A successful recruitment rate resulted in a total of 52 participants (33 patients and 19 caregivers) volunteering for the study, completing a total of 15 interviews (two of which were performed remotely and two of which were dyadic interviews including both caregivers of the same patient as one) and five FGDs with between five and nine participants each (Table 1). Most participants (75%) represented DM1. Five caregivers (DM1) and two patients (DM1) with late disease onset participated in face-to-face interviews instead of FGDs, given their lack of availability for FGD dates and locations. In contrast to expectations, the two MM patients with early disease onset chose to attend FGDs over face-to-face interviews because of the opportunity to interact with other patients and the opportunity for their family members to attend. This reallocation to the FGD was considered appropriate based on the clinical judgment of the researchers. Five caregivers represented pediatric patients (< 18 years of age). Compared with MM caregivers, DM1 caregivers represented older patients. Only 20% of patients self-reported as full-time employees, in contrast to the caregivers’ group (58%).
DM1 patients had higher DM1-Activ-C scores (i.e. less impaired) than MM patients (35.3 ± 12.8 vs. 16.0 ± 12.5, p = 0.03). Similar results were observed in the caregiver groups, however the differences were not significant. While there was no significant difference in the mean CIS score between groups of caregivers, all of the MM caregivers (100%; n = 5) reported a ‘high level of stress (≥ 7, indicating a high level of stress ) versus 46% (n = 14) for DM1. The item that both disease groups reported consistently as a stress factor was ‘changes in personal plans, e.g. had to turn down a job; could not go on vacation)’.
Reasons for Participating
Reasons for participating in either face-to-face interviews or FGDs were grouped into three categories (a–c). The most common reason (49%) was (a) altruistic behaviors (i.e. contributing to the welfare of others). The chance of helping others was a common encouragement, “… help somebody else …” (patient), either family members or future generations; “My daughter has [the disease] and that is why I am doing this, anything that I can do that eventually will help her …” (caregiver). Another frequently mentioned altruistic reason was purely to support research; “basically I think any information that you can get out there could help” (patient). Besides these altruistic reasons, the other reasons for study participation were due to (b) personal interest in the study (27%), i.e. “I’m doing this because it sounds interesting” (patient), “I’m interested to know more about what's going on with research” (caregiver), and/or (c) a belief in how this study could help lead to a cure (24%), “I think anything that could lead to a treatment or medication is excellent …” (patient).
Unmet Health Care Needs
The theme of unmet health care needs was divided into two main codes: (1) disease signs and symptoms, and (2) impact on ADLs. The most frequently mentioned issues related to ‘muscle strength’ (33%) and ‘energy and endurance’ (29%), which included fatigue, daytime sleepiness and exercise intolerance (Table 2). Balance, cognition, speech, and gut- and cardiovascular-related issues were also frequently reported by patients. Participants, both patients and caregivers (n = 18), would refer to other family members affected by the disease as comparators to explain different disease scenarios (either milder or more severe) “cause what my brother have I don’t, he's got a worse disease than I am, and he's really, debilitated”. Unmet health care needs were often disease-specific, with ‘daytime sleepiness’ or ‘myotonia’ only reported by DM1 patients or their caregivers, while issues such as organ failure and hearing problems were exclusive to the MM group. Cognition, swallowing and respiratory issues were mentioned almost twice as much by caregivers than by patients, in both disease cohorts (see the ESM).
Other signs and symptoms that were discussed included pain, vision, hearing, hand dexterity (exclusive to DM1), seizures and organ failure (exclusive to MM) [not shown in Table 2]. Previous experiences associated with the progression of the disease, and fears regarding the uncertainty of future progression, were topics that worried patients and their caregivers among both disease groups; “the progression, and knowing that things are not necessarily going to get any better but they are going to get worse” (patient); “because you don't know how things are going to be for him …” (caregiver).
Some of these signs and symptoms interfered with social/leisure and/or work/school/housework activities (Table 2). Signs and symptoms that impacted ADL related to social/leisure activities the most included ‘speech’ and ‘balance and coordination’. There were 37 examples relating to how the disease affected or impaired performance in work-related activities; however, they did not point to one sign or symptom in particular but rather to the disease in general (see the ESM).
