Family Experience with Pierre Robin Sequence: A Qualitative Study

Abstract

Objective:

To identify concepts and constructs important to parents of children with Pierre Robin Sequence (PRS).

Design:

Qualitative study.

Setting:

All children received some care at a tertiary hospital with additional care at outside facilities. Interviews were conducted in nonclinical locations, including remote locations.

Participants:

Parents of children <5 years old with a diagnosis of PRS. Prior treatments included observation, positioning, nasal trumpet, mandibular distraction osteogenesis, tracheostomy, and gastrostomy.

Intervention:

Semi-structured interviews with individuals (4) and with groups (focus groups, 4) were conducted using open-ended questions and non-leading prompts. Transcripts were analyzed with iterative open and axial coding. Concepts and constructs were identified and refined into codes and central themes. Interviews were conducted until thematic saturation was achieved.

Results:

Sixteen parents were interviewed. Their experiences were coded into 5 main themes, which can be summarized as: (1) child’s symptoms/well-being, (2) parents’ grief/isolation, (3) family stress, (4) relationships with providers, and (5) psychological and technical growth. Difficulty with feeding, weight gain, and breathing problems were core physical issues described by participants with associated intense fear. Participants described frustration from not only lack of care coordination, slow diagnoses, and poor communication but also gratitude for providers who served as advocates. Participants described gradual development of knowledge/competencies.

Conclusions:

Families of children with PRS have experiences that profoundly affect their lives. Child’s physical symptoms/well-being and parents’ psychosocial well-being provide content for a future PRS-specific quality-of-life instrument. Concepts that emerged also provide a framework to improve parents’ experience and enhance their children’s quality of care.

Introduction

Pierre Robin sequence (PRS) is a rare congenital craniofacial abnormality occurring approximately once in every 8500 births (Khansa et al., 2018). Infants with PRS are born with micrognathia, which causes posterior displacement of the tongue, or glossoptosis. This results in upper airway collapse and causes significant breathing and feeding difficulties. Because of their precarious airways and complex needs, it is common for children with PRS to spend their first weeks or months in a neonatal intensive care unit (Hammoudeh et al., 2018). While some infants with PRS can be maintained through prone positioning, others may require a nasal pharyngeal airway to stent the airway open. Infants frequently require surgeries to improve and stabilize the airway (Scott and Mader, 2014). In spite of these treatments, some children with PRS require a tracheostomy to bypass upper airway obstruction (Scott and Mader, 2014). Additionally, these infants may have substantial feeding difficulties (Reid et al., 2006). Feeding problems can result in failure to thrive (Printzlau and Andersen, 2004) and ultimately a nasal-gastric or gastrostomy tube for nutrition (Lidsky et al., 2008).

The complexity and intensity of these problems can have a devastating impact on the child, the parents and the entire family. Every aspect of families’ lives is changed. Even after transitioning home, breathing and feeding problems may cause substantial distress to both the involved infants and their families (Pope et al., 2005; Nidey et al., 2016). Parents often struggle to manage their own psychosocial and emotional responses to their child’s disorder (Pope et al., 2005; Nidey et al., 2016). The lived experience of these families as they cope has largely remained uncaptured, as previous research has principally focused on the avoidance of interventions such as gastrostomy tubes or tracheostomy (Scott and Mader, 2014; Almajed et al., 2017), rather than experiences of parents. These outcomes are easily obtainable retrospectively, but may not be the most important to children with PRS and their families. Qualitative methodologies aid in understanding and capturing the phenomenology of individuals living through specific situations. The results can include information about the details of a lived experience, meanings individuals construct from that experience, and important concepts and outcomes. These are useful in many contexts, including program implementation, patient-reported outcome development, and other instrument development. As new findings emerge, the evaluation can be redirected. In doing so, it provides emphasis on participants’ understanding, experiences, and views (Mays and Pope, 1995). Qualitative methodologies complement quantitative studies by clarifying methods of measurement, revealing areas not previously addressed, and suggesting possible hypotheses for future experimental studies.

This study used a series of focus groups and interviews to address the gap in our understanding of the global impact of PRS on families. It sought to understand 1) how specific symptoms impact parents, 2) how the child’s disease impacts parent emotional well-being, and 3) how healthcare structures and processes interact to improve or detract from care. A better understanding of these topics will be useful to both individual practitioners and health systems designers.

