Journal of Genetic Counseling

, Volume 24, Issue 2, pp 325–335 | Cite as

“Is it Going to Hurt?”: The Impact of the Diagnostic Odyssey on Children and Their Families

  • Nikkola Carmichael
  • Judith Tsipis
  • Gail Windmueller
  • Leslie Mandel
  • Elicia Estrella
Original Research

Abstract

The pediatric diagnostic odyssey is a period of uncertainty and emotional turmoil for families, often characterized by multiple minor medical procedures (such as venipuncture) that children may find distressing. Interventions to reduce distress are rarely offered, despite evidence that this is crucial both for avoiding anticipatory anxiety before future procedures and for improving healthcare compliance in adulthood. We interviewed ten mothers of children with neuromuscular disorders, asking about their perceptions of their child’s experiences with different medical procedures, the emotional impact of the diagnostic odyssey, implications of obtaining a diagnosis, and interactions with healthcare providers. We coded interviews in ATLAS.ti (version 7.0) based on a priori and emergent themes, and analyzed them based on the principles of interpretive description. We found that predicting and assessing children’s reactions to procedures is challenging; parents reported non-invasive procedures such as x-rays were distressing for some children, and that providers did not detect subtle indicators of distress. Parents valued obtaining a diagnosis because it validated their concerns, enabled planning for the child’s future healthcare needs, and allowed access to established support networks. This study suggests that healthcare providers can improve the experience of the diagnostic odyssey by validating family concerns and connecting them to support services that are available without a diagnosis.

Keywords

Genetic counseling Diagnostic odyssey Uncertainty Neuromuscular disorder Anticipatory anxiety Distress Medical procedures Venipuncture 

Introduction

Until about 1970, prevailing opinion held that children did not experience pain as strongly as adults did. Consequently, little attempt was made to alleviate their distress during medical procedures (Baker and Wong 1987; McCaffery 1977). Since that time, numerous approaches to reduce child distress have been developed. These include therapeutic interventions, such as informing the child of what will occur, how it will feel, and encouraging the parent to participate in supporting and distracting the child (Cohen 2008), and pharmaceutical interventions, such as EMLA (Eulectic Mixture of Local Anesthetic) cream. This topical analgesic has been shown to significantly reduce the pain of venipuncture, especially when used in combination with therapeutic interventions like those described above (Kolk et al. 2000). These methods are most often reserved for children undergoing highly invasive procedures, such as surgery or lumbar puncture. (Jay et al. 1985; Katz et al. 1980; Stephens et al. 1999). However, studies by Fradet et al. (1990) and Humphrey et al. (1992) show that many children find even “minor” procedures (such as venipuncture) to be highly distressing.

Children who are diagnosed with, or suspected to have, a neuromuscular disorder often experience numerous medical procedures. The procedures may include blood tests, x-rays, echocardiograms, electrocardiograms (EKG), electromyograms (EMG), and muscle biopsy, among others. The procedures involved throughout the diagnostic odyssey and during follow-up care may be painful, uncomfortable, or frightening. Even procedures that the child has previously tolerated may become distressing after a negative experience.

Reducing distress is crucial to avoiding an increase in anticipatory anxiety before subsequent procedures, which can heighten the perception of pain and contribute to an escalating cycle of fear and distress surrounding any future medical encounters (Kennedy et al. 2008). However, pharmaceutical and therapeutic interventions are generally offered only after a child has already exhibited procedural distress. Weisman et al. (1998) suggest that this approach does not best serve the patient: “Once a child has a negative initial experience there is a change in the mental ‘set point’ of his or her interpretation of that noxious stimulus… The data suggest that, if analgesics are used, it is critically important that they be effective the first time, especially for younger children.”

Neglecting to address anticipatory anxiety has both short- and long-term implications for the health care of a child (Fig. 1). Performing medical procedures on children who are distressed and resistant is more time-consuming than performing them on cooperative patients; it is also more upsetting for the child, the parent, and the healthcare professional. Children who have negative experiences are more likely to grow up into adolescents and adults who avoid health care or are noncompliant (Ayers et al. 2011; Jones et al. 2008). Because individuals with neuromuscular disorders require lifelong medical care to maintain optimal health, improving childhood experiences can have significant long-term effects.
Fig. 1

