Parents’ advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups

Abstract

Being a parent of a child with spinal muscular atrophy (SMA), a disease that causes progressive muscle weakness, involves a range of challenges. The purpose of this study was to explore what advice parents of children with severe SMA, in absence of effective therapies, would like to give to other parents. This study derives from two nationwide parental surveys in Sweden and Denmark, where content analysis was used to analyse one open-ended question about parents’ advice to other parents. Ninety-five parents (parents of children diagnosed with SMA type 1 or 2, for whom respiratory support was considered during first year of life) participated (response rate: 84%). Of these 95 parents, 81 gave written advice to other parents. Advice covered coping with everyday life with the ill child, existential issues of living with and losing a child with SMA and involvement in care of the child. Parents highlighted leading normal lives insofar as possible, for example, trying to see healthy aspects in their child, not only focusing on care and treatment. Shared advice can be related to resilience strategies to parents, which can help healthcare professionals and others to support parents in similar situations.

Keywords

Spinal muscular atrophies of childhood parents neuromuscular diseases palliative care

Introduction

Spinal muscular atrophy (SMA) is a rare disorder leading to progressive muscle weakness. It is autosomal recessive with an incidence of about one in 11,000 live births (Sugarman et al., 2012). SMA is usually classified into three main phenotypes: SMA types 1, 2 and 3 (Lunn and Wang, 2008). Without supportive interventions, SMA type 1 implies a median survival of less than 2 years, while survival for type 2 is over 25 years, and those with type 3 typically have a normal lifespan (Arnold et al., 2015). However, the phenotype spectrum of SMA represents a continuum with borderline type 1 or 2, and although respiratory complications are typical in SMA type 1, this can also be an early complication in weak children with SMA type 2. Management of SMA has until recently focused exclusively on improving quality of life through respiratory and nutritional assistance and orthopaedic/rehabilitation management – interventions that can prolong life by several years (Arnold et al., 2015; Wang et al., 2007). Lately, new therapies (nusinersen and onasemnogene abeparvovec-xioi) that increase muscular strength and prolong life have become available in several countries (Al-Zaidy et al., 2019; Finkel et al., 2017; Mercuri et al., 2018a).

Parents of children with SMA have described receiving the diagnosis as a crisis (Higgs et al., 2016; Lawton et al., 2015; Qian et al., 2015; Rallison and Raffin-Bouchal, 2013). The diagnosis has been described as being given both in a considerate manner (Lövgren et al., 2016) and not (Murrell et al., 2017). Parents have described feelings of incredulity and shock at the time of diagnosis, followed by anticipatory grief from the time of diagnosis and continued grief throughout their children’s lives and after their deaths (Higgs et al., 2016; Mah et al., 2008; Rallison and Raffin-Bouchal, 2013). Further, emotional ambiguities – feelings of both joy and love and grief and sorrow – and a hope for their child to live with as high a quality of life as possible have been described (Higgs et al., 2016; Rallison and Raffin-Bouchal, 2013). Yang et al. (2016) described in their study, which was conducted before the new drugs became available, how parents of children with SMA were forced to face the dilemma of SMA, where growing up was linked to the risk of early death.

Parents have described problems with healthcare professionals’ lack of knowledge (Lawton et al., 2015; Qian et al., 2015; Rallison and Raffin-Bouchal, 2013) and coordination of care (Hjorth et al., 2019; Murrell et al., 2018). A close collaboration between parents and professionals has by parents been suggested as suitable to achieve good care of the child (Murrell et al., 2018). However, healthcare professionals from their perspective perceive ethical dilemmas, and views of how to best care for children with SMA may diverge (Geller et al., 2012).

With introduction of new therapies that prolong survival and, to a large extent, affect quality of life in both patients and families, the landscape of SMA has changed dramatically (Farrar et al., 2020). However, although these therapies are effective in inhibiting disease progression and for many children result in functional improvement, the treatment is not curative, and some children do not improve as much as hoped (Pane et al., 2018). Furthermore, the new therapies are not available in all countries or to all patients, and some stop treatment because of low treatment results or side effects of the procedures (Pane et al., 2021). This implies that some children with SMA still follow the ‘natural history’ of SMA. Knowledge of parents’ experiences of living with a child with SMA with respiratory complications is therefore still important. Advice from parents of a child with SMA to other parents would contribute with knowledge about important things to focus on when caring for a child with SMA. It would also supply knowledge about what other parents in similar situations and healthcare professionals should focus on when caring for a child with SMA.

