Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study

Abstract

Purpose

This study focuses on the functional and psychosocial consequences of facial weakness of patients with facioscapulohumeral muscular dystrophy (FSHD) and how they manage their daily lives.

Materials and methods

We conducted a qualitative study. Sixteen FSHD patients with varying degrees of facial weakness were interviewed using a semi-structured interview guide. Data were analyzed using the constant comparison approach based on the Straussian Grounded Theory.

Results

Reduced facial expression affected different aspects of a participant’s life, which is reinforced by fatigue. Particularly the younger participants described the confrontation with reduced facial expression as upsetting. The unpredictability of the progression of facial weakness makes many participants insecure and concerned. They generally tend to avoid discussing facial weakness with loved ones as well as with strangers.

Conclusions

Patients would like the expert teams to shed more light on effective skill training and psychosocial support, especially for the younger patient group. A multidisciplinary approach is needed in addition to programs focusing on the individual aspects of facial weakness. As the experienced psychosocial effect is not commonly equal to the objective degree of facial weakness, we recommend a tailored approach. Finally, these programs should point out the importance of the patient’s own ingenuity.

Implications for Rehabilitation

• Facial weakness affects both activities and social participation in patients with facioscapulohumeral muscular dystrophy (FSHD), which is reinforced by fatigue.

• Many participants try to stay down to earth and focus on their ability to self-manage their obstacles regarding facial weakness.

• Thus, future treatment programs should have a multidisciplinary approach and should point out the importance of the patient’s own ingenuity.

Keywords:

• Facioscapulohumeral dystrophy
• facial weakness
• psychosocial consequences
• self-management
• qualitative research

Introduction

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disease characterized by weakness of the face, shoulders, and arms. Facial weakness, varying from minimal, non-noticeable to marked paresis, reduces the modes of verbal and non-verbal communication. This may hamper communication and social interaction [1]. Regarding facial weakness, many patients describe a feeling of being constantly confronted with their disease, as it is always visible in mirrors and pictures and continuously influences social intercourse [1]. However, the effect on communication may also remain unnoticed by patients and close ones. Some patients have indeed reported that only afterwards they realized that several miscommunications were due to their facial weakness [2,3].

Even though it is the telltale sign of FSHD, research on facial weakness and the functional and psychosocial consequences is limited. Gradually, with support of the FSHD advocacy group, patients with FSHD are encouraged to talk about these experiences [2,3]. In our clinic, some patients have expressed their wish for professional support in dealing with the consequences of facial weakness in daily life and for facial weakness to be part of rehabilitation programs. It is important for health professionals to meet the needs of this patient group, but patient perspective on facial weakness, its consequences and coping of patients with facial weakness is rarely discussed in current literature.

This study aims to gain insight into the functional and psychosocial consequences of facial weakness of patients with FSHD and how they are managing in daily life. The results of the study will report on the considerations that should be taken into account when designing programs to manage facial weakness in rehabilitation.

Materials and methods

A qualitative study with semi-structured interviews with patients with FSHD was conducted. The interview guide was developed in collaboration with the FSHD advocacy group of the Dutch patient association for neuromuscular disorders (Appendix B, Supplementary file). The interview data were analyzed using constant comparison approach based on the Straussian Grounded Theory [4,5]. Research procedures and reporting followed the Consolidated Criteria for Reporting Qualitative Research (COREQ) (Appendix C, Supplementary file) [6].

The study was approved by the Medical Ethics Committee of Radboud university medical center (registration number: 2018-4060).

Participants and recruitment

Between March 2018 and March 2019, 16 patients with FSHD participated in this study. Inclusion criteria were: aged 18 and over, a genetically confirmed diagnosis of FSHD1 or 2, any degree of facial weakness and having proficient command of the Dutch language.

Participants were recruited by purposive sampling through (1) an announcement in the digital newsletter of the FSHD working group of the patient associations for neuromuscular disorders in the Netherlands and Belgium and (2) a gatekeeper (NV) at the center of expertise in neuromuscular diseases at the Radboud University Medical Centre. Participants were called by telephone by the researcher (SS) to further inform them, after which an information letter and informed consent were sent out. To give participants the time to reflect on the topic of facial weakness, the interview guide was sent out before the actual interview.