Methods:

Overview of the Study

The approach for conducting the focus groups followed the recommendations of the National Institutes of Health Patient-Reported Outcomes Measurement Information System (PROMIS) group, which has been useful to previous groups seeking to explore complex medical issues and develop population-specific instruments (Cella et al., 2007). Recommendations for conducting focus groups include the creation of a safe environment, semi-structured interview script, and strategies to enhance participation (Walsh et al., 2008). The study was approved by the University of Utah Institutional Review Board. All subjects signed written informed consent.

Participants and Recruitment

Children with PRS were identified by screening patients at a tertiary children’s hospital. Inclusion criteria included infant surgeries specific to PRS, including mandible distraction osteogenesis (MDO) and tongue lip adhesion. Additional screening included infants with diagnosis codes that may include PRS, including a diagnosis of micrognathia with or without a combination of cleft palate (CP) and craniofacial abnormality. This captured 269 patients age 5 and under with possible PRS; chart review was conducted on all diagnosed with both CP and micrognathia (n=38), all diagnosed with isolated micrognathia (n=43), and on 10% of those with isolated CP (n=188). This identified 27 patients with PRS in the target age range. Nearly all of the identified patients had both CP and micrognathia; 1 patient with isolated CP and 1 with isolated micrognathia were confirmed for PRS. All PRS families were contacted by mail and then by phone. Efforts were made to include geographically diverse families, as well as variety in disease severity and treatment types; these efforts included multiple phone contact attempts and scheduling of interviews specifically for them. Exclusion characteristics were the inability to speak English and a concomitant diagnosis of the child with PRS with a severe neurological comorbidity that would dominate the patient’s and parents’ experience.

Methods

Semi-structured interviews with individuals and groups (focus groups) were facilitated by one of two moderators trained in conducting focus groups. Four focus groups and four semi-structured interviews were conducted. Focus groups included 2–5 participants. The semi-structured interviews with a single participant targeted less-represented groups such as tracheostomy, rural residence, or those who spent a significant amount of time at a non-tertiary hospital after birth. Some were conducted in remote locations to decrease the barriers to enrollment for these important groups. Both the focus groups and the interviews followed similar procedures. After an introduction regarding the purpose of the study, an ice breaker conversation was held in which both the moderator and participants briefly introduced themselves and talked slightly about their families and/or lives (Krueger and Casey, 2000). The moderator then moved into the focus group script, which had been developed by the authors and run through with all collaborators to identify and fix problematic passages. It included questions to elicit information about parents’ experience starting with the impacted child’s birth and moving forward. The script was composed of open-ended questions and non-leading prompts; initial content included a priori knowledge of issues facing young children with PRS and their families. These included difficulties with breathing, feeding, and appearance. The script was iteratively modified to reflect emergent themes and clarify questions that had confused early groups. Each interview or focus group lasted approximately 75 minutes and was recorded and transcribed with identifying information removed.

Analysis

Thematic analysis of the transcripts sought to identify structures and identify concepts arising during the interviews, establishing a framework that helps relay the ideas parents discussed. This was accomplished using an iterative method which combined open coding, during which segments of text were named, described, or classified, and axial coding, which involved relating codes to each other. Concepts and themes were identified and then refined into constructs and sub-constructs. The approach used an inductive approach, a modified version of grounded theory, with the goal of identifying emergent constructs, latent relationships between constructs, and patterns of meaning (Corbin and Strauss, 2008). Two of the authors independently reviewed the text initially, identifying key concepts using “pre-codes.” The pre-codes were identified and developed through extensive discussion until agreement was achieved on constructs from which to build a coding scheme. The constructs and their associated quotations were again reviewed and consensus sought to validate the emergent themes (Patton, 2002). Final qualitative coding was conducted by the Qualitative Research Core at the University of Utah using Atlas.ti 8 based on the authors’ coding scheme (Atlas.ti, 2017). Interviews were conducted until thematic saturation was achieved, with no new themes emerging. Some codes overlapped; for example, the code “Negative emotional response” could include content also coded as “Family stress” or “Social isolation.”

Code occurrence and distribution across focus groups and participants was tabulated and analyzed (Figure 1).

