A task to deal with

“Three weeks before test results, Gabriella described how she first learned about Huntington disease and eventually arrived at the decision to proceed with testing…

I grew up in Alberta in the 1940’s and 50’s. I have two older sisters, Karen and Annette. When I was young, we always went to church. Now I go to church with my sister Karen when I visit as she really is a strong, religious person. I’m not an atheist. I do have some kind of spiritual belief, but I’m not attached to any particular church.

My grandfather probably had Huntington’s, but he was never diagnosed because he died of cancer. After he died, my mother went on an amazing search for her roots. My grandfather would never tell my mother anything, so she went back to England to search for information about her father’s and her mother’s families. People said her father had a sister that was crazy, and that she would dance through the fields. We figured that she must have had Huntington’s too.

My mother would have been about 40 years old when her symptoms appeared, so I was seven. When I was a teenager, we were told she had schizophrenia. When I was 20, she was admitted to a mental hospital, and she was never released on a permanent basis after that. I feel very sorry because she didn’t have a clue what was wrong with her.

After my daughter Suzanne was born, I wrote a letter to the psychiatrist at the mental hospital to ask if they knew what my mother had. I told the psychiatrist that I thought my aunt in Ontario had an illness which was quite similar to my mother’s. The psychiatrist did not write back to me, so that got me nowhere. Then my mother took a terrible downturn. I was living in Ontario at the time and was pregnant with my son Jason. That’s when the doctor told us that they thought my mother had an inherited disease, but they wouldn’t know for sure until they did an autopsy.

My mother died two weeks after my son was born. I can remember walking the streets thinking, “What am I doing?” having had this baby. At that time we were told that Huntington’s was inherited through females only. My doctor in Ontario actually got a letter from someone at the Alberta mental hospital saying that it was inherited through the female and that it skipped generations. I knew that this wasn’t true, and so did my doctor, so he wrote back and said, “Aren’t you incorrect about this?”

When the autopsy results confirmed that my mother had had Huntington’s, I asked my uncle if my Auntie Sylvia had been diagnosed with Huntington’s, because I was still hoping that my aunt and mother had different diseases. My uncle said he didn’t know. Then, several years later when my Auntie Sylvia died of cancer, my uncle wrote me a letter saying, “I don’t know why I didn’t tell you before, but your aunt was actually diagnosed with Huntington’s in 1962.” In his letter he said, “I don’t understand my reasons now, but I’m writing to tell you that I’m really sorry.” I could never figure it out. Unfortunately he died about three or four months later, so I never had the chance to talk to him. I still have his letter, but I don’t understand his reasoning. People are funny about this kind of thing.

Huntington’s was one of the reasons why I went to teach school for two years in West Africa. I said to myself, “You better get on and do something with your life.” In 1970 I had my tubes tied, and I really regret it now. I had gone to see a geneticist because I wanted some counselling about being at risk for Huntington’s. All I wanted to do was get some advice, but when I went into her office and said I wanted to talk about the idea of having my tubes tied, she just said, “There’s absolutely no question about it, of course you should get your tubes tied.”

About a year later, my husband and I separated. I met my current husband, Brian, and we started living together in 1973. After we got married, I tried to get my tubes untied. I had gone through all of the preliminaries and it was all set in my mind. But when I walked into the doctor’s office he said, “I can’t do it. You’re 36 years old. I just came back from a conference in New York where I said the cut off date for this kind of thing was 35.” I was crestfallen. That was in 1976, and given that a lot of women are now having their first child at age 40, 36 seems like an unreasonable cut off date. So times change.

I remember exactly when I told Suzanne and Jason about Huntington’s. They were 10 and 12, old enough to have some comprehension. We were driving along and I remember saying to them, “You know the blood test that we just had? It was part of a research study on a disease that grandma died of, and it’s a disease that’s inherited.” I just explained it. I don’t remember a horrendous discussion, or crying or lying awake worrying. Of course, they had never lived with anybody with Huntington’s, so I don’t think it was real to them until they got older and realized what it was. I’m not sure when I started going to the Huntington Society meetings. I was very involved in the 1970’s. I also went to the medical library to read about the latest research. My life was dominated by Huntington’s for a long time, but the most amazing relief for me was when I had a PET scan. This was when PET scans first came out as a diagnostic tool. I can remember exactly what I felt like just before I got the result, and how exhilarated I was afterwards. It was my first 24 hour period of freedom from Huntington’s since I’d found out that my mother died of it. Before I had the PET scans, I could lose my temper three times in a row and people would say, “Oh, oh, she’s probably got Huntington’s.” Even normal behaviour didn’t get treated as normal, and that retarded some of my own personal growth.

