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Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers

Orphanet Journal of Rare Diseases volume 19, Article number: 358 (2024) Cite this article

Abstract

Background

Children and adolescents with Pompe disease (PD) face chronic and progressive myopathy requiring time-intensive enzyme replacement therapy (ERT). Little is known about their perspectives on the disease and its treatment. This study explored their perceptions of disease symptoms and functioning status, and more subjective feelings about the impacts on their lives as part of developing a disease-specific questionnaire.

Methods

Eleven pediatric patients aged 8–18 years and 26 caregivers from six children’s hospitals in Germany, Austria, and Switzerland underwent semi-structured interviews. Data were recorded, transcribed using MAXQDA software, and analyzed using qualitative content analysis. A system of meaningful categories was developed.

Results

Sixteen main categories were derived across four major thematic areas: perceptions of symptoms and limitations, experiences to do with the biopsychosocial impact of PD, treatment experiences, and general emotional well-being/burden. Participants demonstrated broad heterogeneity in symptom perceptions such as muscle weakness, breathing difficulties, pain, and fatigue. Emotional appraisals of limitations were not directly proportional to their severity, and even comparatively minor impairments were often experienced as highly frustrating, particularly for social reasons. The main psychosocial topics were social exclusion vs. inclusion and experiences to do with having a disease. The main finding regarding treatment was that switching ERT from hospital to home was widely viewed as a huge relief, reducing the impact on daily life and the burden of infusions. Emotional well-being ranged from not burdened to very happy in most children and adolescents, including the most severely affected.

Conclusion

This study provided qualitative insights into the perceptions and experiences of pediatric PD patients. Interestingly, biopsychosocial burden was not directly related to disease severity, and tailored psychosocial support could improve health-related quality of life. The present findings ensure the content validity of a novel questionnaire to be tested as a screening tool to identify patients in need of such support.

Background

Pompe disease (PD; OMIM♯232300; Online Mendelian Inheritance in Man, OMIM®), also known as glycogen storage disease type II and acid maltase deficiency, is a very rare, progressive, and often debilitating metabolic myopathy. Inheritance is autosomal recessive: pathogenic variants in the GAA gene cause deficient activity of the enzyme acid alpha-glucosidase, which breaks down lysosomal glycogen. The age of onset is variable, and phenotypic variance is large, ranging from the classic and rapidly progressive infantile-onset type (IOPD) to the attenuated late-onset type (LOPD) [1]. Both types are characterized by progressive muscle weakness, which often leads to limitations in motor and respiratory functions. IOPD patients usually have very severe muscular hypotonia and the heart is also affected in terms of a cardiomyopathy. Untreated, IOPD usually leads to cardiorespiratory failure within the first years of life [2, 3]. Enzyme replacement therapy (ERT), approved in 2006, reduces mortality effectively in IOPD [4] and improves physical and respiratory function in LOPD [5]. However, ERT is time-consuming, costly and does alleviate but not cure the disease. Patients continue to suffer progression of symptoms [6, 7]. Under ERT, a new IOPD phenotype has emerged, including long-term survivors who may achieve developmental milestones like walking independently and/or sitting unassisted [4, 8]. Still, most IOPD patients experience secondary decline during childhood and the loss of achieved milestones. Also, severe breathing difficulties requiring invasive ventilation, swallowing difficulties and need for nasogastric tube or gastrostomy, as well as hearing difficulties are common in IOPD [6, 9]. Children and adolescents with LOPD are comparatively less affected in terms of both motor and respiratory function. However, the phenotypic spectrum is wide, ranging from asymptomatic at time of diagnosis to patients needing walking aids and/or ventilation at some point even with treatment [5, 10]. Both types may experience other symptoms including pain, fatigue, speech difficulties, and gastrointestinal complaints [4, 11]. Given the chronic nature of PD and the lifelong need for medical care, it is important to understand how best to support patients and families. Insight into subjective outcomes such as health-related quality of life (HRQoL) are crucial for this purpose [12].

Many definitions of HRQoL emphasize that it is a subjective and multidimensional construct about the biopsychosocial impact of disease and treatment [13, 14]. However, HRQoL is often not clearly distinguished from related concepts, in particular, from functioning, disability, and health (FDH), also termed health or functioning status [15, 16]. Cieza and colleagues [15, 17, 18] have provided helpful clarification by defining HRQoL as subjective feelings, emotions, and appraisals about health-related domains (e.g., satisfaction with physical abilities), whereas FDH includes subjective self-reports on objective health-related facts (e.g., statements about the ability to walk for a long time). In this paper, we adopt this distinction and refer to FDH-related aspects as “perception” and HRQoL-related aspects as “experience.”

