Sub-theme 1: IEM disease communities: challenges and successes

[1a] Participant (01): “So the challenge for these people, first of all you know, to get a diagnosis. Second of all, to get a physician who is informed about it… the kind of questions we often get… are, ‘I have this disorder’ or ‘I believe I have this disorder. I can’t get a physician to go through the process of diagnosing it. Please help me find a physician.’ They almost always end with that, ‘please find a physician’. And you know we’ve been working for over 2 years to try to get a tiny network of physicians across [the country] who could provide some level of support. And so at this point we have, I think, four who are aware. I think four or five physicians that would see patients with [the disease].”

[1b] Participant (18): “So yeah, I just think that right now the [disease name] atmosphere is very, very positive and there’s a lot of support from all the pharmaceutical companies that have treatments out there. You know, we do our best to provide what we can as well, and doctors are very giving of their time to patients so they don’t feel like they’re just pushed through the system, yeah… So, I would, I’d probably say, it’s probably more positive than negative out there! [laugh]”

Sub-theme 2: Role of the internet and social media

[2a] Participant (02): “… many of the adults that we know of diagnose themselves from information on the internet, and went to the doctor and said, ‘I think this is what I have.’”

[2b] Participant (16): “Yeah, and things now with social media are so different than they were… families that talk about ‘Well, when we got the diagnosis, you know, we had to go to the library. You know, we didn’t have Internet at home; we didn’t have a computer. You know, you couldn’t Google it. You had to get this big medical textbook out.’ But now families are going to Facebook and they’re finding families on Facebook before they’re finding the [rare disease patient group].”

[2c] Participant (13): “If you’ve got a condition which is a rare… you may be the only patient for miles around who has that experience. But with, you know, Facebook and things like that, you can be part of a group which can have members all ‘round the world… it can help to reduce the sense of isolation that comes for families who are dealing with conditions which are poorly recognized and little understood.”

[2d] Participant (09): “… what we do find is sometimes that the newspapers don’t do us any favours. And even the Facebook groups—one person will claim that… their child’s had a treatment and it’s wonderful and they’re cured and they’re so much better and they’re going to school and they haven’t been to school for months. But we know, sort of, from the outside, that that will only be a short-term thing and that at some point they will be ill again.”

Sub-theme 3: Importance of communication with clinicians

[3a] Participant (12): “… of course, with the electronic age there’s a chance for parents to learn way more. You can read the journals, you can hit all the updates and abstracts, etcetera, and you may not necessarily understand it but you can write it down and then regurg[itate]. Yeah, so I think parents can be fantastic resources, and I think doctors… are very receptive to hearing from patients and you know at least listening to it and going, ‘Okay, that makes sense’, or ‘No, that’s not [correct].’”

[3b] Participant (16): “I think just being able to admit when they don’t know enough about this disorder, you know, because not all physicians are willing to accept that usually the mum and dad know more about this particular [disease]… it’s very common that as a parent you are going to know more. You know, and to just be able to willingly learn, you know, from the parent and listen to them, because these kids with [the disease] don’t always present the same way.”

[3c] Participant (03): “… electronic records aren’t really being used as much as they should, or not at all in some places, and so you could even be at that hospital a lot and they won’t even be able to pull up all the information. So yeah, that’s an issue… people go in and they have to explain the whole situation to people who really don’t understand what they’re talking about.”

Sub-theme 4: Suggestions for improved health care

[4a] Participant (03): “And I mean, I think everybody who has a child with a complex medical condition like this would benefit from having more coordination. You know, being able to go into a clinic and see several specialists in one day, for example those kinds of things. And that really doesn’t happen right now. So, you know it’s a lot, and the burden of getting to all these appointments is huge.”

[4b] Participant (06): “… like in a matter of three days that [hospital] room had become my home, you know? And that was where I’d stay, and I never left my son’s bedside. And then when they’d tell me we were moving, like, my heart would just sink and I’d almost be in tears over it because I couldn’t handle any more change… and that was very, very difficult as a family… I know other parents have said the same thing too…”

Sub-theme 5: Struggles and progress in treating the disease

[5a] Participant (01): “Yes, well you know, there are no treatments. There are some things that this particular family… already found, you know, doesn’t help in their family. So there’s no treatment…”

[5b] Participant (04): “For many families, access to treatments are a struggle. Every [jurisdiction] is different but many patients do not have access to the formulas… foods or medication that they need to best manage [the disease] and minimize the neurocognitive damage.”

[5c] Participant (13): “Then there’s the demands of the treatment regime—where there is a treatment regime available. You know, a lot of inborn errors of metabolism don’t yet have a therapy, but hopefully will do as the process continues. And then there’s the uncertainties about access which can produce stress and anxiety, not just in the affected individual but also in the rest of the family. So, you know you can imagine the situation: if you know there’s a therapy coming through the licensing process, I mean, are you going to be able to access it? And are you going to be able to access it in a timely manner before your disease has progressed to the point at which, you know, you are severely constrained in what you can do?”

[5d] Participant (03): “… you know, some people travel to the hospital 3–4 h each direction. I mean that happens, right? So, some people, that’s taking 12–13 h; 14 h a week. So yeah, I mean, I would consider that onerous. But the great thing is most people don’t really see it that way. They’re grateful to have the option.”

[5e] Participant (16): “… it’s fascinating looking at those three [children], you know—one who got the drug at two [years old], one who got the drug at one [year old], one who got the drug at, like six weeks… A huge major difference… of course, it’s so hard to demonstrate effectiveness because of the small numbers of patients, and… how come the treatment’s working on one kid and not in another? It’s just so hard, right?”