Data collection

There were two moments of data collection for each participant. The first was an appointment at the participants’ home. The maximum duration of this appointment (including interview) was 90 min. All interviews were led by the first author SS. To ensure free speech, no other persons were present during the interview, except for one participant whose speech was difficult to understand due to the facial weakness and needed support from two caregivers. Before starting the interview, the overall disease severity was scored by the researcher using the “FSHD Evaluation Scale” (0–15) [7] (including scoring of facial weakness: 0 = none; 1 = moderate; 2 = severe) and participants were asked to fill in two descriptive questionnaires assessing dysphagia and on dysarthria [8,9]. The researcher kept a research log with interview summaries and researcher-evaluation-scores regarding the experienced psychosocial consequences of the facial weakness on their daily life based on the descriptions of the participant (−, −/+, +, ++, +++, in an increasing manner).

The second moment of data collection was a short telephone interview two weeks later. Then, the interview summary and the researcher-evaluation-score were discussed with the participant as a member’s check [10,11].

Data analysis

Prior to the analyses, the audio-taped interviews were transcribed, anonymized and uploaded to Atlas-ti version 8.1 software. The qualitative data were analyzed using the constant comparison approach based on the Straussian Grounded Theory [4,5]. Two authors, both with different background, SS (Medical master’s student) and LR (psychologist and experienced qualitative researcher) independently analyzed the data through a process of inductive comparison and reasoning, starting from the data and not of preexisting theories. After familiarization with the data by reading the transcriptions, the two authors SS and LR independently searched for the basic units of meaning by segmenting the data and giving these segments conceptual labels which were closely related to the participants’ words (open coding). Both authors compared and discussed these codes until they reached consensus. Next, they identified relations between the open codes and grouped those codes referring to the same phenomenon into categories (axial coding). Thereafter, in an iterative process spread over three reflective meetings with three other members of the research team (EC, TS, NV), they discussed these categories and codes until consensus was reached. The categories were organized into themes and discussed in the research team until consensus was reached (search for theoretical integration).

Results

Sixteen individuals with FSHD were interviewed, nine women and seven men, aged between 24 and 77 years (mean 47 years). The FSHD clinical score ranged from 3 to 15. The severity of facial weakness was scored moderate in seven participants and severe in nine participants. Further details on participant characteristics are presented in Table 1.

Table 1. Participant characteristics, in order of inclusion sequence.

Participant number	Gender, age	FSHD score [12] (facial weakness)	Facial functional disability	Social status	Work status	Wheelchair	Researcher-evaluation-scores
1	F, 24	9 (2)	Articulation problems No nuts, meal >30 min, cramp in muscles	Living alone	Working part-time	Yes, age: 18, not using at home	+++
2	M, 26	15 (2)	Speaking for a long time and to strangers Cuts food into little pieces	Living alone	Working part-time	Yes: age 17	+
3	F, 29	10 (2)	Raising voice	Living alone	Working part-time	Yes, only for long distances	+++
4	F, 29	15 (2)	Mild difficulties with strangers Meal >30 min, cuts food in little pieces, difficulty swallowing food	Living alone	Student	Yes, age: 18	+++
5	M, 38	15 (2)	Speaking for a long time and to strangers	Living alone	No job	Yes, age: 19	−/+
6	M, 38	4 (1)	None	Living together	Working full-time	No	−
7	M, 39	3 (1)	Mild articulation problems	Living together	Working full-time	No	+
8	M, 45	11 (2)	Raising voice, speaking for a long time No chewy meat, cuts food in little pieces, cramp in muscles	Living together	Early retirement	Yes, only for long distances	−/+
9	F, 46	14 (2)	Raising voice, speaking for a long time No chewy meat, aware of choke risk	Living together	Working part-time	Yes, age: 26	+++
10	F, 47	11 (2)	No chewy meat, cuts food in little pieces, cramp in muscles, mild difficulty swallowing food	Living alone	Early retirement	Yes, only for long distances	++
11	F, 49	5 (1)	None	Living together	Working part-time	No	−/+
12	M, 54	12 (1)	Mild difficulties with strangers, raising voice	Living alone	Working part-time	Yes: 51	−/+
13	F, 57	15 (2)	Raising voice, articulation problems Only soft/mashed food	Living alone	Single, early retirement	Yes, age: 27	–
14	F, 72	9 (1)	Raising voice, articulation problems, no intonation when speaking fast	Living alone	Retired	No	−/+
15	F, 75	12 (1)	None	Living together	Retired	Yes, age: 57	−/+
16	M, 77	13 (1)	None	Living alone	Retired	Yes, age: 70	–

