Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs
Abstract
:1. Introduction
- How does the presumptive diagnosis of a potentially NBS-identifiable condition impact these families’ accounts of their diagnostic odyssey?
- How do these caregivers describe the evolution and communication of diagnosis, prognosis, variation, and uncertainty as they navigate the process of understanding the child’s condition?
- What meanings and themes arise when these caregivers discuss their experiences with caregiving regarding their past and present reality in the context of a diagnostic odyssey continuum, as well as its impact on future planning?
- What lessons can be learned from the themes identified from these caregiver perspectives to optimize ethically nuanced NBS expansion augmented with sequencing?
2. Materials and Methods
2.1. Procedures
2.2. Sample Characteristics
2.3. Analysis
3. Results
3.1. Domain 1. Medical Management Implications of a Child Diagnosed with NBS-related Condition: “there’s so much, still, that’s unknown” (747000)
“There was a lot of unknowns, a lot of unknowns. What is his condition? And what’s it all going to mean?” (747001)
“-- we had a doctor tell us one time that if it has hooves it’s probably a horse and not a zebra. It’s like, well, we were the zebra. Like [child], you know, didn’t have reflux, he had a metabolic disease…” (119000)
“We were really worried initially about [the child]’s, like, physical health. Like, there wasn’t very much research on his disorder and what there was, kind of, was very dire and like, ‘Oh, he could have these medical crises at any second.’” (702000)
“We just don’t even have any clue what the outcome’s going to be like in this… The spectrum is so wide.” (116001)
“When you read things online, it can be, like, sort of, like, worst-case scenarios… when I first read about [condition] when he first got diagnosed, like, this could be true, but this hasn’t turned out to be true for him or the majority of other patients we know.” (126004)
3.1.1. “And then the next day we heard, ‘[condition]’, and it has just been a whirlwind since then.” (140000)
“…neurologist at the hospital—he said something I’ll never forget… ‘as soon as something like this happens, all they [sic parents] think about is, ‘Is my baby going to die? …You just need to be aware of where your mind goes when you look at your child. Especially when they’re at the doctor, or you’re getting new and different news about the diagnosis.’ And our geneticist in [city] told us that he—because I asked him point-blank, ‘Okay, so what’s the lifespan for a kid who has this?’ At the time, we didn’t know his mutation. He told us maybe 11 or 12 years old.” (112000)
“-- when he was in the hospital as a brand-new newborn,…. I said, ‘Man, let’s keep things in perspective. The baby next to us has to get a liver transplant,’ and that, like, things were much worse for them than they were for us. And then, eight months later, there we were, getting a liver transplant.” (126004)
“Well, it was caught in the screening. However, I think it took too long, because she was 7 days old when we got the call that something was abnormal on the screening, but she was already sick by then, and they—all they said was, ‘Abnormal.’ So, we took her to the pediatrician. They did more bloodwork and, I think, got urine and stool samples, something like that, and sent it off and told us -- … told us to keep feeding her. Well—but it was the next day that we were in the ER…I mean, it was newborn screening-detected, so that’s great. That probably saved her life. She might have been a SIDS baby otherwise. But…knowing about it sooner would—could have possibly prevented the metabolic crisis.” (140000)
“…but then his dad was like, “We’ll just wait until the doctor contacts us, or like contacts us, and like, you know, they’ll handle it”, but they didn’t, and then he had like seizures and he had to keep him in NICU.” (148000)
“-- all of the initial testing where…we were kind of naive and, like, we didn’t know, like, of course we were going to go along with what the doctor said, and like, it’s kind of like they tested the same thing four times just to make sure.” (745000)
“Yeah, well, that’s the thing. Like, I don’t feel like—now, in our first year it was a lot of new information thrown at us all the time. He had 86 doctor’s appointments in 10 months.” (401000)
3.1.2. “-- just make sure you learn as much as you can” (150001)
