Table 3.

Representative excerpts from transcripts

Theme: Individual characteristics (Theme present in 24/24 interviews)
Clinician behaviors and characteristics Present in 24/24 interviews	“Having a pediatrician that is fully supportive of us getting the proper care, having a huge advocate from the neurologist locally from the get-go that took the time to do the research and learn about the syndrome to her full extent as possible” [CAR 44, father] “I always feel like I’m the one educating, including her pediatrician. She’s never seen anything like it before.” [CAR 20] “I hate to say it, but there’s a level of arrogance with some doctors. They don’t want to manage things from another doctor that says this. It’s hard.” [CAR 39] “I have found a huge reluctance in referring us to someone else. I feel like they want to keep us in-house and don’t want to refer us to someone else.” [CAR 33]
Parent behaviors and characteristics Present in 18/24 interviews	“I was like, “Something serious is going on within her leg, and this is what I need you to do. If you can’t do that, I need you to tell me now so I could go to a different hospital. Something is going on, and we need to get to the bottom of it.” [CAR 20] “The way that we handled this was really about my husband reading everything he could. He would do literature searches and tell me people to contact, and then I would reach out to them.” [CAR 48] “Although I may come across as a pain in the butt, I really am just trying to do my best to advocate for [child] and make sure that she has the care she needs.” [CAR 39]
Theme: Health care system (Theme present in 24/24 interviews)
Availability of specialist multidisciplinary teams Present in 20/24 interviews	“The fact that no one, locally, knows much about it is a barrier. That we have to go across the country in order to get the care that we want with doctors who we feel like really, really know what this is.” [CAR 19] “Then if you’re trying to get a first-time appointment, it’s months out. Once you’re already an existing patient, if you need to be seen within a couple weeks, you’ll get that appointment. You see what I mean? It’s like first-time patient, they’re just overwhelmed with patients.” [CAR 20] “We have had lots and lots of problems with finding doctors in our area that are basically even really willing to work with her, because they don't understand the complexity of what she has wrong with her leg. Sometimes we've had cases where her medical care has required a local doctor to contact her specialist and some of them just don't really want to take the time to do that, I don't think, just because some of the things that she's had to deal with are really outside their [laughter] box and capabilities.” [CAR 24]
Care coordination and logistics Present in 17/24 interviews	“It’s been difficult. The administrative part has been I think the most difficult part to try to get things done and make sure that everything was pre-approved before we got there. Then sometimes, we’d get there, and when we weren’t pre-approved, it was just sometimes it’s been messy. I guess that’s pretty stressful when we’re already doing it trying to go through these appointments with her.” [CAR 9] “Just not knowing how to navigate these systems, or who to call, or how you talk to a doctor, or how to pass information on. Just trying to understand how it was, just how the whole system worked, and then trying to manage others’ expectations was overwhelming.” [CAR 28] “It's just coordinating everything. It's hard and exhausting to try to explain to another doctor what another doctor said.” [CAR 31]
Insurance and financial issues Present in 13/24 interviews	“Every time we went to [city] everything was rejected. We paid for everything out of pocket for the first three years going to [city].” [CAR 38] “The compression garments, the massages. They say that’s all pay out of pocket,’cause insurance don’t cover that.” [CAR 11] “It’s just a huge worry. Because if you don’t have a good insurance, you’re not getting into these teams. You’re not. Then what? She’s seeing doctors that don’t know anything about it.” [CAR 20]
Treatments and services Present in 13/24 interviews	“It takes us about four hours to four and a half hours [drive] for a 30 min MRI. Then we travel back, or we’ll stay around the [city 2] area for a little bit. We do that because if we have the images taken in our state in [state 1], [state 2] can’t read them. The position of the slides that they take there, their interventional radiologists can read them. The ones from here, they cannot. It’s completely useless to even try to stay near.” [CAR 20] “The [imaging] equipment there is so much vastly different than what we have here. It’s all cutting edge, state of the art stuff… I know the equipment there is just much better, so I don’t mind [traveling there].” [CAR 38]
Theme: Clinical characteristics (Theme present in 23/24 interviews)