“I’m a bit worried that I’m not understanding myself well enough, that I might react to the negative news more strongly than I’m anticipating.”

When researchers first started offering the predictive testing (using linked markers), our family had trouble obtaining enough blood samples. Also, I didn’t really want to go ahead with it then because of the uncertainty. Once they discovered the gene and the 100% results were available, the road seemed clear. I talked about having the test with Brian, Suzanne and Jason. I needed their okay. I don’t know what I would have done if Suzanne said, “Don’t do it because I can’t handle it.” I might not have gone ahead. But they said go ahead. Jason doesn’t seem to make a major thing out of it, and Suzanne said “Mother, I think it’s really important because if you’ve got the gene we need to plan our lives with the possibility of helping you.” That’s a pretty warm thing to say, but that was her attitude. I think the results are going to be okay. But how do I know? I’ve been hanging around the house for two days working and doing some of the things I like, but I’ve got myself in this huge state. I’m busy making jam. I need to clean out the basement. I’ve also been thinking about taking an extra course, but what I really need to do is unwind. It seems to be hitting me in a heavier way than I had anticipated, and I’m a bit worried that I’m not understanding myself well enough, that I might react to the negative news more strongly than I’m anticipating.

If I don’t have the gene, I’m going to wish I was in Alberta to give my sister Karen a hug. I feel to some extent that I’m cheating her if I don’t have it, because then she’s the only one. On the other hand, if I do have the gene, that’s going to be hard for my Dad. It’ll make him, as well as a lot of other people, sad.

What we’ll do with the news if it’s not good, I’m not sure. I honestly cannot predict how I’m going to react. If the news is bad, it isn’t different than it was yesterday because I’ve always had it. I’ll do my best to forget it until I have to not forget it, but I certainly won’t like it for my kids. I know that. I might have to go away by myself for a couple of days. I don’t know. I’m aware that I’ve missed out on a lot of support because I have this independence thing. I don’t seek help unless I’m desperate. I don’t find it easy to ask, “Gee, what have other people done in this situation?” But I am learning that maybe that’s a jolly good idea. In this certain circumstance, I might really benefit from doing that.

Gabriella’s predictive test results indicated that she had inherited an intermediate form of the mutation associated with HD. As such, it was unclear whether she would eventually experience onset of HD. As she explained several months after learning this news, it was a good thing that her husband, daughter and son went with her to the clinic. Everyone had a lot of questions.

During the week before my results, we went to an island where friends of ours own property. It’s very barren, but it’s an absolutely beautiful place. Our friends were using dynamite to clear the area where they’re going to build their house, and so I ended up moving a lot of rocks. I worked for the whole week. It was so therapeutic. We came home on Sunday night and I got the results on Tuesday. I was very anxious on the morning of my results. I just wanted to get it over with. But I always do all the things that are going to make me feel good, like wash my hair and wear something I like. I always do that for these things. Suzanne and Jason and Brian went with me. I can see everybody and where they were sitting, but I’m quite blank about the visit. Getting the news was a shock, I don’t know how else to describe it. I expected to hear that I didn’t have the gene. The geneticist told me how many repeats I had. Then he said, “We don’t usually tell people how many repeats they have, but we’re telling you that you have 36 repeats because you’re in this odd category of people.” He said it was complicated. The clinical team didn’t think it was going to be like this. He said, “We’ve looked at all of the data and there are only about 15 people who have between 36 and 38 repeats. Some of them don’t have Huntington’s and they’re in their 80’s, there are some who are in their 70’s, some in their 60’s and some in their 50’s.” We had a long discussion about this. We also discussed the inheritance pattern as it differs between males and females, what that meant for Jason and Suzanne, and how odd it is that my sister and I have quite a difference between our number of repeats. It seemed that we had a bit of an odd pattern in my family. It was interesting, too, in that if I’d had the predictive testing several years ago (with the linkage test), I probably would have been told that I had very high expectations of having Huntington’s. The geneticist said he felt like he was giving a university lecture; we had so many technical questions. He gave us a few articles to read because we like knowing what there is to know.

