Driving

All patients with Huntington's disease eventually lose the ability to drive. This can be a severe blow for some patients, who see driving as a sign of competence and a way of maintaining independence. In many cases, patients, with the help of their families, will realize the time has come and will voluntarily stop driving, often before their physician has come to this conclusion. Other times, however, the issue of driving can become a source of contention between patients, families, and physicians.

People with Huntington's disease can be divided into groups on the basis of their driving abilities. Some mildly affected patients may have no significant problems and simply need to remain alert and not drive when very tired, after drinking, or under hazardous conditions. Most moderately to severely affected patients are not safe behind the wheel. A large number of patients occupy the middle ground; they may have mild symptoms, but the safety of their driving is uncertain. The physician should ask family members who have driven with the patient for their impressions, and should inquire about recent accidents and traffic citations, including those that were "someone else's fault." Some patients minimize their disability. A formal driving evaluation, at an occupational therapy or rehabilitation center may be available and can help both physician and patient by providing objective information about the individual's performance.

In a situation in which a patient has become a hazardous driver and is unwilling to stop, or lacks insight into the degree of impairment, the doctor must intervene forcefully for the protection of the patient and others. We have found it useful at such times to give the patient a "doctor's order" rather than a suggestion, and to tell the patient that the instruction to stop driving will be documented in the record.

Some states may require physicians to notify the Department of Motor Vehicles if a patient is no longer safe to drive. In other states, physicians may be held liable if they make such a report without the patient's consent. Family members, however, are not bound by such constraints and should contact their Department of Motor Vehicles if they feel the patient is dangerous and will not listen to reason. This is a very unpleasant responsibility, but it must be shouldered. Such reports have been made anonymously at times, to preserve harmony.

Smoking

Smoking sometimes becomes a problem for people with Huntington's disease, for two reasons. Changes in the person's behavior related to disinhibition, personality changes, and perhaps boredom may turn smoking into a consuming passion, leading to irritability and even violence if thwarted. Simultaneously chorea, impairment of voluntary movements, impaired judgement, and diminished capacity for self observation may make the act of smoking unsafe.

A variety of approaches have been helpful in decreasing the behavior and improving safety. Non-pharmacologic interventions include the establishment of smoking schedules and general safety measures such as ensuring that the patient does not smoke in bed, limiting smoking to rooms without rugs, and use of adaptive devices, such as a flexible tube smoker or a "smoker's robot," available through rehabilitation supply and safety product catalogs (see Appendix 3).

We have also used nicotine patches with some success. The goal is not necessarily to wean the patient completely off cigarettes or patches, but to decrease the drive for cigarettes, and the periods of nicotine withdrawal, which may worsen irritability. A variety of the antidepressant buproprion has also recently been marketed for use in smoking cessation and may be worth a try.

Sleep disorders

Sleep disturbance is a common problem in Huntington's disease, and can be due to a variety of causes. A complaint of sleeplessness may be due to a mood disorder, either depression, or, less commonly, mania. In these cases, treatment of the mood disorder should lead to a normalization of sleep. The clinician should conduct a careful interview and speak to the patient's family to rule out this possibility.

Good sleep hygiene is also important. Patients who do not have enough to do, and whose days are insufficiently structured may develop a reversal of the sleep-wake cycle in which they nap most of the day, and are then awake at night. This pattern tends to reinforce itself and can be hard to interrupt. Helpful strategies include sleeping consistently in a room which is not used for wake-time activities, having a regular bedtime and waking time, and enrolling in a day program, which keeps the patient occupied and prevents daytime napping. In the later stages of illness, patients may have an increased need for rest and daytime napping may be entirely appropriate, as long as the patient is sleeping at night.

Some patients will require pharmacologic treatment of their insomnia. We would caution against long-term use of benzodiazepine or barbiturate hypnotics because of the potential for tolerance, dependence, and delirium and usually prefer to use a small dose of a sedating antidepressant such as trazodone (Desyrel), beginning at 25-50 mg and increasing to about 200 mg as necessary. Sedating tricyclics such as doxepin (Sinequan) or amitriptyline (Elavil) can also be employed, but are highly dangerous in overdose.

It is not entirely true that chorea ceases when patients are asleep. Sleep studies conducted in patients with refractory insomnia have suggested that some Huntington's disease patients have restless sleep because of a large amount of involuntary movements at night. The patient himself will often be unaware of these nighttime movements, but they will often be reported by the spouse or caregiver. A small dose of fluphenazine, haloperidol (0.5-2 mg) or clonazepam (0.5-l mg) at bedtime, may suppress the movements sufficiently to allow more restful sleep. Polysomnography or referral to a sleep disorder center may be helpful in these difficult cases.

Painful leg cramping caused by dystonia and spasticity can also disrupt sleep. Treatment with a muscle relaxant, such as baclofen may relieve the problem.

Incontinence

Most patients with advanced Huntington's disease are incontinent, although this may be minimized with regular toileting. Although urinary urgency, leading to intermittent incontinence may occur earlier in the course of the disease, this is not a typical finding, and should be evaluated further before attributing it to Huntington's disease alone. Causes may include neurogenic bladder, urinary tract infections, urinary retention due to anticholinergic drugs or tricyclic antidepressants leading to overflow incontinence, sedation or immobility caused by neuroleptics or sedatives, depression, dementia, or mechanical problems. Urologic consultation may be helpful in defining the nature of the bladder dysfunction and obtaining specific recommendations.