The FSHD Evaluation Scale ranges from 0 to 15, and higher scores indicate more severe disease. The facial weakness score is a part of the FSHD Evaluation Scale, ranging from 0 to 2 (0 = none; 1 = moderate; 2 = severe). Researcher-evaluation-scores regarding the experienced psychosocial consequences of the facial weakness on their daily life were based on the descriptions of the participant (–, –/+, +, ++, +++; reflecting no, mild, moderate, severe and very severe consequences).

Five main themes were identified: (1) facial weakness affects multiple aspects of life; (2) trying to stay down to earth; (3) focus on self-management; (4) avoiding discussing facial weakness; and (5) thoughts on expert support. These themes are divided in categories which will be further described below. Representative quotes with the corresponding participant number are used to illustrate the findings.

Theme 1: facial weakness affects multiple aspects of life

Participants emphasize that facial weakness affects their daily life activities, physical appearance, and social interactions to varying degrees, and that the consequences evolve over time.

Facial weakness is part of life

The extent to which the participants feel that facial weakness affects their lives ranges from “it is the least of my problems” to “it is all-determining”. Some participants say they are used to their facial weakness and mention that the overall FSHD-related problems bother them more than facial weakness: "My legs bother me more than my face does." P8. When looking in the mirror, they easily recognize the asymmetry in their face, but they do not view this as a lack of facial expression. Only when they look at photographs of themselves or receive feedback from others that they are confronted with lack of facial expression and a different appearance. One participant described this as: " I feel like there is muscle activity in my facial weakness, just not the desired effect." P7. As opposed to these participants describing facial weakness as “a part of life”, other participants experience more consequences which are further described in the following categories.

Facial weakness affects facial expression, speech and eating

Some of the participants report that their facial weakness hinders them to express non-verbally how they feel, and that there is a risk of being misunderstood. While several participants reported the following: "I felt very happy that day and wanted to show it to the others, but I couldn’t." P4. Other participants say they hardly experience difficulties to express and share emotions. Regarding speech, many of the participants says that they have no problems in oral verbal communication. In contrast, most participants report that in certain circumstances (e.g., in a noisy environment or when being fatigued), they have to put more effort in making themselves understood. For example, "In the afternoon, when I’m getting tired, my speech tends to fade." P2. Most participants consider the low volume of their voice as a personal trait rather than related to facial weakness. Regarding eating, almost all participants report having difficulties with chewing, swallowing, and closing their lips: "Hard buns are difficult to eat. So is soup, I’m unable to fully wrap my lips around the spoon. " P9.

Negative judgments of strangers are painful

Participants unanimously mention having an aversion to regularly being judged or wrongly understood by strangers: "At a party, somebody asked me if I was having fun. I thought: Why does he ask this? I’m having a great time, but he doesn’t know me, he doesn’t see it." P4.

In contrast to their proxies (friends and family) who rarely make remarks about their facial expression, strangers’ reactions reflect that they judge the participants as arrogant, rigid, angry, or uninterested. One participant described an encounter at an online platform: "Someone who saw my photo said: He should get something done to his face." P8. These judgments are felt as painful by almost all participants. "Someone I recently met told me: ‘I’ve seen you several times in the past, I always assumed that you were a rigid person’. Such remarks hit me hard." P9.

Younger people are more vulnerable

Especially, younger participants express a feeling of sadness or frustration when talking about their facial weakness. Older participants retrospectively report that they did not feel different from other children or teenagers. However, the comments of parent or peers on their speech, eating or facial expression could hit them hard. One participant remembers the comments from her father: "When I was a little girl, he used to urge me to speak more clearly. I thought: ‘But I’m doing the best I can’. I found it difficult then, but now I’m more relaxed." P3. Overall, participants feel that they receive fewer negative remarks in adulthood than in their youth as people seem to behave more reserved toward older adults. Also, remarks do not affect them as much: "When you get older, maybe you get more confident. Annoying comments of others don’t make me angry anymore. But at eighteen years of age, it did." P13.

Theme 2: trying to stay down to earth

A vast majority of the participants describe that they try to stay down to earth and strongly emphasize that they are not deterred by FW and its consequences. They put forward that their lifelong experience with FSHD has taught them how to bear difficulties and functional decline.