Impact of distressing medical procedures on children. Experiencing distress during a medical procedure can lead to anticipatory anxiety before the next procedure. Children who are already anxious have a heightened perception of pain, which can lead to an escalation of distress and a cycle of increasing anxiety and distress with each subsequent occurrence. Long term, children who have more negative experiences with medical procedures are more likely to grow up into adults who avoid healthcare. (Ayers, et al. 2011; Jones, et al. 2008; Kennedy, et al. 2008; Weisman, et al. 1998)

The “diagnostic odyssey” comprises the time between when a parent or provider first becomes concerned about a child’s development and when a diagnosis is eventually reached. This period is characterized by uncertainty and emotional distress for families (Jessop and Stein 1985; Lenhard et al. 2005; Lewis et al. 2010; Lipinski et al. 2006; Madeo et al. 2012; Stewart and Mishel 2000). While uncertainty is a “defining experience of serious childhood illness regardless of the specific illness characteristics” (Stewart and Mishel 2000), the lack of a label for the child’s condition during the diagnostic odyssey limits the support services available to families (Makela et al. 2009; Rosenthal et al. 2001). For children with neuromuscular disorders, the diagnostic odyssey may last for months or years.

While existing literature addresses various aspects of the diagnostic odyssey, such as the reducing the impact of medical procedures on children (Cohen 2008; Jay et al. 1985; Katz et al. 1980; Kolk et al. 2000; Stephens et al. 1999), the effect of medical uncertainty on parents (Madeo et al. 2012; Stewart and Mishel 2000), and the benefits to families of obtaining a diagnosis (Lenhard et al. 2005; Makela et al. 2009; Rosenthal et al. 2001), limited literature addresses the diagnostic odyssey in its entirety. One UK-based study, Lewis et al. (2010), interviewed parents about the experience of seeking a diagnosis, but the authors focused primarily on the parents’ emotional journey and the need for support services. This exploratory study fills a gap in the literature by investigating the parent’s perspective of the diagnostic odyssey as a whole. We conducted in-depth interviews to capture parents’ feelings about the impact of medical procedures on the child, the emotional strain placed on the family, and the implications of obtaining a diagnosis.

Purpose of the Present Study

In this qualitative study, we documented parental perceptions of their child’s experience undergoing multiple medical procedures during a diagnostic odyssey. We interviewed parents of children with neuromuscular disorders to elicit information regarding the child’s experiences with different medical procedures and the benefits to the parent and child of obtaining a diagnosis. Our purpose was to identify ways to improve patient-provider relationships and thereby provide better healthcare to pediatric patients and their families.

Methods

This study was designed based on the principles of interpretive description, a methodology that uses small-scale qualitative investigations of patient experiences to generate results that inform clinical understanding (Thorne et al. 1997; Thorne et al. 2004).

Participant Protection and Recruitment

After obtaining Institutional Review Board approval (through Brandeis University and Boston Children’s Hospital), we recruited participants for this study through the Harvard Neuromuscular Disease Project (HNDP) at Boston Children’s Hospital. Potential participants were parents who had previously agreed to be contacted for future research projects through the HNDP. Subject inclusion criteria were as follows: 18 years or older, fluent in English, caring for a child with a diagnosed or suspected neuromuscular disorder, and being the primary caregiver for that child during medical appointments. We obtained informed consent for all subjects.

Within this population, we employed a purposive sampling strategy to recruit ten participants to interview, a sample size anticipated to provide the optimal balance between “breadth and depth” (Guest et al. 2006; Patton 1990). We sought parents of children diagnosed with less common forms of muscular dystrophy within the last five years, after having endured an extended diagnostic odyssey characterized by multiple medical procedures performed between the ages of three and twelve years of age. Given the rarity of neuromuscular disorders as a whole, we did not limit our selection to a homogenous sample that fulfilled all criteria, but selected “information-rich cases” from whom we could learn a great deal about the parent’s perception of the diagnostic odyssey (Patton 1990).

A genetic counselor employed by the HNDP mailed the recruitment letter to potential study participants along with an opt-out card. The interviewer telephoned selected individuals who did not opt out. Each participant filled out a brief questionnaire to provide background information, signed an informed consent document prior to the telephone interview, and received a $25 gift certificate in appreciation of his or her contribution.