Figure 1:

Code Occurrence by Participant. Passages could be coded with multiple codes

Results

Forty-six families of a child with PRS were approached by mail and phone. Of this group, 16 custodial parents of 13 impacted children from 11 families agreed to participate (Table 1). The majority of parents were mothers (69%); in five cases, the associated father also participated. Three of these children were siblings with syndromic PRS ranging from 10 to 45 months old, all with tracheostomies. Children with PRS had experienced a variety of treatments, either alone or in combination. These included prone positioning only (8%), MDO (85%), tracheostomy (23%), nasal-pharyngeal airway (31%), gastrostomy tube (54%), and nasogastric tube (77%). Parents’ ages ranged from 24 to 44; most (9) were employed, while 7 were currently not working outside the home. All participating parents were currently married with between one and five children.

Table 1:

Characteristics of Children and Families

Characteristic	Participating Parents (n=16)
Age in Years – × +/−sd	33.5 +/− 6.8
Gender: Female – n(%)	11 (69)
Employed – n(%)	9 (60)
Married – n(%)	16 (100)
Hours from Tertiary Hospitala– mean [Range]	2.4 [0 – 9]
Family Sizea– mean number children [Range]	2.5 [1 – 5]
Characteristic	Children with PRS (n=13)
Age in months – × +/−sd	25 +/− 17.5
Children in Family – × +/−sd	2.5 +/− 1.3
Gender: Female – n(%)	9 (64)
Race: White – n(%)	13 (100)
Syndromic PRS – n(%)	5 (38)
Living Environmenta– n(%)
Urban	9 (81)
>2.5 hours from tertiary children’s hospital	4 (36)
Insurancea – Private – n(%)	8 (62)
Treatmentb – n(%)
Gastrostomy Tube	7 (54)
Mandible Distraction Osteogenesis	11 (85)
Nasal Trumpet/Nasal-pharyngeal Airway	5 (38)
Nasal-Gastric Tube	10 (77)
Prone Positioning (no breathing intervention)	1 (8)
Tracheostomy	3 (23)

Abbreviations: IQR, interquartile range; PRS, Pierre Robin Sequence; SD, standard deviation.

^aAnalyzed in families, n = 11.

^bTreatments are not mutually exclusive.

The final coding schema and analysis revealed 17 codes (Table 2), each comprised of between one and five constructs and between five and 27 sub-constructs. Constructs consisted of broad categories within each code, with sub-constructs consisting of more granular distinctions within the constructs. An example of this process can be illustrated by the code “Coping and Getting Adjusted,” which contains 3 constructs, one of which is, “Togetherness/Adjusting as a family,” which contains the sub-construct “Shielding children.” 355 pages (483 recorded minutes) of transcripts contained 445 passages in which codes were identified 603 times; some passages contained multiple codes. The most heavily utilized codes were “Coping and getting adjusted” (12% of coded passages), “Negative emotional response” (11%), and “Feeding problems” (9%).

Table 2:

