Table 4 Sample quotations for disease-related impacts

Emotional

“Sometimes I think I have depression, but is that related to Barth syndrome? I don’t know. It can also be related to other issues.… it’s too big to say [it] destroyed your youth, but, yeah, it’s hard, it’s painful.”

Work/school

“… really feeling tired and not having the strength to follow others.… I didn’t have to participate in sports in school either because of that.… Barth syndrome was the cause that I started working part-time. Because I noticed I couldn’t keep up with things.... Otherwise I would have worked five days a week like anyone else … that changed a bit over the years because the limitations got a bit more over time.”

Physical

“We noticed that something was wrong because when we were going on holidays, we never went to areas … with mountains or hills because... When I have to walk up that, that’s really a problem. And that was already when I was very young … so I walk shorter than I used to. I cycle shorter than I used to. Walking stairs is more difficult. And then the last years, problems with the heart … other people do a lot of things for me, if they cause a strain. I knew that physical tasks, exercise, and all of that stuff, I knew it was a lot harder for me than it was for the other kids. Didn’t know why …”

Social

“I was teased a lot by the other children, bullied, and all that.… They couldn’t even say, well he’s like this because he has this condition, you know? There, there wasn’t no excuse for it. I was just different …”

Role function

“I play with the kids … but it takes a lot more. They need a lot more attention and a lot more care. Because I work in the morning. I do a little bit of household in the mid-day. And then I have no energy left … the kids come from school and they also want to have some attention. That has a major impact here at home …”