Table 2.

Themes and example quotes

Theme	Example quotes
Theme 1: AGS impacts the entire child. Motor, cognitive, and social limitations hinder both physical and mental function and transform a child’s life. (N=189)
Global neurologic impact	“[AGS] has affected his whole development “ “He’s still not really met any milestones up until now other than smiling and cooing and laughing ”
Cognitive and communication abilities	“Not being able to communicate back what he knows, is trapped in his mind” “I think she tries to speak. I mean, when I ask a question, she will go - and it doesn’t come out.” “I think that there is a whole world in here and - of all these emotions and all these frustrations and all these joys and all of these things that she wants to share, and she can’t”
Motor abilities	“You can tell he tries and wants to do something, but his body just doesn’t follow”
Social interactions	“I feel like she - a lot of times she sees her restrictions almost more than I do. And so, she won’t be eager to participate unless she knows that she will be welcomed in an activity... in other situations with other adults then she might not naturally try to include herself in an activity because she’s nervous of how she’ll be able to do it, how she’ll be able to accomplish it”.
General wellbeing and independence	“There’re experiences that he hasn’t had that he should have had by now, and it’s just completely just transformed his day- to-day life” “He can’t run around or have fun” “It’s impacted every part of her life - from development to learning to everyday activities.”
Theme 2: Families greatest hopes and priorities for their children include improvement of functional abilities and a focus on happiness and independence to improve quality of life. (N=98)
Hope for improved communication	“If he could speak, and I could know what he was thinking so that he could communicate with me and be included in the world” “I wish I knew what he was thinking. When he was younger, when he was in therapies, they used to ask me, so what is it that you think you would love for him to do? And I used to say walk. I wish he could walk. But now as I’ve gotten older and he’s gotten older, I really wish he could speak. Walking to me is not important anymore but knowing what he’s thinking is more important”
Hope for improved motor skills	“If he could walk, I’m telling you that would mean I could get him a job. I could - it would be different for us if he was mobile.” “One big thing, miracle this, for him just to move his arm is so huge for me already, for him to just prop himself a little would be huge ”
Hope for happiness and comfort	“I want him comfortable - no pain, less discomfort” “I think mainly just him being settled and happy is the first thing to improving his quality of life.
Hope for independence	“I think that that would be a huge thing for her to have her independence” “To be able to feed herself and prepare her own food” “Being able to drive a wheelchair...”
Theme 3: The abrupt and often severe onset of AGS symptoms caused significant stress and uncertainty _for_families. (N=298)
Mental status and systemic symptoms	“The first two years of his life were complete [obscenity], complete misery” “It was just constant crying, like all day crying, not just certain periods. It was all day and night crying” “She had 35 fevers in 14 months” “She stopped eating” “Sleepy all the time” “She stopped sleeping” “Major, major skin rashes. Constantly in the emergency room, draining puss from his fingers.”
Developmental delay and regression	“Apparent right away that he was severely affected, disabled” “He stopped pulling himself up, he wouldn’t stand up on his own anymore...And then, he started having a little bit of difficulty crawling...It wasn’t until he actually had problems sitting himself upright on his own...that we started getting concerned.” “Within three weeks she couldn’t sit, stand, walk or crawl, and within a month and a half she couldn’t use her hands”
Theme 4: AGS impacts the entire family emotionally, socially, and financially. (N=165)
Emotional impact	“It is physically demanding and emotionally and mentally” “[It has been] a roller coaster of emotions” “survival is the best word to use. We are trying to survive ” “It’s emotionally exhausting for a mother and father to have to sit and retell that story over and over and over again... People don’t listen well to parents of kids with special needs and It’s very frustrating” “There are times really that I’m so tired and still so sleepy. So, sometimes maybe I feel guilty of not really doing my part” “I don’t even have the luxury of sleep anymore. I know it’s affected me [...]. It’s so tiring, I wasn’t prepared for this”
Career and financial impact	“I’ve switched my job positions from days to nights to try to accommodate for him”. “I had to stop working. I have to stop working to take care of her”. “I need to do my job, and I know I need to do it well so I can continue to provide for my family and then we can have the medical coverage we have ” “It’s almost not worth me going to work when we have to pay [for childcare]”
Marriage impact	“I would give anything for my child not to have AGS, but it has brought my family closer” “We’re a somewhat dysfunctional family because that’s now part of it. It causes emotional problems within us ”
Theme 5: Families cope with the impact of AGS by reaching a place of acceptance and relying on both medical and faith-based support systems. (N=139)
Acceptance	“It took a few months after his diagnosis...to just, I guess, psychologically accept that my life was going to be very different, and you have to be content with that”
Faith	“My faith is very strong, and people always say, God doesn’t give you more than you can handle”
Medical system	“It’s very comforting to be here with a team ofpeople that understand this disease”