Huntington's disease (HD) is an hereditary disorder of the central nervous
system. It is transmitted through a single autosomal dominant gene with
complete penetrance. Symptoms usually appear in adult life between the
ages of 35 and 45. However, persons as young as 2 or as old as 80 have
been known to develop the disorder. The disease is most often
characterized by chronic progressive chorea and dementia, without
remissions. The childhood form of HD, which affects 10% of cases and is
inherited from the father 75% of the time, and some adult variants, are
marked by rigidity rather than chorea. Psychoses and affective disorders
as well as milder emotional disturbances are frequent either prior to or
following the appearance of abnormal movements. Life expectancy after the
onset of symptoms is on the order of 10 to 20 years for adults, 8 to 12
years for children. Death comes as a result of secondary infections, heart
failure, or aspiration. There is no predictive test available and
treatment is only marginally effective.
For the HD victim, the fatal determination is fixed at the moment of
conception. Unknowing, the individual moves through life; the marked gene
lies quiescent or its slow catabolic progress is masked by the forces of
new cell birth. Then, at the peak of productivity, things go awry. At the
stage when most individuals must face the transition from youth to middle
age, the HD victim prepares for the passage from youth to death.
If the individual knows he or she is at risk, the years in anticipation of
this change can be years of dread, of silent apprehension, of noisy
emotional disarray, or of intense productivity. As is frequently the case
with a late-onset genetic disorder for which there is neither a screening
test nor treatment, individuals at risk are disease wise and doctor shy.
They know the odds from an early age and often regard the genetic counselor
with the same wary contempt the battlefield soldier shows for the
journalist -- ticking off in round numbers the daily toll of lives lost,
reducing the human struggle to arid statistics. Nor is the psychological
counselor seen as a source of refuge. Mental health workers are considered
to be only for the mentally deranged while those at risk perceive
themselves to be suffering from a physical threat.
As a clinical psychologist concerned with genetic diseases, I was
interested in exploring how the two disciplines of psychology and genetics
could pool their expertise to render a more comprehensive service to the
client. If the genetic counselor is seen only as a purveyor of
information, and the individual already is in possession of that
information, he or she will not seek counseling. In order for counseling
to be useful for well informed clients, both client and counselor must
redefine their major task to be learning to cope with what is known. The
genetic counselor or a psychotherapist familiar with genetics should be
able to help the individual "work through" (in the psychoanalytic sense)
the relevant facts. In doing so, the counselor must be sensitized to
detect the subtle psychological effects that the state of genetic risk is
likely to produce. It is my firm conviction that although individuals vary
widely in their reactions to threat, there are still communalities of
concern which cut across individual differences and these can be taught to
counselors. In knowing approximately what to expect, the counselor is
better able to listen, anticipate, probe, assure, and console.
In order to learn more about the inner world of an individual at risk for a
serious genetic illness, I interviewed in-depth 35 persons at risk for HD.
My respondents were 12 men and 23 women between the ages of 20 and 36. All
had one parent, living or deceased, affected with HD. None had been
diagnosed with HD or any other neurological disorder. All socioeconomic
classes were represented, although most were in the middle or lower middle
class. The mean level of education achieved was 14 years. The interviews,
some conducted in my office, some in the respondents' homes, were
open-ended and exploratory. What follows is a distillation of the main
themes of these interviews as they emerged -- the fears, griefs, and hopes
of persons coping with an unusual life situation. They are the stories
which would be told in the genetic counselor's office, if the door were
open to them.
Reactions to HD Symptomatology
Every disease calls forth particular images and fears in its victims and
potential victims. Cancer evokes the threat of pain and suffering;
unpredictability is the hallmark of multiple sclerosis. For the person at
risk for HD, the relevant metaphor is the time bomb. To be affected by HD
had specific meanings for most of the at-risk individuals I spoke with,
because of the nature of its symptomatology. The primary concerns for
these people were the intellectual deterioration and personality changes
wrought by the disease, the socially embarrassing choreiform movements,
regressive problems such as incontinence, and, especially, the extreme
dependency involved in becoming chronically ill.
All the at-risk individuals interviewed had known their affected parent and
had watched that parent change and decline from a familiar, healthy person
to someone somewhat unrecognizable, with bizarre movements, uncontrollable
behavior, and slurred speech. For many of the interviewees these changes
took place during the child's formative years, often leaving the child with
a distorted understanding of the peculiar transformations that had claimed
an often beloved parent.
In their adult years, these at-risk individuals still retained an image of
the illness which they had conceptualized as children. Those who had been
particularly frightened as children had especially sinister visions of the
disorder as adults. In contrast, in families in which the ill parent was
able to remain a functioning member of the family, even marginally, the
children accepted the illness with greater equanimity. The nature of the
children's early exposure to HD appeared to be critical in determining
their adult adjustment to their own genetic risk.
For all these men and women at risk no matter how mature and well- adjusted
they were to the presence of the illness in the family, the nature of HD
symptomatology seemed to strike at the core of their physical and
psychological self-esteem. The peculiarities caused by uncontrollable
movements and mental deterioration became translated for many into a vision
of a Frankensteinian monster, one who approaches others with affection but
from whom others recoil in horror. Subjects spoke repeatedly of how
"disgusting," "repulsive," "grotesque," "ugly and horrible" the HD patient
becomes. There was a particular dread of losing bladder and bowel control.
