Table 3 Sample quotations for BTHS signs/symptoms and disease progression

Fast heart rate

“I have a very fast heart and some periods of feeling that I have very little breath.…Sometimes when I was lying in bed and I thought my heart was going really fast, but you didn’t think something special about it, at least at that point …”

Tiredness

“You have some energy for a period but then it goes very fast…. All days are the same for me. I have energy for a part of the day. And when the mid-day comes I feel the energy is fading away …”

Muscle weakness

“Muscle weakness and pain, like I said, especially with the running and football it was the wind sprints; I usually couldn’t finish the wind sprints with the other guys. I’d go as far as I could, but I couldn’t do as much as they could. And I knew that for whatever reason that I got tired quicker and that it hurt me more, but I didn’t know why.”

Short stature

“Just everything went slower…. In every way you were slower in developing your body, especially when you become [a] teen.… I just had a kid body.… I think when at 24 yes, it was, yeah, still I’m small but you can see now I have a more male body than back then.”

Symptom progression

“Well I think it becomes a bit worse in my muscle strength. It goes very slowly out, but I think I’ve seen all the years by, I think it’s getting worse.”

“I started getting weaker when I was around 50. And it’s gotten a lot worse in the last couple of years. These days, if I do two or three hours of physical labor, it’s going to take me two or three days to recover …”