Efforts have been made to examine disease-specific FDH and HRQoL through qualitative studies with adult PD patients and experts and the development of self-report questionnaires [19,20,21,22]. However, very little is known about the health perceptions and appraisals of children and adolescents with PD. Today, only one disease-specific proxy report is available for this age group, and it focuses solely on mobility and self-care from an FDH perspective (Pompe-PEDI; [23]). Our research group is currently developing the first disease-specific questionnaire for pediatric patients with PD that covers FDH and HRQoL through self- and proxy-report (manuscript submitted for publication by our research group). Creating items with high content validity requires concept elicitation interviews with patients to identify meaningful topics [24, 25]. Such qualitative approaches can facilitate a better understanding of the burdens and needs of the patient population and provide a starting point for improving patient support, clinical care, and ultimately their HRQoL.

This paper presents a qualitative content analysis of interviews with children and adolescents with PD and their caregivers. The study identifies key topics of PD-specific FDH and HRQoL and thus provides insights into their lives. We explore four major thematic areas: (1) perceptions of symptoms and related limitations, (2) experiences to do with the biopsychosocial impact of PD on their lives, (3) experiences to do with treatment, and (4) general emotional well-being/burden.

Methods

Study design, subject recruitment, and participants

This qualitative study is international and multicenter in scope. It was conducted in full accordance with the Declaration of Helsinki and approved by the review boards of the participating institutions in Bregenz, Giessen, Mainz, Salzburg, Vienna, and Zurich. Local metabolic physicians invited patients aged 8 to 18 years with PD and parents of patients older than 3 years to participate either by phone or during regular appointments. Exclusion criteria were an insufficient command of German and, for patients only, the incapacity to follow the study procedures (e.g., due to severely reduced health status).

Nineteen families participated in the study: 11 children and adolescents, 17 mothers, and nine fathers. In two families, only the patient was interviewed; in four families, the patient and the mother; and in five families, the patient and both parents. In four families, only the mothers were interviewed; in another four families, both parents participated in interviews.

Materials and procedures

Sociodemographic and medical characteristics

Informed consent was obtained from participants before recording basic information on sociodemographics (sex, age, children’s mother tongue, parents’ country of birth), PD type (IOPD vs. LOPD), age at diagnosis, walking capacity, respiratory support, and ERT (location, frequency).

Qualitative interviews

The interviews were conducted by the first author (MIT), a trained moderator with a background in psychology. Because the study started in 2021 during the COVID-19 pandemic, one-on-one online interviews were arranged for all participants. For one family, an adolescent patient and mother, online interviews were not possible, so they were interviewed at their home. In four patient interviews, a caregiver was present, primarily for assistance due to speech difficulties. In one case, the father of the interviewee repeatedly interrupted the conversation, leading to the exclusion of the corresponding data. One pair of parents wanted to be interviewed together. All interviews followed a semi-structured format. The procedure was documented in a manual, based on similar previous projects for other diseases [26, 27]. It underwent revisions and adaptations following feedback from several experts, including three physicians specialized in PD, a home care nurse with experience in ERT, and an adult patient with PD. The final manual contained various open questions for several topics (see Fig. 1, left side). In addition, it included possible follow-up questions for very briefly answered questions such as “can you describe this?” and “how do you feel when this happens?” Questions for caregivers were rephrased in parallel (e.g., “what bothers your child most about having PD?”).

Fig. 1
figure 1

Main interview topics and analysis procedure based on Kuckartz [29]

Note: Figure design was adapted from [27]. Coding remarks: Only meaningful statements were coded, that is, statements directly relevant to the four major thematic areas (e.g., parent-related experiences were not coded); Some statements addressed past perceptions or experiences. These were coded the same as those related to the present; A transcript passage could be assigned to multiple categories if it contained meaningful statements for more than one category (as outlined in [29]. A A mixed deductive-inductive approach was applied, combining prior knowledge (deductive; e.g., literature on PD and HRQoL) and observations from the interviews (inductive) to derive categories. B Subcategories were only derived for a given main category, if clearly distinct sub-aspects were described

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Transcription & qualitative analysis

Transcription and thematic qualitative content analysis were conducted with MAXQDA software [28] following established procedures [29, 30]. Interviews were conducted in German and transcribed verbatim by three student assistants. Statements presented in the results section of this paper have been translated into English and condensed for brevity. Content analysis was led by MIT, with support from four additional student assistants. To ensure consistency and shared understanding, assistants were briefed on the project’s aims, methods, and literature covering PD [4, 7, 19, 22, 31,32,33,34,35], HRQoL, and related concepts [15,16,17, 36,37,38,39,40].

