Patient and Family Experiences of Lysosomal Storage Diseases: A Qualitative Interview Study
Bibliographic record
Abstract
Abstract Background Patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from a variety of challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens. All of these challenges significantly impact people’s quality of life, yet they remain obscure and have not been the subject of comprehensive analysis. Thus, we conducted qualitative interviews with Canadian patients living with LSDs and their families to enrich and advance current understanding of their experiences with rare-disease management and health systems navigation in order to support patient-focused rare disease policies and programs and improve health outcomes of the 2.8 million Canadians affected by rare diseases. Methods This study employed a qualitative research design with inductive thematic content analysis. The data for this study was collected using semi-structured interviews. Thirty Canadian participants were interviewed in person or remotely via video chat service to allow for an interactive discussion and the acquisition of rich, comprehensive data relating to the insights and perceptions of people living with LSDs. Results Between April and November 2018, 30 participants (16 patients and 14 parents of children with LSDs) with experiences of nine different types of LSDs and living in seven Canadian provinces were interviewed. Five themes were identified and categorized using comprehensive thematic analysis for each interview. These themes were the complexity of the diagnosis process; navigation of healthcare systems; the psychological, social, and financial implications of LSDs; access to social support services; and access to orphan drugs. Conclusion With regards to participants’ experiences with patient care, the study results highlight the importance of establishing a rare-disease strategy and bridging the gaps that currently exist between health and social care for patients with rare conditions. These findings reveal that the process of accessing orphan drugs is extremely complex and convoluted, and patients’ access to appropriate healthcare and social services are subject to significant delays. In addition, the study’s findings illuminate a lack of coordination between all aspects of rare-disease care, including medical and social support services. Policymakers should utilize these results when developing future policies and programs to employ a holistic approach to rare-disease patient care.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.014 | 0.020 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.019 | 0.011 |
| Scholarly communication | 0.005 | 0.004 |
| Open science | 0.003 | 0.006 |
| Research integrity | 0.002 | 0.004 |
| Insufficient payload (model declined to judge) | 0.005 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".