Aim

The aim of this study was to explore what advice parents of children with severe SMA would give to other parents of children with SMA.

Materials and methods

Study design

The study was based on nationwide surveys conducted in Sweden and Denmark, focusing on parental experiences of the care of a child with severe SMA (Hjorth et al., 2018, 2019; Lövgren, 2016a, 2016b).

The study, which had a cross-sectional design, was initiated in Sweden and continued in Denmark.

Study population

The sample encompassed both bereaved and non-bereaved parents of children with severe SMA. The children were born in 2000–2010 (Sweden) and 2003–2013 (Denmark). To be included in the study, a child had to be diagnosed with SMA type 1 or 2. Further, respiratory support had to have been considered by healthcare professionals during the child’s first year of life. In Sweden, children and parents were identified through the comprehensive registers maintained by the National Board of Health and Welfare and the Swedish Tax Agency, respectively. In Denmark, children were identified through the National Patient Register and/or the Cause of Death Register and/or at the National Rehabilitation Centre for Neuromuscular Diseases, while parents’ names and addresses were obtained through the Civil Registration System. In both countries, the parents had to have an identifiable phone number to be included.

The Swedish survey was approved by the regional ethical review board in Stockholm (reference number: 2009/1702-31/2), and the Danish survey by Danish Health Authority (FSEID-00001091) and the Danish Data Protection Agency (ref. no: 2013-41-2504). All participants were informed about the study aims, that participation was voluntary, and how the collected data would be used.

Measurements

Study-specific questionnaires

For the survey, study-specific questionnaires were developed using the methods of Charlton (Charlton, 2000) and others (Kreicbergs et al., 2004a, 2004b; Omérov et al., 2018). As a first step, interviews were conducted with bereaved and non-bereaved parents of children with SMA. Based on these interviews and in cooperation with staff from a paediatric neurology clinic and a municipal rehabilitation centre in Sweden, questionnaires were developed. The questionnaires were validated through face-to-face interviews with Swedish parents of children with SMA born before 2000 or after 2010 (n = 5). Minor changes were made based on the parents’ comments. One questionnaire was developed for bereaved parents and another for non-bereaved parents. The questions were similar, with additional questions to bereaved parents about loss of their child. Two years later, the Swedish questionnaires were translated into Danish and slightly adapted to Danish conditions. In this study, one open-ended question from the surveys was used: ‘What advice would you give to other parents of children with spinal muscular atrophy?’

Data collection

Written information about the study was sent to eligible parents (70 parents of 39 children in Sweden (February 2013) and 43 parents of 22 children in Denmark (April/May 2015)). A few days later, the parents were contacted by phone by a research assistant and asked if they would like to participate in the study. If so, questionnaires were posted to the parents. As parents in a couple may have different experiences and opinions, questionnaires were sent to fathers and mothers separately. About 1 month later, a thank you card/reminder was sent to those who had agreed to participate but had not responded. Parents in Sweden who had not responded were also contacted by phone and asked if they had any concerns or needed assistance in completing the questionnaire.

Data analysis

The responses to the open-ended question were analysed using content analysis (Krippendorff, 2004). As a first step, advice from Danish parents was translated from Danish into Swedish by the first author. To validate the translations, TS, who is bilingual, reviewed them. All the statements were thereafter read through by the first, second and last author, to gather an overview. The statements were then divided into meaning units. Statements containing more than one type of advice were split and divided into different meaning units. After that, the meaning units were coded based on similarity in content. Then, the different codes were compared and merged with similar codes into categories and sub-categories. No code was excluded or sorted into more than one category. Each step was critically reviewed and discussed until consensus was reached within the research group. Chi-square tests were used to examine differences between groups.

Results

Demographic characteristics

In total, 95 parents of 60 children participated in the survey (response rate: 84%). Eighty-one of the 95 parents answered the open-ended question about advice to other parents (85%). Fifty-two of them lived in Sweden and 29 in Denmark (Figure 1).

Figure 1.

Participation rate and number of participants answering the question about advice to other parents.

Fifty-nine/81 parents were bereaved and 22/81 parents had a child still living (Figure 1). The children who were alive at time of data collection were on average 9 years old, while the deceased children were on average 8 months at time of death (Table 1). No statistically significant differences in characteristics of the parents (bereaved/non-bereaved, age, living in lager city or not and child SMA type 1 or 2) were found between those who answered the question (n = 81) about advice and those who did not (n = 14).

