Experiences of families of children with spinal muscular atrophy and the healthcare professionals supporting them during the COVID-19 pandemic: A nationwide study

Abstract

Purpose:

This study aimed to explore how parents and grandparents of children with spinal muscular atrophy (SMA) perceived how the COVID-19 pandemic affected their access to medication and physiotherapy. Further, healthcare professionals’ experiences of the care of children with SMA during the pandemic were explored.

Methods:

Thirty-nine parents and three grandmothers of 28 children with SMA answered a web-based survey at two time-points. Telephone follow-ups were conducted with seven of the parents. Parallel focus group interviews were conducted with three interdisciplinary teams of healthcare professionals.

Results:

Results showed that 21 family members, 12 children, and nine parents in the study tested positive for COVID-19 during the pandemic. None of the children became seriously ill. All respondents, however, indicated that the pandemic had a significant impact on their everyday life. It made socializing difficult for the children and reduced their access to physiotherapy, hydrotherapy, and personal care attendants. The pandemic also influenced the location of some nusinersen treatments. The professionals reported that, although much of their work continued as usual, they experienced increased stress from their role in nusinersen assessments.

Conclusion:

These results suggest that it may be valuable to find ways for healthcare professionals to support each other and to support their efforts to help severely ill children and their families now that healthcare systems have opened up again.

Introduction

As the coronavirus disease 2019 (COVID-19) has spread worldwide, it has exposed individuals and healthcare systems to enormous pressure and demanding challenges. ¹ The infection typically involves symptoms such as fever, coughing, and shortness of breath.^2,3 Given COVID-19 symptoms, children with spinal muscular atrophy (SMA) were expected to be especially vulnerable, since respiratory impairment is common in SMA^4,5 and those affected are often dependent on respiratory support and assisted ventilation. ⁶ Furthermore, COVID-19 led to extensive societal restrictions and requirements of social distancing. ⁷ For families of children with SMA, who are often in need of regular contact with healthcare professionals and personal care attendants, the impact on their lives was most likely more extensive than for families in general. SMA is a genetic disorder characterized by progressive death of motor neurons in the spinal cord, resulting in various degrees of loss of motor function and eventually also feeding and respiratory function. Based on the degree of severity, SMA is typically classified as type 1, type 2, or type 3, with SMA type 1 being both the most common form of SMA (60%) and also the most severe. Before there was access to disease modifying therapies, SMA type 1 was the most common genetic cause of death in infancy. Children with SMA type 1 never achieve independent sitting and >95% die before two years of age. Children with SMA type 2 achieve independent sitting but not independent ambulation; at some point, individuals with SMA type 3 achieve independent ambulation. As muscle weakness is the main symptom of SMA, interventions by physiotherapy, orthoses, and braces to prevent contractures and scoliosis are a backbone of SMA management. Feeding/nutrition and respiratory support are two other crucial areas in SMA care. Yet another important part of habilitation in SMA is to ensure availability of aids for optimal independence and mobility. Approximately 20% of children with SMA have personal care attendants, who help with transportation, mobility, activities of daily living (hygiene, eating, dressing), and at times respiratory function (inhalations, ventilator, suction, cough assist machine) and night time assistance (e.g., turning in bed).

There is no cure for SMA as yet, but the therapies nusinersen, ⁸ risdiplam, and onasemnogene abeparvovec have shown promising results, both improving motor function and increasing survival.^9,10 All three therapies are approved in the US and in Europe, including Sweden, but availability varies greatly between countries. ¹¹ In Sweden, children with SMA receiving nusinersen, onasemnogene abeparvovec, or risdiplam medication are regularly evaluated by healthcare professionals regarding muscle function, respiratory function, and feeding, with clear losses of function resulting in termination of treatment (nusinersen and risdiplam). Nusinersen is given intrathecally by lumbar puncture, initially every two weeks during a loading phase, then continuously every four months, while risdiplam is an oral medication and can be administered at home. A decision of continuation or discontinuation of disease modifying therapy is made by the Treatment Board for SMA, appointed by the New Therapies Council (NTC). The NTC is a national group of experts whose aim is to enable equal drug treatment for patients and support Swedish county councils in matters regarding new drug therapies. ¹²