Some reported feeling nauseated at the sight of their ill parents. One
36-year-old father spoke poignantly of the horror of the anticipated bodily
It's an awful thing to look at your kids and wonder if some day
they're going to look at you like some kind of monster . . . just to look
in a mirror and see yourself change like that. To look in people's eyes
and see how they're afraid . . . and they'd shy away from you and you'd
feel hurt. Years ago, you used to read how they'd burn people with HD at
the stake and things like that because they were possessed by the devil. I
can sure see why they would think so.
Despite the ghastliness of those visions, for all but two at-risk
individuals interviewed the most frightening aspect of HD was not the
uncontrollable movements but the loss of intellectual capacities. A 35-
year-old woman expressed the group's consensus, "You can live with
jerkiness but you can't live without your mind." Another woman had a
recurrent dream that her head was turning into oatmeal. Nearly all talked
of "becoming a vegetable," "stagnating," "going crazy," "having your mind
garbled," of not being able to communicate, and of the terror of ending
their lives in a mental institution.
Then I saw my mother in the institution with other mental patients.
You can imagine what it was like for me to go in there. That's when the
severity of it really hit me. I realized it wasn't just like going off to
school and playgrounds, fine and everything. Seeing the bars on the
windows, I thought, "My God! Why do they need bars and everything" [woman,
Many at risk had parents who became paranoid and delusional as the disease
progressed. One man spoke of his horror and fear of mental illness after
seeing his aunt who was affected with HD. All the respondents talked of
personality changes and severe personality disturbances in the affected
parent, sometimes antedating the diagnosis of the disease by more than 10
Perhaps because most of the respondents were in the prime of their
productive years, with newly achieved independence, the threat of extreme
dependence on others as well as anticipated abandonment was another
anathema associated with the illness.
I worry about being a burden on my family financially. Here's a
guy who could've had everything but he's got somebody with HD. It'll take
all his money and all his time. I guess mostly I think of how he's going
to feel about it. This is why I want to fight; to fight for him. That's
horrible for the person who doesn't have it and loves this person [woman,
The prospect of prolonged dependency and deterioration often made single
people despair of marrying while those married considered immediate divorce
when they learned of their risk. The single people questioned whether
anyone could ever love and value them enough to want to share that risk. A
22-year-old woman felt her anticipated loneliness to be one of the worst
aspects of the disease.
I guess, the thing I feel bad about on my part, the part I really
dread, is having boyfriends see [my mother], 'cause I am very open about
what it is and the fact that it's genetic and everything. And I think,
wow, if they see how bad it is, it's just gonna be, "Forget it, baby." . .
. It's not being terrified about having it sometime way in the future, like
at the age of 35, it's always even when I was in high school, the thought
of, oh, I'll never get married and, oh, I'll never be able to, like, it's
never bothered me too much the idea of not being able to bear my own
children, like I wouldn't mind adopting, but the thing of no one will marry
me and the whole thing of being an old maid type of thing. It's really
scared me more than just thinking about having the disease.
Those who were married wanted to protect themselves against the trauma of
being left if they should become ill. Both groups fantasized taking active
control either by not marrying or by divorcing; both felt that so great a
burden of responsibility should not be inflicted on someone they loved.
My problem is that all my aunts and uncles have divorced their HD
victims. I think it's just awful! The first thing I said was that if you
want a divorce, divorce me now because I'm not living alone when I'm sick!
[Notice she says "when," not "if."] [woman, age 23]
One of the most frequently voiced fears is of choking and starving to
death. Although this is a concern based on reality, it is as if the
anticipated emotional abandonment qua starvation is also verbalized in
these physical terms.
All of the interviewees were painfully aware that the disease is terminal,
but for them termination comes not at the moment of death but at the moment
of diagnosis. Most fantasize the period following diagnosis to be a
prolonged and unproductive wait on death row. The optimism or pessimism of
at-risk persons is directly related to the kind of care they perceive their
ill parent to have received, regardless of the severity of the symptoms.
When the sick parent is kept at home, or in a good nursing facility, active
and a part of the community, the specter of the disease is not nearly as
None of the at-risk individuals mentioned feeling afraid of death, per se.
On the contrary, death is often cited as a welcome relief from life with
Q: What is the least frightening symptom of HD?
A: Probably that you die is the part that scares me the least. It's
almost more human than the part where you live. I know it is a fatalistic
outlook but I can't help it, sometimes. After seeing my aunt for seventeen
years -- she couldn't even roll over in bed -- I definitely feel that dying
is a relief [man, age 36].
Many subjects did not wish to wait passively as nature took its course.
Approximately half the sample felt that they would seriously consider
suicide as an option if and when they started to deteriorate. Most of
these individuals came from families in which the ill parent had made at
least one suicide attempt. (There were no completed suicides among the
parents.) Others insisted that they would never consider suicide but they
could understand how others might. One man, age 30, had what he called
"death insurance." He had vowed to commit suicide when he was no longer
able to function. If he was not aware of the severity of his
deterioration, or was unable to carry out his plan, he had made a pact with
his brother that each should kill the other, should it become necessary.
Some subjects who did not consider suicide as a viable option expressed the
wish to be institutionalized at the point when they were no longer able to
lead useful lives.
Genetic Disease and Family Dynamics
It is impossible to understand fully the impact of HD on families without
an appreciation of the complexities which its hereditary nature imposes.
Every disease can arouse images of body damage and destruction; each can
awaken fears of dependency and rejection. But only if the disorder is
hereditary does an individual know the exact probability of contracting it.