Table 1.

Characteristics of the participating parents and their children with SMA.

	Total number of parents, N = 81 (%)	Parents in the Danish sample, n = 29 (%)	Parents in the Swedish sample, n = 52 (%)
Bereaved/Non-bereaved
Bereaved	59 (72.8)	19 (65.5)	40 (76.9)
Non-bereaved	22 (27.2)	10 (34.5)	12 (23.1)
Sex of parent
Female	44 (54.3)	17 (58.6)	27 (51.9)
Male	37 (45.7)	12 (41.4)	25 (48.1)
Age of parent
Median (IQR)	39 (5.57.8)	39 (9)	39 (7.5)
Missing	1	0	1
Marital status at time of child’s diagnosis
Married or living with the child’s other parent	78 (96.3)	26 (89.7)	52 (100)
Single or without a partner	2 (2.5)	2 (6.9)	0 (0.0
Married or living with another partner	1 (1.2)	1 (3.4)	0 (0.0)
Parent’s level of education
Elementary school	7 (8.6)	4 (13.8)	3 (5.8)
Senior high school	30 (37.0)	6 (20.7)	24 (46.2)
University	43 (53.1)	19 (65.5)	24 (46.2)
Missing	1 (1.2)	0 (0.0)	1 (1.9)
Place of residence
In the countryside/in a small town	40 (49.4)	21 (72.4)	19 (36.5)
In a medium-sized town (50,000–100,000 inhabitants)	9 (11.1)	1 (3.4)	8 (15.4)
In a big city (100,000 inhabitants or more)	30 (37.0)	6 (20.7)	24 (46.2)
Missing	2 (2.5)	1 (3.4)	1 (1.9)
Child’s age at diagnosis (months)
Median (IQR)	3 (4)	4 (8)	3 (4)
Number of parents of deceased children at time of data collection	n = 59 (%)	n = 19 (%)	n = 40 (%)
Child’s diagnosis
SMA type 1	55 (93.2)	16 (84.2)	39 (97.5)
SMA type 2	3 (5.1)	2 (10.5)	1 (2.5)
SMA type 1 or 2	1 (1.7)	1 (5.3)	0 (0.0)
Child’s age at time of death (months)
Median (IQR)	8 (9)	6 (8)	8 (9.6)
Number of parents of living children at time of data collection	n = 22 (%)	n = 10 (%)	n = 12 (%)
Child’s diagnosis
SMA type 1	8 (36.4)	1 (10.0) *	7 (58.3) *
SMA type 2	13 (59.1)	9 (90.0) *	4 (33.3) *
SMA type 1 or 2	1 (4.5)	0 (0.0)	1 (8.3)
Child’s age at time of data collection (years)
Median (IQR)	9 (5.5)	6 (4)	9 (1)
Respiratory support or special treatment for the child’s respiration^a
No, no breathing assistance	10 (12.3)	3 (10.3)	7 (13.5)
Yes, CPAP	24 (29.6)	16 (55.2)	8 (15.4)
Yes, ventilator by mask (BIPAP)	20 (24.7)	1 (3.4) **	19 (36.5) **
Yes, respiratory aid with tube in airways	8 (9.9)	2 (6.9)	6 (11.5)
Yes, ventilator by tracheostomy	4 (4.9)	4 (13.8)**	0 (0.0)**
Yes, extra oxygen through nostril or mask	12 (14.8)	2 (6.9)	10 (19.2)
Other (inhalation therapy)	1 (1.2)	0 (0.0)	1 (1.9)
Missing	2 (2.5)	1 (3.4)	1 (1.9)

Note: SMA: spinal muscular atrophy; IQR: interquartile range; BIPAP: bilevel positive airway pressure; CPAP: continuous positive airway pressure therapy.

^aThe most invasive respiratory support is reported (the child could also have received other types of invasive respiratory support). * p < 0.05. ** p < 0.001 (differences between Denmark and Sweden).

Advice from parents to other parents

In all, the 81 parents gave 318 pieces of advice to other parents. Seventy-one parents (88%) gave more than one piece of advice each. The different pieces of advice were sorted into three main categories and six sub-categories (Table 2). The category that most parents addressed was Coping with everyday life, which was divided in two sub-categories: Social support and Family life. The next category of advice related to Existential issues also divided into two sub-categories: Meaning making and Loss and grief. Lastly, advice related to the category Participation in care of the child was divided into two sub-categories: Involvement in care and relationships with professionals and Parental knowledge about the disease. The three categories with their six sub-categories are presented below.