Little is known about how families of children with SMA and the healthcare professionals supporting them experienced the COVID-19 pandemic. Only a few studies have focused on families of children with SMA during the COVID-19 pandemic. One study showed that children in single-parent households and those with social issues did not improve in motor function like children in two-parent households. The impact of the lack of support during COVID-19 showed detrimental effects on those already vulnerable. ¹³ In another study including patients, parents, and children with neuromuscular diseases, it was shown that the COVID-19 pandemic had a negative impact on psychosocial health and quality of life. ¹⁴ In the present study, the perceptions of parents and grandparents of children with SMA as to how the COVID-19 pandemic affected their lives, particularly with regard to medication treatment (nusinersen) and habilitation services, were explored. Healthcare professionals’ experiences of meeting children with SMA and their families during the COVID-19 pandemic were also explored in focus group interviews. The views and experiences of parents, grandparents, and professionals contributed to different perspectives and important broad understandings of how the COVID-19 pandemic affected families of children with SMA.

Materials and methods

This article on experiences during the COVID-19 pandemic is part of a larger longitudinal study focusing on the experiences of new medical treatments for children with SMA. Forty-six parents and three grandparents who had previously been part of the longitudinal study were asked to answer closed- and open-ended questions regarding the pandemic. Parents were asked seven closed-ended with four additional open-ended questions and were given the opportunity to add free-text if they wished to elaborate; grandparents were asked three closed-ended and two open-ended questions. The questions in the questionnaire were guided by the study aim and pilot tested among parents with a child with SMA before being sent out nationwide. Questions concerned whether parents and/or their child had experienced COVID-19 (confirmed with a PCR test), as well as if nusinersen treatment and/or care for the child with SMA had been affected by the pandemic, and if so, in what way. Seven of the participating parents (three mothers, four fathers) were randomly selected to take part in a telephone interview in which they were asked if there was anything they would like to add or elaborate on further regarding their life situation or treatment and care during the COVID-19 pandemic. After these seven parents had been contacted by telephone, the decision was made to end the telephone interviews since the conversations were short, the interviewees mentioned similar issues, and more interviews were thus not considered to add any new data. In the focus group interviews with interdisciplinary professional healthcare teams (occupational therapists, physiotherapists, pediatric physicians, registered nurses, assistant nurses), 18 individuals participated with 5–8 participants in each group (16 female, two male) (Table 1).

Table 1.

Descriptive characteristics of participating parents, grandparents, and healthcare professionals in the study.

Variables	Frequency (%)
Child with SMA
Female	16 (57)
Male	12 (43)
Primary diagnosis (type of SMA)
SMA type I (mean age 4 years)	7 (25)
SMA type II (mean age 10 years)	9 (32)
SMA type III (mean age 12 years)	11 (39)
Unknown (not stated)	1 (4)
Parent
Mother	24 (62)
Father	15 (38)
Grandparent
Female	3 (100)
Healthcare professionals
Female	16 (89)
Male	2 (11)
Occupational therapist	3 (17)
Staff manager	2 (11)
Physiotherapist	5 (28)
Physician	2 (11)
Dietician	1 (5)
Registered nurse	3 (17)
Assistant nurse	2 (11)
COVID-19 confirmed with a PCR test
Child with SMA	12 (43)
SMA type I	5 (42)
SMA type II	3 (25)
SMA type III	4 (33)
Parent	9 (23)
Grandparent	0 (0)

SMA: spinal muscular atrophy

The questionnaire data from parents and grandparents was collected at two timepoints in September–October 2021 and March–April 2022. The seven telephone interviews with parents were conducted in April 2022; interviewees were randomly selected from those who had answered the questionnaire as detailed below. Also, focus group interviews with interdisciplinary professional teams at three different sites were conducted in May-June 2022. Focus group interviews were preferred over questionnaires for the professional teams because of the desire to conduct interdisciplinary in-depth discussions on issues the professionals themselves found important. Also, the focus groups allowed for elaborate in-depth conversations on their encounters with children with SMA and their families during the COVID-19 pandemic.

