3.1. “The Way We were Told”: Diagnosis as a Traumatic Event
3.1.1. Intrusion and Taking Away of Control
All parents described similar experiences of unexpected visitors to their homes, interrupting everyday life with a newborn. Sue, whose husband was working away, described this:
SUE: “A lady come to the door, and she just said […] she’d come in to talk to us, I’d no idea who she was or anything like that, so she just came in, and then she sat me down.”
The behaviour of the professional felt intrusive and transgressive—unlike usual interactions, the visitor came in without asking and without Sue knowing her identity. Sue appears not to have had control in this moment, which immediately raised alarm—Sue’s husband “had to rush home.”
Guy, whose wife Liz was out at the time, described the visitors as “[…] insistent, y’know, get your wife back home”. Guy instantly felt something was wrong:
GUY: “Got a knock on the door, two health visitors come round, unannounced, and I know from experience when people come around unannounced it’s not great news.”
Molly, who was at home with her two young daughters, described her experience:
MOLLY: “The door went, in walked two health visitors to basically tell, tell us the news […] and especially because I was like breastfeeding as they arrived as well, you just, you feel very vulnerable […] it’s just not a nice thing to have strangers turn up at your house.”
Again, they came uninvited, immediately creating a power imbalance. Molly explained that she felt vulnerable—arguably the antithesis of what healthcare should feel like.
Sadie also experienced the timing of the visit to be inappropriate and intrusive:
SADIE: “kids’ dad was saying ‘Well can’t you come back?’ and she was going ‘No, I need to come in now’… cos I was having a sleep with Mia, she went ‘You need to wake mum up’, so we got told to come down the stairs.”
Although medically necessary, the visitor’s insistence on coming in takes control away from Sadie and her partner and connotes a sense of worrying urgency.
For another parent, the sense of alarm, vulnerability, and loss of control was harmful:
ANNA: “They said ‘Can you talk? We need to speak to you. Can somebody have the baby?’ […] and I said, ‘Yeah, why?’ and she said ‘Just, you need to get, give your baby give the baby to your mum.’ […] and she just sat us down didn’t she and said ‘I’ve got some [pause] bad news’, […] I honestly thought she was coming to have me sectioned.”
The urgency of the visit, intensified by having to hand the baby over, compounded Anna’s feelings of vulnerability. Having experienced postnatal depression, Anna was frightened that she was being sectioned—an ultimate example of having control taken away. The visits, and the manner in which they were conducted—the sense of urgency, without prior warning—sent the message to parents that something was terribly wrong and impacted on their interpretations of the screening result as a serious, life-threatening diagnosis. In general, parents had strong, lasting memories of the visits as negatively affecting their experience of home life with their new baby.
3.1.2. Fear, Grief, and Threat to Child’s Life
Parents varied in their willingness to discuss their psychological responses to diagnosis during the interview, some appeared more pragmatic, suggesting “the way you find out” (Molly) should be changed. Communication of the screening result led to all parents’ initial belief that their child had an unequivocal CF diagnosis. Liz described the fear this caused:
LIZ: “I think it’s scary wasn’t it? Cos all of a sudden, because the way it was put across to us by the health visitors is that Ava had CF and that was final […] wasn’t a chance that she didn’t have CF so it was us trying to accept that […] it was scary, upsetting, worrying—of how we were gonna manage—A child with CF.”
Liz, a healthcare professional with knowledge of CF, was forced to face a challenging new future. All parents knew of CF as serious, with a poor prognosis, as discussed by Sadie:
SADIE: “The time’s gonna come when Mia’s in hospital, she’s gonna miss out on school trips gonna miss out on birthdays […] might not even have a Christmas, we don’t know.”
Though she knows that Mia (now 8) is well, Sadie maintains that she “is not a normal child”, and appears to have retained the fear of her daughter’s life being severely limited: “Is the day and the time gonna come where, y’know, it’s gonna kill us?”
Harry interpreted his son Ben’s diagnosis through his own personal history of loss:
“Bombshell wasn’t it? It was confusing, cos my dad died when I was 10, and I imagined Noah at that age at his brother’s funeral, and that was all that was going through my head at the time.”