Table 2.

Categories, sub-categories and examples of advice from parents to peers.

	Number of parents who offered at least one piece of advice (%)^a	Number of pieces of advice (%)
Categories and examples of statements	Total N = 81	Total n = 318
Coping with everyday life	53 (65%)	117 (37%)
Social support	44 (54%)	54
Being in touch with other families in the same situation is priceless. Don’t hesitate to contact them
Non-bereaved parent from Sweden (SMA type 1)
Talk to a counsellor, it is incredibly helpful. Talk about the disease with your relatives, mother, father, siblings, etc.
Bereaved parent from Sweden (SMA type 1)
Family life	39 (48%)	63
Treatment isn’t everything. You also have a life to live where you don’t think about muscular diseases all the time
Non-bereaved parent from Denmark (SMA type 2)
Make sure you have someone who helps you with practical matters (cooking, cleaning, etc.) – or plan ahead and make food for several days at once
Bereaved parent from Denmark (SMA type 1)
Existential issues	42 (52%)	67 (21%)
Meaning making	37 (46%)	38
Live with it. We can’t change it. Make a good, positive life for yourself
Non-bereaved parent from Denmark (SMA type 2)
Make the most of each day. Enjoy your child!
Bereaved parent from Sweden (SMA type 1)
Loss and grief	21 (26%)	29
Save things, clothes, etc. as keepsakes. Make videos with your child. Write about what it was like, what happened, what you did, etc. when the child has passed away. You forget things so quickly
Bereaved parent from Sweden (SMA type 1)
It might sound chipper, but you will survive and you can have a good life afterwards (as well as during)
Bereaved parent from Sweden (SMA type 1)
Participation in care of the child	39 (48%)	134 (42%)
Parental involvement in care and relationships with professionals	30 (37%)	105
Be your child’s ambassador and do your best to fight the battles that can arise with the healthcare system
Bereaved parent from Denmark (SMA type 1)
Make a plan based on the difficult decisions that you must make under the relentless circumstances
Bereaved parent from Denmark (SMA type 1)
Parental knowledge about the disease	21 (26%)	29
Learn about the disease and how treatment works. The more of the treatment that you can perform, the safer your child will feel
Bereaved parent from Sweden (SMA type 1)
Ask questions! Don’t be afraid of asking the same thing several times
Non-bereaved parent from Denmark (SMA type 2)

Note: SMA, spinal muscular atrophy.

^aSummation of percentages will exceed 100 as some parents gave advice related to more than one category.

Coping with everyday life

Fifty-three parents (65%) gave 117 different pieces of advice on how to cope with everyday life, divided into two sub-categories: Social support and Family life.

Social support

Forty-four (54%) parents gave 54 pieces of advice about getting and asking for social support. Half of the statements in this sub-category (n = 27) related to getting support from other parents with experiences of living with or losing a child with SMA. Other advice related to sharing deep feelings with those closest to them, though it was hard, and possibly getting support from a psychologist (n = 14). Some advice related to the value of including friends and relatives in the journey, sharing both joy and sadness, but parents also emphasized that it was okay to refuse visits if it became too much (n = 12). One parent recommended appointing one close person to help keep other friends and relatives updated on the situation.

Family life

Within this sub-category, 39 parents (48%) gave 63 pieces of advice. Many pieces of advice related to leading as normal lives as possible despite the child’s severe disease, for example, trying to see the healthy aspects in the child and not focusing only on care and treatment (n = 15). Parents encouraged other parents to be at home as much as possible as this facilitated for the whole family to live normally (n = 12). This applied also to situations when the child was very poorly and receiving special medical care at home. Several pieces of advice were related to making sure to get and ask for help with practical things (n = 12) and not forgetting to rest (n = 1). Parents advised remembering to take care of everyone in the family, including the child’s siblings (n = 8), and to keep their strong feelings in check in front of the children (n = 4). Other advice was associated with the importance of helping the child play (n = 6) and be creative in order to find suitable aids for him/her (n = 4). One piece of advice, from a non-bereaved parent, was to raise the child to become well-behaved and as independent as possible, in case she/he would later get a personal care assistant.

Existential issues

Forty-two parents (52%) gave 67 different pieces of advice related to existential issues. Advice related to existential issues was sorted into two sub-categories: Meaning making and Loss and grief.

