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Living with Huntington's Disease
by Lorra Tamplia
One of the reasons I was attracted to my husband Dave was because of his gentle, loving personality. He never raised his voice and seemed to have an infinite amount of patience. With the onset of Huntington’s Disease, he seemed to change overnight.
Once, Dave left the room where he was watching television. My younger son, then 12 years old, not knowing Dave had been sitting in a specific chair, sat down to watch the program. Out of nowhere, Dave flew at my son, cursing at him for being in the chair. Dave picked him up, threw him against the wall, and began beating him with his cane. When I tried to intervene, he turned on me with increased fervor until, finally, he stopped, walked outside into the rain and stood on the street crying.
This excerpt is from Faces of Huntington’s (Essence Publishing, 1998), a powerful book by Carmen Leal-Pock, about first-hand experiences with Huntington’s disease (HD).
The progression phase of this destructive illness, formerly known as Huntington’s chorea, lasts anywhere from five to 25 years—all downhill: no effective treatments, therapies or drugs exist, even though people with HD are often given antipsychotic drugs to subdue rages, paranoia and obsessive compulsive tendencies, and antidepressants for severe depression.
Onset usually occurs in the late 30s to late 40s, though 10 percent of patients are under age 22 (including as young as 2), and a number of victims are over 55. Offspring of anybody with HD run a 50 percent chance of inheriting this disorder, which involves three DNA nucleotides: cytosine, adenosine and guanosine (CAG).
The normal CAG sequence repeats only 12 or 14 times. In HD, the CAG-repeat range is 38-125. This abnormality was linked to HD in 1993.
Having a biological parent with HD is almost always the only way to get this disease. The exception is when the biological parent of an afflicted person has a CAG-repeat sequence range greater than normal, but not within the HD range. Case studies have shown that this type of inheritance involves less than 1 percent of cases. There have been no studies involving non HD-range CAG sequences repeating a little bit more with each generation (which, theoretically, would eventually result in a generation with HD).
Sometimes, people with the genetic marker die from unrelated illnesses or accidents before the symptoms appear; so when their offspring develop symptoms, it seems as though the disease surfaced from nowhere.
The HD CAG sequence is verified by a genetic test, available to at-risk individuals once they turn 18. "Many people do not test, but are diagnosed through symptoms and an elimination of other diseases," says Leal-Pock. About 40,000 Americans have HD, and an additional 125,000 are currently at risk.
People who never even heard of HD have suddenly found themselves hurled face-first into its death grip. Your spouse may carry the gene, and you may not even know it because his or her parent (who had the gene) died from an unrelated condition before the symptoms arose.
And anyone further down the ancestral line showing symptoms may have been misdiagnosed with dementia.
You may currently feel very disconnected from HD, as Leal-Pock once had. Little had she known that the charming and intelligent man she eventually married was predestined to deteriorate both physically and mentally.
HD affects all nationalities and socioeconomic classes. Your adopted child may one day develop HD. Adoptive parents have experienced this tragedy. Sometimes, when children begin showing signs of HD, they are frequently misdiagnosed as being unruly and troubled; or as having schizophrenia, attention deficit hyperactivity disorder, learning disabilities or Tourette’s syndrome.
HD greedily pilfers the brain out of its reasoning and emotional-control centers. But HD also causes rapid, shaking, jerky and rocking movements that may seem deliberate, but are involuntary. These movements can persist all day long, exhausting the patient.
Other associated maladies include difficulty swallowing (some patients wither away to dangerously low weights because they can’t swallow food, necessitating feeding tubes); seizures; slurred speech that degenerates to muteness; suicide (among terminal illnesses in which victims kill themselves, HD ranks second); extreme difficulty ambulating (some patients continuously fall or stumble into furnishings); and in later stages, complete loss of motor control.
People with HD often appear drunk, due to the staggering and stumbling, unclear speech and glazed eyes.
This bizarre array of symptoms results when the brain’s neurons—which transmit electrical impulses that generate thoughts, reasoning, muscle control and speech—degenerate and die. The degeneration primarily occurs in the basal ganglia, a major regulation center for motor control.
"The enlarged CAG repeat in the HD gene causes the protein made by this gene to be abnormal," says Henry Paulson, M.D., Ph.D., Assistant Professor of Neurology at the University of Iowa College of Medicine, and a member of the steering committee for the Huntington’s Disease Society of America’s Coalition for the Cure.