A set of main categories and subcategories was derived in several analytical steps (see Fig. 1). Initially, two coders collaboratively derived preliminary main categories from the four major thematic areas: (1) perceptions of symptoms and related limitations (FDH): reports of objective states of symptoms and associated impairments in daily activities; (2) experiences to do with the impact of PD (HRQoL): subjective feelings and appraisals around the biopsychosocial impact of PD on patients’ lives; (3) experiences to do with treatment (HRQoL): subjective views of treatment and associated challenges; and (4) general emotional well-being/ burden: reports of overall emotional state. Afterward, coders independently coded parts of the interviews to main categories and then compared their transcripts (i.e., consensual coding procedure). Disagreements were discussed until consensus was reached and category definitions were specified. Subsequently, four coders assigned all meaningful statements from the transcripts to the refined main categories. Any coding uncertainties were resolved through collaborative decision-making. This process was repeated to define and code subcategories by three coders.

Preparation of results

After coding, statements within each category were carefully reviewed to identify key points, and the frequency of categories across cases was determined. Each case represented the data for one patient derived from one to three interviews. The number of statements in each category was evaluated for each case. Category frequency was calculated by dividing the number of cases with statements in that category by the total number of cases.

Results

Sample characteristics

The mean age of the patients from the 19 families was 12.0 years (SD = 5.2); 36.8% were female, 89.5% spoke German as mother tongue, and 36.8% had IOPD. Mean age at diagnosis was 4.0 years (SD = 4.5). Three patients were unable to walk (15.8%) and two required a walker or other assistance (10.5%). Four patients required breathing support (21.1%; n = 1 tracheostoma; n = 3 breathing masks). Table 1 provides an overview of patients from the 19 families, including examples of current symptoms/limitations reported during the interviews. All patients received ERT (73.7% biweekly, 26.3% weekly). Eighteen of them (94.7%) had switched to infusions either at home (73.7%) or in other locations (e.g., school; 21.1%). The mean age of the 17 mothers was 43.1 years (SD = 7.1; one was born abroad). The mean age of the nine fathers was 45.2 (SD = 6.9; none was born abroad).

Table 1 Overview of the characteristics of the pediatric patients from the 19 families for whom interview data was analyzed
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Categorical system

A total of 1393 meaningful statements on PD-specific FDH or HRQoL were identified from the transcripts. First, 16 main thematic categories were derived within the four thematic areas, with one to six categories per area. Then, 12 of the 16 main categories (75%) were subcategorized.

Area I: perception of symptoms and associated limitations

The interviews highlighted the perception of various symptoms and related difficulties, leading to the definition of six main categories with zero to ten subcategories (Table 2).

Table 2 Perception of symptoms and associated limitations: description of qualitatively derived categories
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  1. 1)

    Muscle weakness

Difficulties associated with muscle weakness were the disease symptoms most frequently discussed (reported in 89.5% of cases) and encompassed a wide range of impairments in daily activities, such as driving a manual wheelchair, standing, and riding a bike uphill. Ten subcategories were defined (Table 2). The most important topic was difficulties in walking and running, reported in 84.2% of cases, ranging from inability to walk to milder difficulties such as reduced running speed.

Mother of a severely disabled teenage girl, 14 years: “So, the skeletal muscles do not work at all anymore. She can only perhaps move a few fingers.”

  1. 2)

    Difficulties breathing

Breathing difficulties were reported in 36.8% of cases. These included issues at rest, such as constant need for respiratory support and difficulties breathing while lying down. Others were activity-related difficulties, such as running out of breath while walking. For some participants, breathing difficulties were the primary limiting factor in activities, more so than muscle weakness.

Teenage boy, 13 years: “When we go for longer walks, I can’t join in because my endurance is limited. . My muscles could actually still do it, but my breathing can’t.”

  1. 3)

    Musculoskeletal pain, tension, & posture difficulties

Musculoskeletal pain, tension, and posture difficulties were reported in 31.6% of cases. Back and neck tension and pain, sometimes associated with severe headaches, emerged as key issues. Frequently associated with this were postural problems such as a rigid torso and challenges in maintaining an upright position. Due to postural problems and pain, individuals also faced problems sitting or walking.

Mother of a boy, 7 years: “And what he also often has because of his posture, also simply because he is so hypotonic, is back and neck pain. He also has a lot of headaches as a result. . So that’s two or three times a week where he currently has severe headaches. . Sometimes it’s so bad that he has to vomit.”