Meaning making

Thirty-seven parents (46%) gave 38 pieces of advice related to meaning making when living with a child with SMA. As life with a severe disease can be short, two-thirds of the statements in this sub-category related to valuing everyday life with the child, for example, spending time with the child and enjoying the good moments (n = 25). Some advice, mainly from bereaved parents, related to acceptance: finding a way to accept the situation and make the best of it (n = 11). Another piece of advice was to trust that everything would be okay (n = 1) and one bereaved parent emphasized humour as helpful in coping with difficult situations.

Loss and grief

Twenty-one bereaved parents (26%) gave 29 pieces of advice associated with grief and loss of the child. Some advice encouraged other parents to give as much love, time and closeness to the child as possible, something that the parents said could limit later regrets (n = 14). Other advice related to creating memories with the child, for example, taking photos of the whole family, making foot- and handprints and writing a diary – this was described as a way to remember and later lessen grief (n = 8). Some advice on how to cope with the loss was mourning together with the other parent, daring to have more children, reading poems (n = 6) and a reminder that it is okay to feel relieved when the time comes for the child to die (n = 1).

Participation in care of the child

Thirty-nine parents (48%) gave 134 different pieces of advice about participation in care of the child, and the category was divided into two sub-categories which are presented below: Involvement in care and relationships with professionals and Parental knowledge about the illness.

Involvement in care and relationships with professionals

Thirty parents (37%) gave 105 pieces of advice related to own involvement in care and treatment decisions and relationships with professionals. A quarter of the advice (n = 29) in this sub-category related to medical and nursing counselling to reduce the child’s suffering, for example, having a higher temperature in the room because heat helps the muscles relax, or always having a prescription for antibiotics ready. Three quarters of the advice relating to medical and nursing counselling was given by one parent dyad (n = 22).

Parents encouraged other parents to make their own decisions regarding their child’s care and rely on the child’s ability to guide treatment decisions (n = 16). Other advice related to treatment decisions was to think things through in advance (n = 4), to be clear with staff about your wishes (n = 3) and to stick to your decisions (n = 2). Danish parents in particular gave advice regarding utilizing existing competence among professionals (n = 8). Generally, parents emphasized the importance of having a good relationship and collaboration with professional caregivers (n = 7), while some stressed that you as a parent must fight for the child’s best interests, and in some cases not hesitate to make demands and critically question the care (n = 25). Always prioritizing what was best for the child, for example, prioritizing life quality over long lifespan, was highlighted by some parents (n = 4).

Parents recommended taking an active role in care of the child, for example, by always asking for and reading the medical records (n = 5). One parent dyad gave advice to limit the number of staff in contact with the child, to reduce the infection risk and maintain continuity in care (n = 2).

Parental knowledge about the disease

Twenty-one parents (26%) gave 29 pieces of advice related to parental knowledge about the disease. Half of the advice (n = 15) was associated with learning about and searching for information on the disease and its consequences, but some advice also mentioned being critical and not blindly trusting everything professionals say or information found on the internet (n = 6). Parents encouraged asking questions, preferably posing the same question to many different persons, as the answer might be explained in different ways (n = 7). Another suggestion was to not ask for all the information about the child’s potential future at once but get it little by little (n = 1).

Discussion

This study gathered advice from parents of children with a severe form of SMA, without access to new effective therapies (nusinersen or onasemnogene abeparvovec-xioi), to other parents in the same situation. The advice, collected through nationwide surveys in Sweden and Denmark, covered how to cope with everyday life with the ill child, involvement in care of the child and existential issues when living with and losing a child with SMA. Despite most parents in the study being bereaved, only a minority of the advice related to the time after the child’s death. Instead, most advice related to coping with living with a child with SMA.

Emphasis on having good relationships with professionals and having knowledge about the disease has been shown in previous studies of advice from parents to healthcare professionals (Hjorth et al., 2018; Steele et al., 2013). However, unlike in those studies, which related to delivering care quality, the advice in this study related more to coping with living with an ill child. The suggestions to do everything for the child, so as not to have any regrets, have good social support and cherish valuable moments with the child, have previously been mentioned by Thompson et al. (2011) in their study of bereaved parents’ and siblings’ advice to other parents and siblings. Interestingly, unlike in previous studies of advice to other parents and studies of parents of severely ill children, the parents in our study rarely gave advice concerning religion (n = 2) (Thompson et al., 2011; Walsh, 2016) or the importance of financial security (Qian et al., 2015; Lazzarin et al., 2018; Rallison and Raffin-Bouchal, 2013; Walsh, 2016). This might be explained by the fact that Sweden and Denmark are secularized welfare countries (Bäckström, 2014), meaning that most health care for children with SMA is public – controlled and subsidized by the state, counties and municipalities.