Instrumentation

Based on previous literature regarding children’s experiences with medical procedures (especially the questions designed by Ayers et al. to assess needle-related distress (2011)), we designed a semi-structured interview guide with open-ended questions (Table 1). Each interview focused on the child’s reaction to medical appointments and procedures, the specific events of the diagnostic odyssey, and actions by healthcare providers that positively or negative affected the family. Per Taylor-Powell’s (1996) suggestion to pilot test with professional colleagues and/or a small sample similar to the population of interest, we piloted the interview questions with pediatric healthcare professionals and parents of children whose medical conditions necessitated multiple medical procedures (n = 5). We incorporated suggestions and changes as appropriate.
Table 1

Interview guide and sample questions

Introduction

Background

Tell me about your family (how many children do you have, etc.) Tell me about your affected child. What are his/her specific health challenges just now? What is his/her personality?

Diagnostic odyssey overview

Thinking back to when you first became concerned about your child’s health, what first caught your attention? Who was the first medical professional you went to with your concerns? Please walk me through what happened after that.

Child’s reaction to medical appointments

How do you prepare your child for medical appointments? What is your child’s demeanor before, during, and after the appointment? How do you know if your child is anxious or distressed? What do you do to help calm your child?

Overview of the procedures experienced by the child

Reviewing the questionnaire and asking questions

Procedure responses: negative (most difficult or stressful)

Of these procedures, is there one that was especially difficult or distressing for your child? Walk me through what happened (including where the procedure was performed and who was present). Why do you think this procedure was so difficult or distressing? How do you think your child would describe this procedure?

Procedure responses: positive (least difficult or stressful)

Of these procedures, is there one that was much easier for your child than you expected it to be? Walk me through what happened (including where the procedure was performed and who was present). Why do you think that this procedure was so positive? How do you think your child would describe this procedure?

Exploring a frequent procedure (selected from the questionnaire, usually venipuncture)

I would like to hear more about how your child reacts during ______ . Think back to when your child first experienced this procedure. Walk me through what happened. [Repeat the question for a later age, and then a recent experience]. How has his/her reaction changed over time? Was there one time when this procedure was especially difficult? What was different? Was there a time when the procedure was less difficult? What was different?

Wrapping up

Knowing what you know now, is there anything you would have done differently? What advice would you give to another parent starting this journey? What would you like healthcare professionals to know about your experience?

Procedures

One investigator interviewed all participants using the same interview guide; however, the amount of time spent on each topic and the specific questions asked were dependent on the experiences of the individual participant. The interviewer employed a collaborative interviewing method, in which the “interview is conducted more as a conversation between two equals than as a distinctly hierarchical, question and answer exchange” (Ellis and Berger 2001), with the goal of creating a more relaxed discussion and facilitating the participants’ comfort in sharing sensitive information. Interviews ranged from 35 to 75 minutes.

The interviewer digitally recorded all interviews, each of which was then transcribed by a professional transcriptionist. All documents containing identifying information were stored on a password-protected laptop.

Data Analysis

We placed our data into ATLAS.ti (version 7.0), a software package for qualitative analysis of textual data (Friese 2011). We analyzed interviews by assigning codes to sections of texts, phrases, or paragraphs based on a priori (from the interview guide) and emergent themes. As themes emerged, codes were merged or discarded, winnowing the original 125 codes down to 41 grouped into eight code “families.” These codes could then be analyzed in a “quasi-quantitative way” to identify those that appeared across multiple interviews and compare them for commonalities or differences (Coffey 1996). Five code families provided the most meaningful data for this study: the types of procedures the child experienced, positive or negative experiences of those procedures, the diagnostic odyssey, provider interactions, and advice to other parents or healthcare providers.

Results

The participants in the study were all mothers; five of their affected children were girls and five were boys. One mother had two children with the same disorder, but the interview focused only on the older child. All of the families had more than one child. Demographics and diagnoses for participants’ children are listed in Table 2.
Table 2

Demographics of participant’s children

Gender

Current age

Diagnosis

Age at diagnosis

F

5–9 years

Congenital myasthenic syndrome

0–1 year

M

5–9 years

Duchenne muscular dystrophy

1–4 years

M

10–14 years

Duchenne muscular dystrophy

1–4 years

M

10–14 years

Duchenne muscular dystrophy

1–4 years

F

10–14 years

Congenital muscular dystrophy

1–4 years

M

10–14 years

Unknown myopathy

Undiagnosed

M

10–14 years

Unknown neuropathy

Undiagnosed

F

15 + years

Limb-girdle muscular dystrophy (Type 2)

4 + years

F

15 + years

Facioscapulohumeral muscular dystrophy

4 + years

F

15 + years

Bethlem myopathy

4 + years

Two main themes emerged from the interviews: the impact of the procedures on the child, and the value to families of obtaining a diagnosis.

