Themes and examples of the burdens of illness, caregiving, and treatment in severe LAD-I
| Burden | Themes | Examples |
|---|---|---|
| Illness | Frequent and varied infections | Rashes, skin/mucosal lesions, and infections in the lungs, ears, gums; poorly healing umbilical cords |
| Physical restrictions | Avoiding water parks, beaches, other outdoor activities; limiting sports; preventing contact with pets | |
| Social restrictions | Limiting visitors to the home; avoiding daycare; homeschooling | |
| Journey to diagnosis marked by a lack of information | Failure of frequent severe infections and slow healing wounds to drive investigation and diagnosis; lack of resources, guidance, and information pre- and post-diagnosis | |
| Caregiving | Rearranging life | Accommodating doctor and hospital visits, medication schedules; becoming a home-based educator; changing jobs, pausing, reducing, or rearranging (e.g., work from home, freelancing) work |
| Financial strain | Lost wages and opportunities from declining or avoiding job advancements; lost wages from pauses in employment; costs of medical equipment, treatment, hospital stays, travel and accommodation associated with treatment; private insurance costs | |
| Isolation and alienation | Avoiding crowded spaces and events, family gatherings, and holidays; accessing nature in uncrowded space only; losing contact with friends and family; lack of connection with other families experiencing LAD-I | |
| Ever-present worry and uncertainty | Worry pre-diagnosis about the cause of illness, post-diagnosis about treatment efficacy, risks, and preventing infections; general hypervigilance; concerns regarding impact on the children (both those with and without LAD-I); uncertainty about their children’s futures | |
| Treatment | Allo-HSCT | Searching for a bone marrow match; complexity of allo-HSCT process; managing allo-HSCT complications; side effects from post-transplant treatments; waning efficacy |
| Investigational gene therapy | Generally positive outcomes, despite a long and complex process; required relocation for the duration of treatment; uncertainty about durability and longer-term effects given the novelty of gene therapy | |
| Prophylactic antimicrobials | In one case, in the absence of a family donor match for allo-HSCT, the clinician recommended this approach; parents indicated it is not a long-term or complete solution |
| Burden | Themes | Examples |
|---|---|---|
| Illness | Frequent and varied infections | Rashes, skin/mucosal lesions, and infections in the lungs, ears, gums; poorly healing umbilical cords |
| Physical restrictions | Avoiding water parks, beaches, other outdoor activities; limiting sports; preventing contact with pets | |
| Social restrictions | Limiting visitors to the home; avoiding daycare; homeschooling | |
| Journey to diagnosis marked by a lack of information | Failure of frequent severe infections and slow healing wounds to drive investigation and diagnosis; lack of resources, guidance, and information pre- and post-diagnosis | |
| Caregiving | Rearranging life | Accommodating doctor and hospital visits, medication schedules; becoming a home-based educator; changing jobs, pausing, reducing, or rearranging (e.g., work from home, freelancing) work |
| Financial strain | Lost wages and opportunities from declining or avoiding job advancements; lost wages from pauses in employment; costs of medical equipment, treatment, hospital stays, travel and accommodation associated with treatment; private insurance costs | |
| Isolation and alienation | Avoiding crowded spaces and events, family gatherings, and holidays; accessing nature in uncrowded space only; losing contact with friends and family; lack of connection with other families experiencing LAD-I | |
| Ever-present worry and uncertainty | Worry pre-diagnosis about the cause of illness, post-diagnosis about treatment efficacy, risks, and preventing infections; general hypervigilance; concerns regarding impact on the children (both those with and without LAD-I); uncertainty about their children’s futures | |
| Treatment | Allo-HSCT | Searching for a bone marrow match; complexity of allo-HSCT process; managing allo-HSCT complications; side effects from post-transplant treatments; waning efficacy |
| Investigational gene therapy | Generally positive outcomes, despite a long and complex process; required relocation for the duration of treatment; uncertainty about durability and longer-term effects given the novelty of gene therapy | |
| Prophylactic antimicrobials | In one case, in the absence of a family donor match for allo-HSCT, the clinician recommended this approach; parents indicated it is not a long-term or complete solution |
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