If the disease is an hereditary disorder of late onset, the individual has
most likely witnessed the illness in parents or close relatives. Each
individual must take the responsibility for risking passing on the disorder
to future generations or refraining from procreation. Such hereditary
illness can have repercussions throughout three or four generations
simultaneously and have impact on parent-child identifications at each
generational level. The history of the disease within the family has
crucial ramifications for all those family members who are still
genetically vulnerable. In fact, much of the working-through process which
an at-risk individual must undergo to accept the illness is often expressed
in terms of responses to other family members.
The first reaction which most individuals at risk reported when told of the
presence of HD in their immediate family was an overwhelming concern and
grief for the afflicted parent. If they already had children of their own,
they also felt great sadness, protectiveness, and guilt toward the child.
The most common immediate reaction was, "What have I done to my child!"
Not only were they genuinely concerned for the welfare of the children, but
the at-risk parents' own fears for themselves could be much more acceptably
expressed in terms of anticipated calamity for the child.
The fact that hit me the most -- I used to cry whenever I looked at
my son. I was afraid. Like, I was scared. I remember a real bad
emptiness in my heart [woman, age 23].
Because of the late onset of HD and frequent inaccuracies in diagnosis,
many of the people interviewed had not learned of the hereditary nature of
their parents' illness until they themselves had had children. Six of the
women were pregnant when they learned of the risk to themselves and to the
unborn child. (Only two were in the first trimester and both decided to
carry the baby to term.) One 28-year-old mother of two small children
described her reaction on learning that her mother's disease was
I went through a bad depression for about two weeks . . . I'd sit
there and cry because I'd think of how I might miss everything my mother
missed. She never seen us married or have kids. She knows we have kids.
I want to be a grandma . . . I told my husband I wanted a divorce so he
could get out of the legal stuff -- let the state take care of you. I'd
tell him who I wouldn't want to watch the kids and who I would want. I
wouldn't care if he'd get married again and have another woman to raise the
kids so long as she loved them; so I would know they had a mother. I want
to be home as long as possible but when the day comes, I want to be put in
a nursing home . . . It was mainly the kids and how much of their lives I'd
miss, depending on how old I was if and when I got it. I'd cry if I
thought of any of their graduations or getting married. Anything like that
would bring on a tear-jerk. And, of course, me not being there mainly for
both of them. Then, after the two weeks I just snapped right out of it
like I went into it. I've never given it another thought. I've done said
everything like I wanted to.
In most normal families it is common for a child to hear, either in humor
or in anger, "You're just like your mother, or father!" For the at-risk
individual such a remark has an added impact. Whatever emotions at-risk
persons experience toward the ill parent -- tenderness, compassion, pity,
disgust, resentment -- may someday be the very feelings their own children
experience toward them. As they watch their parents they watch themselves;
all emotions rebound.
What was upsetting was that here I'll be watching my Dad and maybe
be watching myself. I felt I couldn't feel sorry for myself because I had
to feel sorry for him. Yet here I was and nobody was going to feel sorry
for me. I'd get mad at myself for being selfish [woman, age 25].
Frequently the person at risk becomes the confidante of the well parent who
pours out grievances over the ill parent. The at-risk offspring is
sometimes forced to mediate between the two. Often the child seeks to
identify with the well parent and feels hostility for the sick parent for
causing so much grief. Alternately, he or she may identify with the sick
parent and experiences himself or herself as the potential recipient of the
well parent's complaints. The child often urges the well parent not to be
a "martyr" -- not to sacrifice life and happiness because of the ill
parent. Children frequently must listen to suicidal temptations of both
parents. And yet while they say aloud that neither they nor their
relatives should devote their whole lives to the sick, they usually are
well aware that they are encouraging the same dreaded abandonment should
they themselves become ill.
If parents with HD were particularly psychotic, violent, or unavailable, it
becomes even more difficult for those at risk to cope with the prospect of
getting the disease. They experience the possibility of possessing the HD
gene as signifying that they would literally turn into their parent -- a
kind of cloning after birth. This fear seemed particularly powerful when
the same-sexed parent was affected.
I had the impression that HD was like what my mother was. I was
ready to pack my bags and leave. If we wouldn't of stayed and talked to
that social worker for two or three hours, I probably would have left. I
really thought it was like what my mother was. I didn't know there was
symptoms and all that stuff. When I found out I wasn't going to beat my
kids, be mean and jealous, I calmed down. I didn't want to be like my
mother to my kids; I'd sooner left [woman, age 28].
The dilemma of identification in a family affected by genetic disease has
many complex ramifications. In the group interviewed, all of the at-risk
individuals had had strained and disagreeable relationships with the ill
parent for some time prior to the diagnosis of the disease. To most, the
medical recognition that the parent was truly ill -- apart from the
hereditary nature of the illness -- came as a welcome relief. The rage and
disappointment they felt over the parent's inadequacy could thus be
directed to something external -- a sickness -- for which neither parent
nor child was to blame. The parent was not cruel, ill- tempered, or
inconsistent because of a failure on the child's part, nor could the parent
be held accountable for performing destructive and hostile acts. The
child's guilt over murderous feelings harbored toward the parent was
dissipated, but in its stead came fear. They reasoned that if HD caused
behavior in the parent that was beyond control, might it not also cause the
same behavior in the child if the child manifested the disease? This
concern was especially felt by those individuals who witnessed a radical
change in their parents from being loving and affectionate to being
irritable and withdrawn or psychotic.
But I think really, the thing that really scares me the most is I
know, despite all my determination to hold myself together and be a
pleasant person to be around, I fear that having the disease will make me
lose that control and I'll turn into a shrew like my mother. And that will
be what will alienate me from people. And that will be against my control,
even though I won't want to do it. Like I see she does things that she
doesn't want to do, but she can't help herself [woman, age 22].