Harry emotively described his all-consuming grief, the term ‘bombshell’ connoting total devastation, illustrating how diagnosis is not received in isolation, but interpreted in the context of personal factors. The ultimate fear of a child dying was also experienced by Sue:
SUE: “She said it was cystic fibrosis […] I just kept saying to her ‘Oh my god is she gonna die, is she gonna die?’, and she just said ‘Well I don’t, I can’t say anything like that obviously’ so she just said ‘You need to speak to someone at the hospital’.”
The visitor’s communication took Sue immediately to fearing and begging for her child’s life. The visitor appeared to give a standardised pat response, leaving Sue’s desperate need unmet.
3.1.3. Information Sufficiency
Parents unanimously felt initial information was inadequate and inappropriate. Disappointment and exasperation were palpable in their recounts:
JIM: “We didn’t get any kind of level of information really, apart from they said that this had come back on the screening and they left a leaflet which was about CF […] that said your child might not make it to 30. And had no information other than that.”
They were visibly frustrated about the “very outdated” leaflet (Molly), blaming it for the initial belief that Ruby had “classic CF […] shortened life expectancy and all of that” (Jim). This is echoed by Sue, whose visitor “was in and out within ten minutes”, as if on an errand:
“…and she’d gone [sigh]. So she left us with a pamphlet, it was quite old it was an old pamphlet, it does it needs a lot of updating, and when you go onto the internet and you read it up about it it’s very scary.”
Sue was triggered to fear for her daughter’s life, yet she did not feel she was given adequate information. The phrases ‘she’d gone’ and ‘she left us’ suggest Sue felt abandoned. Although “you try not to Google” (Liz), parents needed information as soon as the alarm was raised. Unfortunately, this led to inappropriate information, perpetuating diagnosis fear:
HARRY: “I just couldn’t get my head round what it was, and I remember she said ‘Don’t go on the internet to look at it’, what a ridiculous thing to say, who’s not gonna do that? So we went on the internet obviously, and er after she’d gone, and that’s when you see things like iron lungs, average life expectancy 40, and you think [expletive], pardon my French but… I dunno, it’s just, worst night ever wasn’t it.”
Harry suggests that parents’ strong need for information renders the suggestion of not going on the internet unrealistic. Doing this after the visitor left sounds surreptitious, suggesting a breakdown of trust between parents and healthcare professionals. Like Sue, the information exacerbated distress, leaving a vivid impression five years later. Of note, many parents reported they were signposted to the CF trust website by the hospital team and found this site was very useful, both in terms of information and peer support from other families.
Sadie’s account differed from the other participants’, as at the time of the diagnosis she was in an abusive relationship, and did not feel able to engage with the information being given:
“It wasn’t real […] I was just numb and not understanding […] I weren’t really that much aware of what was really going on, all I was really trying to do was keep my head above water.”
Sadie’s account highlights the issue that, in difficult circumstances, there may be barriers to understanding. Families may need additional support to understand the screening result.
3.1.4. Extended Issues of Heightened Health Risk Perception
In the period following diagnosis, parents felt a range of negative emotions, such as Sue, who questioned her parental role:
“What am I gonna do? Is she gonna be in and out of hospital all the time, is she gonna be really ill? How am I gonna cope?” […] It wasn’t so much emotional as trying to fit things in, and I think that’s the way I went for a very long time.”
Sue was reacting to demands of managing a serious illness, causing anxiety and self-doubt, years after she was told that Tilly had CFSPID (not CF). This eclipsed her ability to process her emotional reaction. Molly and Jim had a visceral initial reaction to heightened health risk “…cleaning constantly, I had the most horrendous eczema on my hands, because I just wanted everywhere to be clean” (Molly) and were perhaps the highest seekers of ongoing reassurance from professionals that they were doing “…the right thing” (Jim) for 4-year-old Ruby. The assumed burden of serious illness also affected other parents:
LIZ: “I felt really guilty for having her […] It’s just a responsibility that you’ve had this child who’s now got this horrible condition, and that we’ve made her.”
This burden of responsibility and self-blame is still remembered vividly two years later. This extended ramification of genetic diagnosis was also felt by Anna and Harry:
ANNA: “I used to say were me and Harry not meant to have children, cos our faulty genes clashed together […] y’know, if you’d had children with someone else you wouldn’t have had a child with CF probably.”
The guilt and blame associated with the diagnosis caused Anna to doubt her relationship with her husband. Again, 5-year-old Ben is referred to as having CF. Anna and Harry had wanted to have another baby but, due to the diagnosis, did not go on to do so. Both have experienced mental ill health, which they attributed to the impact of the diagnosis:
HARRY: “Everything changed for us didn’t it, everything blew up […] Looking back we probably both had depression didn’t we, at some stage over the last five years.”
