We have identified three main themes: i) intense stigma associated to MJD in the past; ii) current tendency towards increased openness; and ii) increased availability of information and support. Each theme is presented, along with data extracts to illustrate key points. The following codes are used: P, person with a diagnosis; FM, relative (with the additional specification code, PSC for pre-symptomatic carriers, NB for non-biological family member); HCP, healthcare professional; DCP, direct care providers.
Intense stigma in the past
All participants reported experiences in the community where persons with MJD were publicly labelled as drunk. This was attributed to people showing the incoordination of movements and imbalance typical of early MJD symptoms: “When patients start to show the first symptoms, it’s relatively common that they hear comments like ‘oh, s/he had so much drinking already’ or ‘s/he is so drunk!’ [HCP1]. These comments are felt by the persons with a diagnosis and their family members as offensive and judgmental, making them feel sad and diminished: “When I heard comments like 'she looks drunk' I just wanted to get home and cry” [P2]; “People commented I always walk around drunk. I get sad because they don't know what’s going on” [P12]. Participants attributed these offensive comments to a lack of knowledge about MJD. However, they also sensed that these comments are decreasing as more people in the community become aware about MJD and its symptoms. Some participants described other attitudes that negatively impact people with MJD and their families. The most common of these attitudes is when participants sensed other people staring and/or making comments that suggest pity, which makes them feel different and offended: “Sometimes they don't say anything offensive really, it's just the look” [P3]; “What hurts me the most is when you hear people saying "oh, poor thing". I just hate that, no matter who it is!” [HCP2]. Another comment which is felt negatively is when someone says that the person with MJD will “get better”; these comments are often not interpreted as supportive but instead as revealing a lack of understanding about MJD being progressive and (currently) incurable, which leads participants feeling isolated:
“They say things as ‘have faith in God, trust that he’ll make you getting better’, and I say it’s not like that. I know how the disease is, it just doesn't get any better, it only gets worse. We don’t like to hear this.” [P2]
“There are still people who have no idea of what this disease is. When they ask, ‘is your husband getting any better?’, I just say, ‘I'm sorry, but my husband simply will not get any better, this disease will only get worse’. They simply don’t know what this disease is about.” [FM-NB1]
Some participants commented on the decision of people at-risk or pre-symptomatic carriers to have biological children without taking any action to prevent genetic risk in offspring. A few disapproved of that decision: “There are these young girls who are carriers and are getting pregnant. Then they’ll have to take care of the baby knowing in the future they are going to need help” [DCP7]. Other participants, although questioning those reproductive options, showed more acceptance that “everyone has the right to live life in their own way and choose to have children if they wish so no matter what” [DCP6].
Current tendency towards increased openness
Individuals affected with MJD and their families often faced the disease “behind closed doors”, i.e. staying at home. This was described as more frequent in the past but still happening nowadays, being perceived both as a harmful consequence and as a protection from being shunned in the community:
“I didn’t leave my home for 7 years because I was so ashamed.” [P16]
“The old generation would simply close themselves at home. They were ashamed, avoiding going out because of other persons’ comments. There is a new generation who keeps with the same mentality. When they start to need a wheelchair, they feel a lot of shame, also about what others will say. For example, having to be fed in front of many persons.” [DCP7]
Nevertheless, the progression of the disease can lead to increased social isolation and withdrawal, exacerbating feelings of closedness. Symptoms such as dysphagia and motor incoordination and imbalance often make it hard for people to move around and get out of their homes autonomously. Several participants mentioned that, in the last years, the AAADMJ has been pivotal in stimulating that people with MJD feel more confident in getting out and participating in social activities: “The psychologist and the social worker came to my house and convinced me to get out” [P7]. The association is well known among several families with MJD on the island, which helps to instill a sense of support within the MJD community. When someone receives a PST carrier result or starts experiencing symptoms, they know they can be supported: “I had three older siblings who had also been here [AAADMJ]. It was through them that the psychologist and the social worker knew that I was at home” [P7]. In addition, the outdoor activities that are promoted by the AAADMJ’s community day-care center help to raise awareness in the community about MJD and to advocate for more social integration and acceptance:
“He [person with MJD] walks into the cafe with me, and he was unbalanced. And there was a gentleman starring who said something like ‘so early in the morning and already this drunk’ (…) I didn't blame the person for not knowing what it was, but I felt like blaming me for not seizing the opportunity to let people know the right information. So, I just told him ‘that young man unfortunately it’s not drunk, I wish he was. He has Machado's disease, whose symptoms are this, this, and that; and unfortunately, he's going to end up in a wheelchair and bedridden’. People were very touched, joined us at the table and apologized” [DCP9].
Increased availability of information and support
Participants perceived an increasingly informed and supportive community in São Miguel. This is described as an interactive development: previously, individuals with MJD tended to isolate themselves at home to steer clear of potentially unfriendly social interactions; consequently, this seclusion kept MJD hidden from the community, hindering social comprehension and acceptance of the condition. The increased availability of information about MJD and support in the community are linked to the work of the AAADMJ. Younger generations are now much more informed about research and medical information available through social media.
“Things are now much more open (…) younger generations have more access to new technologies and there is more knowledge about the disease.” [DCP6]
“Currently I think there's more information. And when there is more information, there is more acceptance. You understand things better.” [HCP4]
However, some participants from MJD families feel that information about the condition has not yet been widely disseminated within the community: “People have no idea of what this disease is about, at least the ones around me don’t. People I talk to about the test use to say, ‘what is this, what do you have, are you going to die tomorrow?’ [FM-PSC2]. It was apparent among those from MJD families that there are still people with MJD that feel reluctant in leaving home to avoid showing symptoms socially: “People take refuge at home! They hide! And we have no idea how many persons are out there on the island with this disease” [FM-PSC11].
The role of the AAADMJ is key in providing support, including housing adaptation to increase mobility and access to medical, psychological, and social care: “I feel that any doubt, any problem that I have, there is a lot of support from here [AAADMJ]. I talk a lot with them, and this is where I have been looking for support” [P10]. Particularly, the community day-care center allows persons with MJD to be involved in leisure activities (some outdoors), and have access to medical, rehabilitation and psychosocial interventions. This support is relevant to families, since family members are also supported and can have some relief from the intense caregiving:
“I enjoy spending all day here. They are all my friends. For me when I come here [day-care center], I feel happier. At least here I feel more distracted and no longer just thinking in all the things I can’t do anymore.” [P2]
“The association allowed some relief to families. Because those who have the disease suffer a lot, but those who care for them suffer too.” [DCP7]
Some participants reported receiving support (emotional and instrumental) from friends, what suggests more openness:
"Many of my friends who I have told that my mother has the disease and that I will have it too have said 'hey, that's complicated, but we'll be here for you.' I have very close friends, true friendships. When you say something sad, a true friend will stand there for you." [FM-PSC4]