  1. 4)

    Fatigue/exhaustion

Symptoms of fatigue were mentioned in approximately one third of cases (36.8%). Almost all statements were about activity-related exhaustion: patients got tired easily during physical activities or due to the demands of daily life.

Mother of a boy, 7 years: “You can generally say that his normal everyday life is very exhausting and makes him tired. And we always must make sure that we don’t overdo it in the morning when we’re planning activities. . So he sleeps a lot. He sleeps 12 hours a night, and he’ll even catch an hour at lunchtime if he can. But he’s not tired for no reason.”

  1. 5)

    Other PD symptoms

Most participants (89.5%) reported one or more additional symptoms. Among these, slight to severe difficulty swallowing was identified as one of the most prevalent (42.1%). In addition, some parents reported improvements or complete resolution over time and attributed this to early logopedic interventions. Frequent and/ or severe respiratory infections were also common (42.1%), with clear improvements reported after early childhood.

Father of a boy, 7 years: “We had problems with infections at the beginning. They always immediately affected the bronchial tubes, the lungs. But for a few years now, he’s seven, that’s no longer the case.

  1. 6)

    Symptom changes in relation to the ERT

Changes in symptoms related to ERT were described in 73.7% of cases. Some accounts highlighted continuous or very sudden improvements or stabilizations after starting ERT, such as disappearance of severe headache within a few appointments. Others described fluctuations between ERT appointments or on the infusion day, such as increased energy in the first days after infusion or getting tired during or after the procedure.

Adolescent girl, 18 years: “Whenever I’ve had it [ERT] again, I notice that I am simply much, much fitter. And then it actually goes on for almost two weeks. And then, yes, I realize again that it’s slowly becoming necessary again.”

Area II: experiences to do with the impact of PD on life

Experiences to do with the impact of PD on life were grouped into five main categories, each with two to six subcategories (see Table 3).

Table 3 Experiences to do with the impact of PD on life: description of qualitatively derived categories
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  1. 1)

    Specific physical aspects

More than two thirds of the patients (68.4%) had experiences, mostly negative, involving one or more specific physical aspects. Although there were relatively few statements about each aspect (percentages ranged from 15.8 to 36.8%), patients often found these experiences to be quite distressing. Pain-related experiences in particular resulted in severe suffering. Other issues included fear of suffocation, dissatisfaction with being very thin, especially among male patients around or during puberty, and worry about diarrhea-related incontinence events.

Mother of a boy, 7 years: “So the headaches have increased dramatically over the last year. And it’s very stressful because it’s now also taking away his quality of life. . We’ve already had to pick him up from kindergarten a few times because of it. And then he just lies on the couch.”

Adolescent boy, 18 years: “So I weigh very little. About 33kg. And yes, of course that bothers me a bit because I’m very thin. . for example, we went swimming recently and everyone else went swimming but me. Because I don’t like to show myself like that.”

  1. 2)

    Physical limitations

The impact of physical limitations was a very important issue for nearly all children and adolescents (89.5%). An important distinction depended on whether a social component was involved. Anger or sadness resulted from being unable to keep up with peers or to participate in social activities, regularly making even relatively minor limitations very troublesome. Experiences without a social component included frustration about being unable to perform certain activities at all or requiring extra effort or assistance. Due to the negative experience of limitations, some patients did not want to engage in physical activities in which limitations played a role, but others enjoyed the activities despite the limitations.

Mother of a boy, 7 years: “We tried soccer. . And he quickly realized that he couldn’t keep up and that was a real red flag for him. So, he categorically refuses to do things like that, where you can see straight away that something is different with him.”

Boy, 10 years, non-ambulatory: “Yes, I can’t walk; that’s the only thing that really bothers me. And what also bothers me is that there are things that you can only do while walking.”

  1. 3)

    Handling of and impacts from social environment

Social impacts were reported in most cases (89.5%). An important aspect for many children and adolescents was social exclusion or worry about this. Examples included feeling sad when excluded from activities such as playing football or being bothered by insults or insensitive remarks, which sometimes happened unintentionally. However, acceptance and support from peers was also regularly mentioned, for example that friends naturally take one’s limitations into account when initiating activities. The interviews also highlighted that some patients appreciated being asked about their condition, while others preferred not to explain it at all or not repeatedly.

Mother of a boy, 7 years: “He has a somewhat special pronunciation. . people who don’t know him, who then don’t understand him, often make stupid comments. ‘Why do you talk so funny?’ Disparaging remarks that you make in passing. Probably not meant in a bad way by the other person, but which of course have a negative effect on the person concerned.”

Girl, 11 years: “So the Pompe disease doesn’t bother me that much, because I also have normal friends, they just accept me for who I am. . And we just play what I’m good at.”