Putting things in perspective

Most participants describe themselves as go-getters with a positive attitude toward life. They state that there is no point in dwelling on to the negative. They say they try to focus on positive aspects of life, for example: "I have my family, my work. I’m happy in my home. That are the important things in my life." P11. Moreover, several participants describe they do not want to waste their energy on negative remarks and usually manage to shut themselves off mentally.

Younger people searching for an emotional balance

In contrast, some young adults express that they regularly search for ways how to create mental distance from negative and hurtful remarks. They report that, as a defense mechanism, they try to overcome their grief and hurt by withdrawing themselves from the situation. One younger participant described this as: "I’m feeling down to earth at this moment, thus I can talk about it. But there are moments when I want to lay on the couch under a blanket, with a cup of tea and some potato chips. If you would ask me then, I would answer ‘Just leave me alone, okay?’" P1. This way, they keep distance and peace and can regain their confidence.

Theme 3: focus on self-management

Regarding the multiple aspects of life that were affected by facial weakness, most participants describe themselves as focusing on their self-management, using a variety of strategies.

Searching for solutions

Several participants report the following regarding searching and applying alternative solutions in daily life: "Problem solving became my second nature. If something is not possible, I will look for alternatives." P4. They believe that their experiences with FSHD helps them to manage emotional and practical problems concerning facial weakness. Especially participants whose profession requires them to interact with others, find their lives revolving around awareness of possible obstacles, looking for alternatives and manage new situations. One participant said: "You learn that there are many possibilities to solve a problem." P7.

Communication strategies

In group meetings, participants say they are very conscious when and how they can join the discussion, and where to sit in the room. Many participants say they have learned to raise their voice to manage these situations. When speaking, they pay extra attention to signals from the other attendees suggesting misunderstanding. If communication stays problematic, participants search for different ways or modalities to get their message across. For example: "If I can't keep up with a meeting because of my low voice, I send a letter, which is often a better way to express my opinion." P12. Finally, one participant described selecting whether something was worth talking about: "If I want to explain something, I do it as briefly as possible. When something is too hard, I leave it out." P11.

Dealing with fatigue

Almost all participants mention that they must adhere to a balance between being active and resting, due to the FSHD. Speaking and interacting with others are felt as aspects that are also tiring and therefor requires periods of rest: "I do realize that in the afternoon I have to rest. When no one’s around, I don’t talk, so that helps." P14.

Optimizing visual appearance

In order to prevent misinterpretation as being angry, disinterested or arrogant, a lot of participants say they intentionally describe their emotions verbally. They also report that they pay extra attention to their physical appearance and self-care. When pictures are made, they consciously use certain strategies to manage themselves in these, sometimes uncomfortable, situations. One participant described the following techniques: "When somebody starts taking photographs, I make sure that I look straight into the camera, that my eyes are open and my lips straight." P4. When eating in a restaurant, they choose soft food that is easy to cut and chew, take small bites and pay attention where they are seated and how to prevent spillage.

Theme 4: avoiding discussing facial weakness

There are conflicting opinions among the participants about whether they should share their experiences and difficulties with others. There are also doubts whether it makes sense to try to look into the future.

Avoiding to inform loved ones

Participants mention that they tend not to share their disappointments caused by facial weakness with their loved ones, in order to prevent them from worrying. Several participants assume that their partner knows what it means to live with facial weakness and talking about it seems unnecessary. One participant also described the fear of being treated as a patient: "I prefer not to discuss my facial weakness with my partner. I don’t want him to think he is married to a patient. I don’t want it to rule my life." P11.

Dissension about informing strangers

If acquaintances or strangers genuinely want to know what's wrong with their face, most participants are happy to explain. They feel empowered to do so by recent media campaigns that highlighted facial weakness. A minority of participants say they immediately inform people they meet about their facial weakness: "When I meet new people, as soon as possible I say ‘Look, I’m suffering of a muscle disease that also affects my face. This makes it difficult for me to express myself, whether I want to smile of I’m sad’." P9. In contrast, one participant said the following: "Your face is personal and the first thing you are judged on, I’d rather not talk about it." P3. Furthermore, the participants who are more generally affected by FSHD, mentioned that attention is often drawn to other aspects, for example by the way they walk or their wheelchair. Therefore, they never feel the need to mention their facial weakness as a part of FSHD.

