Table II.

Representative Quotes from Participants

Topic	Quote
(1) Sharing information about a 22q11DS diagnosis with family/friends/others	“At the initial time of diagnosis, it was just to share our sort of shock. And it was a trauma, that’s not too strong of a word, because we were just reeling from it… And he had this great teacher, so we also wanted her support. But I struggled with ‘How do I tell?’ and ‘What do I tell?’ because I didn’t want anybody to look at my child as defective… So I guess we kept it fairly close for a while.”
	“It is what it is… it is part of who he is. And it explains some things, sometimes, about him. But then the other side of that is, I don’t ever want anybody to look at him as defective in any way. Because he’s not.”
	“I have concern, I don’t want [child] to be labeled like that, like a child with a syndrome. So I am more careful. I don’t tell every parent, like all the parents of her friends. Sometimes I still get confused and I don’t know how much detail I should give them or not.”
	“We were pretty much just telling whoever. It was no secret… We were just thrilled to finally have answers… And there were so many people somehow connected with him, from school to friends to family, so there were a lot of people we told because so many people had been involved with him already at that point.”
	“For me, you cannot hide it from people… it’s just my opinion. Because people can help you when they know. And for us, my husband and me, we always tried to be honest with people, that’s what she has, that’s what she was born with.”
	“I guess the two things that I have always wanted people to know is, number one, what [child] has, so that they’ll know why she’s a little quirky and a little different maybe. And number two, I’ve always wanted to educate people, since we found out, about what it is.”
(2) Emotional difficulty of disclosing a diagnosis of 22q11DS to others	Low rating: “I think it wasn’t emotionally hard at that point because we were just so relieved to finally have some understanding of what in the world was going on. We had been so frustrated for so long, not being able to figure out what was happening… I think that hardest part for us is really the emotional side of it coming into play now, more so than when we first found out, because [child] is becoming more aware of it.”
	Low rating: “No [it was not emotionally difficult], not at all. I was emotional more in trying to help her… more that I felt sorry for my daughter not to be understood before. More guilty… for not being able to understand her emotional needs before [rather than emotional about telling others].”
	High rating: “It was like being knocked over by a big wave. I felt so clueless, like how could I have raised this child to this age, and not known. And being so afraid of what it meant for his future.”
(3) Sharing information about 22q11DS with the affected child	“Right from the beginning we told him something… When he was little, we just referred to it as his funky chromosome. And ‘funky’ in our family is just sort of a fun word, no negative connotation, just kind of quirky, maybe even cool.”
	“I just explained it as how God makes us all different, and whereas God gave some people two kidneys, he gave you one kidney. And that doesn’t mean you’re bad, it just means you’re different. It means that… some people can do some things, and you can do other things.”
	“We need[ed] to go see this doctor and that doctor. [Child] had to go do all these things. And we saw no reason to hide from him what was going on, so we started talking to him about it at that point… whenever we had something we thought we could share, in terms of his understanding.”
	“We are just a very open family. We talk openly about anything that’s bothering any of us, whether it’s me, my husband, or our two children. And we just wanted her to know that she could always talk to us.”
	“I think the biggest thing is ‘We want to help you. And when you let us help you, we usually are able to improve things.’ And by help, it’s not just doing things for him, but it’s creating environments that he can be successful and have opportunities in. Like in the classroom, getting him an environment that’s going to work. Once we get him there, it’s up to him… So we hold him accountable, but we want him to know we are there to help him navigate.”
	“She has to know how to make some healthy decisions, how to take care of herself. I say sometimes ‘You know you are getting older, and maybe want to go to college, and you need to learn how to take care of yourself.’ We just try to remind her what is part of… a healthy lifestyle. That’s why we start talking sometimes, related to being healthy. You just need to be addressing all the issues.”
(4) Parental concerns and barriers regarding disclosure of a 22q11DS diagnosis to the child	“You know, we really have not sat down and had a discussion about… ‘This is what you have.’ We just don’t know exactly what to do about that, and so consequently we haven’t done anything about it.”
	“My biggest problem is just knowing what words to use because her understanding is limited. I can’t say there is something wrong with your genes because she won’t know what a gene is. And I just don’t know the words to use so it won’t be scary to her, so that she won’t feel weird or different, and that she will kind of understand. So I guess that’s where I struggle the most, is because you have to do it on her level, and it’s hard to know the right things to say.”
	“I don’t want [child] to use it as an excuse for things… She’ll say ‘Well I can’t do that because I have VCFS.’ That’s kind of how she is, she could use that to get her own way, and I don’t want her to use it like an excuse. So I just don’t know how to handle that yet, and we’re working on it.”
	“I guess my primary concern has been his self-image, that it remains just as it would for any other child. I don’t want this to define him. But I do want him to have the information he needs to know to make good decisions for himself. And that’s a difficult balance to strike.”
(5) Receiving advice about how to talk with children about 22q11DS	“I don’t feel very well-equipped at all. I sort of feel like I could use help with it… I just don’t know what words to use so that she’ll be able to understand.”
	“Just knowing how and when to talk about it, and like should someone else be there, like should a doctor be there too? And how to approach it. I suppose with every child, it’s so different, the understanding and everything. So I suppose it depends on the child. But that’s what I really don’t know. I just don’t know how to approach it.”
	“The pediatrician was very helpful with that [how to talk to the child]. He gave me the analogy of a pie chart. You know, it’s not a big circle that says 22q. It’s slices, you know… he’s this, he’s that. And 22q is a slice in that chart. And that was really useful. That was a very good visual… for me, and I remember sharing it with [child] too, because I thought that was something he could understand as well.”
(6) Participant strategies for becoming knowledgeable and preparing for communication about 22q11DS	“I continue to do a lot of reading and looking at different things, trying to learn… because it changes as he gets older… in how things are affecting him. I’m not an expert overall. I just try to be as much of an expert as I can on the specific areas I need to know about.”
	“I’ve really just had to read and put it in child form for her… I wish there was a book for 22q that an 8 or 9 year old could understand. But I haven’t found that book. So I just always read, and anything that needs to be shared with her, I try to put it in children’s terminology.”
(7) Opinions about when to disclose a diagnosis of 22q11DS to the affected child	“When your child is old enough to understand the first little bit about it, then you tell them. That’s my feeling.”
	“I don’t know if I could put a year on it specifically. But more… categorizing… it as an ability to understand… when they’re recognizing the differences and asking questions, at whatever age that is. It could be 4, it could be 7… I mean the kids vary so much, you know.”