Sub-theme 1: Dealing with the unknown (in general)

[1a] Participant (06): “I think for me [the most important impact on daily life is] the unknown. Because like… you don’t know what the future’s going to hold. That’s hard.”

[1b] Participant (12): “One of the things that people find so difficult to deal with is the uncertainty and the unknowing, sort of thing…”

Sub-theme 2: Uncertainty concerning diagnosis

[2a] Participant (03): “So, you know there’s the challenges once you get diagnosed, but there’s all those challenges before you were diagnosed, and you know, often people go through a couple of years and several specialists until they get the diagnosis.”

[2b] Participant (17): “… it’s my feeling that [the disease] is a very under-diagnosed rare disease just because of the misdiagnosis for 5 years for my son… .. And there’s so many stories that are even worse than that.”

[2c] Participant (05): “… quite often infants were actually diagnosed after they had passed away… I can’t imagine being a parent who goes through that.”

Sub-theme 3: Unknowns about the child’s prognosis and future

[3a] Participant (06): “I think just overall just the not knowing what to expect and you’re hoping, you know, like I’m hoping my son gets through high school. And I’m hoping he gets a diploma, and if we can get him there I’ll be thrilled, you know. I’m not looking at college, I’m not looking at university or anything for him, but I’m hoping that maybe he can be responsible enough that he can do something. Maybe in the trades, maybe with his hands, and maybe we can set him up in his own business. So, but that’s kind of a hard reality…”

[3b] Participant (16): “A lot of people want to know like, ‘When is, you know, when is my child gonna die?’… Some doctors will say, ‘Well you know, a kid with [the disease] is gonna die, you know, between the ages of five and 10.’ So then like, every year you know, the birthday is not something that is a happy celebration for these families… [they] want to know ‘When is this gonna happen?’ And just the unknowns about that.”

Sub-theme 4: Uncertainty among health care providers

[4a] Participant (10): “Well the primary care system has no idea… And then even in the smaller clinics throughout the country, you know, they may only have one patient with [the disease]. And so even though they’re the specialists, they don’t know everything.”

[4b] Participant (01): “I think there’s a lot to be learned yet… there’s very little research between symptoms—in general, between symptoms and between [biochemical] levels.”

[4c] Participant (02): “I get it; there are 7000 rare diseases, and nobody can be an expert on all of them.”

Sub-theme 5: Strategies for coping with the unknown

[5a] Participant (16): “In most cases the families… very quickly become the expert… I think just trying to understand the disease, becoming the expert and being able to advocate and share and raise awareness about their disease locally is probably the hardest thing…”

[5b] Participant (01): “I mean at the best, the best we can do at our end is to try to match families together so that they can share information and you know talk to somebody who has the disorder and you know understand what they do and how they cope.”

[5c] Participant (17): “I go in to my family doctor and whenever he’s got a student in with him we sit down for 15 min and I educate him on [the disease]… But this is part of raising awareness, ‘I’ll teach you about a rare disease so that maybe 1 day in your life, if you come across these symptoms you’ll remember’, right?”