"This protein, known as huntingtin, has an enlarged run of the amino acid glutamine, one of the building blocks of proteins. This enlarged poly-glutamine stretch causes the protein to take on an inappropriate shape, and form clumps of aggregated protein inside brain cells. exactly how it (huntingtin) causes neurons to become sick and eventually die is still not certain."
Typically, symptoms first appear as anxiety, quick-temperedness, reduced organizational skills and mismanagement of the household. These shortcomings are often attributed to stress.
Early on, subtle deterioration in motor coordination may also be present, often being blamed on excess weight, aging, taking up a new sport, soreness from exercise, or stress.
In fact, most adults with HD are misdiagnosed for as long as five to 10 years before a doctor finally considers HD. Usually, misdiagnoses include stress, depression, substance abuse, Tourette’s, restless leg syndrome, alcoholism, multiple sclerosis and Alzheimer’s.
Unlike Alzheimer’s patients, HD patients usually retain recognition of family members. And, HD usually strikes people when they are enjoying the busiest primes of their lives: while raising young children or adolescents; even while planning to start a family.
Many diseases have a genetic influence, such as some types of breast cancer. Women who test positive for the breast cancer gene, BRCA, are told they have an "increased risk" of one day getting the illness. With the HD gene, the issue isn’t risk; it’s WHEN.
At first, it may be a mere stumble down a curb, or difficulty organizing a schedule. Such happens to most people. But with HD, the frequency and severity increases, until symptoms can no longer be ignored and passed off as stress-related. Every day, nonsymptomatic people who have the HD gene must wonder if their lapse in memory that morning is the first sign, or if their loss of temper at their spouse that evening signals the beginning of the end.
Deborah Baker, 46, of Albany, WI, had no idea she had HD until her father, who had chronic alcoholism (which can easily mask HD symptoms), was diagnosed after a back injury. Of course, one of his parents had HD: Baker’s grandmother, who had been labeled as "unstable."
Regarding the three years prior to her father’s back injury, Baker says, "I had trouble concentrating, sequencing tasks. I could be driving a route I should have been able to drive in my sleep, and suddenly discover I had no idea where I was. I would be talking with a friend and completely lose my train of thought or be unable to grasp my next word or form it in my mouth."
Baker adds, "All my life I’ve taken great pride in my ability to complete many things at once. I would fly about the kitchen doing seven things at once. Now, I often find myself standing in the middle of the kitchen forgetting what I was doing."
Baker and her husband have not hidden this "curse" from their kids, ages 21, 9 and 7. "Our children know I will eventually be very ill, and it has become a fact, not a fear. They know they have a 50/50 chance of having the gene."
She has taught her kids that HD carries no shame. "We wear tee-shirts bringing attention to HD, we buy our Christmas cards from the Huntington’s Disease Society of America."
Baker’s children are home-schooled and active in sports. "We live simply with gardens and pets, and God, family and friends to lean on when the road bends again."
Louise "Lou" Wilkinson of Calgary, Alberta, Canada, grew up without any knowledge of HD. What she did know was that her family blamed heavy drinking on the strange behavior of her paternal grandfather and paternal uncle.
Her father’s drinking problems could have easily masked HD symptoms, and he had passed away at age 54.
Eventually, Wilkinson’s uncle was diagnosed with HD. "I was very worried because I had spent the two years before this showing symptoms which I brushed off as normal depression." The symptoms heightened.
If not on antidepressants, Lou is prone to turbulent mood swings. "It’s called a rage attack. They come out of nowhere. Anything would annoy me. I would scream at the kids; sometimes I gave them a spanking using a wooden spoon, though not often. Mostly I just yelled at them and scared them to death. I was awfully unpredictable. I would yell at my husband and say awful things. The rages usually went away after 10 minutes."
Wilkinson, 49, no longer teaches junior high. She gets easily confused during conversation, and gets lost in stores. "I quite often bounce off the walls as I’m walking—it reminds me of the times us kids laughed at our grandfather."
She volunteers for HD causes. "I surround myself with positive people. I imagine a white cloud surrounds me and no negative energy can get through."
When a person has the HD genetic sequence, the disease will eventually rule, no matter how much that individual uses his or her intellect, no matter how intensely that person engages in creative problem solving and imagination. HD doesn’t care how important a person is to the community. It invades ruthlessly and wins every time.
