Table 1 Domain 1 representative quotes.
From: “It’s a Godsend”: Parental experiences of genomic testing for paediatric inborn errors of immunity
Theme/subtheme | Representative quote |
|---|---|
Diverse dimensions of distress | |
Initial and sustained trauma | “A very traumatic night [Bonnie’s initial hospitalization]. It’s up there. You know, I’ll remember that like the night my dad died…” (Mother of Bonnie, 8-month-old, diagnostic result) “[participant crying] …it doesn’t matter how many times you say it [child’s medical journey], it still just happens to trigger that emotional reaction.” (Mother of Indiana, 4-month-old, diagnostic result). |
Grief | “You’ll be grieving the future of what you had in your head at that time…that was probably the biggest thing … it’s not just processing what’s going to happen, but it’s also if you had an idea in your head about what that child’s life looked like or just simple things like what Christmas is going to look like. That can all change and sometimes there’s a lot of grief that goes along with that.” (Mother of Indiana, 4-month-old, diagnostic result) |
Guilt | “Definite guilt from our point of view of [Frances’ father] and I. But as lots of people have told us, like it’s not our fault and then it’s not our parents’ fault… but I mean, we’ll forever feel that.” (Mother of Frances, 11 years old, diagnostic result) “…whether rightly or wrongly I feel like a failure, you feel like you second guess absolutely everything you’ve done, I second guessed everything, even in pregnancy… And then the thought of it being a genetic thing, it made me feel guilty as well.” (Mother of Samuel, 8-months-old, non-diagnostic result) “I’ve got this whole bated breath about what’s happening with my sister’s daughters [undergoing carrier testing] … I’m really praying that they don’t have it [familial variant] and they’re not carriers… at the time I’m celebrating, could be their grief time. … it just draws it out and rather than just closing it and then you feel like you’ve got all the experience to be an emotional support to them and I’m just back in it then.” (Mother of Max, 3 years old, diagnostic result) |
The ripple effect | |
Social Isolation | “… we’re quite social, a lot of friends, so we had to stop doing that for quite a while. Obviously, we couldn’t go to our friends’ barbecues and social events so that was non-existent for quite a while …” (Mother of Frances, 11 years old, diagnostic result) “It was a huge disruption [relocation from regional town], it was a huge stress…my husband was still trying to work nine to five at that point as well…my husband was not coping with us being gone for that length of time and not knowing when we’re coming back…” (Mother of Samuel, 10-months-old, non-diagnostic result) “There’s a lot more planning on the process [of doing an activity] we can’t just go for a long weekend or let’s go and do something. We have to plan when his treatment’s going to be… We have to think about, [do] we take stuff with him or do we go to the hospital…you just don’t know about it until you email the hospital…”(Mother of Theo, 6 years old, non-diagnostic result) |
Impact on family dynamics | “No I don’t want tell anyone [carrier status], I think it was mostly because I didn’t want the grandparents to blame- to play the blame-game.” (Mother of Indiana, 4-month-old, diagnostic result). |
Financial impact | “Financially it’s been tough. We buy her special formula and her medication, hospital parking…” (Mother of Indiana, 4-months-old, diagnostic result) “…we probably have ended up borrowing quite a bit of money just for health, that’s a big part of our life.” (Mother of Clementine, 12 years old, diagnostic result) |
Social and psychological impact for child | “It’s [IEI] really made her development quite slow… she has missed a heap of school… and especially with COVID like the whole year they didn’t go [to school]” (Mother of Clementine, 12 years old, diagnostic result) “We don’t want to highlight it to kids at school that he’s got issues because obviously then kids start picking on and making issues of it…. And socially that seems to be more impactful [for Theo] than the immune side of things…(Mother of Theo, 6 years old, non-diagnostic result) “ [Frances] has changed a lot in the way of friendship circles…obviously she is not at school, so having that and then just friends, just that contact with friends and just not being able to be social.” (Mother of Frances, 11 years old, diagnostic result) “To do some of the sessions [IRT] we got to a point we basically had to pin him [Theo] down to do it.” (Father of Theo, 6 years old, non-diagnostic result) |
Seeking child psychosocial support | “So I was wanting to explore if we should be seeing a psychologist for him just to make sure there’s no long-term mental issues from doing something so different. But it hasn’t been too successful so far.” (Father of Theo, 6 years old, non-diagnostic) |
Information needs | “A sourcing of information about your condition that is correct and just look here for what you need, that would be helpful…and we did get that to an extent, but something as simple as what’s the life expectancy? I don’t think we got that. I was finding that out from medical journal… but because you have these kinds of questions, which then you spiral…and you just end up Googling… (Father of Max, 3 years old, diagnostic result) “I think the hardest thing is the uncertainty with the whole thing. There are no answers, and you have no idea of the outcome. (Father of Theo, 6 years old, non-diagnostic result) “…But I met so many people during that time [child’s hospitalization] …I was given lots of information, big folders, big books. And I know that everyone had their job to do, but it was too much…” (Mother of Meg, 12 years old, non-diagnostic result) |
Balancing children’s presence and participation | |
Appropriate involvement of children | “I would say she was involved [decision for genomic testing], but she didn’t understand what she was doing” (Mother of Hermione, 12 years old, diagnostic result) “We’re really happy with really with our doctors, but they don’t necessarily explain things to the kids well… no one’s really ever explained to him what’s going on.” (Mother of Theo, 6 years old, non-diagnostic result) “… every appointment we have to have [child] with us, so it doesn’t leave much room to then ask questions. And then I don’t want to ask some of them in front of him because he listens. He hear(s) everything. [They] may not be watching and watching the conversation happen, but he’s listening to everything, and he’ll ask you a question.” (Mother of Theo, 6 years old, non-diagnostic result) |