Theme: Medical Procedures

Before the interview, participants filled out a brief questionnaire about the types of medical procedures their child had experienced. A large portion of the interview focused on this questionnaire and on obtaining additional information about how the child reacted to each procedure. Parents were also asked questions about the most distressing and least distressing procedures that their child experienced, and if or how the child’s reaction to a frequent procedure changed over time. The interviewer elicited information about three subthemes: procedures that were most distressing for children, actions by healthcare providers or parents that reduced child distress, and manifestations of distress by children in relation to a procedure.

Distressing Procedures

The interviewer reviewed with each participant the procedures she reported that the child had experienced, and then asked her to elaborate about ones that were especially distressing for the child (Fig. 2). Highly invasive procedures correlated with increased likelihood of child distress. The most valuable data for this study emerged from the responses regarding surgery/muscle biopsy, blood tests, IV, and x-ray.
Fig. 2

Proportion of children who were distressed by each type of medical procedure

Surgery and muscle biopsies were performed under sedation, and while a majority of parents reported that these were distressing, they felt that healthcare providers prepared them for what to expect and their children received adequate pain management. However, for procedures considered less invasive, such as blood tests and x-rays, little preparation was offered:

“When she went for surgery and she went for her biopsy and those things were just done wonderfully by the hospitals. She was distracted. We were prepared. But it was like for the blood work and the tests that was pretty much up to me to prepare, right?”

Participants whose children were distressed by blood tests described them as “freaking out” or “horrified.” For some of these children, blood tests were always difficult, and for others, a single difficult experience triggered the reaction, such as when a phlebotomist attempted repeatedly to locate a vein. Similar experiences were reported for the placement of an IV. Only one parent reported that her child was regularly offered EMLA cream (a topical analgesic) before venipuncture.

Imaging, ultrasound, and EKG were upsetting to three children; explanations included fear of the equipment, heightened anxiety due to the emotional impact of the diagnostic odyssey, and, for one adolescent girl, discomfort having a male technician perform the procedure. Of the nine children who had had x-rays, three found them to be distressing at least once. Children with neuromuscular disorders, who are losing the ability to walk and to sit, have difficulty positioning themselves for this procedure. One parent said:

“The x-rays are actually really difficult, because he’s in a wheelchair so you’ve got to move him into another seat and you’ve got to get him to sit up…That’s hard for him to do, and he has to sit for a while. Those are hard, the chest x-rays.”

Another mother wished that she had been offered an aide to assist her in positioning her twelve-year-old for seated x-rays to evaluate him for scoliosis:

“The chair was so small and the way that his legs are, like I said, his knees are a bit contracted, he can’t sit straight. And I was trying to hold him at the same time, and it was just a matter of he was scared that he was going to fall down off the small chair.”

Positive Interventions

We asked participants to elaborate about procedures that were less distressing for their child than they had expected, and specifically about actions on the part of the parent or healthcare provider that improved the experience.

The most common techniques that parents used to help their child manage anxiety or fear related to medical procedures were distraction, providing the child with information about what would occur, and giving a reward after the procedure. For some procedures (e.g., surgery), the child was given medication to alleviate pain or reduce anxiety. Some parents brought a friend or a comfort object (such as a stuffed animal). Others gave the child some control over certain aspects of the procedure, such as whether to sit beside the mother or on her lap (Fig. 3).
Fig. 3

The number of parents who reported using each technique to manage their child’s distress during medical procedures. Many parents reported the use of more than one technique for a single procedure (for instance, distracting the child during the procedure, followed by a reward afterwards)

Other elements that affected the child’s level of distress included who was present in the procedure room and the mood of the adults. Children were more comfortable when a familiar provider performed the procedure: six mothers reported that her child liked returning to environments where the staff knew him or her, and that healthcare providers who were familiar with the child were better able to meet his or her needs. Participants also reported that the child was better able to tolerate procedures if the environment was less stressful. One parent described her child as “intimidated” by having too many people in the procedure room. Another parent described a distressing and ultimately unsuccessful attempt to place an IV for an MRI:

“It was the fact, I think, adults were trying to do something and … the adults were failing at it, which if you have small veins what can you do? … Part was the conversation in the room.”