“It’s pretty overwhelming. Like, it’s pretty, like wow, like this is intense, you know, to not only be in—like to be the one that’s, you know, helping to keep these kids alive, but like to like, have all this medical stuff that you have to do along with it. So, it’s definitely a learning curve, like you learn a lot of information that no one else understands, unless you run into someone who understands it.” (110000)
“Well, I was the one up on the internet, you know, up on the computers trying to research—he was detected through newborn screening that [child] had [condition] …And no one at the hospital where he was born had—knew what this was… So, even though we were in a big city hospital with all these great doctors, no one had heard of this…condition.” (747000)
3.1.3. “like, become informed, because you’re going to have to be an advocate when your child has a rare disease” (126004)
“Recognize that if you want your child to have the best care, you’re going to have to really do that research and, like, stick up for things, because many doctors have only seen one or two cases of this in their career.” (126004)
“-- we take the time to go see a doctor four to five hours away, we have a list of questions… then we have time for other questions that may arise spontaneously… But I think the organization and the openness in conversation and planning ahead has helped.” (112000)
3.1.4. “finding those right doctors … is the most important thing” (116001)
“I went to [advocacy conference] in 20##. That’s where I actually met [child’s specialist]. He was speaking there… And I’m a little shy, so <unintelligible> I walked up to him and I said, you know, ‘Are you taking new patients?’ And I almost made an appointment right there. So, that was how we connected with him and we’ve been very happy with [hospital’s] team.” (116000)
“The best advice I can give is make sure you find a doctor that will listen to you… She could look at him and tell, like, “Okay, something’s not right.” Or she can smell him and tell that something’s not right…-- just know your kid.” (150001)
“I think like a big thing with me is dealing with, like, trust with doctors because when [child] was diagnosed, the doctor said, ‘He doesn’t have [condition]. There’s no way he has [condition]. It’s too rare of a disease…Like he—you know, he doesn’t have it.’ So then he ended up having it. So now, like, if, you know, there’s a health issue that arises and the doctors say we don’t have it, I don’t believe them and I don’t trust them, you know.” (119000)
“He’s a person with feelings and experiences and day-to-day life, you know, that have to be taken into consideration. And they just kind of view him as, like, ‘Wow, this is exciting. Like, once in a lifetime we get to see one like this.’ You know, stuff like that. We’ve had people—doctors—say that to us. And I find that to be very offensive and (laughs) detrimental to the relationship…But because they had no ability to care for him personally, you know, we kind of eliminated them from the repertoire of people we had to see… And I always have thought here that they’re goal is not just to, you know, learn about this science experiment, but they’re goal is to give [child] the best quality of life he can have.” (141000)
“…trying to be assertive, as well as respectful, and get heard, like, can be really hard things when you’re dealing with, like, the medical community and you don’t have any kind of degree you feel, like—and you’re, also, just trying to learn it through, like, a psychosocial component of that, too. Because different medical doctors have different personalities and, like, different triggers, right? Like, if I say something one way to one doctor, it’s going to rub him the wrong way. And, then, he has a perception of me. And, then, like, I don’t know. Like, you hope that they hold you with as much grace as you try to hold with them.” (747000)
3.1.5. “Unfortunately, the situation isn’t such what … we have this treatment and that treatment. It’s so specific and so specific to our own family…” (700001)
“… So, I called Dr. [X], and I said, ‘What do we do? What are our options?’ He said, ‘Well, we could do a liver and kidney transplant when he’s about three months old.’ And at that time, and still, kind of still actually, there’s still lots of problems that go on with transplants. You don’t just give someone a transplant, and they live 80 years, and they’re perfectly fine. I mean, you do have stories like that. Don’t get me wrong. But when you have [condition], there’s still other problems that are associated with these kids, so it doesn’t just all of a sudden, rainbows come out and the sun’s shining and you don’t have any more problems. It’s not like that.” (100000)
