Centering Caregivers in Rare Disease: Elevating Their Role in Patient-Centered Research and Advocacy

While any single rare condition affects a relatively small population, collectively, rare diseases impact over 30 million Americans, which represents significant health impacts for individuals and families.¹

At the heart of many patients’ health journeys are caregivers, who take on substantial responsibilities. Caregivers offer crucial daily support and frequently handle complex tasks such as scheduling appointments, managing medications, and making decisions that can be life changing. These duties can be physically and emotionally exhausting, especially for those caring for individuals with medically complex rare diseases. The immense responsibilities that caregivers take on can have profound financial, emotional, and social impacts on their daily lives. Gloria Rodriguez’s journey with her daughter Grace, who has Dravet Syndrome, offers a powerful example.

Gloria’s Caregiving Journey

After speaking with Gloria Rodriguez, a patient advocate with the Dravet Syndrome Foundation and caregiver to her daughter Grace, who has Dravet Syndrome—a developmental and epileptic encephalopathy condition—it is clear that caregiving for a child with a rare disease is all-encompassing and constantly evolving. Gloria’s journey underscores how caregiver burdens shift at every stage of their loved one’s life:

• The diagnostic odyssey: The financial strain began early, even before Grace was diagnosed. Weekly hospital visits and numerous inconclusive tests led to mounting bills, and insurance often failed to cover essential diagnostics, such as genetic testing fully.
• Life after diagnosis: Even after a diagnosis, costs remained high as necessary therapies were not covered by insurance, prompting Gloria and her husband to navigate the complex landscape of Medicaid benefits in her state. It took eight years for Grace to be approved for a Medicaid waiver, which is sadly not uncommon. There are currently around 170,000 people on the Medicaid waiver waitlist alone in their home state.²
• The ongoing care journey: Financial pressures can also be compounded by the lack of paid leave, which meant lost income for Gloria’s family, who took time off while seeking Grace’s diagnosis. Gloria’s older daughter also helps care for Grace, receiving a small state stipend.

In addition to financial strain, there is an emotional and social toll. For instance, some families of color have a generational mistrust of the medical system. Building partnerships and promoting transparency with all levels of medical staff could bridge this gap and help extended families feel safer about their loved one’s participation in research. Gloria believes that better tools for transparently sharing information about Grace’s condition and the need for research could help bridge this gap.

Centering the Caregiver in Research

At the Center for Innovation & Value Research (the Center), we recognize the critical role of caregivers through our Rare Disease Project. This initiative is working to address real-world complexities by exploring ways to enhance comparative effectiveness research (CER) and health technology assessment (HTA) by:

• Incorporating patient-centered outcomes: Value research must center the experiences of patients, caregivers, and families to accurately capture clinical and economic impacts. This may require expanding evaluation methods to consider lived experiences, access to care, and affordability.
• Including family spillover costs: Incorporating the broader financial impact of rare diseases on patients and caregivers can substantially influence cost-effectiveness outcomes, especially for conditions with high caregiving burdens.³
• Informing value-based care: Including the costs for patients and caregivers presents a fuller picture of financial strain and may reveal the added value of new interventions that ease caregiver burdens and improve patient outcomes. 

In Phase 1 of this project⁴, the Center partnered with the EveryLife Foundation for Rare Diseases to convene experts and develop a report with priority recommendations for identifying patient-centered outcomes in rare diseases. The goal is to advance our understanding of patient-centered outcomes in rare diseases.⁵

Gloria’s story reflects the resilience and hope that sustains many caregivers. She reminds herself that note every day will be difficult and that a positive mindset and strong support system are vital. Her journey reinforces the need for additional resources and acknowledgment of caregiver contributions in rare disease management. 

We invite readers to stay engaged and advocate for stronger support systems for caregivers within the rare disease community. Together, we can work toward a more inclusive and equitable approach to healthcare decision-making.

Resources

• The Center for Innovation & Value Research Rare Disease Project
• The Center for Innovation & Value Research Patient-Centered Economic Impacts Project
• Dravet Syndrome Foundation