Codes and Representative Quotations

Codes and Constructs	Code Definition	Representative Quotations
The physical symptoms are overwhelmingly complex and always evolving
Breathing Problems	Description of a breathing problem/episode, parents’ emotional response, and/or the ways in which they solved or addressed the problem	“She was breathing like a runner…She was really struggling to breathe”
Complexity of Medical Problems	Parents’ struggle to understand the complexity of medical problems; disjointed issues associated with PRS; complexity of providing home care; uncertainty/confusion	“There’s a lot they may have told us, but a lot of times…sometimes it’s a lot of information all at once.”
Feeding Problems	Issues of feeding, sucking, swallowing, aspiration, feeding tubes, and using bottles	“She wretches and coughs and … She just stops. She just completely stops and you can just see she is really struggling with what you’re giving her”
Growth & Development Problems	Growth, weight gain issues, or failure to thrive	“She’s working a lot harder to breathe, which is why she’s burning all of her calories”
The expected newborn experience was lost and families are left isolated
Loss or Grieving of Normal Bonding & Childhood	Concern that normal attachment/connection to newborn might be at risk. Guilt about not being a good parent and comparisons to ‘normal’ family life. Loss of normal sibling bonding.	“I had a total breakdown, why did God take this (nursing) away from me.”
Negative Emotional Response	Confusion, anxiety, anger, frustration, worry, concern, terror, guilt, shame; strong statement of negative emotion	“I was very afraid. I was afraid to sleep in her presence I was afraid of everything and it took a long while to listen to -- listen to an obstructed airway”
Social Isolation	Limited or ambivalent social support. Being all alone; family and friends being too nervous to help; lack of community or church support. Family/friends try to provide support, but it is ultimately inadequate	“Everybody was nice and brought us food and all that stuff, but when he was out of the hospital, everybody kind of just disappeared.”
The stress and burden of caring for the new child transformed family life
Family stress	Stressors on immediate family, family dynamics, and relationships	“I wasn’t sleeping. We were just surviving.” “I was so stressed, I got shingles”
Financial Burden of treatment or care	Descriptions of the cost and expense, including insurance and burdens on time.	“I would say the finances is important…it is huge and it impacts your home life”
The extreme dependence on healthcare providers creates vulnerability and helplessness
Care Coordination and Communication	Uncoordinated treatment; parents have to carry the burden of communication between providers; information gets dropped or is in error; Medical Home/Center of Care. Includes longitudinal communication between providers.	“He may be your pediatrician, he’s getting all this information sent to him from the swallow studies and stuff, but we never seem to see him because we can’t get an appointment with him”
Communication and Interaction Problems	Communication problem between providers and families. Inadequate information or communication; delay in diagnosis and unaddressed concerns; conflicting information from multiple or same provider. Lack of trust.	“When they sit there and they talk to you like you didn’t try your best or you’re obviously not trying your best, you don’t want to work with that doctor. You don’t want to. You just -- you want to kill them”
Positive Relationship with Provider and Health Care	Times when providers or health care system satisfied families’ needs or provided excellent care; trust and confidence in providers	“She’s getting great care and he consults with our other team members, doctors”
Surgical and procedural interventions	Experiences associated with surgeries, procedures or other treatments	“Our Franken baby, that’s what we called her Franken baby with all the things sticking out.”
New psychological growth occurs as parents acquire competence and a new normal emerges
Coping and Getting Adjusted	Adjusting to a new normal; efforts to maintain control over the environment; letting go of control; trusting the system; organizing family support; managing, teaching, sorting, controlling family dynamics/other children/extended family	“You adjust to it and what you can handle becomes greater and for us we found that just things happened one at a time”
Positive Emotional Response	Gratitude, calmness, less anxiety, relief, appreciation, satisfaction	“we’ve tackled this and this was hard and she’s a fighter and we can do -- it showed me like how strong she really is”
Self-Efficacy or Empowerment	Gaining skills, empowerment, and self-assurance in caring for child; growing efficacy or competence; able to initiate treatments and intervention with assurance. Ability to take charge and actively advocate for their child.	“We took control of it. When options weren’t presented we decided to come to make options.”
Social Support	Friends, family, community provide instrumental support (e.g. money, resources, advice) and emotional support	“Our family has wanted to like learn to take care of her to support us and to help us”

Abbreviation: PRS, Pierre Robin Sequence.

Thematic Summaries

During the thematic analysis, codes were grouped into five themes:

• The physical symptoms are overwhelmingly complex and always evolving;

• The expected newborn experience was lost and parents are left feeling isolated;

• The stress and burden of caring for the new child transformed family life;

• The extreme dependence on healthcare providers creates vulnerability and helplessness; and New psychological and technical growth occurs as parents acquire competence and a new normal emerges.

Table 2 lists themes, their definitions, and the codes within each. Following are summaries of the findings for each theme, including relevant quotations that illuminate core concepts identified in the qualitative analysis.

THEME 1: The physical symptoms are overwhelmingly complex and always evolving.

Families described multiple, persistent, and interacting symptoms. Early in infancy, the symptoms appeared random and disconnected, but as children got older, parents began to see connections. Breathing and eating difficulties were the most vivid and salient in infants. As children grew, increasingly complex medical issues and care added to parents’ difficulty and confusion.

Parents had intense memories of their children’s breathing problems, frequently accompanied by significant distress, fear, and confusion. As they talked, they mimicked specific sounds and described babies turning purple, blue, or ashen, and struggling to breathe.

“It was the most horrible, horrific sound, like when you first heard it. You thought for sure that she was going to be blue or something and … she had this horrible expression on her face… it just always sounded very tight in her throat and just that she was trying to get stuff up or that she would choke and we never got a good explanation as to what it was.”

A sense of helplessness was pervasive as parents tried to support their children’s breathing with insufficient interventions.

“That’s what was given to us when we got home. We had the blow-by oxygen, which didn’t help anything ‘cause her airway would shut off, would just obstruct, there wasn’t air so it wouldn’t make a difference and we were told to bag her. We didn’t have the oximeter, which we had at the NICU, we were so naïve.”

