Lessons Learned in the Care of Persons with Late-Stage Huntington’s Disease

Located in suburban San Diego, Edgemoor, a distinct part of the San Diego County Psychiatric Hospital, has become a referral site for patients with the neurological condition Huntington’s disease (HD). Best known for its choretic movements and its affliction of folk singer Woody Guthrie, HD is a hereditary and relentless disease that usually begins in persons at middle age and results in progressive decline over approximately 20 years.¹

Staff at the University of California San Diego (UCSD) Huntington’s Disease care program, designated a Center of Excellence by the Huntington’s Disease Society of America since 2000, refers patients with late-stage HD to Edgemoor. Edgemoor staff has cared for generations of patients from the same families. Although the patient with HD is initially treated for many years in an outpatient setting, as the disease progresses and family resources wane, institutionalization is not unusual.

The duration of the disease often exhausts insurance benefits and personal resources, and limits the options for care settings. Additionally, escalating behavioral problems and care needs will strain family or other caregivers physically and emotionally, creating the need for placement in a facility.

Caught in this conflict, families choosing to place the patient in a long-term care setting may face difficulty finding a facility and staff that can manage their family member.² In the period of 2000 to 2008, Edgemoor cared for 53 patients with late-stage HD, ranging in age from 29 to 78 years at time of death. Patients who have died or were discharged averaged 48 years of age at admission and stayed an average of 11 years. Table I summarizes demographic characteristics of patients with HD at Edgemoor. As understanding of this disease process has grown, Edgemoor staff has sharpened its capability to anticipate the needs of the patient with HD. This experience allows for more successful work with these patients via person-centered care strategies, consistent assignments, individualization, risk-sharing, and with maintenance of autonomy as a primary goal.

Etiology of Huntington’s Disease
HD is an autosomal dominant disease with both physical and behavioral manifestations (Table II).^3-5 The gene for HD is a mutated autosomal dominant gene located on the short arm of chromosome 4 and is associated with an expanded trinucleotide repeat.¹ Children of parents with HD have a 50% risk of developing the disease.⁶ Defining characteristics of HD include abnormal movements, progressive decline in cognitive and physical abilities, and serious psychiatric-behavioral disturbances. The cognitive decline associated with HD has been classified as a subcortical dementia characterized by slowness of mental processing, forgetfulness, impaired cognition, impulsivity, impairment in affective regulation, apathy, and depression, as opposed to the traits associated with Alzheimer’s dementia,¹ such as progressive deterioration of memory, aphasia, apraxia, and agnosia. The course of HD has been divided into three stages, each estimated to last about 5 years (Table II).^3-5 Each patient’s disease progression is unique. Without exception, the disease eventually progresses into a late-stage pattern resembling that of Alzheimer’s disease. Patients have aphasia, dysphasia, dementia, and require complete physical care before death. Patients are institutionalized in Stage 2 or 3/4.^7,8

Concerns and Care Strategies
Planning and preparation are essential for a facility prior to accepting a patient with HD. Such patients may be high risk for a facility. The decision to admit a younger, ambulatory, and potentially violent patient for what is likely a lifetime of care should not be made without assuring that the appropriate resources to handle him or her are available.

Edgemoor staggers these admissions to allow time for assessment and adjustment of patients with HD. Private duty nursing may be required on admission to learn patients’ habits and to reduce the risk of harm to themselves or others. Patients with HD are notorious for tolerating change poorly. Patients may be self-isolating and often do not “accept influence.” A facility must have staff committed to developing relationships with them. Staff discusses with families and patients about what services can and cannot be offered, how appropriate roommate selection occurs, and what referral arrangements for psychiatric care need to be anticipated in case the situation warrants such a referral.

