The data of PID patients were collected from two centers. The Hospital Universiti Sains Malaysia (USM) is a major teaching and tertiary hospital located in the northeastern part of the Malaysian Peninsula. It is a 747-bedded hospital that covers many branches of pediatric services, including PID. The second hospital is the Advanced Medical and Dental Institution, which is a highly specialized research center located in northwest Malaysia. It is a 27-bedded hospital and actively provides services for patients with PID on an outpatient basis.

The list of the caregivers of PID patients who had participated in a previous health-related quality-of-life (QOL) study was included (6). Patients with low QOL scores (mean < 67.26; defined as those parents or caregivers with a total score that is lower than the mean of the total score of the PID cohort studied as a comparison for cut-off points for low QOL scores) were identified and invited to participate in the present qualitative study (6).

This study was conducted through one-to-one interviews and audio recordings from March 1 to May 30, 2021. A semi-structured interview was conducted by a trained nurse who has no prior knowledge of the caregivers for 30 min. The interview questions were based on a previously published qualitative study (Table 1) (5). The questions were initially translated to the Malay language by a certified translator, and the interview was performed in the Malay language, given the fact that the majority of the participants were from Malay ethnicity. Consent was taken prior to the interview.

Owing to the physical restrictions imposed because of the COVID-19 pandemic, interviews were performed via a telephone call. Each interview was audio-recorded and transcribed verbatim for thematic analysis by the interviewer (FA) and was again translated to English by a certified translator. All the transcribed and translation materials were cross-examined by the principal investigator (IA) and two members of the research group (FA and IH) to ensure the validity of the content and that the meaning was not lost in translation. ATLAS.ti software version 9 was used. Immersion in the text and the identification of themes were performed according to the protocol of Braun and Clark (7). Themes and sub-themes were identified, and data triangulation was performed with the assistance of three authors (RAM, IH, and IH).

The ethical approval for this study was obtained from the Human Research Ethics Committee of USM (USM/JEPeM/20040229).

Thirteen caregivers were invited to participate in the interview. However, only 10 caregivers provided consent. The demographic characteristics of the caregivers (interviewees) and patients’ characteristics include those of a father and nine mothers (Table 2).

The thematic analysis revealed five core themes, which showed that most parents had difficulty in caring for their children with PIDs. Their lives were affected in many ways, and lifestyle adjustment was required to accommodate the burden of treatment. The five themes identified were living with fear and anxiety, PID healthcare support struggles, knowledge, social constraint and coping (Table 3). The themes and sub-themes identified were summarized and illustrated using word clouds (Figure 1).

Concerned about their children’s health, most parents expressed their experiences and fears of getting an infection and possessed overprotective behavior because of having a history of a long-time sickness, being subjected to hospitalization stress, worrying about inheritance and living with their emotional granting and suffering. This theme was further divided into four sub-themes:

One of the major issues of PID patients is a long history of recurrent infection. It leads to parents’ time being spent in hospitals for their children’s treatment. Most of the parents experienced prolonged hospital stays for several months, especially at the beginning of sickness early in the childhood age. These experiences were expressed as extremely stressful times and perceived as bad encounters.

A sense of sadness, denial, community refusal, confusion and concerns regarding their children’s learning were expressed in the parents’ interviews. Some parents refused to talk about them but explained these difficult experiences, such as the sense of guilt of carrying an inherited disease, and some had concerns on their children’s future.

Owing to the low immunity of their children’s health, parents explained on their fear of contracting infections in the interview. Fortunately, some of the parents were acutely aware of precautionary measures, such as overcleansing and avoiding to eat in exposed places to avoid the transmission of infectious organisms.

Parents raised concerns about the genetic inheritance in the family and expressed a concern that the disease might be passed down to future generations. Hence, some were against having children to avoid the transmissibility of life-threatening diseases to the offspring, and these acts seemed to be the mechanisms for evading the stressful circumstances that they were facing through.

