Table 3.

Patients’ descriptions of the impact of acute intermittent porphyria

Topic	Exemplar quotes
Sleep	“I don’t really sleep well at night at all from the porphyria because my back hurts and my feet hurt and my legs, they hurt a lot. I don’t know if it’s like restless leg syndrome, but it’s like I keep moving type of thing … I’ll jerk and it wakes me up when I do sleep, so I have a lot of problems with sleeping. And so when I wake up in the morning I’m always fatigued.” (Patient No. 01)
Social	“I think the unpredictability [of] porphyria is frustrating. It’s difficult to make plans far out because of porphyria. I’ve missed friends’ weddings. I’ve had to cancel trips. Even appointments that day—I think one of the biggest ways that porphyria impacts your life is that it’s completely unpredictable. There’s no way I could be a reliable employee to somebody because I could not guarantee that I will be there tomorrow for work.” (Patient No. 06)
Financial	“Well of course not being able to work has impacted our finances quite a bit and then the hospital bills have also been impacting our finances a lot.” (Patient No. 02)
Nutritional	“My diet has changed by 80, 90% because I can’t [eat] anything anymore.” (Patient No. 08) “It hurts to eat … I don’t eat a meal or anything … it’s too painful. So I mostly just kind of eat small things during the day, and I drink a continuum of sugary liquids all day … I just won’t eat that much substance at all, because it’s too painful to eat … It’s the digesting later that hurts.” (Patient No. 16)
Lifestyle	“So, things that I would want to do—travel, go places—if I get sick and I’m somewhere where they don’t know what—I mean, very few doctors understand what porphyria is or even how to treat it … That’s a huge concern. So we don’t travel much. It’s, you know, it limits your life.” (Patient No. 17)
Psychologic	“I have to take all these stupid medications, and there’s so much stigma in society about prescription pain meds and stuff nowadays. So now it’s like this complete shaming process that I’m experiencing, even though I’m in no way addicted to anything. I’d throw it all away if all this would go away, but I have to now feel like I’m some kind of horrible person because I have pain and need pain medication. So I get to be shamed every time I go to the pharmacy to get my medicine.” (Patient No. 16)