Patients with HD tend to be loners and have poor attention spans. HD patient participation in activities is limited, and often of a brief and unpredictable nature. Adaptive equipment is generally not useful for patients with HD. Due to their erratic motions, these patients don’t usually walk well with a walker or cane, and these devices can be dangerous if impulsively pushed or thrown. Edgemoor tends to let patients with severe ataxia walk as long as possible and, if we don’t get too close, we find that they fall much less commonly than one may anticipate. In the later stages of walking, when they begin to fall daily, Edgemoor staff introduces the Broda® chair, which comes in both a wheelchair and a lounge-chair style.⁹ Other options may include sofas or overstuffed chairs. Very late in the disease, we find many patients do well in Carefoam™ chairs, which support the body in softness and are difficult to thrash out of.¹⁰

Given the nature of the disease, patients with HD are inherently at high risk of falls and injury. Although staff can mitigate this risk with environmental adaptations and supervision, the risk of injury cannot be eliminated. Edgemoor has been restraint-free since January 2007, except for rare brief “holds” for labs and medication administration. As evidence increased about the dangers of restraint use, Edgemoor physicians were no longer willing to write orders for restraints.^11,12 In a restraint-free care environment, patients, families, and staff discuss the tradeoffs being made between autonomy and safety. Although Broda® chairs do have Y-shaped straps that pass from the hip area between the legs and are secured, these chairs are not used to restrain a patient.⁹ Rather, their purpose is to reduce the choretic movements that may throw a patient involuntarily out of the seat or increase agitation.

Ambulatory patients, who occasionally use these chairs, are placed there only when they prefer it and are assisted out of them whenever they wish. Helmets are often considered, but patients rarely consent to them unless they are in the latest stages of the illness and no longer have the ability to remove them or refuse them. Other effective interventions include: placing padding or mattresses around the bed if the bed is near a wall (as patients have a habit of throwing themselves into bed); placing mats on the floor (if they are firm ones and stay in place); and padding corners of furniture.

Edgemoor has shortened the call lights and other cords of patients with HD to reduce the risk of entanglement. Poor hygiene is common in patients with mid- to late-stage HD, with refusals to be changed, have hair cut or combed, bathed, wear shoes or socks, or receive shaves. Many patients appear to have a fear or strong avoidance of water; many outright refuse baths or showers, even when offered by staff members with whom they have good rapport, with assistive devices, or when offered positive reinforcers. With person-centered care, it is important to promote choice. However, at times the hygiene issues can become so severe that the community is adversely affected, and patients present an infection-control risk. In those cases, with the support of the interdisciplinary team, we would become more forceful in offering choices (ie, “Would you like to bathe now or in an hour?”). Bathing and hygiene issues can remain a struggle for years and can be disturbing to family members, staff, and surveyors, and should be carefully care-planned.

Nutritionally, patients with HD movements burn a substantial number of calories and must consume more to compensate for this.¹³ They often have swallowing difficulties, but nearly just as often refuse to eat modified diets. They may impulsively stuff their mouth full of more food than they can swallow, thus creating a choking risk. Despite this, aspiration pneumonia is less common than might be assumed. Edgemoor supervises eating, and use of fortified diets is typical. We also make sure food is available day and night; a snack is often better than administering a psychotropic medication to treat agitation. Most of these patients love junk food. Twenty-three percent of Edgemoor’s cohort of patients has chosen to use enteral feedings for nutritional support. Although we discourage the provision of enteral feeding, patients may be admitted with tubes, or they may have been placed at their or their loved ones’ request.

The burden of care for patients with HD falls hard on the certified nursing assistant. We have instituted consistent assignments where a small group of staff consistently care for the same small group of patients. This is very effective because of these patients’ difficulty with change and their troubles communicating. Consistent staff is more likely to know the residents’ habits and to understand their verbal and nonverbal cues. Private duty nursing (one-to-one monitoring), though costly, has been implemented for severe impulsivity, high fall risk, sexual acting out, and aggression—in some cases for years. Close supervision can reduce but not eliminate the risks.

