Background:
In 2020, as the devastating COVID-19 pandemic highlighted the additional struggles of
patients with rare diseases and people of color, the Black Women’s Health Imperative
brought together rare disease experts, patient organizations, health and diversity advocates,
and industry leaders with a deep knowledge of the medical, industry, regulatory, and
cultural challenges facing historically marginalized populations with rare diseases came
together and established the Rare Disease Diversity Coalition (RDDC).

There are more than 7,000 different rare diseases, of which 95% lack any FDA-approved
treatment. Rare diseases impact small patient populations of fewer than 200,000 in the
United States—sometimes far fewer. These smaller patient populations make diagnosing and
accessing clinical care and treatments difficult.

Individuals living with rare diseases commonly already face a protracted ‘diagnostic odyssey.’
According to the National Organization for Rare Disorders (NORD®), more than 1 in 4 rare
disease patients spend seven years or more until they receive a correct diagnosis, up from
15% thirty years ago.2 In addition, more than 1 in 3 rare disease patients receive at least one
misdiagnosis during their diagnostic journey.

RDDC believes firmly in collaboration and leveraging the input of stakeholders, including
rare disease patients and families, who experience daily the struggles of these issues;
patient organizations, who represent and unite those most affected; clinicians and researchers,
who drive understanding and evidence across the medical community; private-sector groups,
which play a crucial role in supporting research; and policymakers, who drive changes in
government policy that lead to progress. To tap into the collective expertise and experiences
of various stakeholders, RDDC convened their Patient and Caregiver workgroup in 2022 to
identify missing data specific to the patient journey that would gain insights into
the unique perspectives and challenges faced by patients and caregivers from historically
underrepresented populations, impacted by rare diseases for those concerned by accessing
and affording healthcare.

Collaborating with the NORD® Patient and Caregiver workgroup embarked
on an unprecedented initiative – developing a national survey targeting
underrepresented rare disease patients and caregivers. The primary objective
is to gain profound insights into these individuals’ unique perspectives
and challenges in accessing and affording healthcare. As two esteemed
organizations committed to addressing rare disease disparities, RDDC and
NORD aim to identify and rectify gaps in rare disease diagnosis, care, and
therapy accessibility for diverse and underrepresented patient populations.

Purpose:
This groundbreaking endeavor aims to identify evidence-based tools and interventions
to eliminate health disparities among rare disease patients, particularly those from
underrepresented backgrounds. Recognizing a critical gap in knowledge and understanding
of the experiences of individuals from diverse backgrounds living with rare diseases, RDDC
and NORD have prioritized focusing on underrepresented patients. By concentrating
on underrepresented patients, the intention is to gather essential information that will
facilitate a more profound comprehension of existing gaps and barriers in diagnosis, care,
and treatment access. The workgroup determined a national survey would best serve as a
pivotal data collection effort.

Approach:
The survey’s formulation and review process for national distribution involved meticulous
crafting, drawing on insights and recommendations from the Rare Disease Diversity
Coalition’s Patient and Caregiver Working Group. This esteemed working group
comprises 52 rare disease patients, advocates, and leaders from various sectors, including
nonprofit organizations, professional societies, medical centers, and drug manufacturers.
The collaborative effort resulted in a mixed-method study encompassing qualitative
and quantitative questions. The survey delved into key areas, including demographic
information, rare disease attributes, and individual perspectives and experiences across
several themes:

1. Diagnostic Journey: Understanding the challenges and nuances of the journey
individuals with rare diseases undertake to receive a diagnosis.
2. Health Insurance Status: Investigating the respondent’s current health insurance
status, recognizing insurance’s pivotal role in accessing healthcare services.
3. Healthcare Coverage, Affordability, and Utilization: Assessing the adequacy of
healthcare coverage, affordability of services, and the extent to which individuals
utilize available healthcare resources.
4. Healthcare Experiences: Exploring individuals’ overall experiences within the
healthcare system, identifying strengths and areas for improvement.
5. Emotional Health Issues: Recognizing the emotional toll that rare diseases can take
on patients and caregivers, focusing on mental health and well-being.

The inclusivity of the survey was a crucial aspect, designed to welcome participation from
anyone personally impacted by rare diseases. This encompassed individuals with diagnosed
rare diseases, those currently undiagnosed but suspected to have a rare disease, and
current and former caregivers of individuals with or suspected to have a rare disease.

Read the full Executive Summary here!