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Exploring the Experiences of Patients with Rare Disease in Pennsylvania

Akhtar, Saad (2024) Exploring the Experiences of Patients with Rare Disease in Pennsylvania. Master's Thesis, University of Pittsburgh. (Unpublished)

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This thesis explores the experiences and barriers facing patients with rare diseases in Pennsylvania, utilizing data from the Pennsylvania Rare Disease Advisory Council's 2020 Rare Disease Needs Assessment Survey. The study examines how respondents' demographic factors, including race, gender identity, insurance type, and rare disease type, correlate with their experiences regarding diagnostic timelines, healthcare spending, and perceptions of timely diagnosis.
Analysis of demographic data unveiled that a significant majority of respondents hailed from urban counties (73.3%) and primarily reported a single primary diagnosis (74.5%). The prevalence of private commercial health insurance (41%) among respondents outweighed government-funded sources such as Medicaid or Medicare (14.6%). Although the data offered a comprehensive snapshot of respondents' demographic landscape, it also exposed potential biases in representation, notably among minority racial groups and individuals from the transgender and nonbinary community in Pennsylvania.
Chi-square tests conducted on various facets of rare disease patients' experiences yielded significant insights. The analysis uncovered a notable relationship between diagnostic time intervals and the number of incorrect diagnoses, emphasizing the critical role of accurate diagnoses in patients' diagnostic journeys. However, no statistically significant relationship emerged between age and annual spending on rare disease care, indicating a multifaceted interplay of factors influencing healthcare spending across different age groups.
Further exploration looked into the correlation between gender identity and perceptions of timely diagnosis, revealing potential disparities in patient experiences based on gender identity. Additionally, the analysis of health insurance types and perceptions of timely diagnosis illuminated differences in healthcare access and perceptions among individuals with varying insurance coverage.
Overall, this study provides valuable insights into the challenges and needs of rare disease patients in Pennsylvania, underscoring the importance of tailored support, enhanced diagnostic processes, and equitable access to healthcare services. The findings highlight the necessity for patient-centered care, comprehensive diagnostic strategies, and targeted interventions to address the diverse needs and challenges encountered by rare disease patients throughout their diagnostic odyssey. Future research and interventions grounded in these findings have the potential to enhance support and outcomes for individuals with rare diseases, not only in Pennsylvania but also globally.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Akhtar, Saadsaa334@pitt.edusaa334
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairDurst, Andreaadurst@pitt.eduadurst
Committee MemberElias, Thistleelias@pitt.eduelias
Committee MemberChernus, Jonathan Mjonchernus@pitt.edujonchernus
Committee MemberVockley,
Date: 14 May 2024
Date Type: Publication
Defense Date: 18 April 2024
Approval Date: 14 May 2024
Submission Date: 26 April 2024
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 71
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Public Health Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: n/a
Date Deposited: 14 May 2024 18:44
Last Modified: 14 May 2024 18:44

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