The larger study is a longitudinal population-based survey based on four web-based data collection points held at six-month intervals that included the completion of questionnaires encompassing closed- and open-ended questions, individual interviews with parents, and focus group interviews with healthcare professionals. Children aged 0–18 years with the diagnosis 5q-related SMA who were cared for as in- or outpatients during 2018 in Sweden were identified through the National Board of Health and Welfare and Statistics Sweden. The parents/guardians of these children were identified through the population registry at Statistics Sweden and asked to participate in the study. Once they agreed to take part, participating parents could then choose to invite family members, including their child with SMA, any siblings, and grandparents, to take part in the study. Children with SMA aged 6–18 years and family members were asked to fill out a questionnaire at the first time-point of data collection, as were parents who had lost a child with SMA. The questionnaires at the first time-point did not include specific questions about the COVID-19 pandemic. Excluding children with SMA and parents who had lost their child, those who gave their consent to participate in the first data collection made up the population that was subsequently followed over time. The study was approved by the regional Ethics Review Board in Stockholm, Sweden.

Data analysis

The closed-ended questions from the web-based questionnaire were analyzed using descriptive statistics. Free-text comments and transcripts from the telephone interviews were analyzed with thematic analysis at a manifest “data-driven” level.^15,16 The free-text comments in the questionnaires and transcripts from the telephone interviews were joined into a single text that was then read and discussed by the first and last author. First impressions of the statements regarding life during the COVID-19 pandemic were compared by the two authors. The first author then coded the text, keeping close to the original statements. Some of the free-text comments were short and constituted codes in themselves. The codes were discussed by the first and last author before being clustered together based on similar meaning. From these clusters, themes close to the text emerged. The analysis process and themes were then discussed by all authors, and the analysis was not considered complete until all authors agreed on the results.

Results

Of the 46 parents of 31 children who were eligible to take part in this study (Table 1), 39 parents (24 mothers, 15 fathers) of 28 children (12 males, 16 females) participated in the follow-up web-based data collection points that included questions about the COVID-19 pandemic. Three grandmothers also participated. In total, 152 free-text comments (140 by parents and 12 by grandmothers) were provided in response to the questions on COVID-19.

In the free-text comments and the parental interviews, those who had personal care attendants prior to the pandemic spontaneously expressed that the difficulties they encountered during the pandemic in accessing those services had affected their lives. The themes below show the main concerns that the parents, grandparents, and professionals expressed as illustrated by verbatim quotations from free-text comments in the web-based questionnaire or from the telephone follow-up interviews.

Living in social isolation

All of the free-text comments described how social isolation or restrictions had affected the family's daily life. In 2021, parents’ free-text comments were often related to the worry that they and especially their child with SMA would get infected and that this would lead to respiratory issues. In 2022, infection was seldom mentioned as a concern. By then, 12 children with SMA had been infected with COVID-19 and none of them had been reported as being seriously ill.

For my daughter, covid was like flu but with fever. Two days with fever, more days with a cough. Didn’t lose too much energy. Recovered very fast. (Free-text, parent 15, 2022)

The parents and grandmothers reported that life involved fewer social interactions with friends, limited school attendance for the child with SMA, and changes regarding work and social visits for the whole family. Most reported that their well-being had been affected negatively, e.g., feeling depressed, feeling that their home had become like a prison in which they had locked themselves and their child, feeling that their child with SMA longed for social activities. At the same time, they emphasized that their lives during the COVID-19 pandemic were like those of other families, and that they were grateful for having their family in such difficult times.