Again, Harry’s language connotes the destructive effect the diagnosis had on him and his family.
In Sadie’s relationship with her ex-husband, the diagnosis added a further stressor:
“I honestly believe that I stayed with him because of Mia’s condition […] it was ‘can I manage raising a child with a chronic illness on my own?’”
Like Sue, Sadie doubted her ability to care for her child. In an abusive relationship, this was exacerbated and the idea of Mia’s “chronic illness” further controlled Sadie into staying, facing and challenging traditional ideas about health and illness.
3.1.5. Compressed Diagnostic Odyssey
Accounts of the diagnostic process highlight that it can feel overwhelming. From the initial home visit, parents are fast-tracked to a hospital appointment the next day. This sudden shift is apparent in Sadie’s account:
“[The visitor said] ‘you’ve got an appointment 9 o’clock with the [hospital] team which is centre of excellence, they’ll be all waiting for you…’, sorry it’s getting a bit emotional […] the team were all there explaining and again I was in denial.”
Sadie depicts a whole new cast of characters suddenly all there waiting for her, perhaps before she was psychologically ready to engage with the process and their explanations.
Liz’s ‘compressed diagnostic odyssey’ was evident in her vivid recollection of the specific days of the week when the medical procedures took place. Her memory of “all the different stages” suggested an indelible memory of undergoing the process, yet she struggled to recall the specific medical terminology “…then we went to [hospital] so they could do a more—oh what’s the word?—a different type of sweat test”. These contrasts connote the incongruity of the medical world and her world. Sue describes her experience similarly:
“The next day we went to the hospital and met the respiratory team, and—It placated us a lot because they told us that Tilly was CFSPID […] what they wanted us to do was come in for lots of tests and take her for a sweat test, she wanted to start her on a course of erm antibiotics straight away, and all the other erm… she needed fetal [sic] elastase tests [...] hospital over the next six weeks quite a lot, er found out that she was pancreatic sufficient so she didn’t need any enzymes, er then we put her in for a sweat test, but it was inconclusive so she’s had to have another four or five.”
Sue was instantly immersed into a tangibly exhausting series of procedures, the unfamiliarity of the medical world connoted by her hesitative use of terminology. Sue’s ‘placation’ on learning of CFSPID reinforces the state of high-distress she had been in, like Harry, for whom the outcome was that “I didn’t think he’d be dead by age 5 anymore”. Indeed, although all parents described the diagnostic process as exhausting, they unanimously saw “the hospital day” (Harry) as a turning point, when they received adequate information and support, “we met the consultant who was then fantastic […], and who explained the whole thing” (Jim).
3.1.6. A Situation that is Incongruent with the Traditional Medical Model
Rather than noticing symptoms and obtaining a diagnosis, parents were suddenly given information that clashed with their experience of their child “as far as I knew she was fit and healthy” (Sue), “she’s not in hospital… she hasn’t got an open wound” (Sadie). Guy described this:
“It was so out of the blue, it wasn’t like she was an ill child and then somebody comes to the door and goes, she’s tested positive for this, and you’d know straight away wouldn’t you, […] that fix the jigsaw that’s, that’s what we’re dealing with here, it wasn’t like that, she was healthy—still is.”
Guy’s jigsaw metaphor suggests his experience did not align with his expectations of the diagnostic process and was discombobulating. Anna explored the emotional impact of this:
“They say ‘Yeah, you’ve got a lovely healthy beautiful baby boy’, and they place him in your arms and you think phew, […] everything’s alright. And then 3 weeks later you’re told it’s actually not, and that’s really hard.”
Anna felt secure in the belief that she had a healthy child, only for this to be reversed. Anna experienced the same emotional impact as if Ben had a conclusive disease.
3.1.7. Utility of Labelling
Parents gave a range of interpretations of the power of the CFSPID label. For Sue, ordinary occurrences were interpreted in the context of disease:
“She has to be careful about where she plays, splashing in muddy puddles and things like that when she goes to play areas, if there’s someone coughing near her I have to make sure that they’re not coughing on her, cos she can pick up a cough quite easily. She seems to pick up everything that everybody else has got but, you never know how much of that is just […] child, and how much of it is what, what she’s got.”