Many parents gave advice related to being involved in treatment decisions, which may be explained by SMA being progressive; treatment decisions always lie ahead, and treatment varies for each child and his/her parents (Finkel et al., 2018; Mercuri et al., 2018b). A wish to be involved in treatment decisions was highlighted, something that also has been shown in previous studies of parents of children with SMA (Higgs et al., 2016; Mah et al., 2008).

In accordance with the results in this study, the following strategies have previously been highlighted to increase empowerment in parents of children with SMA and other chronic diseases: sufficient own knowledge about one’s child’s disease (Higgs et al., 2016; Hinton and Kirk, 2017; Smith et al., 2013), good relationships with health professionals (Mah et al., 2008; Smith et al., 2013), access to support networks (Higgs et al., 2016; Mah et al., 2008; Smith et al., 2013) and an ability to think optimistically (Hinton and Kirk, 2017). Many of these factors are also included in a family-centred care model, which serves to empower the parents, for example, by professionals collaborating with the parents, seeing the parents as experts on their own needs, and providing socioemotional support, including family-to-family support (Coyne et al., 2018). Further, some advice was consistent with dimensions in Walsh’s model of family resilience, that empower and give resilience to families in difficult life situations (Walsh, 2016). In line with Walsh’s model, parents in this study advised actively striving to give the child the best life possible, emphasized the importance of supporting each other and advocated daring to hope for a good future. The advice in this study can represent a way for parents to convey their own successful resilience strategies to other parents.

One difference between Swedish and Danish parents in this study was that Danish parents gave advice on utilizing professional expertise – in Denmark, there is a national competence centre for neuromuscular diseases, which has no equivalent in Sweden. Parents’ satisfaction with this centre has previously been shown (Blinded, 2019).

Strengths and limitations

This is, to our knowledge, the first two-nationwide survey among parents of children with SMA, providing a relatively large sample despite the disease’s rarity. Further, the high response rate of 84% indicates that the design was appreciated by the parents.

Lately, therapies have shown potential to change the course of SMA, with prolonged survival (Al-Zaidy et al., 2019; Finkel et al., 2017; Mercuri et al., 2018a; Pane et al., 2018). As this study was conducted before new therapies were available, the results might not be directly transferable to families of children with SMA who receive new therapies. Currently, the long-term effects of the new therapies are still uncertain, and a detailed picture of how the landscape has been changed for treated children and their families is unavailable. This study contributes with a knowledge base regarding everyday life with a child with severe SMA without effective treatment, knowledge that is important for future studies of children receiving effective therapy.

Due to different national regulations worldwide, not all children will have access to the new therapies. For children with SMA, the new treatment is not curative but can modify the course of the disease. Many children will – despite medical treatment – still have a significant impact on their level of muscular function. Advice highlighted by the parents in this study will therefore still be relevant for some families. The strategies found in this study could also be of value for families who do not have such access and their healthcare professionals. Further, we believe that our findings may also be useful for families living with life-limiting diseases other than SMA.

Bereaved persons are vulnerable, and special considerations must be taken in research involving such persons. There is growing evidence that participation in research is not necessarily distressing for bereaved family members, as it can also be experienced as something positive (Higgs et al., 2016; Kreicbergs et al., 2004a, 2004b), not just for altruistic reasons but also as a personally therapeutic experience. The high response rate (84%) in the study may reflect the parents’ willingness to participate in research. In their written responses in the questionnaire, many parents expressed their appreciation at being acknowledged and asked about the care of their child with SMA.

Implications for practice

This study provides concrete suggestions for family support from the families’ own perspectives. The results of the study contribute with the participants’ own successful resilience strategies for living with a child with SMA, strategies that can be conveyed to other families in similar situations. The advice given can serve as important tips for both healthcare professionals and civil society organizations that support families with SMA and friends and families affected by SMA. The results can also contribute to creating an understanding of parents’ experiences of everyday life, something that is important when developing new interventions aiming to support families.