“I mean, when he was age zero to three, before that liver transplant, every day was, like, brutal. He was so volatile from a health perspective …in hindsight, I think we thought, at the time, the G tube represented failure to some degree. But I think as time went on, and his issues became more clear, and the reality of things became more clear, you know, we kind of pulled the ripcord and got that G tube put in …We probably should have done that sooner, but, you know, you live and learn or whatever. And then, the liver just changed everything…I mean, he, you know, we were at the shore, you know, watching him run down the boardwalk, you know, and unfortunately, that stroke robbed him of that kind of stuff. And you know, the biggest—the shame of it—of everything he went through and all the issues he faces and that damn stroke, like, robbed him of, and created challenges for him on a day-to-day basis that don’t seem like they’re going to be able to be significantly mitigated.” (135001)
“It’s not like it’s something that everybody has and they’re going to be looking—…for a cure. It’s the way that you’re going to solve this disease--the only way you’re going to cure this is that there’s going to be some—somebody’s going to come with some breakthrough in like genetic sequencing or something or being able to change, you know, change the genome around, or you know, make those kind of changes that can be generic for every kind of disease.” (116001)
“We are very positive…We think that, “Okay, this will work out.’ He have a [sic] deafness, we got cochlear implant for him. He’s losing his vision. We are hoping, and we are very positive, that someday they will come up with something where his vision problem will be solved. Some genetic modification or some gene therapy or something.” (134001)
3.2. Domain 2. Psychosocial Implications of a Child Diagnosed with NBS-Related Condition: “We just don’t even have any clue what the outcome’s going to be like in this.” (116001)
“And when you have a child with an inborn error of metabolism, every day is unknown. There are worst case scenarios that are very real, and possible, and even sometimes probable.” (722000)
“But it was a relief many ways to meet other families whose children were not severely—I mean, there were some who had more severe parents [sic patients] but some whose kids seemed pretty normal, so that was a lot better than, you know, what the doctors that we currently had, the picture they were painting.” (116000)
“I went to some parent group when he was in—early on, and they were like, [the child] will—he will do his own thing. It will be his own path, and there’s no—there are no marks for this road. You don’t have any benchmarks…It’s just a different perspective once you recognize he won’t ever fit in this normal box, so it’s kind of freeing that way.” (149000)
3.2.1. “…We’re kind of in a battle rhythm…we know for the most part what we’re dealing with.” (126001)
“Getting used to just kind of living with the uncertainty, and living with that, you know, being ready to, you know, change tactic at a moment’s notice.” (138001)
“And try to adjust your life. You don’t have to live in a cave and not travel anywhere and, you know, -- this family said the doctors told us that, you know, she needs to stay home and not leave because if it gets too cold they could die. Well, yeah, they can. But is it worth living your life that way? …For us, you know, [the child] needs to ride rollercoasters. So what if she shouldn’t because she’s got problems with her heart and stuff? If she died on a rollercoaster, that would be great because she would go out happy.” (131000)
3.2.2. “And you learn to appreciate what you have and not what you don’t” (126001)
“And actually, life becomes normal and a lot of the time you don’t think about it. When you get used to it it’s just your life and our life is normal. And you have feelings in the beginning that you shouldn’t be afraid of, to express. If you feel like you wish you wouldn’t have had that child, allow yourself to feel it. Allow yourself to feel everything because you have to work through all those feelings.” (107000)
“people need to be as educated as they can about the disease process so that they can try to minimize any problems. But then, at the same time, you have to embrace that there’s a lot of things outside of our control.” (127000)
