Table 2 Example quotes for each of the domains and contextual factors

1. Ways of organising care

Preferences

“Hmm… well obviously ideally close to home but I think the majority of our patients, if they feel they’re going to be get a good service and a specialist service, they are willing to travel to a specialist centre.” (Interviewee, healthcare professional)

Benefits/challenges

“…they’ve become specialists in that particular condition, and they know what they’re talking about and they know…you know, the advice that they give you, is the correct advice for that condition. So I think in some ways, going up there is important because you know that you’re receiving the right kind of treatment and advice.” (Focus group participant, Patient)

“[Rare condition 1] was lucky because it got in there at the beginning but you can’t have a separate service for every single one” (Interviewee, healthcare professional)

“I think it’s about good communication, it keeps communication links open if you have a named therapist in each locality. I think it’s about feeling supported. I think it’s about shared learning. So if you’re working closely with therapists in the more hub roles, we’re reliant on them feeding information back to us on how the patients are doing and they’re reliant on us a) making them the referrals, and b) advising them on treatment.” (Interviewee, healthcare professional)

Factors influencing coordination

“so it’s more, you know, a one-stop shop to try and get everything done in one go. But actually that model often only works well if you’ve got a very discreet phenotype, you know, a discreet medical condition that you’re looking at rather than it being something that is going to work for everybody because if you don’t know what’s going on it’s difficult to know who that individual needs to see when they come in for assessment” (Interviewee, healthcare professional)

“You see, for me, I would like to have someone who’s consultant-level but not necessarily specialised, but is at least willing to learn, that I can go to, because travelling is something that’s such a big issue for me […] So for me, it would be nice to be able to go to someone locally who could co-ordinate and just be my go-to person and…or that also my local hospital can bring in when I’m admitted, so that I get some continuity of care, because I go through the same thing every time, to the point now where I actually am scared of hospitals, scared of doctors” (Focus group participant, Patient)

2. Ways of organising professionals involved in a patient’s care

Preferences

“we do support this idea of multidisciplinary team clinics, and then that those MDTs develop good lines of communication with GPs and other providers. That seems to work the best, and we think that there’s some evidence that patients do better when they’re under the care of those sorts of clinics.” (Interviewee, charity representative and healthcare professional)

“And, you know, I feel like if he had a clinic appointment where he could go to and everybody was there, so they had speech and language, they had physio, they had OT, everyone, you know, was there in the clinic, they could see him and then arrange further appointments. I feel that would just be so much more beneficial for us because, you know, having a young family is hard enough, having a child with, you know, a disability is hard enough, but put that altogether with the frustrations that come from a lack of coordination from your healthcare it then adds more stress because you do end up feeling like he’s falling through the net and it does, he gets missed a lot and you end up phoning and that for me is a real frustration. “ (Focus group participant, Parent/carer)

“There should be early introduction to the concept of transition and then plan it with both paediatric and adult services.” (Interviewee – commissioner)

Benefits/challenges

“… because we’re all there on hand in clinic, we can then, you know – the patient can be directed to the appropriate, sort of, allied healthcare professional to address that particular need. So, it works, you know, it works – or if one of us weren’t there or if we’re busy with another patient, you know, at the MDT meeting we can make sure that a follow up call for all appointments happen, depending on what the emerging needs are, really. (Interviewee – healthcare professional)

Factors influencing coordination

“I guess, by the nature of it, it is that complexity that there are so many people involved, and, yeah, who is making that decision, who makes the ultimate decision and who is the right person to coordinate that, I think, and time and money is always a factor, you know, having somebody to find to have that role to coordinate and have the time to do that. You know, it’s fine when you’ve got a few patients, but we just don’t have that built into our timetables to do that extra liaison that you need sometimes.” (Interviewee – healthcare professional)

3. Responsibilities

Preferences

“I agree. I don’t think it’s difficult. I think you can have a…I think you need a named consultant as the overall co-ordinator… […] then maybe the person you have face-to-face with, the person who is a co-ordinator or… Often I do think the senior nurse is really good.” (Focus group participant, patient)