Parents were having difficulties in accessing standard treatment and diagnosis procedures and the inability to satisfy the financial needs for expensive treatment and daily supportive care for their children. This theme was divided into four main sub-themes, namely, PID health system, diagnosis, treatment and financial issues.

The caregivers stated their good experiences with the current and available health facilities and medical services, such as bone marrow transplantation services. However, their preferences were related to clinical care provision by the tertiary hospitals and the experts in child-specific health (clinical immunology) to handle their needs. Some stated problems caused by the limited availability of clinical immunologists and local genetic testing centers.

Another important issue was related to the delay in establishing a PID diagnosis. Most parents struggled to arrive to the final disease diagnosis for their children, quoting a wrong diagnosis, time constraints, delayed timeline and the protracted process of investigations and diagnosis as a part of the reasons.

The journey that children with PIDs needed to undertake for appropriate care and treatment would represent another stress to parents and their children. The family has to endure life-long therapy, which all required full commitment from caregivers and patients. Immunoglobulin replacement therapy is considered one of the main lifelong therapies for patients with PIDs. It plays an important role in improving child health but is time consuming and requires planning with life adjustments.

The major concern was related to the financial provision for the medical expenses of children, especially in the current “status quo” governmental support for adult patients with PIDs and their families. Some parents received financial help from various sources, and others were facing issues regarding job security, employment and support.

The responsibility of raising and caring children is mainly shouldered by parents, especially mothers. Although filial care would allow family needs to be supported at hospitals and settings in our local context, this may be insufficient. Only some of the caregivers highlighted receiving help from their siblings, grandparents, extended family members and maid in child care.

This theme focuses on the experience when patients seek information regarding PID at school or in public domains. The two main sub-themes covered were disease understanding and educational issues.

This section was related to the parental understanding of PID. They described the sources of their information and their inability to explain it to others and the understanding of PID among the close relatives. Our data suggested a vacuum of knowledge at the early onset of child sickness because of the rarity of the diseases. Nevertheless, their knowledge and awareness improved when they received support from medical teams. They multiplied their efforts to search PID information. All respondents reported facing the misjudgments and misunderstandings of their children’s health by people close to their families.

Absenteeism in school mostly due to frequent hospital visits for immunoglobulin replacement treatment or multiple hospital admissions as a result of recurrent infections was the main concern for parents. Some of these children were very talented and showed excellent performance in their studies. Caregivers mentioned about an extended support from school teachers and healthcare providers when managing school issues and ensuring compliance to treatment schedules.

Some parents accepted their child’s diagnosis through positive reflection and modified their lives accordingly. They appeared to have strong spiritual faith and were grateful, stating their acceptance and surrender to God’s will. They described their children’s health improvement over time after regular treatments, such as intravenous immunoglobulin (IVIg) replacement therapy and BMT. This theme was divided into three main categories: acceptance, child health improvement and emotional hygiene.

Their long journey with a high sense of responsibility and acceptance to their current circumstances has led them to be more hopeful and faithful.

Most parents provided personal accounts of the severe infections of their children before the introduction of IVIg replacement therapy. They observed dramatic health improvement leading to minimal episodes of severe infections.

Some parents vented and shared their ill feelings and emotional burden. They felt encouraged to develop inner strength when facing daily struggles. They used self-motivation and perseverance to avoid being defeated by stress.

Most of the affected parents preferred home isolation and were against attending social events with friends and families. Furthermore, their relationships with their children and spouses have shown some gaps but were strengthened because of their children. Some families experienced parental separation or divorce, and some complained about lacking family time with their other children. This theme was divided into two main sub-themes: relationships and social isolation.

Despite the fact that caregivers faced enormous challenges with their children’s health conditions, most of the parents showed strong relationships by sharing responsibility in taking care of their PID children. Some parents admittingly lived separately to earn higher incomes to support their children’s healthcare needs.

Parents sacrificed their time, primarily focusing on their children’s benefit. They preferred to spend more time being at home rather than outdoor gatherings. Some children appeared to have problems in developing peer relationships as their parents did not allow them to mix with other children, indirectly wanting to avoid undesired infections.