by Stefano Torti
I was able to learn a lot about Huntington’s disease… but that woman’s dignified sadness still haunted me, so to speak. I kept thinking about her and her sons, especially the pre-symptomatic one… how could he find the motivation to get up every day, knowing what was in store for him? How could he work, live and love in spite of such a Damocles’s sword?
The question grew important to me as the days went by: how can someone find new possibilities and motivation as their share of healthy lifetime was to be cut in such a cruel way?
Eventually, I decided to devote my M.A. thesis to answering that question. How it happened to be and how I made it will be the topic of this post.
Living with HD. What psychological outcome? My thesis paper
As we have seen in my previous post, the main features of Huntington’s disease are:
- an irreversible and severe progress;
- the lack (at the moment) of a treatment able to stop it;
- the possibility to know whether the person genetically at risk will develop the disease many years before the onset of symptoms (genetic testing).
After learning these facts about HD, I began wondering how pre-symptomatic people cope with their genetic diagnosis and decide not to give up on life.
I imagined that knowing in advance that their span of healthy life will be shorter than expected could shatter their psychological equilibrium, making them angry, depressed, wanting only to retreat from life and even considering suicide.
Is this always the case? Two decades of research on post-test adjustment in pre-symptomatic HD carriers partially mitigate this view.
In fact, clinical depression and suicidal thoughts (as well as actual suicide) are common among carriers immediately after learning about their genetic status; they experience a generalized sense of hopelessness, which can be detrimental to both personal and professional life.
However, six to twelve months after testing, differences in psychological adjustment between carriers and non-carriers (who in turn experience more depression and psychiatric issues than the general population, probably because of survivor guilt) begin to decrease: five years after testing, the level of depression symptoms is back to baseline (i.e. pre-test).
Psychological adjustment before testing, rather than the result itself, seems to be the best predictor of the post-test adjustment.
This surprisingly not-so-bad adjustment to pre-symptomatic status probably depends on:
- the reasons which had led the individual to testing. Having clear reasons for testing (for example, career and family planning) predicts a better post-test outcome, regardless of actual genetic status; and
- the so-called self-selection: test-takers who choose to take part in studies assessing their post-test adjustment are supposed to be more resilient and to enjoy more emotional support from family and friends, so their relatively adaptive reaction to their genetic status may not be extended to the overall testee population.
I was glad to learn this, and also surprised. What the scientific literature made clear is that most HD gene pre-symptomatic carriers certainly considered genetic testing results as a massive turning point in their life, but not necessarily the biggest one. Events such as a loved one’s death, a divorce, or the loss of their job were actually considered to be even more stressful to them than their genetic status.
The ability to integrate the risk and then the actual status in a broader path of life, exploring different possibilities, predicts a better post-test outcome for both carriers and non-carriers.
The next question which came to my mind was: how do pre-symptomatic HD gene carriers life their healthy time to the fullest?
I found some qualitative studies about the subject. Researchers usually interviewed people, letting them freely discuss their projects and goals. Generally speaking, their main concern is enjoying as much time as possible with their loved ones, developing and/or deepening meaningful relationships. Others mentioned the pursuit of personal and cultural interests they had set aside because of busy work and family schedules.
I found these studies very interesting and somewhat comforting; however, they are also anecdotal: we can read many personal experiences in them, but what about the big picture?
While looking for an answer I encountered a completely different approach to investigating how HD patients react to genetic diagnosis, an approach that had been adopted by J. J. F. O’Rourke from the University of Iowa in his doctoral dissertation (2011). The key concept in this study is post-traumatic growth (PTG).
PTG is a multidimensional construct referring to the cognitive and emotional changes and reshaping brought by a traumatic event (like testing for HD) in significant life areas:
- personal strength;
- relating to others;
- appreciation for life
- realization of new opportunities in life.
What impressed me the most, the degree of such growth does not depend on the actual severity of the traumatic event, but rather on the degree of challenge it poses to the person’s prior cognitions and beliefs, and the subsequent cognitive and emotional adjustment.
One hundred nineteen HD test-takers (82 carriers and 37 non-carriers; average age = 44; time since testing between 1.1 and 8 years) answered the Posttraumatic growth inventory (PTGI; see the link above for more details), a quantitative instrument able to measure PTG using 21 factors, each one related to one of the five PTG areas.
The participants were asked to state, on a 0-5 scale, how much the change expressed by each sentence had occurred in their life as a result of finding out their genetic status.
The following results (which I found encouraging and surprising at the same time) emerged:
- a clinically significant level of PTG was experienced by both carriers and non-carriers, without statistically significant differences between the two groups;
- appreciation for life was the area where the highest level of PTG was registered in both groups, while the lowest level was reported for spirituality;
This confirmed that being positive or negative for HD gene is not that important for post-test adjustment: a carrier can adapt as well as a non-carrier.
