Background
Method
Design, sampling, recruitment, and participants
Data collection
Analysis
Results
Participants
alpha-1 antitrypsin deficiency |
galactosemia |
leukodystrophies |
Pompe disease |
Fabry disease |
glucose transporter type 1 (Glut1) deficiency syndrome |
mitochondrial disorders |
porphyrias |
fatty oxidation disorders |
glycoprotein storage diseases |
mucopolysaccharidosis (MPS) (2) |
rare diseases (answers specific to IEM were sought) |
gaucher disease |
inborn errors of metabolism (general) |
phenylketonuria (PKU) (2) |
Wilson disease |
Child and family experiences with IEM: perspectives of patient groups
Coping with uncertainty and the unknown
Sub-theme 1: Dealing with the unknown (in general)
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[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.”
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[1b] Participant (12): “One of the things that people find so difficult to deal with is the uncertainty and the unknowing, sort of thing…”
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Sub-theme 2: Uncertainty concerning diagnosis
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[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.”
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[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.”
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[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.”
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Sub-theme 3: Unknowns about the child’s prognosis and future
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[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…”
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[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.”
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Sub-theme 4: Uncertainty among health care providers
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[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.”
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[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.”
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[4c] Participant (02): “I get it; there are 7000 rare diseases, and nobody can be an expert on all of them.”
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Sub-theme 5: Strategies for coping with the unknown
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[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…”
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[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.”
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[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?”
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Child’s life transitions
Sub-theme 1: Early childcare and social development
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[1a] Participant (08): “… when you’re also dealing with like daycare providers—and they’ve got a lot of kids they’re dealing with—and how do you make sure that your child is getting what he or she needs at the daycare?”
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[1b] Participant (15): “I know it’s something my family personally has faced; the quandary of needing to work but not being able to because of the severe needs, you know, the high needs and the maintenance needed at home with the condition.”
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[1c] Participant (07): “And this mum… came in crying… I said ‘You know what, like, if this is causing you too much stress…that’s not my intention’… she just kind of burst out crying and hugged me and she said ‘Oh my god, no. I’m so happy,’ she said, ‘my daughter is 4-and-a-half [years old] and this is the first time she’s ever been with children’.”
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Sub-theme 2: Transition to school
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[2a] Participant (07): “You know you’ve just got the daycare all on board [with managing the disease], and you’re done daycare, and now you’re going into the school system. It’s just over, and over, and over, and over again.”
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[2b] Participant (15): “…often [the symptoms] our children experience are difficult for others to detect. So that’s always a concern for parents, you know, in the school setting or any kind of setting outside… especially when someone else is filling that caregiver role you know either at school or the parents are at work and things like that.”
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[2c] Participant (06): “… he’ll [the participant’s affected son] come home and he’ll say ‘Mummy, I just walked away from them [other children] because, you know what? They’re not nice and I don’t need them as friends’, you know… because his speech isn’t where it should be it makes him very hard to understand and that causes a lot of social, you know… no, not social issues; but he couldn’t express himself in the beginning…”
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Sub-theme 3: Transition through adolescence
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[3a] Participant (12): “One of [the participant’s son’s] big challenges—and I think it is for a lot of the kids—is socializing… [he] had a really close friend, but unfortunately he moved away. And kids are really good with him, but no one who’ll come over and play. I don’t blame them. I know back when they were 9 or 10 they wanted to play baseball; [he’s] not playing baseball. And they’re at the age where they talk really quick and they do things really quick and [he’s] in a wheelchair now and, you know. So, like I said they’re always incredibly friendly but there’s nobody who would come over and watch a movie with him.”
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[3b] Participant (09): “I think the only adherence issues we see, as a rule, tends to be at the moment of transition, and the young people being fed up with being told what to do and saying that they’re going to make their own decisions and not adhere to the diet or to the medication because it’s their choice.”
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[3c] Participant (13): “… you know a lot of the children… are now, as it were, the oldest children who’ve ever lived with these conditions… So, there’s no experience of how you provide services and support for people in this position; essentially you’re making it up as you go along…”
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Struggle for improved outcomes and interventions
Sub-theme 1: IEM disease communities: challenges and successes
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[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].”
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[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]”
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Sub-theme 2: Role of the internet and social media
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[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.’”
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[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].”
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[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.”
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[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.”
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Sub-theme 3: Importance of communication with clinicians
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[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].’”
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[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.”
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[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.”
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Sub-theme 4: Suggestions for improved health care
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[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.”
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[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…”
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Sub-theme 5: Struggles and progress in treating the disease
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[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…”
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[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.”
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[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?”
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[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.”
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[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?”
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