Sue’s account suggests a struggle to reconcile a view of Tilly as a typical child with knowledge of CFSPID. Sue appears to need to hyper-control the environment, suggesting that disease is a constant threat. Similarly, Molly remained anxious that 4-year-old Ruby’s activities were potentially “dangerous for your lungs” (Molly). Inherent to these concerns is the continued threat of respiratory illness, conferred by their perception of the CFSPID label.
Harry discussed how the term ‘CFSPID’ was only introduced to him and Anna recently:
“I never refer to him as SPID, I just say he’s got CF […] I throw in sometimes that it’s associated with a milder form, but when you’re talking to people, on the whole, they don’t know anyway, so […]”
When asked about the effect of the new label, neither parent felt it had changed their thinking. Harry suggests that one use of a diagnostic label is communicating with others about his child. He does this by reverting to the known diagnosis of ‘a mild form of CF’.
Liz and Guy also discussed the utility of a diagnostic label as a communicative tool, such as for school, “I don’t put it on forms or anything cos she hasn’t got a condition” (Liz). Unlike other diagnoses, CFSPID does not allow intervention and treatment, “You’d only put something in if there’s a practical […] but they couldn’t do anything” (Guy)—so they have no place for it in their lives: “The thought of it being used as a label drives me insane, I couldn’t imagine it” (Guy). Jim also considered this issue, with a different outcome:
[…] whether there was kind of even a consideration as to whether people need to know if their child’s got CFSPID? Erm, but I would say for us, I would still want to know—cos even though it’s not impacting on our life we’re still doing things as preventative, to make sure that she’s gonna be as healthy as possible, even though she’s not symptomatic. So there would never be an occasion where I think, ‘oh I wish I didn’t know’.”
Jim’s hesitance suggests he may have felt uncomfortable raising this, as medicine is traditionally revered. Jim concluded that knowing about CFSPID is right for his family but acknowledged that others may feel differently. Interestingly, a healthy child in context of CFSPID becomes “not symptomatic”, and routine healthy choices become “preventative”.
Like Sue and Jim, Sadie appeared to value the greater control over her child’s health risk:
“I feel she’s a bit more fortunate […] gets a first-class MOT every year […] anything that’s gonna go wrong […] we’ll be ahead of the game every single time.”
Although presented as a positive aspect of CFSPID, Sadie’s consideration of what may “go wrong” suggests constant apprehension of illness developing. Her insights hint at a new medical model, or set of beliefs about how illness is identified and managed, based on monitoring for known risks:
“Is it gonna cause problems is there gonna be issues, yeah, it’s like having fair skin, if you go in the sun too long you’re gonna get burnt, but if you put a factor on, y’know, you’re gonna prevent it.”
Sadie’s analogy raises questions about predictive medicine. A genetic propensity to sunburn is not a diagnosis, whereas CFSPID carries additional meaning and effects.
3.2. Making Certainty Out of Uncertainty
3.2.1. Liminality and Uncertainty
All parents were asked to place their child on a continuum of ‘completely healthy’ to ‘serious health condition’ and explain why. Some appeared to find this challenging, “erm… I think she’s probably just under halfway” (Sue). Anna and Harry also put Ben “right in the middle, cos we don’t know yet, it could go either way” (Anna), suggesting the inconclusive diagnosis put them in a liminal space:
HARRY: “… and if it wasn’t for that potential you’d put him up there wouldn’t you [‘totally healthy child’], but yeah probably middle because there is that chance […] but we are taking into account the potential for things to go wrong, if it was just today and you didn’t know he had it you’d put him as completely healthy wouldn’t you.”
Though Ben appears healthy, the underlying genotype stops Anna and Harry seeing him as so, with both concluding “It’s the unknown.” Multiple references to uncertainty, “we don’t know yet”, “potential”, “could”, “chance”, suggest the parents’ apprehension.
Liz and Guy were the only ones to thoroughly reject the diagnosis, “[laughing] no question, I’d put her here [marks ‘completely healthy’]” (Guy). Guy appeared to find it laughable that this was even being asked. However, by taking part in the interview, he was perturbed to realise that the picture was not as certain as he had thought, “I mean […] do people mark here? [‘serious condition’]”, “I’m just trying to figure out [...] how could you say […]?”.