The most reasonable resolution of the dilemma, and probably the most
accurate, was for the individual at risk to perceive the ill parent as the
victim of circumstances and background. At least the at-risk child did not
share the parent's early environment. The real culprits thus become the
grandparents and anger can be safely deflected from the parent. The
grandparent is also to blame for passing on the gene, and both parent and
child become the hapless victims. Yet, while the parent has succumbed to
his or her upbringing, the child fervently hopes to transcend environment
and become quite different from the parent.
When I first heard about it, I thought, "My God! She's gave me
something else!!" I was bitter with my mother. Then, all of a sudden I
started getting into her background and stuff [woman, age 23].
Remarkably few interviewees expressed conscious anger toward the parent who
had given them this legacy. Compassion and grief were by far the most
common feelings. It was considered in particularly bad taste to harbor
hostility toward a parent who was already broken and ill. However, the
child covertly disavowed the parent by trying to become as different as
possible. Frequently, anger was turned against the self and expressed in
depression. The following reaction of a young man, aged 20 when he learned
of the disease, is quite typical.
I was angry and enraged [when I first found out about HD], you know
-- gee, what a terrible thing! Just then, my mother died from it. I grew
up with it in my family. To think, I might have the same thing someday, I
don't even want to be sick a day with the flu or anything. I haven't
missed a day of work in three or four years. I just try to stay as strong
and healthy as I can. I think about it all the time. Not all the time but
like when I go to church on Sundays. I pray, you know, give me strength
and health. That's all I ask. I can take everything else from financial
ruin to losing all my friends. As long as I've got my health, I can come
through. I don't like to be sick and a burden on anybody. I just want to
take care of my own life. I don't want to be on welfare. That's a
terrible thought. It could happen. It'd be terrible if it does.
Q: When you think of HD, what do you think of?
A: I just kind of think your body'd waste away. You're just
probably tired all the time from shaking. That's a lot of physical
exertion, I'd imagine, moving all the time. It'd really take it out of
you. In a couple of years, you'd be exhausted. I try to keep my weight
up. I'm kind of over-weight for my size. I like that. I want to be heavy
and real strong. The charts recommend 140 lbs. for my size. I weigh 175
lbs. That's fine -- I weighed 200 lbs. a couple of years ago when I first
Q: Was your mother thin from HD?
A: Yeah. Your throat or anything doesn't function right.
She'd try to drink a Pepsi and choke on it.
Q: Did that scare you?
A: Oh gee!! People probably feel like committing suicide! I
mean, I wouldn't. I want to live as long as I can. I imagine if it comes
to that, if somebody's that sick, they'd want to get a whole bottle of
Q: Do you think you would?
A: I don't know. I'd hate to just be a vegetable. That's all
you are. You don't really function any more. Maybe you should be dead.
You'd probably be so far gone that it would be better to be dead. It's
hard to say. For myself, when I'm 35 years old it could happen then. Now
I'm 24 and maybe I've only got ten more Christmases to have good times in.
Maybe I shouldn't feel that way. I might be 60 like my other aunt. I
sometimes wonder what families are like that never have it.
Mr. M's initial reaction was one of anger and outrage at his mother. He
had had to put up with her severe emotional and physical problems and now
she had passed the threat on to him. However, resolution of these feelings
was aborted by the death of his mother and the feelings were internalized.
While it is true that most HD patients become emaciated and cachexic, Mr. M
seems to fear the total annihilation of his body. It is as if the
internalized feelings of rage and disappointment will dissolve his very
physical being. He tries to counteract this anxiety with exaggerated
weight and solidity. If this defense should fail, he contemplates suicide,
particularly by "eating" an overdose of pills. Mr. M acts as if he might
wake up one morning when he is 35 and find that his life is over. He hopes
desperately to be one who escapes and then wishes, rather wistfully, to be
quit of the whole concern.
Whether or not a person feels destined either to develop or to escape the
disease has repercussions in attitudes towards siblings. A surprisingly
large number of those at risks felt emotionally convinced, regardless of
what they intellectually knew, that at least one of their sibship must
develop the disease. They considered that feeling free of the disease was
tantamount to inflicting it on a relative. One woman thought herself a
"marked target" because she was the youngest of three and her sibs appeared
to be healthy. A very thoughtful young man felt he should get the disease
because his sibs all had children and he did not.
Respondents frequently expressed the feeling that they could be free of HD
only by paying some price. One woman volunteered: "Spare me and I'll be a
good Samaritan and care for the rest." Others make more modest requests;
they wish only to be left for last. The notion of hoping that the entire
family escape altogether is considered almost too greedy to be expressed
aloud: God punishes hubris. One 25-year-old woman's dream graphically
illustrates this point.
I have always had nightmares. Now, the fear in my dreams is that
I'm being followed by someone. The last one I had was where my friends and
relatives were in a big room, a big house. There was this one man. I
could see him but I couldn't warn anyone. He would go up to them and stick
pins in them. When he stuck enough pins in you, you died. He was
eventually going to come back to me but he was going to leave me until the
end and get all my friends and relatives first. I couldn't stop him from
"Waiting for Godot"
One of the most psychologically unacceptable notions which confronts the
individual at risk is to be the passive victim of a totally random genetic
accident. One 28-year-old woman described being at risk as "playing
Russian roulette with a two-barreled gun and somebody else's hand on the
trigger." Subjects perceived their lives and their universes as conforming
to the laws of cause and effect; true randomness was either unacceptable or
unassimilatable on more than an intellectual level.