Breathing issues were often accompanied by feeding problems. Parents described children’s difficulty balancing swallowing with breathing because of the tongue obstruction.

“We had to hold him like a certain way to feed him, you know, to keep his airway open and… sucks while [he] breathes, like that’s what a baby has to learn and he struggled with that, the breathing thing and so he would just choke.”

Episodes of emotional trauma were punctuated by periods of grueling activity; the necessary technological and logistic arrangements to keep children breathing and eating were cumbersome and exhausting.

“They’re supposed to be fed every two to three hours, so then I’d have to feed her and you’re running the pump and then I’d have to try and pump myself, so I would sit there for another half an hour, 45 minutes trying to do a double-pump at the same time, and then it’s…but it also took time to clean out the pump. You had to run the pump and clean it out and then I had to do my pump and clean out my pump and then it was almost time, I only had about a half an hour, 45 minutes before it’s, we have to start this all over again.”

THEME 2: The expected newborn experience was lost and families are left isolated

Parents’ early responses to their children’s PRS was often sorrow and loss for the infant experience they had expected. Parents talked about their children’s newborn period being “stolen” by medical procedures and anxiety. One mother talked about her hesitancy to allow herself to fully bond with her daughter:

“You just worry, should I get all super-attached and then feel the pain of losing [her]… It’s something I don’t really talk about and something that I think I’ve only ever voiced to my husband, just because, you know, she’s your baby and, of course, like it would have broken my heart no matter what would have happened at that point, but it’s almost like I felt like I was kind of protecting myself a little.”

This period often included experiences that caused lasting trauma to families, such as during episodes of oxygen desaturation or difficulty breathing. Even smaller struggles sometimes loomed large; several mothers spoke of realizing they would be unable to nurse their infants as a “total breakdown.” Compounding the difficulty of this period was the profound isolation that parents described as family and friends seemed to distance themselves. The demands of their children often kept them at home, and even when they ventured out, they found difficulty communicating with the people around them. Extended family were often unwilling to fully engage in the infant’s care out of anxiety or lack of knowledge.

“Her mom… she wanted nothing…not nothing to do with the baby - she loved the baby, she was buying things for the baby; she did not want to touch the baby. She did not want to hold the baby. She was just, like, oh, my gosh, I’m going to break her, I’m going to kill her, I’m not going to touch her.”

THEME 3: The stress and burden of caring for the new child transformed family life

The demands of caring for an infant with PRS frequently put family resources – time, attention, finances – under extreme pressure. This began during extended hospitalizations, when parents tried to balance the needs of their infants with their responsibilities at work and home.

“It was just stressful because we were just like split. We switched off nights sleeping here, so we would like pass each other, you know, in the hospital.”

Parents worried that they were neglecting their older children. Teenagers often had emotional difficulty with their sibling’s medical procedures and issues, while younger siblings generally took the tubes and monitors in stride.

Once babies were home, new stressors replaced or augmented those existing during hospitalization. These stresses were persistent as families experienced the strain of adding a medically-complicated infant to an already busy household.

“It’s what you do, you don’t know and once you get doing it, it’s all you know… that’s [why] our house looks the way it does or why I’m fat. You know, I’m not exercising at all, that’s why, I’m running on 17 Dr. Peppers a day and a couple of Red Bulls and I’m not eating much because I’m getting the kids fed and how you do it. You don’t have a choice, this is what you do.”

Adding to this strain were the inevitable and often chronic impacts an infant with PRS had on family finances due to both lost wages and expensive copayments.

“We sold a truck, we sold a four-wheeler, it’s expensive and this was the first year we were like, if he needs something done this year, we could really use some help because … we’re the people that just don’t qualify and we went to Social Security and they honestly said if you were divorced, you would get everything. And the guy wasn’t saying it to be rude but he was like desperate people do desperate things.”

THEME 4: The extreme dependence on healthcare providers creates vulnerability and helplessness.

Parents reported a tension between extreme need for assistance from their children’s providers and a sense of abandonment by the healthcare system. This frequently began early with feeling ignored by providers’ initial dismissal of their concerns about their babies’ appearance or symptoms.

“When she was first born…her lower jaw was smaller and so I’m like she has a little chin…her chin is just small and I had talked to the doctors and they’re like, oh, yeah, some kids are like that, some kids have a small chin and some kids have a bigger chin.”

