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
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 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 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
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.
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
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.
|Table 18: End of Life Issues|
- In-home versus outside care
- Gastrostomy tube feeding
- Life sustaining emergency measures (e.g. CPR, intubation)
- Use of antibiotics to treat infections
- Other specific care issues (e.g. treatment of other ongoing health
- Guardianship, substitited consent, and "living wills"
- Autopsy/brain donation for research
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
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.