Although participants think that online dating is an easy way to meet new people, especially younger participants are doubting if, when and how they should explain the background of their visible facial weakness. Some experienced that mentioning their disease deterred the contact: "When online dating, information about the disease behind my facial expression can be too confrontational for the other person." P4.

Dissension about future perspectives

Most participants say they do not think daily about their facial weakness and possible worsening. They feel more concerned about other consequences of FSHD in the future: "My facial expression will deteriorate, okay. Yet, my abdominal muscles and breathing worry me the most." P16. Moreover, they express that it does not make sense to keep worrying as the progress of facial weakness is usually slow and above all, treatment options are lacking. In contrast, some participants say they feel insecure and worried by the unpredictable progression related to facial weakness. They become emotional when thinking about a possible deterioration of their face hindering them to articulate clearly. To get some idea about the speed of decline, several participants searched for comparisons: "When I see my brother suffering, I wonder if that will also be my path. That’s worrying me." P10.

Theme 5: thoughts on expert support

Most participants find it important that healthcare teams develop expertise in facial weakness in FSHD. They would like to see the development of effective programs targeting practical problems around eating, communication, and fatigue. They also advise the provision of psychosocial support to young people during puberty, under the condition that this is done by professionals specialized in facial weakness and FSHD.

Advocating effective skill training

Several participants express having negative experiences with speech therapy aiming to strengthen the face muscles. In contrast, participants report having positive experiences with speech therapy, for example: "A speech therapist taught me a technique for chewing. By making rotational movements, I can crunch the food without using too much force." P9. One participant reports that, although she had big doubts beforehand, occupational therapy offered her an effective approach to fatigue. This approach focused on making a timeline of their daily activities and fatigue, thus making their division of energy visual.

Several participants say they thought about possibilities to alter their physical appearance through plastic surgery. However, all of them agreed that its effectiveness should be proven first: But I find it important to look good. "If plastic surgery was scientifically proven to be good and it insurance would cover it, then of course I would do it. But not right now." P9.

Psychosocial support

Most participants believe that there is a lack of knowledge of and support to cope with the psychosocial consequences of facial weakness in FSHD, especially for younger participants. They feel that the actual treatment programs are mainly focusing on medical and physical aspects and are convinced that professionals should pay more attention to the emotional status of the patient with FSHD. Some participants consider themselves competent enough to deal with facial weakness: "I have found my own way. I can imagine that some people long for it, but I didn’t need it." P2. Although they presume it is not necessary for themselves, they advise to provide more psychological support for younger people. One participant said: "When I look back, I have missed counseling. It was especially hard during puberty. I think that younger persons with FSHD could profit from psychological help." P1. Most participants did not specify what form of support they would have wanted. However, some participants specified that they would have profited from learning about how to deal with (negative) comments from others.

Discussion

In this qualitative study, we specifically focused on the experiences of patients with FSHD with facial weakness and found that: Reduced facial expressions affects all aspects of someone’s life, which is reinforced by fatigue. The confrontation with reduced facial expression can be upsetting, particularly for the young participants. All participants try to stay down to earth and emphasize the need of self-management. However, the unpredictability of the progression of facial weakness makes them insecure and concerned. Therefore, they tend to avoid discussing facial weakness with loved ones as well as with strangers. Patients would like the expert teams to shed more light on effective skill training and psychosocial support, especially for the younger patient groups.

Literature about the experiences and psychosocial consequences of facial weakness in FSHD is scarce. Quantitative research has been focused on the prevalence of facial weakness in muscle disorders (including FSHD) [13] and on the assessment of the severity of facial weakness and difficulties in oral verbal communication and swallowing [14]. Qualitative research on the topic is limited to a study on the general illness experiences in FSHD [1]. In this study, Bakker et al. described that facial weakness negatively affects non-verbal communication; however, they do not describe this effect in further detail.

Our participants described being interpreted as negative, bored, or angry. A wide range of research on the involvement of the facial muscles in other medical conditions showed similar experiences in these patients [15–21]. In patients with Parkinson’s disease, it is reported that patients are often socially misjudged as passive, bored, introverted, or less attractive by strangers due to facial masking [18,19]. This is more evident in patients with more severe facial masking, since these patients are judged as less supportive and social positive, when compared with patients with less severe facial masking [22]. Another study reported Bell's palsy patients to be more frequently regarded as negative [17,23]. In FSHD, the perspective of communication partners has not been investigated before. Our participants reported different strategies to prevent being misinterpreted. For some, this meant knowingly expressing their emotions verbally, or focusing on their eyes and body language. This way of dealing with facial weakness is also described in other patient groups with facial paralysis [15].

