Table 2.
Illustrative quotes per theme.
| Theme | Representative quote | Quote # |
|---|---|---|
| Theme 1: Getting a genetic diagnosis | ||
| Need for a diagnosis | “When she was 4 and a half years old we were walking around like crazy here on the island, my mother and I, to see if we could get help to send her abroad maybe or… move forward a bit.” [Child aged ≥12 years at diagnose, ID+, #15] | 1.1 |
| Impact of the genetic diagnosis | “I think it was very good to do it, because then you know and… then you know also that it is something genetic… and you have to deal with it, learn how to deal with it. There is nothing now in the world that… turns… removes a gene and… makes everything okay again. (…) No, he won’t be cured, he is just like this, accept it and… yeah. Deal with the problem.” [Child aged <1 year at diagnose, ID−, #18] | 1.2 |
| “If I eh… was younger and would have wanted another child after all then… it’s up to me… the choice remains mine. I think that’s a good thing. So if I still want to engage in that… that battle.. with another child… or I choose not to.” [Child aged <1 year at diagnose, ID−, #18] | 1.3 | |
| “So… during the pregnancy… I didn’t have a nice pregnancy. So those were my feelings of guilt. Maybe… that’s why the child is… like that. But yeah, it was a relieve to hear that it was a fault of nature… that… yeah, from conception it was like that.” [Child aged 8–12 years at diagnose, ID+, #4] | 1.4 | |
| “Sometimes I think, yeah, then… it is our… fault that [daughter] is like that, because it was the… DNA of… of him and me, that something went wrong there, right? Then… I feel guilty that [daughter] is like that. Some days.”[Child aged 4–8 years at diagnose, ID−, #12a] | 1.5 | |
| Theme 2: Coping, support and perceived social stigma | ||
| Acceptance, positive reframing and a focus on being normal | “Yeah it was just nor… yeah I just accepted it, because in the Netherlands they also explained that I have to… accept the children how they are, really. Because… you cannot do anything about it, because if you… where the children are going to live they have to get the same guidance, it is just intensive guidance.” [Child aged 8–12 years at diagnose, ID+, #13] | 2.1 |
| “As a parent… you don’t accept it so… so fast, because you think: all my children are healthy and now you have a syndrome? And I looked immediately at my son: what are they looking at, what do they see in him that they say he has [name syndrome]? (…) They said, no we see it in his eyes, we see it in… in the eyebrow. But I see nothing.” [Child aged 1–4 years at diagnose, ID+, #22] | 2.2 | |
| “With my daughter I have something like, until now eh… she is a very strong child, eh… and that won’t change. Eh… and whatever she has.. she will go through with it, with life, with grace and strength.” [Child aged 1–4 years at diagnose, ID−, #20] | 2.3 | |
|
Interviewer: “And how was that? To hear it, about the [name syndrome].” “That was something new for me, but… I said… my child has nothing so… And he is healthy so… I am not going to eh… worry about it.” [Child aged <1 year at diagnose, ID−, #3a] |
2.4 | |
| Coping through faith and religion | “I believe in God and I also think that… he doesn’t give you something that you cannot handle, so. (…) If He… wants it that way… everything will be okay.” [Child aged 1–4 years at diagnosis, ID−, #21] | 2.5 |
| “You keep hoping that the child… gets cured. But it is… it is hard for someone, I have to say, working in healthcare, that you know eh… how the… things work. That you say, okay eh… being able to be cured is really… a miracle. Because yeah… books say this and… and faith says that.” [Child aged <1 year at diagnosis, ID+, #8a] | 2.6 | |
|
“No because I think that my… my daughter has… no [name syndrome]. (…)” Interviewer: “And why do you think that?” “Just positive. Because I… I… also believe in God… God… does everything. God does… things that we cannot… not do.” [Child aged <1 year at diagnose, ID−, #17] |
2.7 | |
| Family and peer support | “We share a lot of information together and eh… it is… it is pretty different… if you talk with other parents. It’s more like, they understand it better and they come eh… eh… they don’t give you this… you get more… their solutions, their ideas are more workable than others, you know. That’s it. And it is… and… it doesn’t sound like nonsense.” [Child aged <1 year at diagnose, ID−, #18] | 2.8 |