Having even one calm person in the room eased the stress for parent and child, as described by the same participant about a different incident:

“[The nurse] was like an island of calm in the sea of all these people who were like stressed out and kind of getting really concerned… But he says, ‘There’s going to be about 20 doctors come in here. They’re going to be asking all kinds of questions… Just go with it.’ He was calming for all of us.”

Evaluating Child Distress

When asked how children manifested pre-procedural anxiety, parents described behaviors that included talking excessively, asking questions, making noises, yelling, crying, squirming, grimacing, sighing, and getting quiet. Five of the ten mothers reported that, while she knew her child was anxious, she did not believe that the healthcare providers were aware:

“I mean, he never seemed that anxious… In the waiting room he didn’t seem out of control or anything… I think it’s probably more subtle with him.”

One parent describes the pitch of her child’s voice changing:

“And the way she would say, ‘Oh, okay’ it would be a higher pitch kind of, like I could tell she’s saying it’s okay, but it’s probably not okay.”

Another also described a subdued reaction:

“She gets quiet, but… I could tell because I was her mom.”

While acknowledging the child’s distress, parents generally spoke with pride about how well their child coped with very challenging situations. Four parents remarked that this child was better able to handle medical procedures than his or her siblings would have been:

“So I think if this health issue had to happen to any one of my children, and I know this is going to sound horrible, I’m going to go to hell for this, but… I would definitely pick him. I don’t think any of the other ones would have been as strong as he was during this.”

Theme: Diagnostic Odyssey

The diagnostic odyssey section of the interview included questions about the period between when the parent or healthcare provider first became concerned about the child, through various medical appointments and procedures, until the time that a diagnosis was reached. Parents spoke about the procedures that their child experienced, the emotional impact on the family, and their interactions with healthcare providers. They also spoke about the reasons that obtaining a diagnosis was important to them. Many of their reasons echoed those of medical professionals: initiation of treatment, participation in clinical trials, and reproductive planning (Ciafaloni et al. 2009). However, three additional subthemes emerged that are uniquely parent-centric: a sense of validation for the parents (that their concerns were legitimate), the value of a prognosis in preparing themselves and their child for the future, and the ability to tap into established support networks.

Validation

Of the ten participants in this study, four remarked that obtaining a diagnosis gave them a sense of validation: they had suspected for some time that their child had a serious medical disorder, and the diagnosis finally labeled it. Many described having their concerns initially dismissed by healthcare providers, which increased their anxiety because they felt like the sole advocate for the child. One mother remembered, upon finally meeting the doctor who would diagnose her son:

“He listened to me, and that was key. That was huge. It was a huge relief to have someone actually listen.”

Another, upon receiving a diagnosis, recalled:

“To hear those words… that was a scary moment… But in a sense, and this is going to sound really bad … it was so confirming to me. I knew something wasn’t right.”

Children also benefited from having a diagnosis to explain their physical limitations. One mother recalled that the school gym teacher told her daughter, when she was struggling to keep up with the other children, that she should “get over it” and “rise to the occasion”; after being diagnosed, accommodations were made for the activities that she was physically unable to perform. Rather than being chastised for laziness, she was praised for her efforts.

Even when healthcare providers were unable to establish a diagnosis, parents appreciated those who did not give up searching:

“[The doctor] was pretty sure that [my child] was going to make some kind of medical magazine or book of some kind, because his case was just so rare… He was outreaching to other children’s hospitals to talk to their muscular doctor people.”

Prognosis

Having a diagnosis enabled physicians to provide parents with a prognosis, allowing them to plan for the future. One participant first became concerned about her child in preschool but waited almost 10 years for a definitive diagnosis:

“Since four years old we’ve really never known what to think. So, yeah it’s very stressful for the parent, especially because you don’t know what to plan for your child. You don’t know what to expect.”

Once they had obtained a diagnosis, parents were better able to access physical therapy, occupational therapy, and community-based programs that provided financial support to modify the child’s environment (e.g. for wheelchair accessibility). They were also able to prepare their child for the expected progression of the disease, as was the case for one mother of a boy with Duchenne muscular dystrophy:

“When it was the point for him to be in a wheelchair full-time I thought it was going to be worse, and he took it easier than what I did. He was really calm about the whole situation, because I was talking to him about it constantly; I mean age appropriate of course.”

When the diagnosis was better than feared, parents experienced a sense of relief:

“I think we were all just waiting for the diagnosis, and honestly I was glad it’s not a death sentence.”