“You know, I appreciate that GPs are incredibly busy and they have a whole host of thousands of patients to consider under their care. However, I do think they have to take some kind of responsibility to some degree to know that every patient under their care could be struggling with all different kinds of things, and I think if it’s a particular one that we could help with that is a noted rare disease, then I think it’s important that we liaise with them and make sure that they’re aware of all the different services that are available locally, and also that they can offer to the patient, because they are the referrer or care, as well.” (Interviewee – healthcare professional)

“I think sometimes in an ideal world they, you know, they’d like you to be sitting at the end of the phone available for you – for them there and then, and sometimes that – you know, sometimes they get lucky and you are at your desk and you can take the call. I think our email system works well in that – I mean, we’re not able to, sort of, answer the queries or address them necessarily straight away, and so we do make it clear that it’s not for urgent urgent things, but it’s a way of things coming in centralised and then the queries can get triaged out to the, you know, the most appropriate member of the team.” (Interviewee – healthcare professional)

“Oh, I think they’re immensely important. Working with three who link to all of our clinics they are fantastic because they do help with coordinating and they are often people who are overlooked in terms of being the – it could be that they could have this role of supporting coordinators. I don’t think it should fall to them completely because unless their job role is to do that they wouldn’t have capacity to do that, but they are certainly part of that triangle of education, health, and social care because sometimes you get a Family Support Worker who will know quite a lot about the educational input but you might not have a nominated person from education to speak on their behalf so the Family Support Worker can do that and then linked to health and social care. So, I think their role is brilliant. “ (Interviewee – healthcare professional, speaking about charity involvement)

Benefits/challenges

“Well, I think where they’ve got them then it makes a huge difference […] where they have perhaps got one of the hospice neuro nurses or they’ve got a community matron, you know, they’re very happy that their care is really well managed, they’re happy that they’ve got somebody that they can speak to who knows them, who’s got that continuity, and who, you know, makes sure that they get to know the other people who can be helpful to them. So, it saves them having all these random contacts from people not necessarily at the most useful time. That person ensures that they get the right input at the right time, and also they’re confident that that information is being liaised between people and professionals, and that’s quite difficult sometimes if you haven’t got a cohesive team and you haven’t got somebody taking that central role. So, I think, you know, when you talk to our folks who has got that, they’re all the, sort of, positives that they mention.” (Interviewee, voluntary sector healthcare professional)

Factors influencing coordination

“I am pretty certain families would say, “We want others to take…we want to be part of it,” and clearly they couldn’t not be, and they now expect to be part of the co-ordination of their child’s care, as do adults of course, now, taking much more… But they don’t want to be…I think there’s a range of abilities to be in the driving seat, so there are some who don’t know what…some are…So many people now are on top of it, you know, they are on top of their own information and will drive the process, and they will go to their…but they still expect their…particularly their surgeons, to drive what’s happening with them, and their nurses in those specialist units. I think there’s a whole hidden…a whole range of hidden patients, if you like, that we don’t know about, and those who are not as articulate and as savvy about their condition, who probably need a lot more handholding, and so I think to make a generalisation of, “What do you think people want from it?” I think it depends on the circumstance of the individual.” (Interviewee – charity representative)

4. How often care appointments and coordination take place

Preferences

“No, I think that regular appointments every six months are fine as long as you’re able to contact somebody in between if there is, you know… If you need to go to A&E, as long as you have that one person that you can contact all the time, they can either send you to a scan, so by the time you go for your six months, you know what the problem is and then you can have something done and move on. Emergency ones are different. I think sometimes you can’t really put a time on anything like that because, say, if you have a seizure, or something like that, or a fall, or anything, you can’t really put a time on it, you need to be seen straightaway.” (Focus group participant, patient)

Benefits/challenges

“which when we were in [Country 2] under the SPZ, that was every three months, which was, for that degree of disability of my daughter, was perfect. So, I think that 12-week, sort of, window is enough to, if something really has changed, if something needs to be caught, it really- that’s just- the perfect for us would be that, for those, kind of… then there’s, obviously, the reactive who knows what happens in the preceding week, but in terms of that oversight, that, sort of, three months for me would be the perfect figure”. (Focus group participant, parent/carer)