  1. 4)

    Plans and thoughts for the future

For about two thirds of the children and adolescents (63.2%), statements were expressed indicating future-related thoughts about the disease. These encompassed two main aspects. Some thought about disease progression or early death (e.g., worrying that symptoms would get worse or hoping that they would remain stable), whereas others were troubled by impacts on long-term plans, such as difficulties studying abroad due to the ERT or giving up professional aspirations because of physical demands.

Mother of a boy, 6 years, with previous acute life-threatening episode: “There are days when he always tells me that he has to start looking for a woman to marry. . And then one day later he tells me that when he’s dead, we have to throw him in a hole and throw earth on top of him, because that’s how it’s done. That’s still so childlike, he still hasn’t really grasped it.”

Adolescent boy, 18 years: “I would actually have liked to join the army. . and that wasn’t possible because of my disease and the situation was so, so stupid.”

  1. 5)

    Having a disease

Experiences to so with having a disease were evaluatively categorized based on their valence. Some expressed a sense of acceptance: “having PD is okay”. Such neutral to positive experiences included handling the disease well overall, having gotten used to it, or feeling unique because of it, even though it can be quite annoying at times. In contrast, the disease was also reported as a burden: “having PD is quite burdensome.” These negative experiences included feelings such as intense sadness and anger about having it, a sense of inequality, and a desire to avoid any confrontation with the disease, including treatment appointments. Notably, 36.8% of cases reported both positive and negative statements, whereas 42.1% expressed only neutral to positive statements and 21.1% only negative statements.

Teenage boy, 13 years: “I don’t find it that bad because I’ve already adjusted to it and gotten used to it. So it’s actually not such a big issue.”

Mother of a teenage boy, 18 years: “He doesn’t want to be a patient. He wants to be normal. He wants to be like his peers.”

Area III: experiences to do with treatment

Four main categories of treatment experiences were derived, each with up to four subcategories (see Table 4).

Table 4 Experiences to do with treatment: description of qualitatively derived categories
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  1. 1)

    ERT

In all cases (100%), experiences to do with the ERT were discussed, and children and adolescents generally acknowledged it to be a necessary part of their lives. However, attitudes towards ERT varied, from considering it the greatest burden of the disease over ambivalence to even positive anticipation: “looking forward to it.” Infusion-related burdens were frequently mentioned, with some finding them very challenging and others having no issues. In daily life, some were very bothered about the frequency or duration of the ERT sessions, while others viewed them more favorably. Another topic was the switch of ERT from hospital to home. In general, this change was very well received due to the decreased impact on daily life and the presence of a familiar team of nurses whom they could trust with the infusion process.

Teenage boy, 18 years: “Nowadays, I don’t have many problems with the therapy. . In the past, I had to have it at the hospital. Then, it was very annoying to fit it into my daily life.”​.

Mother of a girl, 3 years: “So I think the infusion at home is great; for my daughter, it’s more like a friend coming to visit.”​.

  1. 2)

    Medical check-ups

Medical check-ups were also discussed in all cases (100%), expressing diverse attitudes from dislike through mixed feelings to not minding them. For some, blood draws were very burdensome, especially if performed through the vein instead of the port catheter, and the importance of how medical staff handled examinations was emphasized. In addition, some found the disruption of daily life annoying, especially for check-ups lasting more than one day, while others experienced part of check-up days as quality time with their parents.

Mother of a boy, 7 years: “Oh, if it wasn’t for the blood draw, it wouldn’t be so dramatic. Although he didn’t make a face during the last blood test. . Drawing blood isn’t really his thing because they do it via the vein and not via the port catheter. . It always depends a bit on which of the trainee doctors is on duty at the time. . more or less empathetic in relation to children. . But does he experience the entire hospital time as negative, no. Because as I said, we spend the night in the hotel beforehand, and we stop at McDonalds. What more could you want?”

  1. 3)

    Supplementary therapies

Experiences to do with supplementary therapies were mentioned in 73.7% of cases. While some enjoyed them as playful or helpful experiences, others considered them an additional time burden, not beneficial, or simply disliked any activities related to “having a disease.”

Father of a boy, 7 years: “At early intervention, it was very playful. . .That wasn’t really an issue. And apart from that he gets therapeutic riding. . He doesn’t want to go there, but when he’s there, he has fun. . But he generally doesn’t like these appointments. Because I think he always associates it with. . I only have to do it because I’m different from others.”