Even for life-limiting conditions, having a diagnosis allowed parents to coordinate appropriate medical care and prepare their child:

“She also knows that on some issues she has the ultimate power. For example… she made it abundantly clear that she had no plans, no desire, no interest in being on a trach or a vent long-term.”

Support

Once a diagnosis was reached, parents were able to tap into established support networks. Four parents reported that their child participated in specialty camps and respite groups, where he or she could interact with other children with similar challenges. For very rare disorders, those with only a few diagnosed cases worldwide, parents connected through internet-based support groups to compare experiences and share information. One participant was grateful for the opportunity to become involved with the Muscular Dystrophy Association (MDA), despite the physician later changing her child’s diagnosis:

“We right away got involved with the MDA … We did a walk for him for the organization… And then when we got this dis-diagnosis, the un-diagnosis, I never regretted a moment doing that for MDA … It was an amazing, amazing time.”

Discussion

Families undergoing a diagnostic odyssey face a unique set of challenges. Parents are learning to care for a child with health issues while facing an uncertain prognosis. They lack access to many of the support services that become available once the child’s condition has a label. Against this backdrop of heightened emotional turmoil, they are observing and supporting their child through medical procedures that many be painful or frightening. In this study, we interviewed ten mothers of a child with a neuromuscular disorder to gather information about the diagnostic odyssey from the parental perspective. The results illustrate both the distress that even minor medical procedures can cause children, and the benefits to the family of obtaining a timely diagnosis as a result of those procedures.

Managing Child Distress during Medical Procedures

During a diagnostic odyssey, physicians order medical procedures to confirm or rule out diagnoses. Children in the study population had all undergone numerous medical procedures, ranging from highly invasive (such as lumbar punctures and EMG) to non-invasive (such as imaging and EKGs).

Highly invasive procedures were distressing for the few children who experienced them. Parents generally felt that the efforts on the part of healthcare providers to reduce distress were inadequate. Less invasive procedures, however, occurred more frequently and could also be distressing. For example, more than half of participants in this study reported that venipuncture (blood tests and IVs) was distressing for their child. This finding was not unexpected given that numerous other studies have reported the same result (Fradet et al. 1990; Humphrey et al. 1992). In one British inpatient study, two-thirds of children reported that venipuncture was the worst thing that happened in the hospital, with some children likening it to being stabbed or hit with a hammer (Hands et al. 2010). Venipuncture is a regular part of follow-up care for some children in this study, and for most, this was their major concern during each physician visit. Even if a child had had numerous positive experiences with venipuncture, a single negative experience could trigger an increased fear of doctor appointments.

Despite the demonstrated distress caused by venipuncture, however, none of the parents in this study reported being offered professional assistance in preparing the child for this procedure, leaving them to discover by trial and error what worked for their child. Parents reported using a variety of techniques to manage their child’s distress during venipuncture, many of which have been studied and found to be effective (giving information, distraction, allowing limited control over the procedure). Two therapeutic techniques known to be effective, relaxation and imagery (Cohen 2008; Powers 1999; Stephens et al. 1999), were not used by any of these parents, suggesting a gap that could be addressed through education. Only one parent reported that her child was consistently offered EMLA cream for blood draws, despite evidence that this topical analgesic significantly reduces child distress during venipuncture (Cohen et al. 2001; Kolk et al. 2000).

Surprisingly, other less invasive tests also distressed some children. In this study, three children found x-rays to be distressing. While the x-ray itself is not painful, the challenges of positioning children with mobility issues can cause both physical discomfort and concern about falling. For one girl, x-rays were performed in the post-operative period and were painful due to the complications of working around a back brace and chest tube. While a routine x-ray may not be painful for her now, the procedure may induce fear due to negative memories.

These findings suggest that providers cannot reliably predict which medical procedures will be distressing for a child, since this is influenced by the child’s limitations and past experience. Some manifestations of anxiety, such as nausea, vomiting, crying, screaming, and resisting intervention, are overt (Blount et al. 1997; Dolgin et al. 1985). However, others are more subtle and children may be unable or unwilling to verbalize their feelings (Logan et al. 2008; Perrin and Gerrity 1981). In this study, half of the participants reported that they did not think providers were able to tell that the child was distressed. Furthermore, if parents are unaware that pharmaceutical or therapeutic interventions are available, or if they are proud of how well the child copes compared to siblings, they might not ask for assistance to manage their child’s distress.