“I find sometimes if you have yearly or six-monthly appointments time and time again, they can be a bit fruitless, you don’t really get anything from the appointment, because you’re not in there for a specific purpose or reason, they’re just going, “Okay, you’re fine, see you next year.” It might be unnecessary to have that all the time.” (Focus group participant, patient)

Factors influencing coordination

“I guess it depends on the condition and how much things are changing, and whether it is a life limiting condition, because if it is a life limiting condition there is probably more things that are changing more rapidly. So, I think it has to be condition specific, so I guess you would be guided by what the experts think is appropriate” (Interviewee – charity representative and healthcare professional)

5. Access to records

Preferences/benefits and challenges

“I mean, I personally wouldn’t mind it shared with anyone. I’d rather the more people

[…]

I’m the same. I mean, with my daughter, I was, like, “Yay. If you want to look at this and you want to use this to help her, […] if this can make you more informed, if this can connect you to my daughter, please do ahead and do it,” you know.” (Focus group participants, patient and parent/carer)

“Yeah, I think there should be a button where we, if necessary, can delegate the authority for people to read it, say if you’ve got a problem that’s going on a long time, yes, I delegate it, but at the same time, you can also press that button and take that delegated authority back.” (Focus group participant, patient)

Benefits/challenges

“It would be lovely if when a child came into our hospital, they came with, well I’d say a little book but we are going paperless, aren’t we? But that they would come with some sort of package where you knew their GP, you know their local physio, you knew their speech and language therapist, that it was all related, all in one place. And perhaps if they didn’t have local physio services, depending where they lived, what would be their local team. Because we spend so much time trying to find that out, that if it was all like through a GP surgery, or just at the very local level, just all that information, if the child came with that, that is what to me co-ordinated care is, making sure that you know everyone that is involved and that you have got open access to those people.” (Interviewee, healthcare professional)

“Because I want to know who’s reading my, you know, someone did say at one time, “Oh, the psychiatric team are looking at your notes,” I haven’t given them permission to do that. […] You know, why are they looking at my notes and for what reason?” (Focus group participant, patient)

Factors influencing coordination

“And I think the way going forward will be that we’ll all move more electronic and there will be some form of, I don’t know, NHS Cloud that people can log into or something, but there will be something in the digital technology that we’ll all move to. At the moment it is still paper-based and very much letters.” (Interviewee, healthcare professional)

6. Mode of information sharing, consultation and communication

Preferences

“I think that in a totally ideal world – see, it’s pie in the sky, but in a totally ideal world, if all of the NHS had electronic patient records that were all on the same system and could be shared automatically between units then, you know, we’d be able to see things more nationally.” (Interviewee, charity representative and healthcare professional)

Benefits/challenges

“Having that digital ability to share information, as well, I think would be really invaluable, and making sure that all medical professions are sharing copies of information, letters, to each other so that they all know what’s going on. I think the one thing that I haven’t mentioned yet would be a national portal.“ (Interviewee, charity representative)

“So yeah, I mean, I guess if, I guess potential models going forward, obviously it’s very much disease dependent, but if you’ve got a patient with a complicated rare disease, where there’s a few national specialist centres, I could envisage a bit where you would have a clinic appointment annually at that specialist centre, so you’ve got those face-to-face, and then a remote appointment at some other interval over the year dependent upon the disease combinations, and that may be in combination of possibly, like, a telehealth appointment with one other member of the healthcare team who would be able to action things locally. […] And the patient wouldn’t necessarily need to be physically there.” (Interviewee, healthcare professional)

Factors influencing coordination

“I think it needs to be face-to-face, particularly with, you know, some of these conditions where the person themselves isn’t going to be able to communicate even, you know, by Skype or email or telephone. […] and I think you need to see what’s happening in that person’s environment, see the pressures that everybody’s under, and actually see the person for yourself to work out where things are at. So, I do think there needs to be capacity for face-to-face. It doesn’t need to be all face-to-face, but you need to be able to have a regular touch base in their own space of what’s happening for them, what are their priorities, what are their challenges.” (Interviewee, voluntary sector healthcare professional)