The families in the sample had 24 children in total. Thirteen children were still at 50 percent risk of having the HD gene, a further eight had been tested for the HD gene; five are negative and three are positive for the faulty gene.
Only two carers knew about HD in their spouse's family, and the implications of the disease, before they were married. The partners in one couple had both been married before and knew the spouse had HD prior to the marriage. The other couple married not knowing the spouse's HD status, but decided not to have children.
Impact of HD
HD has implications that extend far beyond the patient. One carer summarised the impact of HD on her spouse's family. Speaking about her father-in-law she said:
"He knows what's happening because his wife died with it. It's hard for him because they are his children. Three of his family have it and some of his grandchildren. It's not easy. (Husband's name removed) older sister has it and her son has it, though he doesn't have symptoms yet. His other sister has got it, but we don't know if any of her children have got it, they decided not to be tested. His younger brother we don't know about yet, because he's still quite young – in his thirties, and he hasn't been tested. He has children too. It's hard. It takes over everything, because quite a lot of his family are going to have to go through this, some are already." (Interview 4)
The initial diagnosis of HD was very difficult for those carers who had some knowledge of the disease. For some the shock lasted a long time:
"When we first found out he had it, it was hard. I was traumatised for quite a while afterwards." (Interview 6)
One carer, who had not been aware of HD, believed her ignorance had not made much difference to the way she handled her situation. She said:
"I don't know what I would have done – you may think I would have been better prepared – I might have been financially because we certainly were not – it was a nightmare, but nothing can prepare you for this. I don't believe there is anything that can prepare you for the horror of HD. I just wouldn't wish it on anyone. I worry mostly because of the children." (Interview 5)
Avoidance
Avoidance was a strong theme that was manifest in family members involved with HD. Avoidance often took the form of refusal to discuss HD within the family. One carer whose spouse had been diagnosed said:
"Well you know, he wouldn't talk about it at all. It was difficult to find anyone to talk to within his family. I didn't know about it (HD) and they weren't going to tell me anything about it." (Interview 5)
The five carers who knew that their spouse was at risk before their diagnosis also said that they avoided talking about or thinking about HD:
"We just got on with our lives without thinking about it. We never discussed it. What was the point? He could just as easily not have had it. A 50 percent risk is a 50 percent risk!" (Interview 10)
The main motivation behind refusal to discuss the issue in couples where risk is known seems to be a form of denial. Carers wanted to believe that their spouse was not affected by HD, and avoiding dealing with the risk factor reinforced this.
"I put it in a little box in the back of my mind because really I was hoping she wouldn't have it." (Interview 1)
For some, avoidance can be so strong that denial of obvious symptoms makes the diagnosis even more distressing, as the following interview highlights:
"After seeing her mother, well I had spent so long hoping she didn't have it and kind of ignoring her symptoms, that when I was told it kind of knocked me for six." (Interview 9)
After initial diagnosis, this inability to discuss HD continued for all the carers. For some, discussion seemed pointless in the face of inevitability, which of course, is not exactly the same as avoidance:
"I just think you have to keep going as normal as possible for as long as possible. Why discuss it – what's the point?" (Interview 8)
There was also a lot of secrecy surrounding HD within families. The secrecy was also present within the spouse's own family. This secrecy may have contributed to the inability to speak about the disease. One carer who believed that she had been kept in the dark about the implications of the disease was very angry and resentful:
"I was so angry – I felt angry with him and his dad. I suppose I wanted to protect my children. I wanted it to be all right for them. I was angry. He said he didn't know the implications of the disease, but I'm sure he and his dad knew more than they told me. Looking back I am sure of it." (Interview 5)
Another carer knew an hereditary disease existed in her partner's family, but had not been given any details about the disease. She suggested that if she had known, she might not have married her partner. Avoidance manifests itself at different levels – HD was not hidden from her, but no details about the disease were provided and this carer did not seek information for herself:
"I never met his dad, his mum never spoke about it, neither did he........ I knew when we married that this disease existed in his family, but I can honestly say I never thought about it. As I say, I had never met his dad, maybe if I had it would have been different." (Interview 10)
Although family secrecy was the cause of distress and anger for some carers, avoiding confronting the existence of the disease and discussing its implications sometimes led to a repetition of secrecy in the next generation:
"Well we never spoke about HD, never spoke about that, the kids never knew about it." (Interview 8)
Conversely, although all the carers talked about an unwillingness to talk about HD, several mentioned that they did look for the first signs of HD symptoms:
"I started noticing slight things about six years ago. I often wonder though, if I would have noticed them if I wasn't aware of the Huntington's." (Interview 4)
Symptom spotting and avoidance are conflicting behaviours:
"When I spotted the first signs I just kind of hoped that it wasn't it. I suppose I knew it was, but still I didn't think about it at the time." (Interview 9)
