Table 4:

Impacts on Parent Psychological and Emotional Well-being

	Diagnosed	Undiagnosed
Positive Impacts	D28: I: Knowing that your son has a diagnosis, how has that changed how you see your son? P: I have more affection with him. I try to take care of him more. (Mother, Hispanic) D22: Last November when I finally received her diagnosis…you can’t imagine what joy she gives me. Because I see her… when I saw one of the photographs they have, I saw, imagined “babies” and I can tell you “Look this is my C when she was that age.” The hands, the little feet, there are many similarities that to me another window when I could finally have that information and to give thanks. (Mother, Hispanic) D19: We had the cry over [it], but the rest was a relief that, you know, we both wondered did we do something wrong, you know, especially [my wife], so it was such a burden lifted.(Father, White) D04: I was like super relieved because, again, like my biggest fear was that our other children like maybe when they were older were going to all of a sudden stop talking or stop walking or…so like they gave me peace of mind that you know what, our kids are going to be healthy…. I think that was like the biggest because I thought like what if like our grandchildren are going to be born like this. (Mother, Hispanic)	U03: We have a team that’s really solid and we…like the whole time we thought about the UDN is like there’s a possibility of more information, that’s great, but, you know, like it’s more for like the documentation and like research and, you know, maybe helping somebody in the future…I would like to think that our stuff with [our daughter] is going to make it to where, you know, there might be more out there for another kid that has stuff like this. I: Yeah. Definitely. So in a way, like the helping other people, learning what we can, that really makes you all feel good and feel optimistic? R: It really does. (Father, Hispanic) U23: Either way there will be another opportunity. Science grows science…maybe one day they find something for my son…. For me nothing is useless because I am fighting for my son’s illness and give him at best a better quality of life, for me it’s good…for me is not wasting time and it’s also not a bad thing. (Mother, Hispanic)
Mixed Impacts	D27: What can I say? It’s really difficult. We feel relieved. We feel relieved with D, because for D we said: “Okay, they found something, they found a diagnosis.” But it was sad. We were content hearing the news, on one side, because we had found something, they had found the diagnosis, but we were sad because of the situation. And it was a situation that we took days to take in, the situation, what it was, when the doctor explained it to us. (Mother, Hispanic) D17: Well, I always had this hope that it was just going to be like something so simple, and they’re going to figure it out, and it’s going to be a nutritional deficiency and there’s going to be a simple vitamin, you know, [laughter] that he takes daily… So it was bittersweet because we were happy to know what it is because that provides the opportunity for clinical studies and obviously getting involved in the organizations that specifically research this gene, but then at the same time it’s like the hope for it just to be something simple was gone. (Mother, White) D14: You know, there’s sadness because it’s like, okay, yeah, you can turn the corner, but again, you’ve got this thing that’s not going to get better. It’s not…it’s probably not going to stay the same and there’s going to be, you know, more challenges that lay ahead base on what we know at this point, or what we knew at the time, because you know, again, that neurodegenerative condition. (Father, White)	U20: Well, I was a little frustrated because I expected them to find the answer to of what they too were thinking…. . Ah what can tell you then, my favorite part was when I saw that the doctor was sincerely interested. Yes, that’s what I have been pleased with… that they are still working on it. (Mother, Hispanic) U07: I think we all were sort of bummed like, eh, you’re not getting any additional answers…But you know, we understood that all along and that…at least, we got a pathway for checking in. (Mother, White)
Negative Impacts		U09: Honestly as awful as it is to think your kid might have something life-threatening or whatever, I just wanted an answer. So it was disappointing. I just wanted a name, so that I could then work [from] there. (Mother, White) U12: What’s unfortunate to hear is them say well I don’t want to have children. R: So that’s the kind of sad part is they already know like, well, since they know they have, you know, they’re carriers for something and then they have something that they don’t know what it’s called – there’s not a name to what they have…So it’s been kind of sad to see that. (Mother, Hispanic) U25: I, to be honest, feel really desp… They haven’t given me an answer, a diagnosis…I feel desperate. [the researchers] should put themselves in the parents’ shoes, that we’re desperate for them to find a solution for our children’s illnesses. (Mother, Hispanic)
No Impacts	D06: The significance was just kind of, I don’t know, I had stopped thinking that we could figure something out for her at that point. I kind of realized at some point that we were just going to get some letters and numbers and that they probably wouldn’t lead to anything that would cure her seizures. (Mother, More than One Race/Ethnicity)	U08: Pretty well…I knew going into this there was slim chance of finding an actual diagnosis. (Mother, Hispanic)