Graduation Year
2023
Document Type
Thesis
Degree
M.S.P.H.
Degree Name
MS in Public Health (M.S.P.H.)
Degree Granting Department
Public Health
Major Professor
Deborah Cragun, Ph.D., M.S.
Committee Member
Kathleen Pope, M.D.
Committee Member
Thomas McDonald, M.D.
Keywords
LMNA, Rare disease, Social support, Support Resource
Abstract
Pathogenic variants (PV) in the gene LMNA cause autosomal dominant inherited “laminopathies” that can affect multiple different organs, most specifically the heart. Current resources for LMNA patients are sparse and disjointed, leaving a need for a comprehensive resource catering to the wants and needs of the patients. A needs assessment of LMNA support resources was completed through reviewing published literature and existing support resources and conducting 11 semi-structured interviews with individuals who have a PV in LMNA. The Social Support Theoretical Model and thematic analysis of interview transcripts were used to identify discrepancies between the support that affected individuals receive and their desired support. Key support elements desired by affected patients were: relevant educational resources on LMNA explained in layman’s terms, a list of specialists throughout the US and world who have experience treating patients with PVs in LMNA, resources to help aid a patient in managing their own healthcare plan with their provider(s), and others. By identifying gaps between desired and received support from the LMNA resource landscape, we were able to identify which aspects are most beneficial and most feasible to provide in a new web-based support resource for individuals with a pathogenic variant in LMNA.
Scholar Commons Citation
Allen, Dylan M., "Needs Assessment for a Web-Based Support Resource for Patients with a Pathogenic Variant in LMNA" (2023). USF Tampa Graduate Theses and Dissertations.
https://digitalcommons.usf.edu/etd/9842