“And you know, certainly, I’ve accepted some realities over time, and adjusted what I thought ‘good’ looked like.” (135001)
3.2.3. “fear of the unknown, fear of the unknown future” (119001)
“-- you kind of have this whole future planned out in your head for them, and then, when you get this diagnosis, it’s just like—almost like a punch in the stomach. Like, you don’t—everything becomes uncertain, unstable, and it’s very—I mean, it’s heartbreaking.” (740000)
“-- you don’t know when something bad can happen, so I’m always thinking the worst. I don’t really know. Like, I don’t—I don’t know if my kids are going to go to college. I don’t know if my kids are going to, like, have families.” (146000)
“I think when [child] was younger I had so many goals and so many, I don’t know, things in mind for him or hopes and stuff. And it was so painful when, I guess, things kind of would slowly but—it’s interesting because I think when he was really tiny, like a little baby, I think part of me already knew how bad things were going to be at some point. And I didn’t want to like accept that, so I kept hoping things were going to change or get better, or he wouldn’t be as bad as I guess I thought. And I think it has turned out to be as bad as I feared (laughs)—very early on. But, I don’t know, I feel like that’s almost part of the coping that you like—you come to accept that little by little, rather than just—because it’s too much. Like it’s too overwhelming to try to accept the depth of how bad things will be. Like at—all at once, you know?” (141000)
4. Discussion
4.1. Domain 1. Medical Management Implications of a Child Diagnosed with NBS-Related Condition
4.2. Domain 2. Psychosocial Implications of a Child Diagnosed with NBS-Related Condition
5. Limitations
6. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Participant Characteristics (N = 169) | M (SD) or % (N) | |
---|---|---|
Gender | ||
Female | 66.9% (N = 113) | |
Male | 33.1% (N = 56) | |
Age | M = 43.3 years (SD = 12.7) | |
Marital status | ||
Married/living as married | 82.2% (N = 139) | |
Never married | 7.1% (N = 12) | |
Divorced or separated | 5.3% (N = 9) | |
Widowed | 0.6% (N = 1) | |
NA | 4.7% (N = 8) | |
Kinship | ||
Mother | 44.4% (N = 75) | |
Father | 26% (N = 44) | |
Sibling | 3.6% (N = 6) | |
Grandparent | 14.2% (N = 24) | |
Aunt/uncle | 5.9% (N = 10) | |
Other kin | 1.2% (N = 2) | |
Non-kin | 4.7% (N = 8) | |
Education Level | ||
Middle school/some high school | 1.2% (N = 2) | |
High school graduate/GED | 10.1% (N = 17) | |
Associate degree/technical training | 22.5% (N = 38) | |
Bachelor degree | 42.6% (N = 72) | |
Post-graduate degree | 20.7% (N = 35) | |
NA | 3.0% (N = 5) | |
Income Level | ||
>USD 200,000 | 11.8% (N = 20) | |
USD 100,001 to USD 200,000 | 28.4% (N = 48) | |
USD 50,000 to USD 100,000 | 29.6% (N = 50) | |
USD 20,001 to USD 50,000 | 16.0%(N = 27) | |
<USD 20,000 | 4.8% (N = 8) | |
Don’t know | 5.8% (N = 10) | |
NA | 3.6% (N = 6) | |
Race | ||
White | 84% (N = 142) | |
Black or African-American | 3.5% (N = 6) | |
Asian | 3.0% (N = 5) | |
Mixed race | 3.0% (N = 5) | |
Other | 4.1% (N = 7) | |
NA | 2.4% (N = 4) | |
Ethnicity | ||
Hispanic or Latino | 5.3% (N = 9) | |
Non-Hispanic or Latino | 90.0% (N = 152) | |
NA | 4.7% (N = 8) | |
Child Characteristics (N = 77) | M (SD) or % (N) | |
Gender | ||
Female | 36.4% (N = 28) | |
Male | 63.6% (N = 49) | |
Age | M = 10.3 years (SD = 7.8 years) | |
Diagnosis Category | ||
Organic acidemia | 80.5% (N = 62) | |
Fatty acid oxidation disorder | 5.2% (N = 4) | |
Carbohydrate metabolism disorder | 1.3% (N = 1) | |
Lipid storage disorder | 3.9% (N = 3) | |
Mitochondrial disorder | 3.9% (N = 3) | |
Undiagnosed condition | 5.2% (N = 4) | |
Childhood Activities of Daily Living | ||
Life skills [Range: 0–20] | M = 12.9 (SD = 6.7) | |
Social skills [Range: 0–16] | M = 7.6 (SD = 5.5) | |
Behavioral [Range: 0–24] | M = 3.3 (SD = 4.0) |
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Bush, L.; Davidson, H.; Gelles, S.; Lea, D.; Koehly, L.M. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs. Int. J. Neonatal Screen. 2022, 8, 35. https://doi.org/10.3390/ijns8020035
Bush L, Davidson H, Gelles S, Lea D, Koehly LM. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs. International Journal of Neonatal Screening. 2022; 8(2):35. https://doi.org/10.3390/ijns8020035
Chicago/Turabian StyleBush, Lynn, Hannah Davidson, Shani Gelles, Dawn Lea, and Laura M. Koehly. 2022. "Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs" International Journal of Neonatal Screening 8, no. 2: 35. https://doi.org/10.3390/ijns8020035