For a decade, Eva Boren watched her body moving and jerking and falling, and increasingly out of her control. She was in her early 30s. She’d seen her father succumb to the involuntary dance-like movements of Huntington’s disease. It wasn’t just the body akimbo, but wild changes in mood, behavior and thinking. He was 56 when he died. He had unwittingly passed the disease gene on to Eva, and now his daughter’s daughter — the same age as her mother when she was found to have Huntington’s — is facing the first symptoms of the same disease.
Jennifer Clawson — a wife and mother of three young children — says she hopes for the strength that her mother, who died at 43, showed in dealing with this devastating brain illness. “Mom was really a great example for me. She always tried to be positive, even when it sucks. She was open and honest.”
This is a story of sadness and strength, of generations of families in Idaho and beyond who have carved out lives in and around this disease. It is the story of a field in medicine trying desperately to understand the genetics of Huntington’s disease and develop treatments. It is the story of genetic counselors who have taken on the challenge of delivering information that by its very genetic nature is bound to change lives forever. It is a story of surprise as well. Some families are just finding out that the Huntington’s gene has been part of their family legacy and have joined the modern-day fight to understand the disease and stop its spread.
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Three years ago, with neither an unwanted twitch nor a jerk, Clawson decided to get a blood test that would reveal whether she carried the gene. She, and everyone with a parent with HD, has a 50 percent chance of inheriting the disease gene. If a person has the mutated gene, he or she will get the disease. It’s just a matter of when.
The test was positive.
A year later, her Boise neurologist, Dr. Lauren Seeberger examined the young mother and gently delivered the next devastating news: Clawson was already showing signs of the disease. She has the crystal ball. She knows what’s going to happen.
Seeberger, one of the only movement disorders specialists in Idaho, has since moved her practice to Colorado. Her Idaho patients have been scrambling to find other neurologists to manage their care.
Dr. Jackie Whitesell now watches over Clawson, who is not taking any treatments yet and is hoping that the half-dozen experimental drugs now in varying stages of testing will result in a treatment that will stall or slow her disease. She keeps herself strong through a healthy diet and rigorous exercise. She’s also enrolled in a national multicenter observational study of Huntington’s that should lead to new ideas about protective factors that can push back the disease’s course.
The HD gene was first cloned and the mutation identified in 1993. The gene on chromosome 4 encodes a protein called huntingtin. Its normal function in the brain is still not known. Huntington’s disease is the most common of the so-called trinucleotide repeat disorders. The abnormal Huntington’s gene contains an expanded and unstable DNA segment. Up to 35 repeats of the CAG sequence is normal, and more than 40 results in the disorder. There is a gray area between 36 and 39, with some, but not all, people developing the disease. This expansion causes the body to produce longer than normal huntingtin protein. The longer protein seems to interfere with and destroy a specific group of brain cells in the striatum that regulate movement, thought and behavior. The psychiatric symptoms in HD are as vexing and disabling as the uncontrollable dance-like movements.
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Sarah Weber, of Boise, and her extended family are rather new to Huntington’s disease. She spent the first 30 years of her life without even knowing anything about the disease. Ten years ago, her uncle, Steve Cornell, began having uncontrollable abnormal movements, and his California doctors diagnosed Huntington’s.
With the identification of the gene, her uncle and his five siblings — including Weber’s mother — began thinking about their parents and grandparents. Their father died at 84 and lived for decades in a nursing home with a slew of psychiatric problems. As the disease progressed, so did his temper, and more than once his wife had to call the police to handle the situation.
There was also another telltale sign that he had the disease: Around the time his personality changed, he began clicking his tongue. It was loud and happened on its own accord. His mother, as it turned out, had also exhibited psychiatric symptoms and ended up locked away at the end of her life. The family lore was that she was a bit crazy.
In the last decade, all but one of Cornell’s sisters have been tested for the disease gene. Weber’s mother tested positive, as did two of her sisters. Another sister was negative and another sister chose not to be tested. The next generation of at-risk relatives — Weber and her brother and their 15 cousins — also began thinking about predictive testing. Eleven of them have chosen to have a blood test. Six, including Weber and her brother, have not.
Weber’s mother began showing recognizable signs of the disease in 2008, although psychiatric symptoms could have begun much earlier. Her sisters have also developed symptoms. So has her cousin Shay, her uncle’s daughter.
Since the Huntington’s gene was discovered in 1993, investigators worldwide have focused on unraveling the mechanisms that lead to the devastating and fatal condition. Roughly 30,000 Americans have Huntington’s, and 150,000 more people carry the disease gene but have yet to become sick.
Weber and most of her extended family have committed to helping scientists understand the disease’s progression. Every August, she and her mother, aunts and several cousins travel to the University of California in San Diego for a lengthy assessment. The study is designed to follow the spread of the disease and how the symptoms change over time in people with HD and in those who are at risk. The international team is hoping to enroll 20,000 people.
“Huntington’s has become a big part of my life,” said Weber. Her decision not to be tested is simple: “Once you know there is no going back. I am OK with not knowing.” She is involved with the southern Idaho affiliate of the Huntington’s Disease Society of America (HDSA) and in 2014 volunteered as the Idaho Research Champion. She keeps track of the latest research developments and reports back to the HD community in southern Idaho.
“I don’t look at HD in my family as an unfair thing. I think of it as math gone wrong. It is unfortunate that it happened to my family. But it is something we must face and help others figure out how to deal with it.
“Embracing the HD community and taking control of HD has made it less scary than it used to be,” she added.
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Anne Spencer arrived in Boise in 1994, three years after completing a graduate degree in genetic counseling. Her husband was recruited by The College of Idaho, and this newly minted counselor found herself a job in the maternal-fetal medicine department at St. Luke’s Medical Center. Genetic research was exploding, and Spencer, like all genetic counselors in the country, stayed up on any new developments. The identification of the gene for Huntington’s was one of the most exciting discoveries of 1993.
“I realized that there were people who might want genetic testing,” she said. Pre-symptomatic testing was a new concept in the early 1990s. Why would people with a family history of a devastating and ultimately fatal disease want to know whether they carried the disease gene if there were no treatments available? This was an ethical question — it wasn’t entirely clear what people would do with such information — and the debate continues to this day.
For years, families in Idaho would have to travel seven hours to Utah or Oregon to find a center to test them. In the mid-90s, she approached her bosses with the idea to offer testing and they agreed. She had about six people a year show up for blood testing and it was her job to make sure they understood the pros and cons of testing and that they had the mental fortitude to deal with a positive result. The majority of them did not go through with the testing.
In 2004, she created the first Huntington’s support group in Idaho. A dozen people showed up for the first monthly meeting that September, and an equal number of people continue to show up today. She has 30 families who joined the support group mailing list. She also chairs the HDSA Southern Idaho chapter. There is also a part-time social worker available to help people access services.
Jennifer Clawson is ready to face the future she knows all too well. She heads to the University of Utah every year to participate in the international Enroll-HD study. She is also on the board of the HDSA Southern Idaho chapter and is co-director of the annual walk for Huntington’s.
“This disease has taught me that I can do hard things and even though this is horrible, I can help people and be an example of how to go through bad things and live well.” She also attends the support group.
Her father, David Boren, lost his wife to Huntington’s and says that he is proud of his daughter. “Jen is open and willing to talk about it. She is cheerful and generous. I have a lot of sadness but also a lot of pride in how she faces Huntington’s disease. Everyone has struggles, and she is an example of grace and courage in the face of very difficult challenges.”
For more information on Huntington’s disease: www.hdsa.org.