic, manageable condition, healthcare systems must adapt their rare disease infrastructure accordingly. Addressing disparities in early diagnosis and continuity of care is critical—especially for underserved and rural communities. With the average lifespan of a CF patient now exceeding 50 years, hospitals must plan for complex adult care that spans pulmonology, gastroenterology, mental health, and social work. CF centers of excellence set the standard, but expanding these models across community hospitals is a strategic imperative. Hospital executives are encouraged to assess their system’s readiness for long-term rare disease management. This month, let us elevate cystic fibrosis from a rare diagnosis to a shared priority in population health strategy.

Hospitals are increasingly incorporating genetic screening and early intervention protocols to detect CF at birth or even prenatally. Newborn screening remains one of the most powerful public health tools in CF detection, offering families timely access to treatment that can improve outcomes and reduce lung damage. As precision medicine continues to evolve, so too must our care delivery models. Executives must evaluate how their facilities are equipped to provide respiratory therapy, nutritional counseling, and access to modulators like Trikafta. In underserved populations, where access to specialty care remains a challenge, hospitals should consider mobile outreach, telehealth, and community partnerships. Integrating rare disease care into electronic medical records and value-based payment models ensures quality monitoring and cost efficiency. Collaborating with national networks such as the Cystic Fibrosis Foundation helps standardize care protocols and share data for quality improvement. Investing in specialized staff training can also bolster a hospital’s capacity to deliver tailored CF care. Ultimately, the goal is not only to extend life expectancy but to enhance quality of life for all patients living with CF. This month calls us to act with both innovation and compassion.

For hospital administrators, Cystic Fibrosis Awareness Month offers an opportunity to reflect on internal gaps in rare disease care infrastructure. Are pulmonology services readily accessible to patients across your network? Is there a systemwide strategy for supporting young adults transitioning out of pediatric care into adult specialty clinics? These are critical questions for any institution seeking to be a leader in equitable, lifelong CF management. As patients live longer, they face an evolving burden of care that includes fertility treatment, transplant coordination, and psychosocial support. As Cleveland Clinic observes, “With more patients living into adulthood, the needs of the CF population are changing. Multidisciplinary teams must be prepared to manage comorbidities, reproductive health, mental health, and transplant planning, all while optimizing pulmonary outcomes”. Integrated care coordination teams, which bring together nurses, social workers, and case managers, are essential for navigating complex health journeys. Hospital-based innovation accelerators can also support research into new treatments and delivery models. Administrators should engage their staff in awareness training this month to reinforce the importance of recognizing symptoms and supporting early referrals. CF is not just a pediatric disease—it is a lifelong condition requiring seamless care transitions. In raising awareness, healthcare leaders reaffirm their role in closing systemic care gaps and championing dignity for all patients with rare disorders.

Equity remains a central challenge in cystic fibrosis care. While CF has historically been considered a condition affecting primarily White populations, growing research shows underdiagnosis among Black, Hispanic, and Indigenous communities. This disparity stems partly from gaps in genetic screening panels and cultural biases in clinical practice. A recent study published in Frontiers in Pediatrics further solidifies this gap, stating, “There are wide disparities in CF diagnosis and care in low- and middle-income countries, resulting in delayed diagnosis, limited access to advanced therapies, and significantly poorer outcomes.” Hospitals must reexamine diagnostic assumptions and ensure culturally appropriate outreach, especially in multiethnic and multilingual regions. Building trust with families through community health workers, interpreters, and inclusive education campaigns strengthens early engagement and adherence to treatment. A 2024 global review in the Journal of Cystic Fibrosis adds, “Inequities in cystic fibrosis care continue to disproportionately affect people of color and those in low-resource settings, from delays in diagnosis to poorer outcomes.” In addition, CF-specific data collection must be improved to reflect racial and ethnic diversity, guiding policy and clinical interventions more effectively. Hospital systems should also explore financial assistance programs and pharmacy access models for costly CF therapies. Leaders must not only ensure access to care—but access to optimal care. By embedding health equity into strategic planning, administrators can create sustainable, inclusive CF care frameworks. Awareness without equity fails the populations who need it most.

During Cystic Fibrosis Awareness Month 2025, hospitals are called to lead by example in the rare disease space. That means expanding capacity for complex respiratory care, improving transitions across the lifespan, and championing equity at every level. Hospital leaders should consider hosting CF-focused grand rounds, partnering with local CF organizations, and spotlighting patient stories through internal communications. Executive teams can also conduct systemwide reviews of rare disease policies, workforce training, and community engagement. Embracing this observance is not merely symbolic—it’s strategic. As healthcare shifts toward precision care, cystic fibrosis serves as a model for how hospitals can address high-burden, low-incidence conditions. Moreover, it reminds us that behind every rare disease is a resilient community deserving of recognition, access, and hope. Together, let us transform awareness into sustained action—advancing a future where no patient is left behind because of the rarity of their diagnosis.