While discussing unmet health needs, health care interventions (e.g. cataracts surgery, hearing aids, percutaneous endoscopic gastrostomy [PEG], speech therapy and orthotics) were mentioned, together with some lifestyle changes such as diet, vitamin supplements or energy drinks, and physical activity. Only one medication, which is recommended for daytime sleepiness, was mentioned during one of the DM1 FGDs and during one face-to-face interview.
When combining responses obtained to the open-ended questions about signs and symptoms (i.e. unmet health care needs), to issues from which the patient would like to be cured first and those they would like to improve if a complete cure was not possible, the two top attributes (i.e. improving ‘muscle strength’ and ‘energy and endurance’) were consistent across both disease groups (Fig. 1).
During this discussion, participants were able to describe desirable treatment attributes, and provided examples of what a satisfactory improvement in signs and symptoms would mean. For example, when mentioning minimum expected improvements related to ‘muscle strength’, participants mentioned they would want at least to be able to “continue to cycle …” (patient) or “go from sitting to standing with no problem …” (patient), or “play golf again…” (patient and caregiver).
Differences identified between the ranking list scores and the list obtained from the qualitative data (i.e. Table 2) demonstrated the following: (1) in the ranking list, ‘improve energy and endurance’ scored higher than ‘improve muscle strength’, whereas during the discussion, ‘muscle strength’-related symptoms were mentioned more often than those related to ‘energy and endurance’; (2) in the ranking list, ‘improve gut function’ ranked in the top 5, whereas when counting the times it was mentioned during the discussions, this symptom would be listed lower in ranking (position 7 in Table 2); (3) the option ‘slow down disease progression’ ranked third in the ranking list, whereas this term was not included as a code when analyzing the qualitative data, as the progression of the disease was always mentioned linked to a specific symptom.
The ranking exercise allowed us to elicit desired benefits not previously included in the list, such as improve lack of motivation, improve motor function, improve coordination, improve facial expression, improve sleep at night, improve organization/memory skills and reduce seizures. When applicable, these additional desired benefits would be grouped and counted as they would have following the same criteria used when analyzing the qualitative data; for example, improved facial expression was counted as ‘improve muscle strength’ and organization/memory skills would have been counted as ‘improve cognition’. Some of these (e.g. improve sleep at night and reduce seizures) are disease-specific symptoms; these were then excluded when deciding which attributes to bring forward to the quantitative study.
Acceptability of Risks
To discuss risks, participants were initially presented with a list of potential risks (see the ESM) and were asked to choose and rank the risks they were most concerned about in order of importance (Table 3). There were no significant differences between disease groups on the prevalence of patients reporting a risk feared or a risk to be tolerated. ‘Damage to the liver, kidneys or eyes’ was feared by most participants (42%; n = 16 DM1, and n = 5 MM). Risks most often categorized as ‘tolerated’ were ‘headaches or pain in the muscle or bone’ (40%; n = 7 DM1, and n = 1 MM) and ‘emotional or behavioral effects’. A few participants (DM1) added ‘other’ risks, not listed, such as vomiting, mental illness or death.
The vast majority of participants [n = 39; n = 34 (29 participants were patients) DM1; and n = 5 (5 participants were patients) MM] mentioned that some of these risks are similar to symptoms of their diseases, and provided examples of how these affect them in daily life as well as coping mechanisms or treatment strategies to tackle them. Some described desirable treatment attributes, and participants (25%) expressed how the level of tolerance for specific risks was related to previous times experiencing that same risk, either as an adverse event of a medication or as manifestation of the disease itself. For example, one patient (DM1) with a pacemaker indicated that he would accept the risk of ‘heart-related effects’ in exchange for improvements in ‘balance and coordination’ because the patient felt safer having a pacemaker. Another participant with the same NMD (i.e. DM1) found ‘heart-related effects’ to be a non-tolerated risk, as his heart was susceptible for complications and he was not eligible to receive preventive treatment (such as a pacemaker). Another patient mentioned that ‘stomach or gut effects’ are tolerable as he/she “already got gut problems and diarrhea, so I can live with that …”.
Among the most feared risks, ‘damage to the eyes’ was specifically mentioned as the most relevant of the three organs (i.e. eyes, liver and kidney), and the importance of certain words and their impact on risk perception was observed. Emphasis on the importance of the word ‘damage’ was noted, as ‘damage to the eyes’ was perceived as permanent and seen as a higher risk level (e.g. feared most or not tolerated) when compared with temporary damage in relation to liver, kidneys or eyes.