In the subsequent hours and days, the frequent airway and feeding crises led parents to look to providers with a sense of desperation for a diagnosis and a plan.

“Honestly, we were so ready for a solution because we had gone through … Is it this, is it this and we had all that scare of maybe she’s just disabled and she’ll never be able… we went through all of that, [so] when the ENT doctor talked about the surgery we were like, there it is, that’s what she needs, let’s do it.”

At other times, parents felt abandoned or set adrift by providers. Parents reported distress from provider absence, due to geographical isolation, inaccessibility, inattention, or poor coordination of care. They reported frustration when they were unheard or “railroaded” into decisions. Conversely, they felt lost in a maze of decisions when providers gave insufficient guidance.

“It was a little frustrating just because -- because he kind of lays-out options. Well, we can wait and watch her grow, we can try a trach, we can do a lip-tongue adhesion, we can do this and I know he’s frustrated by her case, but at the same time we walked out of our appointment and was, okay, what do we do now? Like do we see you next like there was no next goal or next kind of point for reference.”

One father described what he would have liked to have known before his daughter’s distraction surgery:

“She will have the respiratory sewn to her nose, she will be as white as a sheet and puffy and not moving and… And look dead, sorry, look dead, you know. You probably will never be prepared for that, but I think they do need to be very upfront, you can’t sugarcoat that.”

Parents also reported positive relationships with the healthcare system. Because they often became reliant and dependent on these connections, they were very grateful when receiving access to someone who could provide information and reassurance.

“His doctor is so amazing, explained everything to us in detail and then his dad’s grandma came in and was asking five million questions and he sat down with her for like four hours, okay, this is what this means and this is what we’re going to do and depending on how his parents feel we’re going to do this or we’re going to do this just depending, just every question she threw out he answered no problem.”

THEME 5: New psychological and technical growth occurs as parents acquire competence and a new normal emerges.

Parents’ ability to rise to the challenge of caring for these medically complex children included a combination of increased skills and emotional growth. As they coped, they gained confidence in their abilities to care for their children, respond to emergencies, and move towards normalcy.

“There was once in Costco where she had a seizures and lost her airway and we just put a nasal trumpet… it was on a Saturday, so it was packed, crowded, but we just kind of pulled over our cart and just kind of did our thing and, yeah, it’s scary the first time something like that happens, but then it just becomes… you develop kind of coping and I’m not afraid to take her anywhere now.”

Formal knowledge gained from the medical system was frequently augmented by suggestions from other families with similar conditions. Families discussed the value of these interactions with other parents, and their longing for more of these relationships.

“I talked to that mother and asked if I could talk to her or come see her baby and I thought that was really nice just to be able to talk with someone that was kind of going through the same thing and they were just a little bit ahead of you and I was able to kind of see and ask her questions about, are you glad you did this?”

Parents became better advocates for their children with healthcare providers, coming from a place of increasing knowledge and experience. One father described pushing his daughter’s physicians for a solution to her unstable airway:

“You guys are going to figure this out and we’re going to take her home with an airway. And so it was a different experience for us. We were more secure in who we were and we knew what she had, we were more confident for sure.”

As this knowledge and confidence grew, parents described an increased acceptance of their children’s condition and their family life. Parents grew to see their children and their families’ challenges as being part of the range of normal.

“You kind of get past that dark spot of mourning or being upset and you can start talking to people and then you start realizing we’re all parents and we all worry.”

Parents talked about creating meaning from their families’ challenges and feeling that the medical difficulties they had experienced had helped their own personalities develop in positive ways.

“You learn, it gives you a greater appreciation for hard things in life, and not even what you’re going through or medical things in general, but just life is hard and just I feel like I’ve become more empathetic and I like who I am more through the challenges I’ve been through with my baby… it’s made me a better person. We always try and look for the good parts to it, because there is so much sad and there is so much that’s hard and life-changing, but there is so much opportunity for growth and for good and for meeting wonderful people and you learn when you open up and you talk about it and you share more personal things about your life that it helps you, too, in seeing how much you’ve grown and how strong you really are and what you really can do.”

Distribution of code frequency among participants

Participating parents had a range of characteristics that potentially impacted their experiences, though core concepts arose consistently in all groups. Parents of younger children were often more focused on issues surrounding birth, the confusion associated with finding a diagnosis, and the extreme stress of bringing a medically fragile infant home. Parents of older children discussed PRS-adjacent medical issues, such as vision or hearing problems, and the financial impacts of PRS on their families as the children aged. Parents who are themselves younger may be less generally resilient than those who are older; they mentioned financial stress more frequently and had less discussion of family and social support.

