Table 3.

Parents’ Perception of How They Were Told the Diagnosis.

Parents who felt their provider did a good job  “I will say that the doctor who’d been following us since she started having the seizures ... she was young..., but she presented me with the diagnosis and she’d actually been on the CDKL5 website and printed out the parent handbook. She went through that with me from front to back, which took at least an hour. We reviewed all of the symptoms, which was—I mean, it was awful. It was devastating but it also made a lot of sense. . . . [I]t was nice just to have it all laid out. ... It was a rude awakening, but she also went through all the various treatments and therapies.... I was able to also connect with . . . [various] parent support group[s]. ... I feel like I had a really positive experience. I was able to come home and actually have some information when I had to break the news to my husband and other family members.” (participant 7)  “He let us ask questions, and he let us ask as many questions as we wanted. He didn’t end the conversation. We did.” (participant 3)  “He probably ended up staying later than he wanted to at work just to be able to talk to us together on the phone about it.... We ... [h] ad him on speaker. My husband and I were both there. ...I remember him being super tender. He did have just a very calm demeanor when he talked about it. He did say that he was so sorry, and this is not what we wanted to see come back on the genetic testing, that kind of stuff. ... He was fantastic. I just felt like he was our friend telling us.” (participant 3)  “I remember looking at it, and it said epilepsy, encephalopathy. ... I said to her, ‘Does this mean that [she]’s going to present with those things?...’ This is her regular neurologist. She was like, ‘I’d like to think not.’ She was like, ‘But I don’t know. This is my first time that I’ve ever seen this diagnosis, so I’m gonna get her into genetics.’” (participant 27)  “I thought that was very thoughtful cuz she ... gave me the next step. We’re gonna make an appointment. We’re gonna try this. . . . That was very encouraging.” (participant 32)

Parent who felt their providers did a poor job  “[The provider] was, like, ‘I’m sorry. I’m not feeling well today. I have to go. I came in just to see you,’ like I should be grateful for this amazing appointment.... Then, the neurologist who had stepped in and was like, ‘Do you have any questions?’ I was, like, ‘I don’t know [what to ask]. Is she going to walk or talk?’ She’s, like, ‘I just don’t know. You should find a community of parents who can help you.’ Then she also left the room. The appointment with the geneticist and the neurologist had gone so badly, the piece of paper we got with her actual diagnosis on it . . . said CDKL5, but because they scrawled “Rett-like” all over it in really big letters, I didn’t even realize that she had CDKL5, so I started Googling Rett. That’s how much I didn’t know. . . . For the first probably six hours, I was on Rett pages, and it was only as I was sitting there at midnight in my bed crying and rereading this diagnosis that I was, like, ‘Okay, there’s some other letters here I need to Google.’ That’s how little we had walked away from this appointment with.” (participant 25)  “The geneticist was literally in the room for two seconds to tell me, ‘Okay, we’re just letting you know it’s CDKL5. There’s nothing we can do at this point for you. Here’s my card and if you need to call me this is my number.’ Then she walked out.” (participant 39)  “I was in the hospital with her. . . . They [neurology team] were rounding [and] my husband had not gotten there yet. . . . The neurologist [accompanied by the rounding team] came in and said, ‘Hey, we found the reason for your daughter’s diagnosis. We’re not going to tell you about it now because it’s not associated with good things, and we don’t want you looking it up. It’s sort of like Rett syndrome, and somebody will come back and talk to you.’... At that point, everybody’s staring at me, and then . . . they all walk out. . . . I’m somewhat familiar with Rett syndrome.... I was really upset and ready to cry. ... I’m holding my [infant] daughter and just got really terrible news, and I don’t know anything about it, and I have no idea when I’m gonna get any information. ... I was completely overwhelmed.... I felt really scared and really sad. Angry, I was really angry in the moment of how they were delivering the diagnosis. I was like, ‘Are you kidding? Is this really how this is gonna happen?’ I don’t know what the right word is, but I just felt really small, like I don’t—there’s all these people watching me, and this is just not—I don’t want anybody to be here right now.” (participant 1008)