Discover More

Hospitals and health systems seeking to strengthen their CF and rare disease strategy can begin by leveraging cross-sector partnerships, benchmarking clinical standards, and addressing social determinants of health. For additional resources, see the links below:

Internal Resources

• Hospital Innovation Strategy for Rare Disease Care
• Full 2025 Health Observance Calendar

External Resources

• Cystic Fibrosis Foundation (CFF) – National leadership in CF care standards, research, and support services
• Health Resources and Services Administration (HRSA) – Federal programs serving medically underserved communities
• Cystic Fibrosis Foundation. (n.d.). What is cystic fibrosis? Retrieved June 19, 2025, from https://www.cff.org/intro-cf/about-cystic-fibrosis
• Russo Krauss A, Lastrucci A, Petrini V, Gualtieri N, Ricci R, Tomaiuolo M, Giansanti D, Bartoloni A, Bresci S. Integrating Case Management in Cystic Fibrosis Units: A Key to Enhancing Patient-Centered Care. Healthcare (Basel). 2025 Apr 22;13(9):965. doi: 10.3390/healthcare13090965. PMID: 40361743; PMCID: PMC12071318.
• Southern, K., Burgel, P. R., & Castellani, C. (2023). Standards for the care of people with cystic fibrosis (CF). Journal of Cystic Fibrosis. Advance online publication.
• Castellani, C., Simmonds, N. J., Barben, J., et al. (2023). Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis. Journal of Cystic Fibrosis. Advance online publication.
• Southern, K. W., Castellani, C., Lammertyn, E., et al. (2023). Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis. Journal of Cystic Fibrosis, 22, 17–30.
• Leung, D. H., Heltshe, S. L., Borowitz, D., et al. (2017). Effects of diagnosis by newborn screening for cystic fibrosis on weight and length in the first year of life. JAMA Pediatrics, 171(6), 546–554. https://doi.org/10.1001/jamapediatrics.2017.0003
• Munck, A., Boulkedid, R., Weiss, L., et al. (2018). Nutritional status in the first 2 years of life in cystic fibrosis diagnosed by newborn screening. Journal of Pediatric Gastroenterology and Nutrition, 67, 123–130.
• Martins, J. P., Forte, G. C., & Simon, M. (2018). The role of neonatal screening in nutritional evolution in the first 12 months after diagnosis of cystic fibrosis. Revista da Associação Médica Brasileira, 64(12), 1032–1037.
• Coffey, M. J., Whitaker, V., Gentin, N., et al. (2017). Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era. Journal of Pediatrics, 181, 137–145.e1.
• Cystic Fibrosis Foundation. (2022). Cystic Fibrosis Foundation patient registry 2021 annual data report.
• Martiniano, S. L., Elbert, A. A., Farrell, P. M., et al. (2021). Outcomes of infants born during the first 9 years of CF newborn screening in the United States: A retrospective cystic fibrosis foundation patient registry cohort study. Pediatric Pulmonology, 56, 3758–3767.
• Sanders, D. B., Zhang, Z., Farrell, P. M., et al. (2018). Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis. Journal of Cystic Fibrosis, 17, 528–535.
• Klimova, B., Kuca, K., Novotny, M., & Maresova, P. (2017). Cystic fibrosis revisited—A review study. Medicinal Chemistry, 13, 102–109. https://doi.org/10.2174/1573406412666160608113235
• Burgel, P. R., Burnet, E., Regard, L., & Martin, C. (2023). The changing epidemiology of cystic fibrosis: The implications for adult care. Chest, 163, 89–99. https://doi.org/10.1016/j.chest.2022.07.004
• Bell, S. C., Mall, M. A., Gutierrez, H., Macek, M., Madge, S., Davies, J. C., Burgel, P. R., Tullis, E., Castaños, C., Castellani, C., et al. (2020). The future of cystic fibrosis care: A global perspective. The Lancet Respiratory Medicine, 8, 65–124. https://doi.org/10.1016/S2213-2600(19)30337-6
• Dickinson, K. M., & Collaco, J. M. (2021). Cystic fibrosis. Pediatrics in Review, 42, 55–67. https://doi.org/10.1542/pir.2019-0212
• Case Management Society of America. (2007). Definition of case management. https://www.cmsa.org/who-we-are/what-is-a-case-manager/
• Uittenbroek, R. J., van der Mei, S. F., Slotman, K., Reijneveld, S. A., & Wynia, K. (2018). Experiences of case managers in providing person-centered and integrated care based on the Chronic Care Model: A qualitative study on Embrace. PLOS ONE, 13(10), e0207109. https://doi.org/10.1371/journal.pone.0207109
• Finkelman, A. W. (2001). Managed care: A nursing perspective. Upper Saddle River, NJ: Prentice Hall.
• Joo, J. Y. (2014). Community-based case management, hospital utilization, and patient-focused outcomes in Medicare beneficiaries. Western Journal of Nursing Research, 36(7), 825–844. https://doi.org/10.1177/0193945913514140
• Joo, J. Y., & Liu, M. F. (2021). Understanding nurse-led case management in patients with chronic illnesses: A realist review. Western Journal of Nursing Research, 43(2), 182–195. https://doi.org/10.1177/0193945920943827
• Huston, C. J. (2002). The role of the case manager in a disease management program. Lippincott’s Case Management, 7(6), 221–227. https://doi.org/10.1097/00129234-200211000-00003