Background
Methods
Setting
Recruitment: sample, eligibility criteria, & focus group selection
Data collection: focus groups
Analysis
Results
Focus group demographics
Demographics | Total (N = 30) | Adult undiagnosed (n = 6) | Adult diagnosed (n = 7) | Pediatric undiagnosed (n = 8) | Pediatric diagnosed (n = 9) |
---|---|---|---|---|---|
Current gender identity, %, (n) | |||||
Female | 66.7% (20) | 83.3% (5) | 57.1% (4) | 62.5% (5) | 66.7% (6) |
Male | 33.3% (10) | 16.7% (1) | 42.9% (3) | 37.5% (3) | 33.3% (3) |
Race, %, (n) | |||||
White | 56.7% (17) | 50.0% (3) | 71.4% (5) | 62.5% (5) | 44.4% (4) |
Asian | 16.7% (5) | 33.3% (2) | 0% (0) | 12.5% (1) | 22.2% (2) |
Black or African American | 13.3% (4) | 0% (0) | 14.3% (1) | 12.5% (1) | 22.2% (2) |
Black or African American and other (not specified) | 3.3% (1) | 0% (0) | 0% (0) | 0% (0) | 11.1% (1) |
American Indian or Alaska Native | 3.3% (1) | 0% (0) | 14.3% (1) | 0% (0) | 0% (0) |
Race not provided | 6.7% (2) | 16.7% (1) | 0% (0) | 12.5% (1) | 0% (0) |
Ethnicity, %, (n) | |||||
Not Hispanic/Latinx | 80.0% (24) | 83.3% (5) | 85.7% (6) | 75.0% (6) | 77.8% (7) |
Hispanic/Latinx | 10.0% (3) | 0.0% (0) | 14.3% (1) | 12.5% (1) | 11.1% (1) |
Unsure/unknown | 10.0% (3) | 16.7% (1) | 0.0% (0) | 12.5% (1) | 11.1% (1) |
Household income, %, (n) | |||||
< $20,000 | 33.3% (10) | 66.7% (4) | 14.3% (1) | 12.5% (1) | 44.4% (4) |
$20,000–$39,000 | 3.3% (1) | 0.0% (0) | 0.0% (0) | 12.5% (1) | 0.0% (0) |
$40,000–$59,000 | 6.7% (2) | 0.0% (0) | 14.3% (1) | 12.5% (1) | 0.0% (0) |
$60,000–$79,000 | 3.3% (1) | 0.0% (0) | 14.3% (1) | 0.0% (0) | 0.0% (0) |
> $80,000 | 20.0% (6) | 33.3% (2) | 0.0% (0) | 37.5% (3) | 11.1% (1) |
Prefer not to answer | 33.3% (10) | 0.0% (0) | 57.1% (4) | 25.0% (2) | 44.4% (4) |
Themes within focus groups
I imagine other people feel this way too so that when you go to the doctor, and you say “oh, by the way, I have these genetic mutations,” they don't look at you like you're crazy and making up your symptoms. They say, “oh wow,” and then when you say, “I'm in the rare Undiagnosed Diseases study,” they don't just say, “oh, you're making this stuff up. You're crazy.” They say, “oh, wow, that's really cool. I better pay attention.” So as an advocacy tool, that's been the best part of it for me. (ID 12)
I mean we're really like our own doctors, we know our symptoms. They can't tell us no you're not feeling this way. Yes, I'm feeling this way. (ID 3)
I am so grateful that so many syndromes were ruled out by the UDN visit. And that other symptoms that he was having were not what we thought so I'm glad that even though we don't have an answer, I'm glad that some of the other suspected syndromes were not the case for my [child]. (ID 25)
I did have to get into a mind space of we may never know, and not knowing may be what we live with for the rest of his life, um we might not know. (ID 29)
And it’s often hard when something is wrong internally but externally he looks perfectly fine. So it's definitely changed the way that everyone around him interacts with him, because we now understand that even externally he looks fine but internally he’s not. And that's been, I guess for him, it's definitely been an improvement in the way he's treated, how he's interacted, it's given us a new level of, like I said, empathy and sympathy. (ID 20)
Themes across focus groups
I think what I got most out of it was that someone was willing to listen to all the many varied health issues that I have. Every time I went to a doctor or a hospital, they were experts in their own field and didn't want to hear about anything else. It's like, “just talk to me about your cardio issues. I don't really care about anything else.” And at UDN was the first time that someone said, I want to hear all of it. And that to me was so enlightening. I got to go to UDN a few years ago. So I'm in my mid-to-late 50s, so it was just so refreshing for my entire life never having had that. (ID 6)
But I would just like for somebody from the UDN to tell me “hey, we're still looking at this, you know we haven't given up. We haven't abandoned you. This is still being looked at.” You know, even just every so often, you know, even yearly just to tell us, and remind us that hey we're still looking into this. (ID 29)
I wasn’t so hopeful at the beginning because I had been through the process with other physicians multiple times and still no answers. So when they came back and they told us that, after you know whole exome and whole genome sequencing and just a bunch of bloodwork and testing and stuff, finding a diagnosis. I literally just broke down in tears just because we finally had an answer from the time he was born we had been wanting an answer and desiring an answer. And we finally had an answer. (ID 17)
So I think that it's given me a lot of energy and perseverance and I've had so many setbacks, but I'm not going to give up yet. (ID 13, adult undiagnosed)
I’d say that things are easier now than they were the first time that we met with the UDN. I think that part of that is that the UDN has been one of the tools in our toolbox for our kid and her medical stuff. (ID 30, pediatric undiagnosed)
I know that we have a lot of questions for her future but as a family, we decided to live more in the present for, for her. (ID 14, pediatric diagnosed)