Huntington’s Disease—Understanding a Genetic Tragedy
“When Johnny and I got married, I really thought we would live happily ever after. But gradually this sweet, caring man underwent a radical change of personality. He even started to have uncontrolled, violent outbursts. In time, Johnny had to be committed to a psychiatric hospital, where he eventually died. Years later we learned that his mysterious affliction had a name—Huntington’s disease.”—Janice.
THOUSANDS of people worldwide suffer from Huntington’s disease (HD), a genetic disorder of the central nervous system. Since HD is inherited, it often afflicts more than one member of the family. “Since Johnny’s death,” says Janice, “I have lost three sons and one daughter to Huntington’s disease, and three of my grandchildren have it. It seems I haven’t had time to grieve over the loss of one family member before it’s time to grieve over the next.”
With good reason, HD has been described as “a living nightmare,” not only for the sufferer but also for those who must take care of him.* Just what is HD? How can those who have it—and their caregivers—be helped?
Named after Dr. George Huntington, who in 1872 first described the symptoms, Huntington’s disease is marked by subtle changes in personality and behavior that become more pronounced as the disease advances. These range from mood swings and irritability to depression and violent tantrums. Sufferers may also experience involuntary bodily twitches and unsteadiness of the hands and feet. Coordination skills wane, and the sufferer becomes increasingly clumsy. Speech becomes slurred. Swallowing is difficult, and powers of memory and concentration fade. Learning, organizing, and problem solving—once routine functions—are now burdensome, if not impossible.*
HD symptoms persist and intensify for the rest of the sufferer’s life.* Inevitably, he will have to quit his job and will no longer be able to care for himself. Often this is a tremendous blow to the person with HD. “I used to build houses,” says a sufferer named Bill. “Now I don’t do anything. I feel very frustrated.”
Yes, it can be devastating for a person with HD to see his physical and mental powers steadily decline. It is also heartbreaking for a loved one to watch as a sufferer succumbs to this dreadful disease. What, then, can be done to support the person who has HD?
Support for the Sufferer
While there is no cure for HD, adequate medical care has helped many to cope with their symptoms. “This doesn’t affect the long-term degenerative nature of the disease,” says Dr. Kathleen Shannon, “but it vastly improves the quality of life for the patients.”
For example, some with HD have benefited from medications that control spasmodic movements and reduce depression. The assistance of a dietitian may also be helpful. Why? Because weight loss is often a problem for HD sufferers, and they usually require a high-calorie diet to maintain their body weight.
With a little ingenuity, some families have been able to help the sufferer adapt to new limitations. For example, Monica states: “As my father’s speech worsened, we looked for ways to figure out what he was asking us for.” Monica and her family made a concise loose-leaf notebook made up of cardboard pages, each of which contained a single word or picture. “We included my father in this project,” says Monica. “He helped pick the pictures and the words.” With this new tool, Monica’s father could communicate by pointing out what he could not form the words to say.
Even when the sufferer is confined to his home or to a care facility, contact with family and friends is important. “It may be difficult to visit those in the later stages of HD,” Janice acknowledges, “but my children greatly appreciated it when friends would stop by to encourage them.” Sadly, at times this aspect of support is neglected. “Sometimes we feel isolated,” says Beatrice, whose husband has HD. “If friends would just stop by to say hello to my husband, it would mean so much to him!”
All told, what do those with HD need most? “Understanding,” says Bobby, a sufferer who is one of Jehovah’s Witnesses. “The Christian brothers and sisters in the congregation realize that it may take an extra minute or two for me to gather my thoughts to comment at a meeting,” he adds. “They also do not take it personally if I become frustrated or agitated, since it is merely a symptom of the disease.”
Providing Support for Caregivers
Of course, caregivers need support too, for they face many anxious moments. “You constantly worry about the sufferer’s safety,” says Janice. “As his condition worsens, you feel helpless.”
Clearly, caregivers need encouragement. Beatrice explains one way this can be offered. “I can’t leave my husband alone,” she says, “and every now and then when I’m invited to a gathering, I have to say, ‘Thanks for asking, but I can’t come.’ How nice it would be if a friend would say, ‘Maybe my teenage son or my husband could stay with your husband for a while.’!” Surely, caregivers appreciate such empathetic consideration!—1 Peter 3:8.
As HD reaches its later stages, the caregiver may need to make what is perhaps the most heartrending decision of all. “Having to say, ‘I can’t take care of you anymore’ is extremely difficult,” says Janice.
The decision to move a sufferer into a care facility is one that a Christian would want to weigh carefully and prayerfully. The Bible commands Christians to ‘provide for those who are their own,’ and this includes providing for one’s ailing parents or children. (1 Timothy 5:8) Never should one abdicate this Scriptural responsibility simply for the sake of convenience. On the other hand, there may be factors—including concern for the sufferer’s safety—that make professional care the most loving and practical course. This is a personal family decision and should be respected by others.—Romans 14:4.
A Sure Hope
The Bible is especially comforting for those who battle HD and other incurable illnesses. The Scriptures give a guaranteed hope of a righteous new world in which “no resident will say: ‘I am sick.’” In addition, the Bible foretells that “the lame one will climb up just as a stag does, and the tongue of the speechless one will cry out in gladness.”—Isaiah 33:24; 35:6.
Bobby, quoted earlier, is comforted by this hope. “This is the cure I seek,” he says. “It’s the kind of future that will make all of this seem like a part of the distant past.”
HD affects women as well as men. For the sake of simplicity, however, we will refer to the sufferer as a male.
The symptoms of HD and the speed at which they progress can vary greatly from one person to the next. Hence, the symptoms described here are presented merely as an overview and are not intended to serve as detailed criteria for making a diagnosis.
The life expectancy of a person with HD is about 15 to 20 years after symptoms begin, though some live considerably longer. In many cases death is the result of pneumonia, since the sufferer cannot cough well enough to clear the chest of infections.
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Inheriting HD—A Genetic Coin Toss
Each child who has a parent with HD has a 50-percent chance of inheriting the disease. Why?
You have 23 pairs of chromosomes packed into every cell of your body. One member of each pair came from your father; the other came from your mother. Suppose, then, that your father has HD. Since he will pass on just one of his two chromosomes and since only one of the two is damaged, the odds that you will inherit HD amount to a genetic coin toss.
Since the symptoms of HD usually do not become manifest until one is between 30 and 50 years old, sometimes the HD sufferer already has children by the time he himself is diagnosed with the disease.
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To Tell or Not to Tell
When a diagnosis of HD is made, how much should the patient be told? Some family members fear that the ailing one will not be able to cope with the knowledge that he has an incurable, degenerative disease. It is unwise, however, simply to assume that he would not want to be informed. “Our own fears and anguish may make us overprotective,” cautions one booklet about HD, adding: “[The sufferer may] feel a deep sense of relief that there is at last an explanation for all that is going wrong.” In addition, since the disease is hereditary, it is essential that those who have HD know the risk of passing on the disease to any children they may have in the future.
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Janice, who lost four children to Huntington’s disease