  1. 4)

    Other treatment-related issues

In about half of the cases (63.2%), various treatment-related issues were discussed, particularly experiences to do with medical aids (47.4%). Some expressed a sense of gratitude for their aids, whereas others were bothered by them for reasons such as dependency or viewing them as a symbol of disease. Other topics included concerns about insurance coverage for ERT and engagement with potential therapeutic advances, accompanied by feelings of either hope or disappointment.

Father of a teenage boy, 13 years: “At first it was with resistance. ‘I’m not wearing the mask, I’m not stupid.’ And now, as I said, it’s completely clear to him that ‘I need the mask.’. . Similar to the orthosis, lot of resistance at first: ‘I won’t put it on, it looks like shit.’ And now he says, well, ‘I’ll put it on, because if I wear it for longer, I notice that it helps.’”.

Area IV: general emotional well-being/burden

Although the interviews did not explicitly inquire about general emotional well-being/burden, nearly all cases (94.7%) made statements about this. These statements were categorized evaluatively to determine whether they indicated that a child was generally not emotionally burdened or that he or she was, either intermittently or in general (see Table 5). Interestingly, higher levels of physical disability did not necessarily correspond to higher emotional burden. For most children and adolescents, including the most physically impaired, statements ranged only from no emotional burden to good general well-being (78.95%). Conversely, the two patients with clear emotional burden had relatively mild restrictions. In addition, statements were mixed for one adolescent.

Table 5 General emotional well-being/burden: description of qualitatively derived categories
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Mother of a severely disabled teenage girl, 14 years: “In her condition, what a joy for life she has. . she is actually never sad or moody, very rarely actually. Only when she’s in pain, otherwise, she is a friendly, cheerful girl.”​.

Teenage girl, 11 years: “I’m actually only angry when my mom forbids me to do something that I actually want to do. Or sad when something sad has happened or something like that. But otherwise, I’m actually mostly happy.”

Mother of a boy, comparatively mildly restricted, 10 years: “You think everything is actually fine, but then he has these slumps again, these psychological ones, he goes from being elated to being desperately sad and everything is bad.”

Discussion

This study offers a broad picture of topics reported by children and adolescents with PD and their parents about how they perceive symptoms and related limitations (FDH-related aspects), how they experience the biopsychosocial impact of PD and its treatment on their lives (HRQoL-related aspects), and their general emotional well-being/burden. Through thematic content analysis of qualitative interviews with patients and caregivers, we identified 16 main categories, many with subcategories, relevant to PD-specific FDH or HRQoL. Our results advance the understanding of the burdens and needs of children and adolescents with PD and provide a basis for improving patient support, clinical care, and patients’ HRQoL. In addition, they are critical for ensuring the content validity of the first disease-specific questionnaire for pediatric patients with PD assessing both FDH and HRQoL.

In Area I, disease-specific FDH, broad heterogeneity was observed in perceived symptoms, their severity, and associated limitations among children and adolescents with PD, corresponding with the well-documented PD phenotypic variance [10]. Our sample depicted this variance, ranging from a female adolescent unable to move at all and dependent on constant ventilatory support to a male adolescent who considered himself physically fitter than most of his healthy peers. Muscle weakness in legs, arms, and core was the most prevalent symptom, leading to walking difficulties in almost all cases. Breathing difficulties, musculoskeletal issues, and fatigue were each problematic for about one third of participants, with other symptoms such as swallowing difficulties commonly reported. The issues mentioned and their heterogeneity align with qualitative studies investigating adults with LOPD [31] and are essential to developing and phrasing appropriate FDH-related items for our questionnaire.

Participants reported continuous or sudden improvements after starting ERT or adjusting dosages. In line with previous research [41, 42], accounts of symptom deterioration after several years of treatment were also identified. These findings emphasize the need of regular monitoring and the importance of the ongoing developments of new treatment options [43, 44].

In Area II, belonging to HRQoL, specific physical aspects were often a major burden for the subgroups of patients impacted by them. Intense pain in particular caused severe suffering. This is in line with a systematic review of 48 qualitative studies on children and adolescents with neurological or musculoskeletal disorders which indicated that pain is a main cause of reduced quality of life [45]. Regular assessment and adequate treatment of pain is therefore important in PD patients. Given the interplay of biological, psychological, and social factors contributing to chronic pain, multidisciplinary treatment such as a combination of psychological, physical, and medical interventions is recommended for pediatric pain management [46]. Physical limitations emerged as a key impact, leading to negative emotions such as frustration in almost all patients, even those with comparatively mild restrictions. This was probably because not only the restrictions themselves but also their social consequences were bothersome. This aligns with reports from ambulatory boys with Duchenne muscular dystrophy that the inability to keep up with peers is especially relevant to them [47]. Although physical limitations cannot be directly changed, the social exclusion associated with them could be addressed, for example by school-based interventions. Studies focusing on awareness enhancement have shown promising results in improved attitudes and acceptance of peers with disabilities [48, 49].