Surely they are not unique in this way of thinking. In general parlance we
speak of "chance" in the context of being "lucky" or "unlucky" -- a
personal attribute which, as it were, controls chance and mitigates against
randomness. When an individual has been the victim of a violent crime,
others often respond with accusations instead of sympathy. The victim is
considered to have covertly incited the crime through some careless or
inappropriate behavior. Even the victim often feels ashamed and
self-recriminatory. The advantage to this way of thinking is that the
crime can thus be attributed to a specific action that then can be avoided
by others in the future. If disaster, either natural or man- made, is
truly random, then we are all and at all times vulnerable. Some, like Mr.
M, manage their fears by turning to a higher order of control and
explanation in the medium of religion. God can be influenced through
prayer and good deeds. If He should choose to inflict the disease, then it
is not randomly assigned but made meaningful through God's will.
On an unconscious level, many of the at-risk respondents view the
transmission of HD in the context of crime and punishment. This feeling is
especially fostered in families where the illness is regarded as a family
curse and not discussed. To them, it is truly that "the sins of the
fathers are visited upon the sons." Sometimes the "crime" stems from anger
toward the ill parent or from the forbidden wish that another relative
inherit the disease instead. A few subjects communicated a Kafkaesque
sense of bewilderment at their feelings of guilt. A 20-year- old girl
stated this explicitly;
It seems that so many things have gone bad in my life that with
this HD thing, well, it almost seems like I must have done something wrong
somewhere to deserve all this.
If an at-risk person is violent, moody, suspicious, jealous, or
disagreeable, it is considered as an ominous sign that the disease is
developing. The disease is sometimes considered as just punishment for
these unpleasant traits. At-risk individuals often develop complicated and
constant systems of monitoring themselves in mood and movement. They
continually check their hands, gait, memories, and emotions, not really to
identify the disorder if it occurs, but in order to exert control over what
may be happening to them.
Sometimes I hold my hands out to see if my fingers wiggle . . . I
just hope they aren't shaking and I can control them. Usually I'm really
cool about it. It just seems like maybe tense people are nervous people
and it looks like a mild case of it. They get scared that way . . . I
guess, maybe, I always try to walk straight with a good posture. I try to
see if I shake. I don't know what it'd feel like. Sometimes I can feel my
heart beating in my body. I imagine everybody gets that. Sometimes my
heart will beat so strong I can feel my fingers move with each beat. I
guess maybe that I watch my face . . . Sometimes when people are waiting
they'll cross and uncross their legs and shake them. I try not to do that
and hold perfectly still [male, age 24].
Shortly after learning of his at risk status, one artist in his mid-20s
wrote a play in which the hero was also at risk. This fictional character
would stand in front of the mirror for hours practicing facial grimaces,
rehearsing, and thus accustoming himself through practice with the person
he might become. Through this double distancing of hero- within-a-play,
the author was trying to gain active mastery over the disease. He would go
out and claim it, as it were, rather than passively wait for the illness to
overtake him. This same man said rather ruefully that he envied his wife
"her right to be clumsy." His use of the word "right" implicitly suggests
that he considers himself to be deprived of his "rights," that is, to be
Considering that most at-risk individuals were most frightened by the
psychological aspects of HD, it is not surprising that many tried to
influence the course and even the onset of the disease through the use of
their minds. Almost every subject spoke of staving off the effects of the
disease through "strength of will."
My mother would say, "With your heritage, I wouldn't get mad like
that." In other words, don't get mad 'cause you'll go crazy. She would
say things like: "Watch out . . . don't do this or don't do that, don't
feel, don't trust people, they'll leave you." The people that got left --
they all got the disease. I got messages like: you have no right to your
feelings. You can't feel angry. If you feel scared you'd better hide it.
Don't ever cry. All of them had to do with the disease. Those were all
heavy, strict injunctions on feelings. My mother's injunctions were that
if you control your feelings well enough, be in charge of yourself at all
times, then you can control your mind and you won't get this [woman, age
The "power of positive thought" is a relief from the terrifying
helplessness of passivity for many at risk. Its liability, however, is
that the individual becomes responsible for the presence or absence of the
disease. To develop the illness means failure of control or failure of
I've made my prayers and asked to not get it. I have strong faith
but it's not that strong in that area. I have really strong faith. I can
ask a prayer and sit there and wait. But this thing is so powerful that I
need a stronger faith. Maybe, eventually, I will get that. Faith might
save me. You can ask a prayer but if you haven't got faith, then it won't
get answered [woman, age 36].
Subjective Prediction: Second Guessing the Unknown through Magic
Although the laws of probability predict that approximately half the
individuals will eventually develop this disease (disregarding sampling
bias possibly introduced through the use of volunteers), three-quarters of
the respondents felt certain that they would become afflicted. Nearly all
those who felt that they would not develop HD as well as those who thought
they would, expressed magical and highly unrealistic reasons to support
their beliefs. Only a very few of those who were convinced that they would
remain healthy gave as evidence that they were in their mid-30s and had
been symptom-free on repeated neurological check-ups. One woman in this
latter group was afraid to put her optimism into words, however, for fear
it would be "bad luck." Others in the group who felt they had "escaped"
gave far less reasonable explanations.
Typical of their responses was that of one man who was sure he would escape
the disease because he had "always been lucky." He also considered himself
to be somewhat psychic. (This man had been told by his older sister that
every third child manifested HD; naturally, he was the third child.)