Now that we’ve started to drop the toughest restrictions, we’re still suffering from the consequences of the isolation and we [parents] are completely exhausted. Our child is very social and is desperate to start socializing again. (Free-text, parent 5, 2021)

Some parents reported that they had been careful and somewhat socially isolated even before the pandemic due to the risk their child with SMA faced from getting a viral infection (other than COVID-19).

We were careful about bringing home any virus even before COVID. (Free-text, parent 3, 2021)

A few parents felt that the COVID-19 restrictions had increased the understanding of friends and relatives regarding their life of social restrictions, e.g., during times of flu. One parent said the following in a telephone follow-up:

We feel people have more respect and understand our situation more now than before. Before, they didn’t understand our fear of infections, or why we were so careful and didn’t want to socialize if someone had a cough or a cold. Now they do. (Telephone follow-up, parent 6)

Change of routines

Parents and grandmothers reported that school, social activities, care, and nusinersen treatments were all affected by the pandemic to varying degrees. Hydrotherapy was the aspect most often mentioned.

Rehabilitation was cancelled, hydrotherapy was cancelled. (Telephone follow-up, parent 2)

Hydrotherapy was cancelled, which meant missing out on training. (Free-text, parent 16, 2022)

Changes of routine were also described by the healthcare professionals. Wearing face masks meant covering up their facial expressions and smiles, which they felt affected their communication ability, especially with the youngest children. As a consequence of the pandemic, the healthcare team was sometimes short staffed. Only one parent was allowed to accompany the child for hospital visits during the COVID-19 pandemic, which put more strain on both professionals and the family. The pandemic was described as a time of much uncertainty. Even with short notice, planned visits could be cancelled, affecting the whole healthcare team and the planning of care delivery. This was reported as a feeling of stress and waste of time and resources.

Parents reported that their child's physiotherapy, stretching exercises, and other exercises fell on the parents to perform during the pandemic, although parents emphasized that they were satisfied with the habilitation.

Now there is even more responsibility on us parents to make sure that all the physiotherapy are performed. Another change is that only one parent is allowed to come along when our child receives nusinersen treatment. It's doable, but it's harder. Before, we tried to always do something fun when we were there, so that our child wouldn’t connect treatment with feeling awful, but now that's just not possible. (Telephone follow-up, parent 1)

One parent explained how physiotherapy was performed via telehealth during the pandemic instead of face-to-face, with the staff showing them on screen how to perform the exercises the child would normally do at the habilitation center.

We now only get instructions for the exercises on screen, where the staff members show us and then we do them at home. (Telephone follow-up, parent 4)

One parent mentioned that their child received intrathecal nusinersen therapy at a different hospital and in a different city during the pandemic than before. In the telephone follow-up, another parent described that she had decided to let her child attend school and socialize with friends, thereby following the general restrictions that all children at school faced, despite the possible higher risks to her child, because they had never had any respiratory effects from SMA. This parent emphasized that she understood and felt empathy for other parents who worried that their child's respiratory issues would worsen if they were to contract COVID-19.

Limited access to assistance

For those in need of personal care attendants, the limited access to helpers due to the pandemic, affected their quality of life, leading to consequences for the family when having to adjust their life. For example, some parents had to quit their regular work, as staff from habilitation services and personal care attendants were reported as being affected. If the child still had access to personal care attendants during the pandemic, parents and grandmothers described that staff were on sick leave much of the time.

Personal care attendants cancelled if they had even the slightest symptom, or if they [the personal care attendants] had met anyone with symptoms, they were often on sick leave. (Free-text comment, parent 7, 2021)

It was also reported that the restrictions to social life, including fewer personal care attendants at home, also had positive consequences since the risk of getting a viral infection decreased.