| Perceived social stigma | “Because here on [name island] the people are… they are ashamed or they have eh… they hide children with special… I walk with [name son], I walk everywhere. For here it is a bit of a… taboo. (…) You don’t see eh… children on the street. Only at the pediatrician.” [Child aged 8–12 years at diagnose, ID+, #5] | 2.9 |
| “Here it is… here it is a taboo. Many people here – it begins especially with the parents – they don’t accept that they have a special child. To… seek proper help. My husband never accepted that [name son] is special. He always used to say, the child has nothing, the child just needs to get a good beating.” [Child aged 8–12 years at diagnose, ID+, #4] | 2.10 | |
| “Here we have a culture… a very different culture, let’s say than in the Netherlands. Here if someone says, for example, I am talking with you now, I tell you that my daughter has this disease, after… after a few days, the whole neighbourhood knows it. (…) It’s better to keep it a secret, a family secret, than telling someone else.” [Child aged 8–12 years at diagnose, ID−, #10] | 2.11 | |
| “If I… if I compare it for example with the Netherlands… people with an intellectual disability they get… guidance in terms of housing, employment, but here on [name island] we are not… open… for that. People with a… with a… disability they don’t get a job. And I don’t want that for my son.” [Child aged 8–12 years at diagnose, ID+, #4] | 2.12 | |
| “Because they say that kidneys are a… a… a disease of the eh (…) a disease of eh… being frightened. (…) They said that kidney diseases are a disease of fear. I don’t know if that is true.” [Child aged 4–8 years at diagnose, ID−, #12b] | 2.13 | |
| Theme 3: Living on an island | ||
| Availability and quality of healthcare, support services and education | “For special children there is not… enough guidance. At his school, at the school of [name son] there is no speech therapy. No physio[therapy]. Eh… every time there is a vacancy… vacancy… or… And I have to get speech therapy outside school. I have to eh… physiotherapy I have to look for myself. So I am on the street often with eh… outside school. For [name son].” [Child aged 8–12 years at diagnose, ID+, #5] | 3.1 |
| “Eh… yes sometimes… sometimes, not always but sometimes you feel that eh… you want to do a lot of things with your child but yes… it is not easy because eh… that… here on [name island] there are not so many things for a special child and yes… sometimes you really want to do more things with your child, but… there is not that much.” [Child aged 8–12 years at diagnose, ID+, #16] | 3.2 | |
| Being the only one on the island | “You know what… you feel lonely… I know… there is no one here I can go to, because he… he is not Down syndrome, he doesn’t have… if he would have had Down syndrome, we would have had a lot on [name island]. Then I could have told people, just: hey, how is it going with the care, how… But… [name syndrome] is alone.” [Child aged <1 year at diagnose, ID+, #8a] | 3.3 |
| Theme 4: Needs regarding genetic services | ||
| Satisfaction with genetic services | “Because we live here and that… that hospital or laboratory is in the Netherlands, so… for me, on that basis, it was still good. That we didn’t have to go back and forth with… with all those things.” [Child aged 8–12 years at diagnose, ID−, #10] | 4.1 |
| “Imagine that I knew I was a carrier, that he was a carrier, you know… then we might have eh… yeah… looked for help to… I don’t know… to have a healthy child, together, you know, if we might have had to go to the Netherlands, I… I don’t know, but we didn’t have that option. I didn’t have an option.” [Child aged <1 year at diagnose, ID+, #8a] | 4.2 | |
| Information needs | “I… don’t know if a person with [name syndrome] if he… when she gets children… that information I don’t have… I don’t have it clear you know. (…) Sometimes I think that maybe… if it… it… it depends on with whom she gets a eh… child. (…) I have to get more information about that” [Child aged 4–8 years at diagnose, ID−, #11] | 4.3 |
ID intellectual disability, + present, −absent.