Those who felt certain they did harbor the defective gene had equally
magical and unrealistic explanations: they had always been unlucky at
lotteries, or everything else bad had happened in their lives. One woman
felt that "the genes would have been stronger in the first conception" and
that as the eldest she would certainly get it. A rather more powerful and
subtle argument was that they looked or acted like their affected parents,
that is, were nervous, moody, irritable, etc.
Probably the most common dynamic operating in those who felt convinced they
would develop HD was the attempt to combat the passivity of waiting through
active control. As part of that activity there was also a frequently
implied magical belief that if they "sacrificed" themselves to the disease,
they would be rewarded by being spared. Like Abraham with Isaac, their
devotion to their siblings, their humility, their unselfishness, and their
willingness to suffer was being tested and at the last moment they would be
reprieved. On an unconscious level, genetic randomness is seen as mediated
by a moral universe. Consciously, many subjects expressed the feeling that
if they expected and prepared for the worst they could only be surprised by
All of the subjects firmly believed that a predictive test should be
developed, regardless of their own hesitations to utilize it.
Approximately two-thirds of the subjects said, with varying degrees of
conviction, that they would take a predictive test. Reactions ranged from
thoughtful realism to bravado; all acknowledged that they would be
terrified to avail themselves of the test. Some subjects responded as if
they felt they ought to want to know, while others were adamant about the
importance of being able to plan realistically for their future. For the
latter, the ambiguities of limbo were psychologically more difficult to
bear than the certain knowledge that they were carrying the HD gene. All
suggested that counseling be made available with the predictive test. In
this way subjects and their families could be aided in coping with
emotional reactions and other repercussions both before and after taking
Those who would not take a predictive test were vociferous in their wish
not to know their genetic inheritance. Some said they would take a test
only if there were successful ways to treating the disease. They clung to
their 50-50 chances and would not want to risk losing them. One 23-
year-old woman best expressed the feelings of many at risk, as follows:
Q: If there was an accurate predictive test available, would you take
A: Really, no, but knowing myself I probably would.
A: For the fact that it's a step forward. For the fact that if it's a
crisis, God, get it over with. I'm so tired of wondering. If they would
tell me that I wasn't going to get it, they could take my arm off! What if
they do tell you you've got HD, how do you live with that? Like, if they
were to say to me today, "You're going to get HD when you are 30," do you
know what every day would be like? Every day would not be a real life . .
. I just couldn't live with that. Now, at least I have a 50-50 chance;
knowing and not knowing. I can live with that. Now, I have optimism.
Then it would be real.
Q: Do you think scientists ought to develop such a predictive test?
A: It would be good for science to have a predictive test but it
wouldn't be good for the HD victim. Can you imagine knowing that there's
some place you can just walk into? Every day, that would prod your mind,
"I'm going. I'm going. Just for the sake of science, I'm going. For the
sake of knowing, I'm going. I can't stand it anymore." Then all of a
sudden, having somebody tell you you're going to have HD. I think this
would prey on their minds and everybody would probably go. But they really
wouldn't want to.
Family Planning and Prediction
One-fourth of the at-risk individuals interviewed had children after
learning of the hereditary nature of the disease. Most subjects had
already established families before learning of the genetic nature of their
parent's illness. Of this latter group, the majority claimed that had they
known, they would have chosen to adopt children. Many of those married
without children, however, wanted their own. There were indications that
several in the group with children had known at some level that the disease
was hereditary, but did not acknowledge this awareness until after their
children were born.
When we were kids, we didn't know what was wrong with them but we
knew all three of them were alike. They walked alike. They smoked alike.
They moved alike. We promised each other that if we ever got like that we
were going to come and kill each other. We knew it was something bad
[woman, age 28].
Only two childless subjects, a 24-year-old male and a 25-year-old female,
had been sterilized; others were sterilized after creating a family. Over
half of the single people at risk had decided not to have their own
biological children, unless this decision prevented them from marrying the
person of their choice. Many in this group were deeply concerned about the
impact their decision not to bear children would have on their
marriageability. They felt that being at risk in itself made them
defective and denying their future spouse natural children made them even
less desirable as marriage partners. Yet to be single and forced to cope
alone with HD was a prospect filled with horror. An exceptionally
attractive 22-year-old woman articulated one of the primary concerns of
persons at risk.
Q: Do you think that maybe you turn away some of the men who are
interested in you?
A: Well, I have had this feeling. When I meet somebody who's super
intelligent, super good-looking -- this guy should have kids; this guy
should propagate his kind. This guy wouldn't want to adopt. I do think
about that. And having the guy smarter than me is an absolute requirement
and that's something that I'm not willing to compromise. But having a guy
not too good looking is one thing I even search for. Number one, because
then he won't feel like, oh, I'm so good looking I've got to have a whole
bunch of me's running all over the world. And also, I feel like I'd be
able to hold him easier, be able to trap him easier. Which is kind of a
whole bad syndrome that I'm in . . . I think, wow, since I'm at risk, I'm
less attractive as a possible mate, so I've got to compromise somewhere,
give up something of my desires for a mate. So, I'm not willing to give up
personality or strength or the intellectual capacity, so the one thing
that's left is looks. So I'm sort of hunting for some ugly guy (laugh). I
think the worst part is that no one will marry me and I'll have to be
alone. I guess it's the fear of having HD and being alone at that point,
and being abandoned by all my so-called friends. But that could happen
with a spouse, too. I guess that's why having a sister is a real comfort,
because I don't think she'd abandon me.