The ethical dilemma of assessment

Although yearly assessment for nusinersen treatment was required before the COVID-19 pandemic, healthcare professionals spontaneously raised the issue of this yearly assessment in their focus groups. They reported that, to their knowledge, this assessment was a unique requirement for receiving medication treatment (nusinersen). The professionals reported that much of their work continued as usual despite the COVID-19 pandemic. Yet, their role did change. Their jobs came to focus more on assessment. As assessors, they were increasingly worried about making the right assessment. Therefore, their stress levels increased, since continued treatment in Sweden depends on stability of motor functions demonstrated at these yearly assessments. They found this role ethically problematic and discussed whether patients suffering from any other medical condition had to be tested on a yearly basis and score appropriately in order to gain access to a treatment like nusinersen. They found the parents very prepared, engaged, and knowledgeable when the assessment took place. For example, the parents knew what their child needed to score in order to keep their nusinersen treatments. The healthcare professionals felt deeply for the children and parents and, as professionals, they stated that it was in their hearts to provide care, not to perform protocol assessments that could form the basis for a life-changing decision regarding future treatment. The stress connected with nusinersen assessments became even more challenging during the COVID-19 pandemic because families had most of the responsibility for training and habilitation. The healthcare professionals sometimes felt as if they were assessing parental efforts. Professionals said they were never alone in the assessment. There were always several of them making the assessments and supporting one another to make sure there was a team behind every score.

I want the families to feel that we are on the same side, not against each other. We find the situation very difficult and discuss hypothetical cases a lot. (Focus group 3, 2022)

Discussion

The findings in this study showed that none of the children with SMA who were infected with COVID-19 became seriously ill. Twelve tested positive for COVID-19 and so did nine of the parents in this study. Findings also showed that the daily lives of parents and grandmothers of children with SMA were affected by the pandemic, similar to all other families during this time. Although no comparison between groups was performed (mothers vs. fathers, or parents vs. grandparents), no obvious differences were found. The most prominent changes related to the families’ social life and the children's access to care (e.g., physiotherapy, personal care attendants), which had an impact on quality of life for entire families. Although not all families depended on personal care attendants, for those who did, the consequences were profound. Another consequence of the pandemic was the change in parents’ work patterns and social life, which affected all family members. The pandemic also had an impact on where the children received nusinersen treatment.

Healthcare professionals’ experiences

For healthcare professionals, the biggest impact of the COVID-19 pandemic was on their ability to communicate with the youngest children because of their use of face masks. Otherwise, they felt that they, and the children and parents they met, handled the restrictions well. Most of the clinical work continued as usual. They found it ethically challenging that much of their time was given to the yearly assessments, which are required as the child has to show progress or steady state in performance to continue with medication treatment (nusinersen). This procedure became somewhat more tense than prior to the pandemic since parents carried out much of the responsibility themselves for their child's mobilization training during the pandemic. This put pressure on the family and on the healthcare professionals who felt they were pushing the child with SMA to do their absolute utmost so that treatment would not be withdrawn. Due to this, health professionals perceived that the overall focus shifted away from child-centered care and support and working together with families towards an emphasis on assessing the child's physical achievements. They found it problematic and unfair that children with SMA, unlike any other group of patients, were expected to perform well in order to continue to receive medical treatment. This feeling became more profound under the circumstances of the COVID-19 pandemic because it changed families’ ordinary lives. Working together as a close team, however, was mentioned as an important counterweight to this. Each healthcare professional felt less responsible as an individual.

Parents’ reports

The pandemic may have impacted the lives of everyone, but some were more vulnerable than others. Some of the parents in this study reported that they had been forced to take a leave of absence from their job to become their child's personal care attendants, both because of a shortage of personal care attendants and in some cases also out of fear of infection. Similar findings have been reported in a Danish study by Handberg et al., ¹⁴ who found that around half of the participating parents opted out of receiving personal care attendants for their child from individuals other than family members during the pandemic because of the risk of infection. According to Handberg et al., ¹⁴ this fear was particularly common in parents of neurologically ill children, as compared with relatives of neurologically ill adults. Families dependent on personal care attendants were particularly vulnerable. Authorities could decide to withdraw personal care attendants against a family's will, which affected all family members. In a study by Kreicbergs, Nilsson, Jenholt Nolbris, and Lövgren (unpublished data), siblings of severely ill children described how their whole lives changed in a second when the right to personal care attendants was taken away.