Age was a main factor that determined the gravity of the consequences of facial weakness on the participants. Generally speaking, in our participants group, we found that younger adults experienced a stronger effect of facial weakness on psychosocial functioning and emotional wellbeing. Goselink et al. described a decreased quality of life in children with FSHD, possibly related to the burden of facial weakness resulting in impaired social functioning [24]. For other conditions involving facial features, the degree of psychosocial distress was also reported to be higher for younger adults [25]. This difference between age groups in our participant group, might be due to the higher focus on physical appearance among young adults. The focus on “perfection in physical appearance” in social media might also play a role as the younger generation spends more time online. Older participants described that they learned to cope with the consequences of facial weakness and tend to focus on the positive aspects of life. Finally, with increasing age, differentiating the influence of facial weakness from the “natural aging process” on appearance becomes more difficult.

During data analysis, we noticed the difference between male and female participants in the experienced psychosocial consequences of the facial weakness on their daily life (Table 1). The difference between female and male patients has also been observed in Bell’s palsy patients, with a higher degree of psychosocial distress in women than in men [26,27]. Furthermore, women with Parkinson’s disease with more severe facial masking were rated as less socially positive. In contrast, men with facial masking were not rated negatively by others [18,23]. The sex difference was not reviewed during data collection, as it only became apparent after comparing all 16 interviews. We speculate that the differences of the focus on physical appearance and more specifically, ways to alter appearance such as make-up, contributes to this. Further qualitative studies have to further investigate the factors determining the experiences psychosocial consequences of facial weakness.

We found that only a small group of participants experienced consequences for oral verbal communication. This is in line with the previous study by Mul et al. [14], who observed that 35% of patients reported having these difficulties. Most difficulties were reported for the items “say something quickly” and “getting your turn in a fast-moving conversation’’. The participants in our study described a similar phenomenon, in which they said that the conversation had already continued a different topic if they were unable to answer quickly. Some participants described a feeling of frustration and confrontation when they have to repeat themselves. These feelings are also reported in patients with other types of dysarthria [20,21]. Almost all participants mentioned that the speech difficulties solely did not make them feel less involved in a group or socially distanced from others. This is in contradiction with previous studies on the effects of dysarthria in patients with different underlying causes, which describe negatively changed relationships and social isolation [20,21]. The strategies described in patients with dysarthria are similar to strategies in our participants (e.g., avoidance behavior, limiting what they want to tell, writing down what they want to say). However, the participants in our study do not solely experience being negatively affected in social situations, since they applied other ways to communicate that prevented them from feeling isolated.

We found that the experienced psychosocial effect is not commonly equal to the degree of facial weakness, as shown in the researcher-evaluation-scores (Table 1). This finding is also described in other patient groups (e.g., stroke, facial disfigurement) [21,25]. This implicates that there are multiple factors (some of which we described earlier, like age) influencing the psychosocial effect of facial weakness and highlights the importance of a tailored approach to FSHD patients with facial weakness.

In summary, the above findings show that facial weakness has an effect on all aspects of functioning as described in the International Classification of Functioning Disability and Health (ICF) by the World Health Organization (WHO) [16]. Facial weakness itself is an impairment of the facial muscles and results in limitations in daily activities such as eating and talking and influences social participation especially with strangers. Both personal (e.g., age) and external (e.g., remarks from others) factors can influence this impact.

The participants express various ways to self-management and these ways highlights the individual differences between participants. Self-management can be subdivided in medical, emotional, and role management [28]. Medical management refers to the coping with the physical consequences of the illness. Since there are no medical treatments, participants describe strategies fitting role (regaining or maintaining their role in society) and emotional (coping with emotions related to facial weakness) management. Participants describe strategies to prevent their role from being affected by facial weakness. Especially, participants whose profession requires them to interact with others, find new ways to communicate if they are unable to do so in the in the regular way. To manage the emotional consequences, participants generally try to stay down to earth and not focus on facial weakness.