To marry and have children means to these individuals to lead a normal
life. It strengthens the normal denial that anything may be wrong. If
people at risk choose to forego having children or choose to adopt, they
are acting as if the illness were a certainty. The woman who had a tubal
ligation rather than risk passing on the gene felt she was "damned if she
did and damned if she didn't." If she tried to accept the fact that she
had been sterilized, it meant to her that she had HD; if she thought that
she might remain healthy, she could not bear the thought that she had had
herself sterilized for no reason. It was extremely hard for her to act in
one circumstance as if she would have HD and take appropriate precautions
and still maintain the belief that she could as likely be well. Childless
subjects feel that they are faced with the choice of guilt or
self-deprivation. To alter one's life to the extent of foregoing natural
children means to acknowledge genuinely the reality of being at risk. Many
genetic counselors report being surprised and disappointed by how many
at-risk individuals have children. These counselors fail to realize the
symbolic and magical significance of the child as an insurance of the
parent's continuing health. It is also true that many at-risk persons are
being asked to give up one "route to immortality" through their children at
the same time that they are coping with their own potential death. If
genetic counseling involved more in-depth counseling over a greater length
of time, perhaps more at- risk couples would choose to adopt. The fact
that many adoption agencies consider a person at risk not a suitable parent
creates additional complications and emotional stresses.
Learning to Live in Limbo
There is an existentialist maxim that one cannot be really free until one
has come to terms with one's own death. In their own words and through
their actions, many of these at-risk individuals expressed this feeling:
"If I can't live quantity, then I'll have lived quality." For some, of
course, the potentiality of a reduced life span became translated into a
constriction of their current lives and an unwillingness to take risks.
We're always talking new house. I don't know if it's good or bad
but I always turn him off. In my opinion, we're living comfortably now and
I can't see moving into a new house. I'm afraid to take a step into the
future. I just can't talk about the future because I don't really believe
in the future. I'm just living now. When somebody talks of the future, I
just turn myself off. I don't believe I'm going to be part of it. If it's
going to happen, I don't know how because I'm afraid to make a move [woman,
Most of the subjects were not as reluctant as this woman to plan for the
dream of the future. All, however, shared her feelings of urgency, her
emphasis on living for the here and now.
I'd say I started feeling an urgency to live; do everything right
now and not wait for everything. I think I lived in the future a lot. It
made me feel more pushed to finish school. That was always a dream of
mine. None of my relatives had ever been to college [woman, age 33].
I mean, it's always in the back of your mind. The least little
back-slide you have, you think about it. That's why I get depressed
sometimes. If something doesn't turn out as I expect, I think maybe there
won't be another chance. I don't think that very often. Sometimes I do
[woman, age 36].
I feel there is no way I can escape it. I have to make my mark by
a certain period of time. I have to do something very important with my
life and not waste it. There has always been a sense of urgency in
absolutely everything I've done [man, age 30].
There are times when I think about it but not when I'm dancing. I
think that I love to dance so much. I dance every day -- I just dance. I
think about this -- what am I going to do if I do have it? Because I
really love to dance. I love to just be moving around. I've just kind of
felt that I've got to get it all out of my system. If I can just dance now
while I can and try everything I want to try [woman, age 25].
Many of the respondents felt that they had gained an enriched perspective
on life in living more for the here and now. They questioned their
previous values and felt more able to concentrate their energies on
activities and relationships that were meaningful to them. An intensified
wish to "make a mark early in life" often led to creative and productive
work and, in fact, an increased willingness to take risks. Five of the
women interviewed had gone back to school or had taken jobs which brought
them a great deal of pleasure and pride. All of them claimed that the
courage to make these changes in their lives stemmed directly from the
knowledge that they were at risk. None of those interviewed wished to
squander their lives but rather, in their own fashion, each voiced the
desire to "see life whole and see it clear."
Almost every respondent in this study could benefit from short- or long-
term counseling focused on coping with HD in the family. When at-risk
persons first learn of their own risk or when they come for genetic
counseling, there is often so much substantive information to be imparted
that there is not enough time for discussing emotional reactions. There is
also an initial shock that shields against problems that arise later. None
of the individuals interviewed had had any counseling other than that
provided sporadically and on a volunteer basis by the Hereditary Disease
Foundation, the Committee to Combat Huntington's Disease, or the National
Huntington's Disease Association. For most, their only contact with a
knowledgeable professional was their parents' physician. Genetic
counselors, they felt, focus only on issues of procreation and are not
available over a long period to discuss problems as they change over time.
Given the mobility of our society, perhaps families should be encouraged to
form an institutional alliance, a transference to an informed and
responsive genetic or psychological clinic rather than only to an
Based on my experience working with persons at risk for HD the following
counseling suggestions are offered. Although they were developed with a
specific population in mind, it is hoped that they will be relevant to many
counseling situations in which a genetic illness is involved.
1. Listen. Many at-risk individuals find that their spouses, their
immediate family, or their relatives are too involved, too frightened or
too guilty to really listen. Most persons at risk do not want to frighten
their families with their concerns. They also especially do not want other
family members to watch them for symptoms.