Accuracy and timing of diagnosis Present in 18/24 interviews	“[Knowing the diagnosis] helped me in that I was able to concentrate our efforts into okay, so there’s a group of children who have this or people who have this. These are the things I need to look for health wise. These are the specialists I need to find. It gave me a lotta direction in that okay, so these are the things that could possibly happen. These are the preventative things that we need to be doing in regards to scanning and things of that nature. I was able to get the guidelines as to how to—not that how it’s treated because there’s no real treatment per se.” [CAR 1] “When we finally got the right diagnosis, it was a relief. It was bad news, but that was the best news to hear because we had an answer… It was relief, and then we have to now move forward with something known. It's so much better to know than to doubt everything that we were being told.” [CAR 31] “Then we went to a dermatologist, 'cause that's where you go for [other disease]. He said, "I don't know what this is. I can't help you, but I promise you it's not [that]." He sent us on our way.” [CAR 19]
Characteristics of clinical presentation Present in 18/24 interviews	“In our 20-week ultrasound the doctor found a mass. He didn't really know what it was at that point, and it was a little bit scary.” [CAR 43] “At birth, we could see that she had facial birthmarks. We thought it was bruising on her face from delivery, which didn’t go away” [CAR 10] “It just started to grow very rapidly. Then it became debilitating very rapidly once we found it. It was like wildfire.” [CAR 20]
Theme: Social support networks (Theme present in 18/24 interviews)
Social support networks Present in 18/24 interviews	“Probably the biggest thing was having a community with people who you can talk to and hey, this is what I dealt with and what did you all experience? Or did you all go through the same thing?” [CAR 37] “I think it’s the first-person support and comradery in knowing you’re not alone… If they’ve not had the exact similar situation, they’ve probably had a very similar situation that could help guide you on what works for them or at least think the right questions to ask.” [CAR 34] “There are definitely things about the groups that have made me uncomfortable. There’s some, ‘You have to go see this one certain doctor because he’ll do things that are very outside of the norm, and he’ll be willing to do things that other doctors aren’t willing to do.’ I always take a step back from those sorts of situations.” [CAR 10]
Theme: Scientific progress (Theme present in 12/24 interviews)
Scientific progress Present in 18/24 interviews	“I just don't ever feel like we're gonna make real progress here because there's just not enough money behind it, and there's not enough motivation to fix this… There's something here that does feel very hopeless at times. When you have a condition that's not fatal, the motivation [for research] doesn't feel there.” [CAR 36]” “There's this responsibility when you are—when you have an ultra-rare disease to be the guinea pig, and there's a benefit to us for being the guinea pig. You want to be the guinea, but sometimes you don't wanna be the guinea pig.” [CAR 36] “We found out that there’s a trial drug that was making a dramatic impact on [disease] patients… It took us about a year, maybe a year and a half, to get him on this trial drug, and he’s been on it for a year now. The drug has made a huge impact and positive impact on his life.” [CAR 44]
Theme: Luck and privilege (Theme present in 8/24 interviews)
Luck and Privilege Present in 8/24 interviews	“I got in to see them because I had one of my physician friends call and share how debilitating my daughter was. Once we did that, we got in fairly quickly… [Without that,] it would have been terrible. It just would have been terrible.” [CAR 20] “I recognize that we are really, really fortunate that we have the ability to go across the country and do this… We have the ability to do that, but not everybody does.” [CAR 19] “I don’t know how parents do it who don’t have the education or the background to actually do the things that I have to do. If he was born to someone who wasn’t, I don’t know what they would have done living here in town where I’m living with the providers that we have. He probably wouldn’t have a diagnosis.” [CAR 1]
Cross-cutting theme: information (Theme present in 16/24 interviews)
Information Present in 16/24 interviews	“I think it was pretty frustrating, hurtful, a lot of confusion. It was a whole, I guess, a time period of me just feeling like you can't get answers from doctors, you can't find anything online. It just like constantly looking for something that you can't get an answer to. It was quite a bit in the beginning I'd say. It was rough. It was rough.” [CAR 37] “Things getting paywalled some of the—and that was so just—it was so frustrating’cause you couldn’t share the information. I couldn’t share that with anyone, and having to pay for the studies is just really frustrating.” [CAR1] “It was really difficult. There's not a lot out there. Which is understandable because it's so rare. It wasn't very good time for me to be researching everything and then reading what's life expectancy and stuff like that, the negative parts about it.” [CAR 42] “I just look at everything that I can find, but again, even then I'm afraid to, I would really rather have that information from a doctor because there’s always that level of misinterpretation on my part. Not truly understanding the implications of some of the test results from the diagnosis and all that. I mean, I would rather get that information from a doctor, but nobody really has seemed to have that at all.” [CAR 33]