Personal and social resources like supportive relationships, resilience and genetic counseling have probably more to do with post-test adjustment than the actual genetic status.
The results of the study, however, may be biased due to participant self-selection, and this may account for the generally good post-test adjustment reported by both carriers and non-carriers.
I found that research on psychological adjustment to a HD gene positive status is flourishing, yet a rather important aspect has been neglected: the effect of such a status on educational and career prospects.
Bearing in mind what I have read, I found it rather surprising, since:
- career is the least satisfying life area according to HD gene testees (both carriers and non carriers)
- professional activities are among the first ones to suffer from the onset of symptoms, with difficulties in keeping up with daily schedules and multitasking, and troubles with setting agendas;
- at least two studies show that both being at risk for HD and testing positive for the HD gene dramatically reduces the chances to invest in education and/or training.
Considering all of this, I expected a limited interest in education and career in pre-symptomatic HD gene carriers, who may otherwise be more willing to spend time with their loved ones, having hobbies, and traveling as qualitative studies tend to suggest.
But was that true?
By then, I was very into the matter, to the point I decided to make it the subject of my thesis paper. I felt the topic could be both personally and scientifically relevant and fulfilling.
The next step was finding a supervisor. It was harder than I thought, since almost nobody among the faculty had ever heard of Huntington’s disease, but finally I found a lecturer whose research field was Health Psychology who immediately showed interest in my project.
Thanks to him, I was able to get in touch with a large HD patient association in my city.
They welcomed me and were enthusiastic when I explained my research project to them… they could hardly believe a young student like me knew what HD was, and even wanted to devote his thesis to it!
So, my 9-month-long (a significant coincidence, isn’t it?) journey began.
Following the steps of the Iowa study, I decided to investigate PTG in a HD testee population, focusing on the five traditional PTG areas plus an additional subscale relating to educational and career projects.
Unlike O’Rourke, I chose to integrate a quantitative and a qualitative approach, using a modified PTGI. I did want to obtain a quantitative, measurable outcome, yet I felt participants deserved to have a voice, to freely express their thoughts, feelings and ideas.
They deserved to be treated and seen as people, not just figures.
Now, I will not annoy you chronicling all the delays, setbacks and problems I met, since recruiting a reasonable number of participants was a long and sometimes frustrating process; however, in early 2015, we finally made it and had had 30 people (19 carriers and 11 non-carriers) complete the questionnaire.
I was over the moon and very grateful to everyone had helped me to carry out my research. It was time to consolidate all the data I had collected and understand what they meant.
I will summarize my findings so to keep it short and clear:
- as I expected from O’Rourke’s paper, no significant difference in PTG levels among carriers and non-carriers has been found, both in global and in education/career-related PTG, thus confirming that genetic status itself does not predict post-test adjustment;
- the best predictor of education/career-related PTG was the global PTG level;
- younger people were more likely to experience both global and education/career-related PTG; on the contrary, gender was not related to PTG levels;
- in both groups the highest level of PTG was registered in the appreciation for life, while career and education were in the third place (out of 6 factors) as to experienced growth.
In spite of its limitations (a small-size sample, as well as the self-selection bias already noted for the largest study), my research shows that education and career can be as important as family and personal relationships for HD gene pre-symptomatic carriers.
I was glad to disagree with the rather discomforting predictions about educational and professional attainments among the HD community: actually, pre-symptomatic HD gene carriers can live their life to the fullest at school and work as well, and this also results from the personal thoughts and experiences shared by participants.
Only a few decided to open up, but I found every single word of theirs worth reading, often empowering, sometimes moving.
A common feeling is the will to live their life to the fullest, enjoying and making good use of every single day they are given.
Here are two significant examples (translated into English):
“I’d like to change jobs often because I want to enrich my wealth of experience…” — Elisa*, HD gene positive, 25.
“I don’t put work first in my life. It’s a matter of priorities. When the disease starts, I’d like to have many memories and experiences, not only professional-wise, and if this means to take a step aside, I will…” — Alice*, HD gene positive, 31.
At the end of the day, they simply want to finish their life’s work, both personally and professionally. Just like everybody else.
That is the conclusion I reached while defending my thesis before the examining commission, on a bright March day: whatever your genetic make up, you are still a human being with dreams, fears, skills and opportunities to fully enjoy.
No test result is ever going to change this.
Stefano Torti earned his Master’s degree in Cognitive Sciences from the University of Milan in 2015, with a thesis on the psychosocial impact of predictive medicine as it relates to Huntington’s disease. He lives in a small town not far from Milan and is currently looking for his first job.
* names changed to protect patient privacy.