Given that children with chronic illnesses will likely experience numerous needle-sticks and other procedures during routine care, investing resources in educating parents about effective therapeutic techniques for managing distress and available pharmaceutical interventions would have long-lasting benefit to the child and the caregiver. For example, although EMLA cream delays venipuncture by 30–60 min while it takes effect, possibly inconveniencing patients or allowing time for the child to become fearful, parents should be offered the opportunity to decide if it would benefit their child. Seven parents in this study said that they “made an event” out of the appointment by taking the child for lunch or another outing while in the city; for these parents, waiting a little longer for the procedure might not be a major inconvenience.

Ideally, these types of interventions would be offered the first time a procedure is performed to prevent anxiety from developing, and then continue to be offered in each subsequent instance. In reality, given the limited resources in most healthcare settings, the interventions are more likely to be offered only to children who are overtly exhibiting distress. Many hospitals now have Child Life Specialists who are trained to assess a child’s pain, advocate for adequate pain reduction, and implement therapeutic techniques to reduce child distress (Thompson and Thompson 2009). They endorse educating and involving parents in procedures, distracting and validating the child, and keeping the volume level to a minimum by eliminating extraneous personnel and conversation (for example, see www.onevoice4kids.com). The advantages of reduced child distress include a relaxed and comfortable child and parent, faster procedures, and long-term improved compliance with healthcare recommendations.

Benefit to the Family of Obtaining a Diagnosis

Parenting a child with a disability differs from parenting a healthy child in terms of care giving, supervision, and managing healthcare (McCann et al. 2012). For many of the parents in this study, the caregiving requirements for the child increased with age, rather than decreased, as the child lost functional ability. For some, constant vigilance is required for signs of illness that may rapidly worsen. Medical care involves lengthy trips to specialists and coordination of medication or adaptive equipment. These additional responsibilities exact an emotional toll on families and consume a significant amount of time.

In addition, during the diagnostic odyssey, parents face the uncertainty of not having an explanation for their child’s symptoms or a prognosis. While uncertainty is correlated with any serious childhood illness (Stewart and Mishel 2000), Lenhard et al. (2005) found that diagnostic uncertainty “constitutes a strong independent determinant of long-lasting emotional burden for parents.” It is correlated with lower perceived control (Madeo et al. 2012) and “may make the experience of raising a child without a diagnosis uniquely different” (Lewis et al. 2010). Unfortunately, though this period may be when families are most in need of support, it is also when the fewest options are available.

The participants in this study reported that obtaining a diagnosis was critical to alleviating some of this emotional burden by validating their concerns, providing a prognosis, and enabling them to access support services. Having a doctor confirm that they were correct to pursue a diagnosis was, in the words of one parent, “both scary and a relief.” Regardless of the severity, a diagnosis allowed parents to begin planning for the future, and they preferred knowing the prognosis to uncertainty. Other studies have also found that parents prefer having a diagnosis to uncertainty, even when the prognosis was serious or life-threatening (Makela et al. 2009; Stewart and Mishel 2000).

Once a diagnosis was made, parents were able to pursue therapies for their child, make modifications to the child’s environment to accommodate future mobility issues, and begin preparing the child for upcoming challenges. The whole family had time to adapt to a different lifestyle. A diagnosis also allowed parents to contact other parents through established support networks. The Muscular Dystrophy Association (MDA) provides both local and online support groups, as well as summer camps for children, where families can exchange stories, share experiences, and learn from each other. One parent of a child with a very rare disorder was able to connect through Facebook with other families sharing not only the same disorder, but also the same underlying genetic mutation, to compare treatment strategies.

These results echo those from previous qualitative studies. For example, Rosenthal et al. (2001) found that parents of children with unidentified multiple congenital anomaly syndromes believed that having a diagnosis would provide a prognosis for their child and allow them to access social support. Makela et al. (2009) found that, among parents of children with intellectual disability of unknown cause, “validation was the most commonly stated reason for wanting a diagnosis. The parents felt a diagnosis established proof of a credible problem, providing them mental and emotional relief.”

Obtaining a timely clinical or molecular diagnosis is not always possible, however, despite the best efforts of healthcare providers. In these cases, even if a child’s physical and medical needs are met, families may be left without the validation, support, and services they need. Lenhard et al. (2005) suggest that “presenting a reasonable, albeit uncertain ‘working diagnosis’ to the parents, instead of presenting no diagnosis at all, may sometimes be worth considering.” In the current study, the participant who became involved with the MDA before her son’s diagnosis was revoked spoke longingly of the support that was available during that period, supporting this suggestion.