“I just wanted to get it over with.”

Jason was really upset. I was amazed and worried at how upset he was. He started crying not very long after I got my test results. Suzanne was fine. In fact, she was stronger than I thought she would be.

After I got the test result, it was almost like a high. It was so odd. I guess it was just the fact that the anxiety was over. It was also peculiar because I had these odd results. It’s like you have it, but you don’t have it. So I had to focus on the positive, the fact that it was kind of bad news with a good flag. I phoned all of our kids that night. I spent half that night on the phone, I remember that. What I remember about the week after is that you sure know that you’ve got some good friends. One friend gave me a gift certificate for a manicure, and some other friends came over with a big bouquet of flowers. And on the same day that I got the results, I went to the drugstore and bumped into my allergist. He just happened to be there, and I saw him and told him. He’s a very comforting person. I know a lot of really genuinely caring people, and it wasn’t hard to tell them.

After I got my results, Suzanne, Jason and I went to Alberta for three days. I told my sister Karen my results before I went to Alberta, so everybody there knew. One night while we were visiting, our whole family went out for dinner. My niece was great. She got up and said, “Well, there’s been a lot of tension in this family, there’s been a lot of phone calls back and forth.” And she said, “When I get tense, I shop.” She bought a goofy present for everybody there. It was such a great way to make everything lighter. I really appreciated it because I thought, “It’s not me, it’s our whole family.”

I had many good conversations with my middle sister Annette, more open conversations about Huntington’s than I’ve ever had with her. I never knew that she worried about it because she never wanted to talk about it. My Dad hasn’t dealt with it. He doesn’t understand it, and I don’t think he wants to. That’s the odd thing. He told my aunt in England that the news was good, and so I had to write and tell her that it wasn’t quite that way.

The second time that the lab ran my test, the result was the same. Maybe I had a little hope that it would be different, but I was really expecting it to be the same. You don’t have any control over what the results are, obviously, so you’ve got to take what you get. The other thing is that everything is not known. I know that it’s 36 repeats, and so I know there isn’t some sort of fine line between 36 and a half and 35 and a half, that it is actually 36 repeats. But I also know that I don’t believe every bit of research that I hear. So I just say to myself, “I’m not even ready to believe that it’s 36; it could be 35; it could be 37.” I’ll just think in the most positive way I can. I made up my mind that I didn’t want to have anything to do with Huntington’s for a year, so I said to Suzanne and Jason, “Let’s not talk about it every time we see each other. Every three months we’ll just say how are you doing, anything new?” In a year from now, I may go out to the medical library to read the latest research, but not right now. I want to have fun. I also need a break from HD. My Dad and his wife are not well. And the time will come when Karen will need a lot more support from me than she does right now, and I’ll be willing to do that. I’ve also made up my mind that I might have to work longer because I don’t want to give up the chance for disability insurance. Brian has to have a hip replacement operation, and if I get Huntington’s we will need care. It’s a natural process that you might have to put some effort into caring for your parents, but I don’t want our kids to have more than their share of the load. My gut reaction to the idea of Jason or Suzanne having the predictive test is, “Don’t bother, it’s too yucky…you’re too young.” Obviously they’re going to do what they want to do, and maybe it would be good for them to know one way or the other. But I don’t hear them talking or worrying about it. If the thing’s nagging at you, that’s different. Then you’ve got to do something about it. But if it’s not nagging at you, why bother?

“After I got the test result, it was almost like a high. It was so odd. I guess it was just the fact that the anxiety was over.”

One of the good things about Huntington’s is that it encourages you not to waste a day. Your life has to be meaningful. At school, I think it’s a benefit to the kids I work with because I have an intense need to have an honest relationship with them. I have an intense need to have positive energy in my classroom, and I really encourage them. This need to have what I call “meaningful” rather than “superficial” relationships with my students is good, and I would say that part of it is due to my confrontation with Huntington’s. I think Brian’s like me. He just made up his mind to look at the positive aspects of it. I need to ask him, though, if it is something that he’s worrying about. To some extent I’m too scared to. The PET scans were all good news, and now I’ve got to deal with something closer to the real thing. The PET results were great. The genetic result was not so great. It is a kind of task to deal with. It is work, this one.”

“One of the good things about Huntington’s is that it encourages you not to waste a day. Your life has to be meaningful.”