Conclusion

The advice from parents of children with severe SMA to other parents highlighted how to facilitate everyday life by trying to live as normal lives as possible with the rest of the family and to accept and receiving support from others. Parents also recommended others in similar situation to be active in the care of their child and to be present with the child – something they said could limit later regrets. Such pieces of advice can be seen as resilience strategies for parents living with a severely ill child. Healthcare professionals may learn from these strategies and guide and support parents in their journeys.

Footnotes

Acknowledgements

The authors wish to thank the parents who participated in the study and Christina Renlund for her valuable work with development of surveys.

Declaration of Conflicting Interests

The author(s) declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article.

Funding

This work was supported by Gålö Foundation, the Freja donation and Muskelsvindfonden. The funders have not been involved in the study.

Ethical Approval

The Swedish survey was approved by the regional ethical review board in Stockholm (reference number: 2009/1702-31/2) and the Danish survey by Danish Health Authority (FSEID-00001091) and the Danish Data Protection Agency (ref. no.: 2013-41–2504).

ORCID iD

Elin Hjorth

References

Al-Zaidy

Kolb

Lowes

, et al. (2019). AVXS-101 (Onasemnogene Abeparvovec) for SMA1: comparative study with a prospective natural history cohort. Journal of Neuromuscular Diseases 6(3): 307–317. DOI: 10.3233/JND-190403.

Arnold

Kassar

Kissel

(2015) Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle & Nerve 51(2): 157–167.

Bäckström

(2014) Religion i de nordiska länderna: Mellan det privata och det offentliga. In: Pettersson

Axner

Leis-Peters

, et al. (eds) Religiös och social förändring i det glokala samhället. Uppsala: Acta Universitatis Upsaliensis.

Charlton

(2000) Research: is an 'ideal' questionnaire possible? International Journal of Clinical Practice 54: 356–359.

Coyne

Holmström

Söderbäck

(2018) Centeredness in healthcare: a concept synthesis of family-centered care, person-centered care and child-centered care. Journal of Pediatric Nursing 42: 45–56. DOI: 10.1016/j.pedn.2018.07.001.

Farrar

Carey

Paguinto

S-G

, et al. (2020) “The whole game is changing and you’ve got hope”: Australian perspectives on treatment decision making in spinal muscular atrophy. The Patient-Patient-Centered Outcomes Research 13: 389–400.

Finkel

Mercuri

Darras

, et al. (2017). Nusinersen versus Sham control in infantile-onset spinal muscular atrophy. The New England Journal of Medicine 377(18): 1723–1732. DOI: 10.1056/NEJMoa1702752.

Finkel

Mercuri

Meyer

, et al. (2018). Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders 28(3): 197–207.

Geller

Harrison

Rushton

(2012) Ethical challenges in the care of children and families affected by life-limiting neuromuscular diseases. Journal of Developmental & Behavioral Pediatrics 33: 548–561.

10.

Higgs

McClaren

Sahhar

, et al. (2016) 'A short time but a lovely little short time': bereaved parents' experiences of having a child with spinal muscular atrophy type 1. Journal of Paediatrics and Child Health 52(1): 40–46. DOI: 10.1111/jpc.12993.

11.

Hinton

Kirk

(2017) Living with uncertainty and hope: a qualitative study exploring parents' experiences of living with childhood multiple sclerosis. Chronic Illness 13(2): 88–99. DOI: 10.1177/1742395316664959.

12.

Hjorth

Kreicbergs

Sejersen

, et al. (2018) Parents' advice to healthcare professionals working with children who have spinal muscular atrophy. European Journal of Paediatric Neurology 22(1): 128–134.

13.

Hjorth

Kreicbergs

Sejersen

, et al. (2019) Bereaved parents more satisfied with the care given to their child with severe spinal muscular atrophy than nonbereaved. Journal of Child Neurology 34: 104–112.

14.

Kreicbergs

Valdimarsdóttir

Onelöv

, et al. (2004a) Talking about death with children who have severe malignant disease. The New England Journal of Medicine 351(12): 1175–1186.

15.

Kreicbergs

Valdimarsdóttir

Steineck

, et al. (2004b) A population-based nationwide study of parents' perceptions of a questionnaire on their child's death due to cancer. Lancet 364: 787–789.

16.

Krippendorff

(2004) Content Analysis: An Introduction to its Methodology. 2nd edition. USA: Sage Publications.

17.

Lawton

Hickerton

Archibald

, et al. (2015) A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy. European Journal of Human Genetics 23(5): 575–580. DOI: 10.1038/ejhg.2014.147.