Sadie marked Mia ‘completely healthy’, but also conceded “you don’t know what’s round the corner for these kids, they’re doing fine now but in 5, 6 years they might not be”. The uncertain future was also discussed by Molly and Jim. Molly quickly marked Ruby ‘completely healthy’, but Jim suggested it is less binary, “[…] up towards this end”. Despite her previous certainty, Molly acknowledged the “chance” of a less positive outcome:
“[The doctor] said, ‘We still don’t know what 30 years, 40 years will look like, on her lungs’, so y’know it’s still keeping that in in the back of our mind all the time that there is that chance […] Especially cos they don’t know what the future could look like, it’s that uncertainty now, for this type of generation.”
Molly notes that CFSPID’s long-term prognosis is unknown for both parents and professionals, which again may shake the traditional view of medicine as a certain institution.
3.2.2. Tension of Idiosyncratic Forms of Certainty
Individuals created their own unique certainties to resolve the uncertainty of CFSPID. Dissonance arose between parents and children, professionals and parents, and within couples. For Sue, certainty appeared to be conferred by the prophylactic medical regimen that 3-year-old Tilly has been on since diagnosis:
“It was gung-ho from the start and we’ve never really minimised anything we’ve never dropped her medication [...] all this prevention has stopped her getting ill, she could’ve been very poorly, we’ll never know will we.”
Sue cannot be sure that intervention makes a significant difference, but by embracing diagnosis she is reassured by the medical world. Medication is seen to prevent illness, but also keeps Sue’s uncertainty and anxiety at bay. Sue sees the diagnosis as her battle (“gung-ho”), allowing her greater control over Tilly’s health. This is similar to Jim’s account.
In contrast, Guy, whose daughter Ava is not receiving treatment, rejects the diagnosis:
“It doesn’t achieve anything, she’s not ill so you can’t say she’s got anything [laughs] […] There’s no effect on her life, no effect on our life—we were made aware of it, it was dealt with […] No so I don’t, er I dunno how you could say you’ve got, how people would say their child’s got CF or anything cos they haven’t.”
Guy and Liz appear to attempt to understand the situation by vehemently rejecting diagnosis, appearing to find it unfathomable that anyone would see CFSPID as such. However, Molly’s story suggests this line cannot necessarily always be firmly drawn:
[the daughter] used to say she couldn’t tidy up because she’s got cystic fibrosis […] she tried to use it as an excuse, but we’ve told her she’s got no excuse because look, a completely healthy child should do all the tidying up, shouldn’t they Ruby?”
The power of labels is apparent in this example of a very young child embracing diagnosis. Molly and Jim reject the idea of Ruby seeing herself as ill, invoking ‘a healthy child’ to help her understand her identity. However, Ruby’s awareness of ‘having CF’ suggests that, at a young age, her sense of her situation potentially diverges from her parents’.
Different conceptualisations of CFSPID were not limited to individuals and families. Anna and Harry discussed the recent introduction of the CFSPID label, highlighting the dissonance between their views, and the views of healthcare professionals:
ANNA: “Yeah they said ‘oh we’ve got a new term now for Ben now he’s a CFSPID’, I said it sounds like it’s an insult.”
The account of the doctor casually mentioning this is at odds with the emotional weight of their interview. The introduction of the new label appears to have undermined the certainty that they had worked to achieve over the years. Anna’s creation of certainty involved using her understanding of a traditional medical model to understand and accept the diagnosis:
“We do know that he’s got a faulty gene that does affect, it doesn’t work as well as ours does at getting the salt and the chloride around the body, we do know that he’s not completely healthy even though he looks it […] it’s a fact.”
Anna appears more deterministic than Harry, who focuses more on the phenotype (“surface level”) than the genotype. Harry suggested that the impact of the diagnosis, and the discrepancy between their individual adaptations to CFSPID, has caused damage: “I think it’s had lasting probably detrimental effects on the marriage […] the dynamic has changed”.
Discrepancy was also experienced by Sadie and her ex-husband, with deleterious effects: “He accused me of Munchausen by proxy” (Sadie). Sadie’s ex-husband is able to reject CFSPID entirely in a way that would be impossible with a more obvious condition, leading to potential psychological harm. Again, because CFSPID is unseen and uncertain, Sadie was frustrated by inconsistency (“moving the goalposts”) from the professionals whom she looked to for guidance with shared custody. This exacerbated an already difficult situation:
“The physio had to be done, and then it’s like ‘Well if dad doesn’t do the physio, as long as she’s having a little run round’, and I’m going ‘Which is it?!’”