Recognising the symptoms, may have affected the way the spouses behaved. Some patients avoided initial diagnosis. One carer stated:
"It was a long time before she would go and see a doctor. A very long time, I had to persuade her to go because she knew herself what was coming and just didn't want to know. I'm sure it was that." (Interview 1)
Some spouses avoided situations where their failing abilities might be exposed. For example, four of the carers said that their spouses had given up driving, long before they had been diagnosed:
"He felt he was having problems driving and I was getting a bit worried about the driving situation...but he just gave up driving – I did all the driving." (Interview 10)
None of the couples indicated that they prepared for the long-term future or planned for the care of future generations of HD sufferers. Owing to the untreatable nature of HD, and its inevitable progression, avoidance and denial may have been part of coping mechanisms. Avoidance also influenced carers' ability to plan ahead. Their strategy was quite simple, they just dealt with problems as they arose:
" You can't really plan for it – I just take one day at a time. It's so slow you just adapt. I don't make plans." (Interview1)
Although the six couples who had children together all believed that the risk of transmission to their children was the worst part of the illness, they still avoided serious consideration of the long-term implications of HD:
"The implications for my children, that's the hardest thing. I find it so difficult to cope with. In fact I don't cope with it." (Interview 6)
The carers with children at risk were asked if they thought that they might be involved in the care of their own children. All but one carer said that it was a subject they never thought about, and they certainly didn't prepare for it. Typical responses were:
"No – I don't think about that (caring for child), not at all, never. It's not something you can think about." (Interview 8)
And
"I haven't thought about that – no. I hope they haven't got it. That's all I think about it." (Interview 9)
The one carer who had given the matter serious consideration had an affected daughter. However, for personal reasons she was not actively involved in caring for the daughter.
Although all the children knew of their risk, once the initial questions were answered all but one carer said that they never talked about it again:
"They know their dad is ill and it's going to get worse, and they know that they are probably at risk of getting it as well. And to me that's enough for them to be getting on with. We didn't talk about it because, for me, that would just pile it on." (Interview 8)
Avoidance was a strong theme here also:
"I don't really talk about it with them (children). We have spoken about it, but not now. Maybe I just hope they haven't got it." (Interview 9)
Issues around testing
All the carers with children at risk from HD said that they didn't put any pressure on them to be tested for the HD gene. All thought that this was a decision that their children should make for themselves. Of the children at risk less than half had undertaken the test. First hand knowledge of the symptoms and course of the disease acquired from close proximity to an affected parent, appears to influence the decision not to take the test. One carer, discussing or perhaps justifying why her husband had not been tested, explains:
"He lived through his father's illness from start to finish, so he didn't want to be tested. He said that he didn't want to know, it had been so awful that he wouldn't have been able to cope...knowing what was in store for him." (Interview 10)
There was also some concern that the genetic implications made the relationship between the children and the affected spouse distant. One carer explained:
"It has been difficult for them, seeing their dad change and what that might mean for them. They all find it difficult to be with him...it's not just the change in their father, it's partly that, but it is also that they see what might be in store for themselves." (Interview 7)
Problems arose both when a child had been tested and when it had not. One carer whose daughter had tested positive said:
"My eldest has been tested and is positive, but she doesn't want anyone to know. I wonder how she feels (daughter) knowing she has it. She won't talk about it. I think she has hidden it away." (Interview 6)
Lack of support for carers
The carers felt they had a close relationship with their children, and that relationship helped them emotionally and greatly enhanced their quality of life. However none of these children were actively involved in the care of their affected parent. One of the two offspring still living at home was an adult, but she did not help with any of the care of the affected parent, or upkeep of the house. This caused some friction within the home:
"We have a daughter who stays here. She doesn't lift a finger – she's 26, nearly 27, but she doesn't help either of us at all. I don't understand that, we argue about it all the time." (Interview 9)
None of the carers got any help from their spouse's parent. Several of these parents visited but none were involved in the day-to-day care. One carer tried to explain why that might be so – she stated:
"She had many problems looking after his father, especially as she had two children to bring up at the time. And really, I don't think she wanted to be involved in his care. She visits frequently, but doesn't help with his actual care." (Interview 10)
Another carer believed that it would be a great help if her spouse's mother could help her for a short time each week. She explained; this was not on offer:
"I think his mother should help me more. If she could take him out for a couple of hours a week that would really help. But I've asked her about that and she just shouted me down. She thinks it is my duty to look after him. She has no intention of giving me help." (Interview 6)
Several of the carers had no contact with their spouse's wider family and those that did said that it was just on a social basis that only happened once or twice a year.