Disability

The progressive nature of Huntington's disease will eventually force patients to retire from employment. Unfortunately, many patients' job performance will already have begun to deteriorate before they have received a diagnosis, or before they have made the connection between Huntington's disease and the problems they are having at work. The actual difficulty is most often a problem of organization, flexibility, and the speed of mental information processing, but the patient may appear careless or lazy, may be irritable at work, or may even be suspected of being intoxicated. This may lead to an individual being disciplined, passed over for raises or promotions, or even fired for cause when in fact the problem is a medical disability due to Huntington's disease.

Therefore, early identification of Huntington's disease-related problems at work is very important, for the purposes of securing accommodations at work, and eventually disability. There may also be issues of work safety. A physician or social worker may be able to help the individual inform superiors at work of the nature of the problem, decide when to take retirement, and navigate the disability application process. In our experience, many employers are sympathetic once informed, and have provided less stressful work environments and assistance with disability retirement. The Americans with Disabilities Act may protect individuals with Huntington's disease who need accommodations, but are still able to work.

Once the decision to apply for disability has been made, the physician will need to complete the Social Security Disability Determination Form, as well as forms related to private policies the patient may have. We have included a sample disability letter in Appendix 5. Huntington's disease is a complex condition and the patient may be unable to work, but may not have a single sign or symptom which, by itself, would qualify her for disability. Therefore, disability letters must be comprehensive, must stress functionality, and should include specific examples of dysfunction at worlc. Because of the particular nature of the dementia found in Huntington's disease, routine IQ test scores may not be relevant to the level of impairment because they do not reflect the organizational and task-switching problems found in Huntington's disease. Tests specifically directed toward executive function will better identify HD-related cognitive deficits.

End of life issues

It is important to discuss issues related to the end of life before someone with Huntington's disease loses the I ability to communicate. By discussing the expected changes in advance patients can plan for the support that they and their families will need, and can have a discussion with their family and physicians about which medical treatments and interventions they think they would like to undergo, and which they would prefer to have withheld when they reach the late stages of the disease. By the late stages of Huntington's disease affected individuals will have little control over voluntary movements and may not be able to walk, talk, or eat. Chorea may be suppressed, or may be severe.

Death, when it comes, is usually due to the consequences of the immobility, general debilitation, and malnutrition. Pneumonia, and heart failure are typical immediate causes of death.

Huntington's disease patients and their families have a number of important decisions to make about this phase of the illness. The first concerns where the patient will be cared for. Some people wish to spend their last months at home, and receive terminal care in this setting, but others require the services of a nursing home for the final phase of their illness. This may make the patient more comfortable and relieve stress on the family.

Patients and their families must decide which treatments they want if they become acutely ill, such as antibiotics for pneumonia, or CPR for a cardiac arrest. Patients who are unable to swallow will die if not given food and fluids by other means, but with a gastrostomy tube they may live for years. Improved caloric intake can increase resistance to infections, improve physical appearance, and is sometimes associated with a decrease in chorea. Others may not desire such an intervention, depending on their view of the quality of life at that time and their individual spiritual beliefs.

There are different legal mechanisms in every state by which patients can make their wishes known in advance, but it must be stressed that there is no substitute for good communication directly between patients, their families, and their doctors. The process should start early, so that difficult topics can be introduced gradually, in an unhurried manner, and so that the conversation can take place while the patient retains the ability to communicate.

It is also important to readdress these issues periodically. An advance directive reflects a person's ideas at one discreet interval, often several years in the past. For example a blanket statement such as "I would never want a feeding tube," made shortly after the diagnosis of HD, may be revised as the patient and family gradually adapt to increasing disability.

One must avoid overgeneralizations about "end-stage Huntington's disease." An intervention that is right for one person may not be right for another. For example, many patients who can no longer eat safely are still able to talk and are fully aware of their surroundings. In one instance a man was told that placement of a gastrostomy tube would reduce the number of aspiration pneumonias from which he suffered. He replied that eating was one of his few pleasures and he preferred to take this risk, knowing that it might shorten his life. In another instance, a teenaged girl with juvenile onset Huntington's disease had become very rigid and was unable to eat. A ward of the state, she was initially denied a gastrostomy tube by her official guardian who believed that such interventions were "futile" and "only prolong suffering." This decision was reversed when her foster mother strenuously pointed out that the girl was in no pain, was enjoying activities and family life, could still talk, and in fact had been asking for the tube all along. For other individuals, the issue of a gastrostomy tube does not arise until the patient no longer seems aware of his surroundings. In this circumstance, it often seems best to a family not to prolong the process artificially, but to support the patient's comfort and let him die a natural death.

It is our hope that when death does come to a person with HD, that this person's family will consider making a gift of brain tissue to one of the projects that study such material, which are listed in Appendix 1. We hope that, where possible, patients and families will discuss this decision with each other in advance and will also inform the staff of nursing homes and hospices of their intentions ahead of time. The cost of autopsy and transportation to and from the funeral home are usually born by the institution receiving the donation, and the brain can be removed quickly so as not to delay burial and in such a way that it does not show and will not interfere with viewing.

These generous gifts, made at a sad time, may give the person's death great meaning. Each one moves us closer to the day when no one will have to die from Huntington's disease.