Practice Implications

While families of children with neuromuscular disorders may face enormous challenges, this study demonstrates that healthcare providers can improve the well-being of patients and their families during the diagnostic odyssey by reducing the child’s distress during medical procedures and by supporting families emotionally.

When ordering a procedure, asking the parent how the child reacted in the past allows the provider to troubleshoot potential difficulties or request assistance for the child. This requires only a simple question, such as “How does she usually do with blood tests?” or “Has he had x-rays recently? How did that go?” If a conclusive diagnosis cannot be made, offering a “working diagnosis” may enable families to access addition support services and alleviate some of the uncertainty that is a hallmark of this process. Alternatively, asking families about the emotional impact of the diagnostic odyssey may suggest interventions or support services that would benefit them.

Study Limitations

One limitation of this study is that all participants were recruited from a single medical institution in a major metropolitan area; all participants had access to hospitals focused on children and to specialists in neuromuscular disorders. Furthermore, we were unable to draw generalizations about how children reacted to medical procedures at different ages, and about the effectiveness of therapeutic interventions, because the circumstances surrounding each procedure differed. Despite these limitations, this study provides insight into the multitude of ways in which the diagnostic odyssey impacts children and their families.

Research Recommendations

This exploratory study suggests numerous qualitative and quantitative avenues for future research. The target population could be changed to capture the experiences of families in rural areas or whose children have different diagnoses. Studies could control for the child’s age at diagnosis, the specific procedures experienced, or the length of the diagnostic odyssey. Also, the current study examined the child’s reaction to medical procedures as interpreted by the parent. A future study interviewing young adults about their perception of the diagnostic odyssey, the medical procedures experienced, and their current healthcare attitudes would deepen our understanding of the impact on families. Studies exploring the perspective of providers might also shed further light on this issue.

Conclusions

During a pediatric diagnostic odyssey, children may experience numerous procedures that are painful, frightening, or uncomfortable. These occur against a backdrop of emotional turmoil and uncertainty for families, when fewer support services are available than after a diagnosis is obtained. We sought to document the experience of the diagnostic odyssey as a whole from a parental perspective by interviewing ten parents of children with neuromuscular disorders. Two themes emerged.

First, children often found even “minor” or “non-invasive” medical procedures to be distressing, but were rarely offered therapeutic or pharmaceutical interventions despite their proven efficacy in reducing anticipatory anxiety. Because many participants reported that their child exhibited anxiety in ways that medical personnel may not notice, healthcare providers should ask parents about the child’s previous experiences. Identifying children who would benefit from interventions can have life-long implications for their health by improving their compliance with medical recommendations in adolescence and adulthood.

Second, obtaining a diagnosis for the child benefited the family in ways unrelated to medical management or reproductive planning. Parents felt that their concerns were validated, they were able to plan for the future, and they could tap into established support networks. Previous studies of families with other diagnoses suggest that these findings are not unique to neuromuscular disorders. These results suggest that healthcare providers can improve the experience of the diagnostic odyssey for families through their interactions with them, by asking about the emotional impact and connecting them to support services that may be available in the absence of a diagnosis.

Notes

Acknowledgments

Financial support for this study was provided by the Genetic Counseling Department and the Graduate School of Arts and Sciences at Brandeis University. Assistance in recruiting participants was provided by the Harvard Neuromuscular Disease Project at Boston Children’s Hospital. Special thanks to the ten study participants who took time from their incredibly busy lives to share their thoughts and experiences with us.

Conflict of Interest

Nikkola Carmichael, Judith Tsipis, Gail Windmueller, Leslie Mandel, and Elicia Estrella declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Nikkola Carmichael
    • 1
  • Judith Tsipis
    • 2
  • Gail Windmueller
    • 3
  • Leslie Mandel
    • 4
  • Elicia Estrella
    • 5
  1. 1.Genetic Counseling Program, Biology DepartmentBrandeis UniversityWalthamUSA
  2. 2.Genetic Counseling Program, Biology DepartmentBrandeis UniversityWalthamUSA
  3. 3.Department of Child Life ServicesBoston Children’s HospitalBostonUSA
  4. 4.School of Nursing, Science and Health ProfessionsRegis CollegeWestonUSA
  5. 5.Department of Genetics & GenomicsBoston Children’s HospitalBostonUSA

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