Table 1.
Roles performed by the older relatives in families with HD
| Categories and subcategories (CI) N=130 | Interviews excerpts |
|---|---|
| 1. Shaping awareness about HD (68) | |
| 1.1 Promoting awareness (56) | |
| Awareness trigger (6) | My father-in-law used to come home with those choreic movements and people started saying he had been drinking. Then I tried to see what he was doing and in fact (…) there was nothing that justified those movements. Then the symptoms got worse, and Dr. [name of doctor] went to see him and he immediately diagnosed Huntington disease. (Man, 72, non-biological family member) |
| Living transmitters of the disease (23) | The image of him [father-in-law] that remained in all of us was that image of skin, bones and suffering. (Woman, 44, non-biological family member) |
| Retrieved testimony (13) | My great grandmother at the time, at least from stories in the family, was said to be a witch, because of the involuntary movements. (Woman, 37, pre-symptomatic carrier) |
| Provide information about HD (14) | My mother [spouse of an affected carrier] searched for all the information she could (…). She went to the patient’s association, tried to talk to the best doctors, to know all the national and international research available. (Woman, 29, non-carrier) |
| 1.2 Hampering awareness (12) | |
| Denial (7) | We were leaving the hospital [after seeing the neurologist], I turned to him and said: “let’s go schedule an appointment”, to which he replies: “No, I am not sick, the doctor is, I have nothing”. My father never assumed he had an illness. (Woman, 37, pre-symptomatic carrier) |
| Silence (5) | She [affected mother] knows she has her father’s disease but she never opened up a lot. She never mentioned it, she never talked about it, never, ever. (Woman, 33, pre-symptomatic carrier) |
| 2. Influencing HD management (62) | |
| 2.1 Supporting or not (37) | |
| Providing and receiving support (29) | I am now the oldest in the family (…). I am the one who has been supporting the family, not only concerning HD but in all other domains (Man, 72, non-biological family member, son-in-law of affected carrier, uncle of at-risk members) |
| Not providing support (2) | My family just doesn’t care, in fact, they pass by the door of my house and don’t even call or ring the bell to find out if she [affected mother] is alive. (Woman, 33, pre-symptomatic carrier) |
| Discouraging PST (3) | It’s on him [at risk son] to decide if he wants to undertake PST or not, but our opinion, which we shared with him, is that before he decides to have children…then yes, […] but he is now too young to carry this burden right? He’s 23 now, so I think he still has a lot of time (…)(Woman, 43, non-biological family member, spouse of affected carrier) |
| Encouraging/supporting any decision about PST (3) | I told him [nephew] when you want to perform the test just say it, if you don’t want to do it you don’t have to. (Woman, 44, non-biological family member) |
| 2.2 Modeling health-related behaviors (25) | |
| Normalize (10) | I always kept things as normal as possible. I tell my son [at risk] “Your friends know that your father is sick so we will not stop doing things” (Woman, 60, non-biological family members, spouse of affected carrier) |
| Disrupt (9) | Going to appointments with my mother and she admitting that she could put an end to her life (…) I will never forget that she had the courage to say that in front of my sister and me. (Woman, 28, non-carrier) |
| Advocacy (6) | I tried as a self-taught person to learn everything everywhere I could, and I feel bad for not being able to share this. So, I had in mind going to the Hospital of [name of town] and talk to social workers there, and find out if they know of some patients, and share some information on how to help these patients (…). Also, to share my testimony with nursing students. (Man, 67, non-biological family member, spouse of affected carrier) |