Addressing Inequities in Rare Disease Care

by Jon Scaccia September 6, 2024

Imagine battling a rare disease that affects your daily life in unimaginable ways—only to find that the healthcare system, designed to help, seems more like an obstacle course. This is the harsh reality for many in the rare disease community, especially those from underrepresented populations like Black, Indigenous, and people of color (BIPOC), LGBTQ+ individuals, and those living in rural areas or below the poverty line. The recently released Inequities in the Rare Disease Community Survey (will download a pdf) sheds light on the unique challenges these individuals face, painting a sobering picture of inequality in healthcare access.

This national survey, a collaboration between the Rare Disease Diversity Coalition (RDDC) and the National Organization for Rare Disorders (NORD), seeks to bridge gaps in our understanding of how underrepresented groups navigate rare disease diagnoses and treatments. By gathering data from over 2,800 respondents, it shines a much-needed spotlight on the barriers to care faced by diverse populations within the rare disease community.

The Long Road to Diagnosis

For many, the road to a rare disease diagnosis is long and winding. In fact, 45% of survey respondents reported having genetic testing, a critical step for many rare disease diagnoses, yet 85% of those who didn’t undergo testing said it was simply never offered to them. This gap underscores a fundamental issue: not all patients have equal access to advanced diagnostic tools like genetic testing, which can mean years—sometimes even decades—of uncertainty and misdiagnosis.

Now imagine this delay compounded by other factors. For those in rural areas, access to a specialist might involve hours of travel, and in some cases, finding a place to stay overnight. Others might face language barriers, financial struggles, or even concerns about how healthcare providers will treat them due to their race or immigration status.

The numbers speak for themselves: nearly 50% of underrepresented respondents reported feeling overwhelmed by managing life and their care, while 38% admitted that their rare disease has affected their ability to work or attend school. But it’s not just the physical toll—many also struggle with emotional burdens. The LGBTQ+ community, for example, reported higher rates of stress, anxiety, and feelings of hopelessness, with 72% overwhelmed by managing care compared to 50% of the overall population.

Financial Struggles Worsen Outcomes

One of the most significant findings from the survey relates to the financial hardships faced by those with rare diseases. Twenty-one percent of respondents couldn’t afford their prescription medications in the past year, and 20% couldn’t afford dental care. These figures increase when looking at underrepresented groups, with 25% of these individuals unable to pay for medications and 23% skipping dental care due to cost. For many, the decision to delay or forgo care isn’t a choice—it’s a financial necessity.

This isn’t just a personal issue. Entire communities feel the ripple effects of untreated rare diseases as patients unable to access care face worsening symptoms, leading to lost productivity, greater dependence on caregivers, and higher healthcare costs in the long term. Addressing these financial barriers is crucial to improving health outcomes for rare disease patients, particularly those in marginalized communities.

Caregiver Challenges: The Silent Suffering

Behind every rare disease patient, there’s often a caregiver juggling their own set of challenges. Caregivers in the survey—who were overwhelmingly female (88%)—reported feeling physically and emotionally exhausted. A staggering 85% of caregivers admitted they were frequently exhausted, and 71% said their life satisfaction had suffered because of their caregiving responsibilities. What’s more, caregivers from underrepresented communities were more likely to report negative impacts on their finances and health than their peers in better-supported communities.

These statistics are particularly troubling given the vital role caregivers play in the rare disease community. Without adequate support, these individuals risk burnout, which can negatively impact the care provided to rare disease patients.

Mental Health: An Overlooked Crisis

Beyond the physical and financial tolls, mental health challenges weigh heavily on rare disease patients and caregivers alike. More than half of respondents indicated that emotional issues such as stress, anxiety, and feelings of hopelessness led them to delay or forgo care in the past year. The situation is even worse for those in the LGBTQ+ community, where 64% reported feeling overwhelmed by stress and anxiety.

The emotional toll of living with a rare disease—or caring for someone who does—is profound. And yet, mental health services often remain out of reach for those who need them most. In fact, 13% of respondents said they couldn’t afford mental health care, with underrepresented groups reporting even higher numbers.

Breaking Down Barriers: What Can Be Done?

The findings from this survey are clear: systemic inequities in healthcare access, affordability, and emotional support are exacerbating the struggles of rare disease patients and caregivers, particularly in underrepresented communities. But where do we go from here?

1. Increase Access to Genetic Counseling and Testing
   With 72% of rare diseases being genetic in origin, ensuring that all patients have access to affordable genetic counseling and testing is essential. Clinicians need to be better educated on when to offer these services, especially to those in underserved communities.
2. Expand Insurance Coverage
   Even though most respondents had health insurance, many found their coverage inadequate. Expanding insurance coverage is a critical step toward reducing health inequities, whether it’s ensuring that Medicaid recipients can access the specialists they need or advocating for telehealth services in rural areas.
3. Address the Financial Barriers to Care
   Nearly one-quarter of respondents couldn’t afford essential services like prescription medications or dental care. Financial assistance programs, such as those offered by NORD’s Patient Assistance Programs, must be expanded to cover these critical services.
4. Provide Mental Health Support
   The mental health crisis facing rare disease patients and caregivers can’t be ignored. Culturally sensitive mental health services and respite care for caregivers are urgently needed to prevent burnout and ensure that patients receive the best possible care.
5. Promote Inclusion and Engagement in Daily Life
   Rare disease patients often feel isolated due to their condition. Community events, like NORD’s Living Rare, Living Stronger Patient and Family Forum, can provide opportunities for connection and support. Encouraging inclusivity in schools, workplaces, and social settings is another crucial step.

Join the Conversation

What barriers to care have you or your loved ones faced when managing a rare disease? How can healthcare systems better support underrepresented populations in the rare disease community? Share your thoughts in the comments or on social media.

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