Table 3:

Impacts on Child’s Healthcare Management and Access

	Diagnosed	Undiagnosed
Positive Impacts	D10: Had we not gotten the diagnosis and had she not been referred to Cardiology, we would be dealing with a much more fatal condition… I feel like the biggest change was the relationship between us and like her general practitioner…. I felt like they finally took my concerns more ser…like I was no longer that worried first-time mom. (Mother, White) D14: I’d say that’s a good thing to get the diagnosis because we added, we tweaked their supplement regimen. We had started a, you know, [mitochondrial] cocktail of sorts…I would say we did see a difference, you know, that did at least initially seem to help them…. maybe it’s just a placebo, maybe it’s just like the fact that you’re…you have control over this, you think you’re doing something. (Father, White) D05: It feels like it [the diagnosis] comes up … definitely with [California Children’s Services]…for getting a wheelchair or whatever… justification stuff. (Mother, White)	U13: [The UDN] was instrumental in helping us have a road map, so [they] connected us with several physicians at [the hospital] so we went and saw all like different specialties. (Mother, Asian)
Mixed Impacts	D27: They told me what tests they had to do with [my children] as follow-up with their doctors. Like, for example, they asked that they do an ultrasound with [my child] every three months… Because of her diagnosis…she didn’t qualify to be in [California Children’s Services] anymore. Because it wasn’t a cerebral diagnosis or anything like that, something in the brain. (Mother, Hispanic)	U29: The thing is that we come from a culture where we don’t start thinking about how “yes, it is a lot of blood, but your body will replace it immediately” …in [my husband’s] mind it was no, that’s not going to come back, now you aren’t going to feel well, you’re always going to feel ill. /// Thanks to God I’ve had a doctor who is very persistent, very stubborn, you could say. She’s done everything possible. (Mother, Hispanic)
No Impacts	D04: I think even the doctors here…they still keep calling it MS or, like or the general term like neurodegenerative disorder… sometimes they do refer, oh, it’s like this certain gene mutation…but it’s rare that they even bring it up…Yeah. I don’t think it matters in the grand scheme of things what exactly it is. (Mother, Hispanic) D06: I’m glad that we found something because it’s just…it’s frustrating to feel like there’s just no reason. Not that it gives us any kind of reason really, and it doesn’t give us a plan of action, and it doesn’t give us any change, really, in anything honestly. (Mother, More than One Race/Ethnicity) D01: Even without the [GENE] diagnosis she still would have [Medi-Cal] …with the other stuff happening with her, you know, the delay and stuff. (Mother, Asian)	U09: I: What information exactly did you receive from the UDN about the results of the test? R: I received one phone call…That was pretty much it. (Mother, White) U02: Because I think only diagnosis we have at this point proper is rheumatoid arthritis. And everything that they have to treat for the same things they had to use that to get approval for the medications. Those are very expensive medications, biologics, that we have tried for her. So it has put challenge because we don’t have an answer. (Mother, Asian)