The appraisal of having a disease as either “okay” or “quite burdensome” was also important. Cognitive and emotional perceptions and appraisals of illness have long been discussed as central factors influencing coping and psychological adjustment to chronic disease in patients of all ages [50,51,52]. In our sample, “having PD” was viewed exclusively negatively by the two patients who were emotionally very burdened. Furthermore, an overall negative view of PD overlapped with other negative experiences related to being confronted with the disease: disability-related shame, annoyance at being asked about PD, and all treatment-related appointments. To challenge dysfunctional illness-related cognitions and coping strategies and improve psychological well-being, cognitive behavioral therapy has been proposed for pediatric patients with physical diseases [53].

In Area III, also HRQoL, patients acknowledged the necessity of treatment, although some found it very burdensome, as with other chronic conditions [45]. Consistent with a previous qualitative study investigating hospital-based ERT in which some participants expressed strong wishes for home-based infusion [32], the transition to home infusion generally increased treatment satisfaction by reducing both infusion-related burden and disruptions to daily life. Given the huge relief it brings and its safety [54, 55], ERT should be available at home for all patients.

Medical check-ups were experienced as scary, annoying, or even unnecessary by some of the patients. Thus, and in line with general recommendations for pediatric patients with chronic conditions, medical teams should carefully consider the necessity and frequency of follow-ups [12]. Furthermore, our findings suggest that open communication about the aims of examinations and patient involvement in organizing check-ups, for instance deciding between outpatient or inpatient between visits, could reduce burden. To reduce injection-related burden from both ERT and check-ups, a combination of topical anesthetics, age-appropriated distraction, and positioning for comfort is recommended for pediatric patients [56].

In Area IV, the main finding was that most patients in our sample, including the most severely affected, were not generally emotionally burdened (Area IV). This suggests that, overall, most pediatric patients adapt well to their condition, and that severe limitations do not necessarily lead to lower emotional well-being. Similar phenomena, known as the “disability paradox,” have been described in other chronic diseases [57]. A study on adults with PD also found no significant correlation between functional disability and mental health [58]. Thus, the emotional well-being of pediatric patients should be assessed independently of objective disease severity to identify those who may benefit from psychological support.

Overall, our results highlight that not only physical but also various psychosocial factors impact children and adolescents with PD. However, current recommendations on the clinical management of pediatric patients with PD do not yet incorporate such aspects [59, 60]. Therefore, it is important that forthcoming recommendations take this into account by mirroring approaches undertaken for children with similar diseases such as spinal muscular atrophy [61].

The main limitation of our study is the use of a convenience sample, which may introduce selection bias and thus limit the generalizability of the results. In this respect, it should be noted that children and adolescents with severe health issues who could not follow the study procedures had to be excluded, resulting in less self-reported interview data from more affected patients. To address this, we included parents regardless of their child’s health status. Additionally, the cross-cultural generalizability of our findings may be limited because we only included participants with sufficient German knowledge from three German-speaking countries. Furthermore, although the clear separation of FDH from HRQoL was a strength, this dual focus resulted in a lengthy interview manual with many questions. Thus, some restrictions on follow-up questions were necessary to manage acceptable interview duration, which in turn potentially limited the depth of exploration of some topics. Future qualitative studies focusing on narrower constructs with more representative samples would enhance understanding of the unique challenges faced by children and adolescents with PD. In addition, while comparable with other qualitative studies devised for questionnaire development [27, 31, 62], our sample size is relatively small for quantitative estimations. Therefore, caution is advised when interpreting frequency data. Also, the qualitative design and sample size precluded rigorous identification of potential risk and protection factors. Although the present results suggest that objective disease characteristics are poor indicators of HRQoL in pediatric patients in PD, future quantitative studies with larger samples are needed to test the impact of medical variables on HRQoL and to assess potentially influential sociodemographic factors such as age and gender.

An important strength of this study is the clear distinction between FDH and HRQoL, which addressed past and ongoing inconsistencies in the literature [15, 16, 38]. In addition, the international patient recruitment resulted in a diverse sample and reduced center-related bias. The use of a structured interview manual based on previous experience [26, 27] and expert input ensured consistency in data collection, and the content analysis was performed using established procedures and software. Finally, a qualitative approach such as ours enhances content validity when developing a questionnaire [24, 25] and provides broad in-depth insights into the disease-specific health perceptions and experiences of children and adolescents with PD.