Discussion

The primary goal of this project was to gain understanding of issues facing families of infants and young children with PRS. Our analysis revealed the consuming impact that the introduction of a child with PRS has in the lives of families. Bringing home a child with PRS impacts all aspects of these families’ lives (Burke and Alverson, 2010). Parents’ experiences were intense and easily recalled years later; their descriptions of this life-changing period were vivid, poignant, and powerful. We believe that the themes we identified from parent focus groups well describe this experience.

Parents reported extreme stress surrounding some of their children’s early physical symptoms, such as difficulties with breathing and feeding. This is reflected in our first theme. This finding conflicts with some previous work, including one small study investigating differences between patients and families with PRS (both with and without an underlying syndrome) and the Dutch norm population (Basart et al., 2017). They were able to identify few differences between these groups, but did find higher levels of parental distress among parents of syndromic PRS children compared to non-syndromic children. A similar study reported findings more aligned with ours: parents of children with PRS reported more physical and emotional symptoms than those reported in the general population (Dulfer et al., 2016). Researchers also found that parental perception of sleep apnea symptoms were generally aligned with objective measures (Dulfer et al., 2016).

A few studies examined the impact of specific interventions on children with PRS: one, examining tracheostomy use, found that impacted parents generally felt that their families’ expectations of the tracheostomy had been met, though most reported that it was a difficult experience (Demke et al., 2008). Authors suggested that improved pre-intervention counseling regarding the length of tracheostomy dependence and potential complications could lead to improved parent experience. The one set of parents in our study whose children required tracheostomies reported largely positive experiences, as their extreme anxiety regarding their children’s breathing was then relieved. Another study looked at change in several physical, mental, and emotional domains with MDO (Hong et al., 2012). Authors in this study found various levels of improvements in all examined domains, particularly that of physical function. This supports our observation that parent-reported symptoms improved with MDO surgery.

Our second and third themes relate to the isolation and grief felt by many parents in the newborn period and the degree that the addition of a PRS child changed family dynamics. Past research in medically complicated and fragile children and their families points to links between the severity of symptoms in the functional domains of breathing and feeding, as well as the disruptions of social, psychological, and parent/family well-being (Slade and Reisine, 2007; Sischo et al., 2017). Certain family characteristics (minority racial status and lack of private insurance) were associated with lower scores on several domains of instruments measuring family functioning (Sischo et al., 2017). We saw hints of this in our transcripts: parents reporting high levels of financial stress seemed to also have high levels of family stress. This is congruent with a Canadian study examining the impact of family and disease-related variables on caregivers of children with cerebral palsy (Raina et al., 2005). Researchers reported connections between higher levels of family functioning and increased parent well-being; they additionally found connections between caregiving demands and both physical and psychological health.

The fourth theme in our analysis reflected the intensity of the relationships parents developed with healthcare providers. Families repeatedly expressed their appreciation for times when they felt heard, both by their provider and by the larger health system. They stressed the importance of feeling that providers were both available and invested. They emphasized the significance of providers taking time to answer questions and listen to parental concerns and difficulties. Transcripts also revealed times when systems and providers failed to communicate in patient-centered ways. Instances of this from providers included rushing parents to decisions and disregarding parent concerns about serious symptoms. Providers seeking to avoid these missteps can learn from the developing field of Patient-Centered Care (PCC), which emphasizes the importance of strong physician-patient/family relationships, promotion of communication about “things that matter,” and facilitation of meaningful patient and family involvement in care decisions (Epstein and Street, 2011). Research has linked elements of Patient- and Family-Centered Care with improved outcomes and decreased stress for medically complicated children and parents (King, 1999; Srivastava et al., 2005).

On a system level, parents reported frustration when communication barriers and deficiencies led them to feel as though they were the sole coordinators of their child’s care. Parents sometimes felt that they were left rudder-less to navigate the transition from inpatient to outpatient. This highlights a need for improved care coordination in general, and in the transition from inpatient to home in particular. Best practices in the inpatient period include treatment by interdisciplinary teams who develop and maintain effective care plans, hospitalization goals, and discharge criteria (Percelay, 2003; Srivastava et al., 2005). Ideally, outpatient care is managed by a “medical home,” a construct defined by the American Academy of Pediatrics as medical care that is accessible, family centered, comprehensive, coordinated, continuous, compassionate, and culturally effective (Sia et al., 2004).