Ardie Newbold, 53, of Frederick, Md., was forced to yield to HD, despite valiantly fighting it while teaching gifted children for five years at North Frederick Elementary School. In her mid forties, she began experiencing odd symptoms. "My mother suffered from migraine headaches, diabetes and eventually had a stroke," she says. "Many of the symptoms of HD were disguised." She died at 72; having never been diagnosed with HD. Newbold was diagnosed at 52.
Before HD’s onset, Newbold had been a physical education and art teacher in public schools, and at the Maryland School for the Deaf. When her three daughters (ages 20, 22 and 24) were grade-school age, she was a full-time mother and home-schooled them for several years.
The change was gradual. At first, remembering students’ names became increasingly difficult. Newbold would forget to show up for school-related programs. Preparing lessons and reading to the class became too much to handle. She had to permanently retire.
Newbold is looking forward to her youngest daughter’s wedding, and says, "I have found I still have valuable skills I can use to help others in my same circumstances. I am willing to meet with community organizations, classroom groups, science classes and health professionals to raise awareness and understanding of this degenerative brain disease."
She worries about her husband. "I know he will be tied down caring for me later. I hope when the time comes for me to go, he will marry again and still have someone with which to share his life."
Newbold is unable to recall names, dates and schedules. "I write notes to remember what I need to do, then forget where I put the list. I have notepads everywhere! I find myself going from one room to another, and can’t remember what I went in there to get."
Reading comprehension is impaired. It’s easy to forget something’s cooking on the stove. "I need to concentrate on one thing at a time without distractions." Newbold struggles to remember number sequences, making it "difficult to use the phone or write out addresses without mistakes." In conversation, she may unknowingly jump from one topic to the next in mid-sentence. "Associative discourse and nonlinear conversations are now my forte. It is extremely difficult for those who like concise one-word answers."
Antidepressants ease irritability and anxiety. Along with the cognitive deficits are physical problems, including muscle spasms in her neck, shoulder and throat, and balance problems.
"I sometimes think of the grandchildren I may or may not be able to enjoy because of this disease," says Newbold, a patient at Johns Hopkins Huntington’s Disease Research Center in Baltimore. "I prefer to ignore the problems and concentrate on living one day at a time. It feels safer."
In high school, 29-year-old Ken was an accomplished football and baseball player, and student, who went on to spend four years in the U.S. Army. He is now in diapers and hardly speaks. HD symptoms started at 20.
He is one of Shirley Procell’s four adult sons. Another son, 37-year-old Gary, is the father of three teenagers. He used to be an air conditioner mechanic. He now uses a walker, has short-term memory impairment, and like Ken, has difficulty swallowing.
"Every day I thank God for letting me still care for them," says Procell, who works full- time for an Internet provider in Bossier, La. Ken and Gary reside in a nearby mobile home, cared for by a family friend, while Shirley and her husband (not Ken and Gary’s biological father, whom they inherited HD from) are at work.
"Our focus is them," Procell says of her sons, who enjoy rides in her van and a homemade wagon, cookouts, movies, music, their dogs and large jigsaw puzzles.
"We deal with it for as long as we can, for I brought them both into this world, and they are the loves of my life. We have learned patience, love and sharing from this disease, as well as the horrors associated with it."
Recently, Harvard researchers were able to slow the onset of HD in mice (that were genetically engineered to carry the HD gene) by breeding a mutant protein into them; this mutant protein blocked the action of proteins called "caspases." Caspases contribute to the mutation of the huntingtin protein, and have been implicated in the production of the runaway CAG sequence.
Human trials are currently underway, using several agents (such as remacemide, a drug, and co-enzyme Q10, a dietary supplement) that may play a role in counteracting HD symptoms.
Another agent of interest is creatine, the strength booster used by many athletes. Creatine may have the potential to reduce some of HD’s cognitive and motor impairments. "Our findings are quite encouraging," says Gary L. Dunbar, Ph.D., Director of the Brain Research Laboratory at Central Michigan University, and who has headed a number of HD research projects. "We found that creatine significantly reduced both the motor and learning deficits in 3NP-treated rats (3NP mimics HD)."
Dr. Dunbar is optimistic. "It seems that every day, we learn something new about HD, and this provides new ideas as to how we may effectively treat it."
Additional areas of study that offer hope include new developments in genetics, transplantation of neuronal tissue, reducing the amount of the huntingtin protein and keeping it from acquiring its abnormal shape, and blocking the brain cell death that results from HD.
A cure may not be around the corner, but Dr. Paulson says, "The future looks very bright."