Conclusion

Our qualitative interview study identified key physical and psychosocial challenges faced by children and adolescents with PD. Interestingly, many young patients adapted well to their condition in their overall emotional well-being. However, the various impacts of the disease and its treatment were also linked to substantial burdens that were not proportional to objective disease severity. Some of these can probably be alleviated, for example through tailored psychosocial support. Therefore, it is crucial to identify patients at risk for impaired HRQoL. Our newly developed questionnaire, informed by the present results, should be tested as a screening tool for this purpose. Additionally, our results underscore the importance to patients of administering ERT at home.

Data availability

Interview data are not publicly available due to their sensitive nature. The data that support the findings of this study are available on reasonable request from the corresponding author.

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Acknowledgements

We thank all children and adolescents with PD and their caregivers who participated in the study and shared their experiences with us. Many thanks go to Christa Messmer and Annic Kolbrück for providing feedback on the interview manual, Pauline Ruhr, Michèle Meier, and Celina Weber for transcribing the interviews, Stefan Eberhard, Naomi Suana, Bettina Lehmann, and Flavio Heller for assistance in the qualitative analysis, Anett Salamon for supporting recruitment of participants in Mainz, Anja Bomba for supporting the EC submission in Salzburg, and Simon Milligan for language editing of this manuscript. We thank Sanofi for the financial support of the project.

Funding

The project was supported financially by Sanofi. There was no influence on the content of the project work, the study processes, or on the content and preparation of this manuscript.

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Authors and Affiliations

  1. Division of Metabolism, Children’s Research Centre, University Children’s Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zürich, 8032, Switzerland

    Moritz Ilan Truninger, Helene Werner, Marianne Rohrbach & Martina Huemer

  2. Department of Psychosomatics and Psychiatry, University Children’s Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland

    Moritz Ilan Truninger, Helene Werner & Markus Andreas Landolt

  3. Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Binzmühlestrasse 14, Box 8, Zürich, 8050, Switzerland

    Moritz Ilan Truninger, Helene Werner & Markus Andreas Landolt

  4. Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany

    Andreas Hahn & Charlotte Pfrimmer

  5. Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany

    Julia B. Hennermann

  6. Institute for Inherited Metabolic Diseases, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria

    Florian B. Lagler

  7. Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

    Dorothea Möslinger

  8. Department of Paediatrics, LKH Bregenz, Bregenz, 6900, Austria

    Martina Huemer

  9. Competence Area Healthcare and Nursing, Vorarlberg University of Applied Sciences, Hochschulstr.1, Dornbirn, 6850, Austria

    Martina Huemer

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  1. Moritz Ilan Truninger
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Contributions

MIT was involved in designing the study, contributed substantially to acquisition of data, analyzed and interpreted data, and drafted the manuscript. HW was involved in designing the study, supervised data acquisition and analysis, contributed to data interpretation, and revised the manuscript critically for intellectual content. MAL contributed to the study conception, interpreted data, and revised the manuscript critically for intellectual content. AH and MR provided feedback on the interview manual and were involved in recruitment and the acquisition of patient data. JBH, FBL, DM, and CP were involved in recruitment and the acquisition of patient data. MH provided the original study concept, made substantial contributions to study design, coordinated the study, provided feedback on the interview manual, contributed patient data, interpreted data, and revised the manuscript critically for intellectual content. All authors read and approved the final version.

Corresponding author

Correspondence to Martina Huemer.

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Ethics approval and consent to participate

The study was approved by the review boards of all participating hospitals and conducted in full accordance with the Declaration of Helsinki. Participants gave informed consent for their and their child’s participation. Adolescent patients gave informed consent for participation.

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Not applicable.

Competing interests

The authors declare that they have no financial interests or personal relationships that could have influenced the conduct or reporting of this research. MH has received unrestricted research grants from Nutricia Metabolics and SOBI, and consultancy honoraria or travel support from Aeglea, Nutricia Metabolics, Sanofi, Recordati, and Immedica Pharma, all unrelated to this work. AH has received consulting fees, honoraria, and/or travel expenses from Amicus, Takeda, and Sanofi. JBH has received consulting fees, honoraria, and/or travel expenses from Chiesi, Amicus, Takeda, and Sanofi. FBL has received unrestricted research grants from Sanofi, Takeda, and Chiesi, and honoraria as speaker and consultant from these companies and from Biomarin and Amicus. These relationships pose no conflict of interest with the current study.

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Truninger, M.I., Werner, H., Landolt, M.A. et al. Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers. Orphanet J Rare Dis 19, 358 (2024). https://doi.org/10.1186/s13023-024-03368-7

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172