An important finding in our study was the degree to which parents experienced satisfaction and confidence growing in tandem with their increasing ability to care for their child. This echoes past research, which has reported an association between caregivers’ feelings of mastery over their caregiving situations and their psychological health (Raina et al., 2005). This highlights the importance of appropriate caregiver education. Parents in our study expressed appreciation for times when they were provided sufficient and well-structured education by their medical teams. Other parents highlighted areas where patient-centered education was needed. Several families discussed feeling overwhelmed by material that was given to them too quickly or in indigestible quantities. They emphasized the need for individualization in patient education; some families desired more immediate medical details, while others needed a big picture of how the condition might affect their child long-term. Health systems and teams should be sensitive to individual needs as they educate parents regarding their children’s diagnosis and treatment. One novel approach to the issue of education for the caregivers of medically complex children has included a “boot camp,” in which parents of children with recent tracheostomies went through a series of nine training sessions, each to be satisfactorily completed before the next was begun (Van Orne et al., 2018). After implementation, the study hospital found this program to be associated with decreased hospital lengths of stay, increased caregiver satisfaction, decreased caregiver stress, and overall reduced medical costs.

An important component of education and growing competence for the parents in our study were their associations with other impacted parents. Families commonly reported relying on other parents of children with PRS for both information and support. This was especially true for pragmatic and logistical issues that families encountered in caring for their children, and for reviews of doctors, therapists, and home health care providers. Providers and health systems could support this resource by facilitating and promoting formal structures for peer-to-peer networks, mentorships, and support groups. A set of such resources was established virtually by a Spanish hospital, providing access to patient education and forums established for physician-user and user-user communication (Grau et al., 2013). The resulting network proved enormously valuable to both users and researchers. These types of organizations and partnerships provide opportunity for both improved clinical care and future patient centered research. Among the strengths present in this study is its novelty in engaging parents of PRS infants directly regarding their families’ experiences. Additional strengths included the diversity of experiences represented by the families involved in the project. Our sample included families from urban and rural areas, with varying access to specialized care centers. This enabled us to capture multiple treatment approaches, including positioning, nasal trumpet, MDO, and tracheotomy. The children in our sample also included both syndromic and isolated PRS and represented a range of severity. Our sample of parents included both genders and a range of ages and family sizes, structures, and income levels. These characteristics increased the generalizability of the themes we identified.

The limitations of this work included a preponderance of children treated with MDO. This is due to its prevalence in the region where most of the families had received treatment. To help minimize the over-emphasis on MDO treatment, other treatment groups were included with individual interviews. Treatment in the region shifted away from tongue-lip adhesion more than 4 years before the onset of this study; we were unable to identify any eligible patients who had received this treatment. There was also a relative lack of racial diversity, reflecting our region’s population, and all parents in our sample were married. These deficits may limit generalizability. A final limitation is inherent to the open-ended, discussion-based format used: variations in group dynamics may lead to some concepts receiving greater or lesser exposure than the experiences of the involved parents would otherwise justify. Because of this, frequency of code occurrence should only cautiously be assumed to have a linear relationship with importance of that code.

Finally, a few families in our cohort had extremely dramatic experiences, including death of previous children and children experiencing hypoxic brain injury from airway collapse. These experiences tended to color the focus groups in which the impacted families participated. To prevent these families’ unique experiences from unduly influencing the themes we identified, caution was used in interpreting and generalizing quotes from these families. The moderator also helped to redirect when these experiences were dominating a discussion. Additionally, the family containing multiple children with tracheostomies was interviewed separately, and care was taken to direct questions towards experiences with their first impacted child, to increase comparability with other first-time PRS parents. Because the inclusion of this family skewed treatment statistics, we limited the quotes used from this family’s experiences and used caution in interpreting hypothesized connections between treatment and parental experience. We nonetheless felt that understanding the experience of parents of children with syndromic PRS was important.

Conclusion

The themes and concepts identified in this project have the potential to influence future medical caregiving and research for children with PRS. Parents told stories of struggle, adjustment, learning, and transformation. Those parents emerging successfully into a “new normal” demonstrated high levels of coping skills and resiliency. Experiences, descriptions, and language revealed in our focus group transcripts will aid future research and care for this population.