18.

Lazzarin

Schiavon

Brugnaro

, et al. (2018) Parents spend an average of nine hours a day providing palliative care for children at home and need to maintain an average of five life-saving devices. Acta Paediatrica 107(2): 289–293.

19.

Lunn

Wang

(2008) Spinal muscular atrophy. Lancet 371(9630): 2120–2133. DOI: 10.1016/s0140-6736(08)60921-6.

20.

Lövgren

Sejersen

Kreicbergs

(2016a) Information and treatment decisions in severe spinal muscular atrophy: a parental follow-up. European Journal of Paediatric Neurology 20: 830–838.

21.

Lövgren

Sejersen

Kreicbergs

(2016b) Parents' experiences and wishes at end of life in children with spinal muscular atrophy types I and II. The Journal of Pediatrics 175: 201–205. DOI: 10.1016/j.jpeds.2016.04.062

22.

Mah

Thannhauser

McNeil

, et al. (2008) Being the lifeline: the parent experience of caring for a child with neuromuscular disease on home mechanical ventilation. Neuromuscular Disorders 18(12): 983–988.

23.

Mercuri

Darras

Chiriboga

, et al. (2018a). Nusinersen versus Sham control in later-onset spinal muscular atrophy. The New England Journal of Medicine 378(7): 625–635. DOI: 10.1056/NEJMoa1710504.

24.

Mercuri

Finkel

Muntoni

, et al. (2018b). Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders 28(2): 103–115.

25.

Murrell

Crawford

Jackson

, et al. (2018) Identifying opportunities to provide family-centered care for families with children with type 1 spinal muscular atrophy. Journal of Pediatric Nursing 43: 111–119.

26.

Murrell

Lotze

Farber

, et al. (2017) The experience of families with children with spinal muscular atrophy type I across health care systems. Journal of Child Neurology 32: 917–923.

27.

Omérov

Titelman

Nyberg

(2018). Population-Based Surveys That Include Suicide-Bereaved Family Members: Ethical and Methodological Considerations. SAGE Research Methods Cases. DOI: 10.4135/9781526455918.

28.

Pane

Palermo

Messina

, et al. (2018) Nusinersen in type 1 SMA infants, children and young adults: preliminary results on motor function. Neuromuscular Disorders 28(7): 582–585. DOI: 10.1016/j.nmd.2018.05.010.

29.

Pane

Coratti

Sansone

, et al. (2021) Type I SMA "new natural history": long-term data in nusinersen-treated patients. Annals of Clinical and Translational Neurology 8: 548–557.

30.

Qian

McGraw

Henne

, et al. (2015) Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study. BMC Neurology 15: 217. DOI: 10.1186/s12883-015-0473-3.

31.

Rallison

Raffin-Bouchal

(2013) Living in the in-between: families caring for a child with a progressive neurodegenerative illness. Qualitative Health Research 23(2): 194–206. DOI: 10.1177/1049732312467232.

32.

Smith

Cheater

Bekker

(2013) Parents' experiences of living with a child with a long-term condition: a rapid structured review of the literature. Health Expectations 18(4): 452–474. DOI: 10.1111/hex.12040.

33.

Steele

Kaal

Thompson

, et al. (2013). Bereaved parents and siblings offer advice to health care providers and researchers. Journal of Pediatric Hematology/Oncology 35(4): 253–259. DOI: 10.1097/MPH.0b013e31828afe05.

34.

Sugarman

Nagan

Zhu

, et al. (2012) Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. European Journal of Human Genetics 20: 27–32.

35.

Thompson

Miller

Barrera

, et al. (2011) A qualitative study of advice from bereaved parents and siblings. Journal of Social Work in End-Of-Life & Palliative Care 7(2–3): 153–172. DOI: 10.1080/15524256.2011.593153.

36.

Walsh

(2016) Family resilience: a developmental systems framework. European Journal of Developmental Psychology 13(3): 313–324. DOI: 10.1080/17405629.2016.1154035.

37.

Wang

Finkel

Bertini

, et al. (2007) Consensus statement for standard of care in spinal muscular atrophy. Journal of Child Neurology 22(8): 1027–1049.

38.

Yang

B-H

P-F

Wang

W-S

(2016) The experiences of families living with the anticipatory loss of a school-age child with spinal muscular atrophy–the parents' perspectives. Journal of Clinical Nursing 25: 2648–2657.