Rare Disease Patient Needs Assessment Survey Findings
Explore the findings of the Rare Disease Patient Needs Assessment Survey, providing a revealing glimpse into the intricate struggles of Pennsylvania's rare disease community. Uncover challenges in the diagnostic odyssey, where significant delays and hurdles in accessing timely care are prevalent. Transportation obstacles and the profound impact on quality of life underscore critical gaps in support systems. The economic strain, revealed through personal sacrifices, emphasizes the urgent need for empathy, awareness, and advocacy. Despite these hardships, resilient voices echo, underscoring the paramount importance of addressing the unmet needs of the rare patient community. Please note that not every finding is outlined in the microsite and report. PARDAC remains dedicated to leveraging all findings when advocating with key stakeholders, ensuring no aspect of the rare disease landscape is overlooked.
A Journey to Diagnosis
Navigating the path to a rare disease diagnosis is often a challenging and an emotionally taxing journey. Astonishingly, 45.2% endured the bewildering uncertainty of living with undiagnosed symptoms for two or more years, and a significant 29.6% endured this uncertainty for over five years. For 44.2%, the quest for answers led them to consult five or more healthcare providers, with 15.9% bravely traversing the labyrinth of diagnosis through more than ten specialists.
Remarkably, 68.3% of those receiving their diagnosis two years after initial symptoms encountered a maze of five or more healthcare providers before the final revelation. Despite the arduous diagnostic odyssey, a resilient 79% affirm having access to the crucial information about their condition. Delving into diagnostic timelines, a poignant 16% found solace in a swift diagnosis within six months after consulting 1 or 2 providers (n=163). Contrastingly, 38%, symbolizing fortitude and persistence, received their long-awaited diagnosis after engaging with five or more providers over an extensive period beyond six months (n=407).
45%
Went Undiagnosed for Two or More Years
Respondents indicated they did not receive a rare disease diagnosis for two or more years after their first symptoms appeared.
68%
Needed to see Five or More Providers
Survey respondents who received a final diagnosis two years after their first symptoms report seeing five or more healthcare providers before their final diagnosis.
How many Healthcare Providers did you see before the Final Diagnosis?
How Long After the First Symptoms Did it Take to Get an Accurate Diagnosis?
Transportation Obstacles in Pennsylvania's Rare Disease Landscape: Addressing Access and Advocacy Challenges
In a state marked by urban and rural landscapes, transportation emerges as a significant hurdle for participants in our survey. Nearly half of them (about 44%) grapple with mobility challenges affecting their community engagements, be it appointments, work, or school. Approximately three in ten individuals (30%) embark on journeys of over 50 miles for healthcare, while almost three in ten (29%) traverse state borders for medical care.
Despite these daunting transportation trials, 70% of respondents manage to access care within the Commonwealth of Pennsylvania. This underscores the state’s role as a prominent healthcare provider for the rare disease community, with two of its hospitals, Penn Medicine/Children’s Hospital of Philadelphia and UPMC Children’s Hospital of Pittsburgh Center for Rare Disease Therapy, earning NORD's distinction as Rare Disease Centers of Excellence.
30% of Respondents
or about three in ten travel more than 50 miles for healthcare.
439 of Respondents
44% of respondents faced mobility hurdles in their communities, impacting appointments, work, and school.
Elevating Perspectives: Insights on Quality of Life for Rare Disease Patients
The nuances of Quality of Life (QOL) for rare disease patients, often unspoken and rarely documented, extend to families and support networks. Health-Related Quality of Life (HRQoL) is pivotal in capturing well-being across physical, mental, and social domains, as unveiled by the Council's meticulously crafted survey. Critical findings reveal challenges, with less than half of respondents (approximately 49%) lacking the indispensable counseling support they seek and over 70% uninformed about advocacy organizations or support groups at the time of diagnosis. The extended diagnostic journey highlights the stark reality of lacking necessary support, necessitating compassionate outreach. Encouragingly, about 79% express the newfound empowerment they now feel through access to information about their condition.
Moreover, more than two-thirds, approximately 64%, made significant sacrifices, leaving jobs or reducing work hours due to the rare disease's impact. Nearly half took unpaid leave (about 46%), emphasizing the delicate balance between employment and rare disease demands. Within the economic domain of HRQoL or QOL, the profound impact on financial well-being requires a comprehensive assessment, as does the alarming fact that 82% indicate families have incurred personal costs, underscoring economic strain. As we navigate these challenges, a compassionate and concerted effort is imperative to address the multifaceted dimensions of their lives and alleviate the burdens borne by the rare disease community.
70% of Respondents
were left uninformed about patient advocacy organizations or support groups at the pivotal moment of diagnosis.
46% of Respondents
shared they took unpaid leave due to the impact of their rare disease.
How many Healthcare Providers did you see before the Final Diagnosis?
Have You Had to Leave a Job or Reduce Work Hours Due to Your Rare Disease?