There is no consensus on the medical approach on facial weakness in FSHD and dealing with its (psychosocial) consequences. We have recently started a psychological group intervention for people with a visible disfigurement due to a medical condition. The primary goal is to improve self-esteem and diminish psychological distress by strengthening patients in coping with appearance-related problems. Preliminary data suggest that the patients’ psychological distress had diminished, and the level of acceptance had improved at follow-up (unpublished data). This shows that a psychological group intervention might contribute to the improvement of psychological wellbeing in patients with a visible disfigurement such as facial weakness in FSHD. Participants mentioned that they would like to see programs targeting practical problems (on eating, communication, and fatigue). As such, FSHD patients might also benefit from a program similar to “meat and eat” [29], which is an interdisciplinary group intervention focusing on healthy nutrition, meal preparation, and consumption program designed for myotonic dystrophy patients. While these two programs focus on different aspects of dealing with facial weakness, participants stressed the importance of a multidisciplinary approach. At this point, there might be an important role for the occupational therapist and rehabilitation professional, whose expertise lie in bundling the individual experiences of participants and channeling these into practical and psychosocial solutions.

The final outcome of our study that, to the best of our knowledge, has not previously been reported on, is the resourcefulness of FSHD patients. While the above-mentioned programs might help a subset of FSHD patients, all participants unanimously underlined their ability to self-manage their obstacles. Participants described different techniques that they successfully apply in their daily life that help them deal with facial weakness. This underlines the importance of actively involving patients when designing new treatment programs. Above all, while newly designed multidisciplinary programs might focus on different aspects of facial weakness, they should all point out the importance of the patient’s own ingenuity.

Strengths and limitations

The main strengths of our study are the different steps taken to ensure trustworthy outcomes. The topic guide was created in collaboration with two members of the FSHD group of the Dutch patient association for neuromuscular disorders. Furthermore, to increase the credibility of the study, participants with various degrees of severity of FSHD and facial weakness, and different ages, were included [30]. We tried to create a calm atmosphere during the interviews and as a result we experienced a large willingness of participants to talk openly on this topic. As a member’s check, the discussed topics during the interview including the interpretation of the experienced psychosocial consequences caused by facial weakness, were discussed with the participants one to two weeks after the interview. To avoid researcher bias, data analysis was conducted by SS and LR and included several meetings to review the procedure and content. Moreover, the content of the categories and themes were discussed with researchers with different professional backgrounds (EC, TS, and NV) which improved the credibility of the findings.

Nevertheless, our findings should be interpreted with some caution. Our study population consists of a homogenous group in respect of cultural background (all Dutch native participants). The influence of facial weakness in FSHD, may differ across different cultures. A final member’s check after the themes and categories were determined was not conducted.

Conclusions

This qualitative research in patients with FSHD shows that facial weakness affects different aspects of the patient’s life. Many participants try to stay down to earth, but comments from strangers are often upsetting. This is especially mentioned by younger participants. Future interventions on dealing with facial weakness in FSHD and its (psychosocial) consequences, a tailored approach is recommended, as the experienced psychosocial effect is not commonly equal to the objective degree of facial weakness. All of our participants underlined their ability to self-manage their obstacles, so these programs should have a multidisciplinary approach and should point out the importance of the patient’s own ingenuity.

Acknowledgements

The authors would like to thank all participants of this study for their time and openness on the discussed topic. We are grateful to professor George W. A. M. Padberg, neurologist who brought up this topic repeatedly in research meetings, and Carien H. G. Beurskens, physical therapist for sharing her extensive experience in mime therapy for facial palsy and performing a pilot in an FSHD patient. Nathaniël Rasing and Willianne Buit contributed to the discussion by delivering additional references on the topic of facial weakness in FSHD and other pathologies (e.g., Parkinson disease, Bell's palsy). With her experience in qualitative research, Esther Abel contributed in the early phase of this study by tutoring the first author in the principles of qualitative research. Several authors of this publication are members of the Netherlands Neuromuscular Center (NL-NMD) and the European Reference Network for rare neuromuscular diseases (EURO-NMD).

Disclosure statement

The authors report no conflicts of interest.

Data availability statement

Due to the nature of this research, participants of this study did not agree for their data to be shared publicly, so supporting data are not available.

Correction Statement

This article has been corrected with minor changes. These changes do not impact the academic content of the article.