This is difficult work and can result in burnout and fatigue for staff, who must constantly be on guard for impulsive actions, deal with repetitive anxious complaints, keep peers away, and try to anticipate the needs of the patient. Unrealistic expectations of family members are a major challenge. Even with one-to-one nursing, patients may fall and hurt themselves severely. Although staff is providing close supervision when residents eat, the patient may choke or aspirate. It is important that families know and accept limitations in providing services. Caregivers cannot justify forcing a patient to bathe or wear shoes unless that behavior is posing a risk to others. Edgemoor care goals revolve around the development of trusting relationships with patients to be able to exert some influence and to be creative. Through these relationships, caregivers try to anticipate what they might do next and try, just try, to make life a little safer and better.

Behavioral management is another challenge. Behaviors that are particularly troubling revolve around: violence or aggression; sexual acting out; perseveration on smoking; symptoms of anxiety, depression, and social withdrawal; impulsivity; and refusal of care. Violence and aggression occur most commonly among male patients in the middle stage of the disease, and generally among those who are ambulatory and psychotic. These patients can attack without warning; unaware staff and patients have suffered injuries. Management of aggression consists of a combination of medications (generally, antipsychotics, benzodiazepines, antidepressants, and mood stabilizers), patient approaches (leaving patient alone when frustrated, not challenging ideations, not pushing too hard against “no” answers), and managing the environment to reduce triggers.

In two cases, the violence was so severe that the patient could not be cared for in our setting. Most of the patients with HD at Edgemoor take psychotropic medications, including 96% of current patients and 62% of former patients. Many use benzodiazepines or antipsychotics to palliate both the psychiatric distress of the illness as well as the chorea. In our patient cohort, depression is the third most common psychiatric diagnosis. Among the 24 different psychotropic medications prescribed for our HD patient cohort, 63% of these are antidepressants.

Psychotropic medication management can be challenging, as there is no real consensus on which drugs work for which patients or which behaviors. It is effective to use a process of trialing and monitoring pharmacological interventions. End-of-life decision-making can be problematic for families and staff. Edgemoor physicians promote the provision of supportive and palliative measures for patients with HD by prescribing hand feeding rather than enteral feeding, and recommending that patients are not hospitalized or resuscitated.

For the entire cohort, about three-quarters of the patients and their families selected supportive care. Among the current cohort, 38% want resuscitative efforts and hospitalization provided, including intensive care unit–level care. Some of these patients are mute, with almost no interaction with the environment. When dealing with patients with reduced capacity to provide consent, and families having multiple family members affected (and perhaps themselves), these family members may experience guilt for “not doing everything.” This can result in their selection of more intensive interventions than are clinically indicated. Repeated conversations with families often result in modification of resuscitative status at the end of life, with a focus on “dying in place” in familiar surroundings.

Final Thoughts
Patients with HD challenge an institution in unique ways. Facilities that wish to care for patients with HD need to be committed to thinking differently about their clinical management and effect on other patients. Because of our history and experience, Edgemoor staff has developed experience and expertise at working with patients with HD to maximize quality of life. Edgemoor has significant resources that include onsite physicians, a low turnover rate among nursing staff, access to a psychiatrist and psychologist, and a distinct-part hospital level of reimbursement that supports extra staffing and customizations that these patients require.

Aligning the expectations of the families, educating them about the expected course of the illness, and collaborating with them to optimize efforts require repeated and skilled conversations. With a wide variety of therapeutic resources and person-centered care, our staff focuses on providing innovative care to restore or maximize the functionality of each patient. Maintenance of autonomy and quality of life for as long as possible is paramount for patients with HD. We at Edgemoor anticipate continuing to learn more as we more carefully study our patients with this devastating condition.

The authors report no relevant financial relationships.

Dr. Ferrini is Medical Director, Ms. Hilleary is Assistant Deputy Director/Administrator, Dr. Gibson is a Psychologist, Ms. Chu is Assistant Director of Nursing, and Ms. Beecham is Director of Nursing, Edgemoor DP SNF, County of San Diego, CA; and Dr. Dellefield is at the VA San Diego Healthcare System.