Many children in this study were receiving regular intrathecal nusinersen injections and physiotherapy, which parents described as being affected by the pandemic. For instance, some got a new medical team for nusinersen treatment or met with their physiotherapist online rather than face-to-face. In the current study, parents were grateful that physiotherapy was not cancelled and that a strategy could be found despite the pandemic. However, results showed that more pressure was put on parents to continue their child's physiotherapy and stretching exercises and keep motivation up, although they did sometimes have online support from the habilitation team. Similarly, in a study of Danish parents of children with SMA, a majority reported that their child's physiotherapy was impacted by the pandemic. ¹⁴ According to Agosto et al., ¹³ who assessed the clinical and social issues from a delay in medication treatment of nusinersen during the pandemic, 40% of the parents reported feeling anxious due to the suspension of physiotherapy. The need to continue training puts pressure on the parents of children treated with nusinersen. The increased pressure on parents to ensure continued nusinersen treatments could cause them to decide to stop going to their regular job and instead become a personal care attendant for their child, taking responsibility for their child's physiotherapy to maintain or increase their strength. They experienced a lack of social interaction as a result. This was overwhelming for some parents who reported feeling depressed. Findings in the current study are similar to other studies of parents of children with respiratory impairment ¹⁷ or serious illness ¹⁸ : they are at greater risk of psychological fatigue and emotional distress. In addition to the stressors related to COVID-19, they are also under pressure related to their child's situation. Similar to Oude Lansink et al., ¹⁹ results in the current study showed that parents’ experiences differed and changed between periods of the pandemic. Not all parents found the pandemic difficult, although some did, e.g., those dependent on personal care attendants. It may now be valuable to reach out to families of severely ill children to find out how they coped with the consequences of the COVID-19 pandemic and offer further support if needed. This is especially important to consider for children with SMA in families who have a poor social context^19,20 and who are even more dependent on the personal care attendants, social care, and support that was so deeply affected by the COVID-19 pandemic.

Methodological considerations

The web-based questionnaire was designed especially for the larger study of parents of children with SMA. The questions related to the COVID-19 pandemic that were used in the current study were, for natural reasons, added later, when the pandemic had started. These additions did also receive ethical approval. Telephone follow-up interviews were conducted because the social restrictions implemented due to the COVID-19 pandemic prevented face-to-face meetings. It is possible that the follow-up could have yielded richer data if meetings had been conducted face-to-face. However, the follow-up sessions enabled the parents to elaborate on their questionnaire answers and free-text comments.

A limitation of this study is that no data was collected on poverty or other social apsects, and the number of single-parent households was too small to draw any conclusions from. Therefore, any patterns related to these factors could not be explored further in this sample.

A strength of this study is the inclusion of professional perspectives alongside those of family members. To the authors’ knowledge, healthcare professionals’ experiences of care for children with SMA during the COVID-19 pandemic has not previously been explored.

Conclusion

In summary, it has been found that few children with SMA in Sweden tested positive for COVID-19, and of those who did, none became severely ill or suffered much by the infection. Yet, family life changed. Parents reported a heavy burden, as much of the responsibility of the child's needs fell on them. For healthcare professionals, their work continued much as usual. Yet they too reported a change in their role to becoming more of an assessor; they faced the ethical dilemma of having to score children's performance and carry out the right assessment in terms of the child's medication treatment (nusinersen). Given the results showing how families and healthcare professionals were affected by the COVID-19 pandemic, it may be of value to find ways for healthcare professionals to get together, support one another, and discuss their role as assessors. It might also be useful to find out how each family coped with the consequences of the COVID-19 pandemic and offer further support if needed.