By Bruce E. Compas and Abagail Ciriego
Changing the landscape of Huntington’s disease for HD patients and family members.
The landscape of Huntington’s disease is rapidly changing for HD patients and family members. Significant progress has been made in the ability to diagnosis the disease at earlier stages, tools are now available to chart the progression of HD with greater precision and, most importantly, there are therapeutics that show promise to slow disease progression.
In spite of these changes and advances, one aspect of HD remains constant — the diagnosis, management, and progression of Huntington’s disease is highly stressful for patients and their families, including siblings, spouses, children, and other loved ones. These stresses can take a significant toll on the mental health of patients and family members, create challenges in interpersonal relationships, and potentially lead to compromises in the body’s ability to fight against the progression of the disease. In spite of the importance of understanding these effects, relatively little research has been conducted on the sources of stress, psychological and physical effects of stress, and the ways that HD patients and family members cope with stress. As a consequence of the paucity of research in this area, there are no evidence-based psychological or behavioral interventions to help improve coping and communication in HD patients and their families.
We are relative newcomers to the world of HD. In our short but intense time, three aspects of this experience have been most powerful. First, the emotional and psychological aspects of HD are compelling. Second, our experience conducting psychological research with patients with other medical and psychiatric conditions (e.g., cancer, depression) has positioned us to bring new perspectives that we can apply to our work with HD. And third, HD has unique features that will challenge us as we strive to better understand its psychological and emotional impact and develop new ways to provide support, enhance resilience and improve quality of life for HD patients and their families.
The Stress of HD
Members of the Vanderbilt HD Center of Excellence first reached out to as potential collaborators in the study and improved understanding of the effects HD has on the children of patients. The neurology team shared with us their observations of the challenges faced by adolescents and young adults whose parents have HD. One of the first families that they described included an adolescent girl whose father was in the late stages of HD. She had shared her fears and acute sadness that she was experiencing about her father’s condition. But she also shared her sense of hopelessness for the future — his future and more painfully, hopelessness about her own future. Even though she had not undergone genetic testing, she felt sure that she was a gene carrier and that she saw her own future in her father.
We have also seen and heard about the challenges faced by spouses of patients who struggle to support their husbands and wives, care for their children, and manage stresses and strains related to lost income and mounting medical bills. The stresses for patients are pervasive, and include the physical and mental changes that result from the disease, the impairment in the ability to work, and the loss of autonomy (inability to drive, challenges in self-care). The stories that families have shared with us have been both poignant and inspiring. One primary aim of our research is to better understand the nature and consequences of these sources of stress.
Applying Research from Other Medical Conditions
As we have learned more about HD, we have been struck by some powerful similarities to families who are faced with other significant mental and physical disorders. Over 30 years ago we began our work with families faced with a parent’s cancer and we have continued in our research with families a parent has major depressive disorder. We have also studied hundreds of families of children with serious illnesses including cancer, brain tumors, sickle cell disease, and congenital heart disease.
Several findings from this research have guided our initial work with HD. First, physical and mental disorders present families with both acute and chronic stress. Acute stresses include the moment that a diagnosis is made, the administration of specific treatments, and a sudden change in a patient’s condition. Acute stressors require immediate responses and create short-term but intense demands on the emotional and behavioral functioning of patients and family members. For example, the unexpected diagnosis of cancer in a child presents children and their parents with a challenge that turns life upside down and can trigger intense fear and anxiety. However, the most demanding sources of stress for families faced with physical and mental disorders are chronic in nature.
Second, most of the significant stressors for these families are uncontrollable. Children and parents feel helpless when faced with a cancer diagnosis and a long, arduous course of treatment. Similarly, children cannot control the symptoms and course of depression in their mother or father. Uncontrollable stress presents the greatest risk for problems of anxiety and depression in families faced with physical and mental illness.
Third, we have identified specific coping strategies that are associated with resilience in children and parents. These include cognitive and behavioral coping skills that are best suited for uncontrollable stress and are encompassed in the category of “secondary control coping.” These skills involve the ability to accept (rather than deny) the source of stress, use cognitive reappraisal to think about stress in ways that makes it less negative, and the ability to use positive ways to distract oneself from and gain some relief from uncontrollable stress.
The Unique Stresses and Challenges of HD
Although HD shares many common features with other conditions, it presents patients and their families with unique stresses and challenges. HD differs from other diseases we have studied in that it is transmitted through an autosomal dominant gene that has complete penetrance. Further, children and adolescents are not eligible for genetic testing to know whether they carry the HD gene, and many young adults choose not to pursue testing. As a consequence, offspring of parents with HD may be faced with prolonged stress of uncertainty about their gene status and their futures.
Our work has also identified important aspects of disruption and impairment in cognitive development and functioning. Problems in cognitive executive function are widely documented in patients with HD. Our research has found that these problems may emerge much earlier than previously thought, including during early adolescence in children of HD patients.
Our findings, which require much more extensive investigation, suggest that HD may be a neurodevelopmental disorder, with the first signs of cognitive impairment arising long before signs of the disease. Further, we have found that impairment in executive function are associated with disruptions in the ability to use the secondary control coping skills (acceptance, cognitive reappraisal) that are central to adapting to the uncontrollable stress experienced by children of parents with HD.
Our Goal: Support and Build Resilience
We have begun the process of carefully documenting the significant sources of stress for HD patients and their families and loved ones. We have also taken the first steps towards understanding the ways that patients and families can cope with these stressors to reduce or mitigate the emotional and physical toll that they can take. Our goal is to continue to document these processes to provide the basis for developing programs to strengthen and develop communication and coping skills for HD patients and their families.
We have achieved significant success in developing evidencebased interventions for parents who suffer from depression and their families. Today, we are committed to developing similar resources to contribute to resilience in families who are coping with HD.