2. Do not minimize the gravity of their concern but offer realistic
hope. Because of their own difficulties in coping with the risk situation,
family members often brush aside the at-risk person's concerns, scoff at
them, or offer magical-omnipotent solutions. Spouses are notorious for
such statements of denial as: "Don't worry, honey, I won't let you get
it," or "It can't happen to us." Although optimism is a must, it can also
be frightening to the at-risk person to feel that the spouse cannot afford
to think it could happen to them. It means that the disease is truly too
terrible to think about. Frequently the spouse has a realistic appraisal
of the situation but a conspiracy of silence regarding the disease grows
between the couple because each does not want to frighten the other. A
counselor can be extremely helpful in guiding the individual or the couple
toward a realistic appraisal of the disorder, acknowledging the reality of
their concerns, giving hope, and thereby demonstrating that the illness can
be reasonably discussed without anybody coming to grief.
3. The fact that anyone might die suddenly in an accident is not
effective consolation. Many people will try cheering persons at risk with
statements like, "Don't worry about it, you could step off the curb and get
hit by a truck." It is true, but not truly helpful. Most people at risk
are concerned about the process of dying, not with death itself. It is
more valuable to stress the quality of life, both in health and sickness.
In this case getting HD is only a 50% risk, but many at risk make
themselves 100% miserable worrying while they are healthy. Much of their
apprehension concerns the treatment they will receive should they become
ill. Many have retained childhood visions of a "lunatic" parent, strapped
in bed, with no medication. The counselor should emphasize the new drugs
which are now available, new health care insurance which is pending, better
nursing facilities, increased awareness of HD in the medical community, and
the efficacy of physical and psychological therapy in staving off some of
the most frightening symptomatology. If the state of being ill is seen as
less frightening, anxiety will decrease. Remind individuals that a 50/50
probability means as great a chance that they will not get HD as that they
will. The likelihood that the disease will appear also begins to decline
after the 40s.
4. The counselor should remember that the state of being at risk is
qualitatively different from the state of knowing definitively either that
one will be sick or healthy. The ambiguous condition of 50% risk is
extremely difficult to maintain in one's mind, if not impossible. In
practice, a 50-50 risk translates to a 100% certainty that one will or will
not develop the disease, but the certainty changes from one to the other
from moment to moment, day to day, month to month. It can be helpful to
discuss this phenomenon with counselees so that they know that fluctuations
in their convictions are a normal part of the coping process.
5. "Symptom Searching." Every at-risk individual is continually on
the alert for any suspicious signs of the disorder. Even if they deny that
they check themselves if asked directly, many will give examples in the
course of general conversation of such self-diagnoses. Every time an
at-risk person trips, stumbles, mumbles, falls, forgets, has a car
accident, gets enraged, or gets divorced, the specter of HD is aroused for
themselves and for others. Many are so hyperalert that they make
themselves uncoordinated, frightening themselves even more. There are
at-risk individuals who practice walking on lines, walking on curbs,
controlling their handwriting, controlling their speech, touching their
fingers to their noses, and even rehearsing Serial Sevens! Others practice
how it would be to have HD. Occasionally they frighten themselves by not
knowing when the practice stops and the real thing begins. They try to
master the disease through activity in the same way that people who very
much fear "going crazy" play "being crazy." Some at risk will imitate
mannerisms of the affected parent as an indentification with that parent.
It can be extremely reassuring to explain that all who are at risk
"symptom-seek" and that most feel convinced that they will develop the
disease. The counselor should teach the individual about psychological
defenses and how they may be operating, as well as about normal muscular
tics and twitches such as myoclonic bursts and normal psychological lapses,
including especially normal forgetfulness.
6. Differentiate HD from the rest of the environment. Freud once said
that if you cordon off one portion of a city and tell the police they
cannot enter, you can be sure where to find all the criminals. The
prospect of having HD can feed into every conflict; and each problem can be
interpreted in terms of HD, rendering it relatively hopeless in the eyes of
the individual. For some it may be easier to lay the blame with HD rather
than face vulnerabilities, failures, or weaknesses that have nothing to do
with the disease. Work with the individual to differentiate realistic
concerns regarding the illness from fantasied concerns and from conflicts
which are unrelated. Most problems stem from the usually disrupted
environments in which these people have been raised.
7. Relieve guilt. The counselor should be attuned to any expressions
of conscious or unconscious guilt on the part of the client. Often the
guilt is pervasive and extends both toward the parents and toward the
children. Guilt may be over anger toward and neglect of the parent, over
envy of an obviously well sibling, over the desire to bear one's own
children, and so forth. In particular, the counselor should try to make
explicit the common belief that good or bad behavior will have an
influencing effect on whether or not the individual develops the disease.
Often the environment conspires with this belief: A 12-year- old girl at
risk was told by a police matron that she had "better behave or she would
get what her mother had."
8. Just as prediction is usually foremost in the minds of the at-risk
individual, it is often foremost in the mind of the counselor: Will this
person develop HD? In my opinion, most HD patients do not get diagnosed
until approximately 3 to 10 years or more after the initial manifestations
of the disorder. This does not mean that they are unaware of the disease
prior to the diagnosis. A well-trained observer may be able to detect
subtle neurological, cognitive, and psychological cues long before the
person with HD feels it necessary (or is pushed) to be diagnosed. What
have been thought in the past to be socio- psychological indicators of
neurological pathology may be, in fact, indicative of a psychological
reaction to a perceived change in performance, but should never be taken as
sufficient indications of the disease in and of themselves. Extreme pain,
anger, and/or an ill- advised decision to have children can result from an
inaccurate prediction of future events and counselors should avoid
speculation, even if they are optimistic. If, on the other hand, the
counselor feels convinced that the individual is not manifesting any signs
of the illness at that moment in time, it can be very encouraging for the
client to hear this opinion. Above all, the counselor should be empathic
and respond to the concerns of the client as they are expressed.