The most famous person to be diagnosed with Huntington’s disease (HD) — and who first helped bring it to public attention — was the legendary folk singer Woody Guthrie. Before succumbing to this neurodegenerative genetic disorder, Guthrie wrote thousands of songs including “This Land Is Your Land.” His music was a major influence on Bob Dylan, who said, “When I first heard him, it was like a million megaton bomb had dropped.” When the 19-year-old Dylan moved to New York in 1961, he made many pilgrimages to visit Guthrie, who was living in a psychiatric hospital in New Jersey. That was the place where people with Huntington’s Chorea, as it was then called, ended their days.
Guthrie suffered many indignities before winding up on “Wardy 40,” as he called it. He first started exhibiting symptoms while still in his 30s. He was misdiagnosed with alcoholism (slurred speech and motor problems) and schizophrenia (mood disorders), and was even picked up as a “vagrant” by New Jersey police. After he was correctly diagnosed, Guthrie had to live among mentally ill patients in a place so frightening for his children that family visits took place outside under “the magicky tree” when weather allowed.
Many aspects of HD care have improved since Guthrie’s death in 1967. Awareness of the disease has increased; in fact, May has been declared Huntington’s Disease Awareness Month. There are more medications and sophisticated therapies to manage symptoms, and there has been vast improvement in the quality of available care. In Rhinebeck, ArchCare at Ferncliff has opened a cutting-edge, 38-bed facility called the Center for Neurodegenerative Care — an extension of ArchCare’s pioneering work with a specialized HD unit in New York City. Part of the Archdiocese of New York’s continuing care program, the Rhinebeck center allows advanced stage HD patients to receive the highly specialized support they need while living closer to their families.
But one thing hasn’t changed. There is still no cure for Huntington’s, and patients need a high level of care to manage the physical, psychological, and social aspects of this dreaded disease.
“HD affects thousands of people every year, and there is nowhere near enough care,” says ArchCare Program Manager Charissa Brown. “Nursing homes turn them away because they require so much care.” To illustrate the seriousness of the shortage: ArchCare’s two facilities together offer 86 beds, making it by far the largest provider in the nation of this complex and highly specialized care.
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Approximately 30,000 people in the U.S. have HD, and another 200,000-plus are at risk for inheriting the disease from a parent. Individuals with HD have an abnormal gene which destroys nerve cells in the brain, undermining every aspect of human behavior — mental, physical, and emotional. If a parent has HD, each of his or her children has a 50 percent chance of inheriting the faulty gene.
Genetic testing is available, but many choose not to get it. Prior to the passage of the Affordable Care Act, they were at risk of losing health coverage due to a pre-existing condition. The Genetic Information Nondiscrimination Act, which took effect in 2009, prohibits health insurers and employers from discriminating against anyone based on genetic information, but does not apply to life, disability, or long-term care insurance; or to employers with fewer than 15 employees.
Symptoms of HD usually appear between the ages of 30-50 and include mood disorders, impaired judgment, involuntary jerking movements (chorea), gait difficulties, and slurred speech; they gradually worsen over a 10- to 25-year period. By the late stages, patients are completely dependent on others for their care. In their weakened condition, they may die from pneumonia, heart failure, or other complications.
In 1968, Woody Guthrie’s widow, Marjorie, founded the organization that is now called the Huntington’s Disease Society of America. Marjorie also persuaded then-President Jimmy Carter to form a presidential commission to study neurological diseases. In 1983, the first marker for the disease was found, and 10 years later the abnormal gene was located on the short arm of chromosome four.
There has also been a great deal of research to find medications to treat Huntington’s disease. Tetrabenazine (Xenazine) was approved by the FDA in 2008 to suppress the involuntary movements known as chorea. It can have serious side effects such as depression and other psychiatric conditions. A similar drug called SD-809ER (Austedo) currently is in the late stages of clinical development. The hope is that it will be effective at lower doses and have fewer side effects.
Although not yet approved by the FDA, a number of promising drugs are aiming to slow the progression of the disease. Cysteamine increases the secretion of brain-derived neurotrophic factor (BDNF), which could help nervous system cells to regenerate. PBT2 is designed to interrupt interactions in the brain between an HD-causing protein and copper, which speeds deterioration of brain cells. By restoring the neuronal circuitry in the basal ganglia, PDE10A Inhibitor may have a therapeutic benefit that positively affects both motor and cognitive problems.
For now, however, medications merely suppress symptoms. Speech, physical, occupational, and psychotherapy can all improve the quality of life and make it possible for sufferers to remain in their homes longer. Treatment at ArchCare at Ferncliff, therefore, is about managing the illness. Individual plans are created by a team, which includes neurologist Dr. Gerald Kufner; the goal is to “recognize and respect the person who existed prior to the onset of HD,” says Kufner, “and help them express themselves and socialize to their maximum ability.”
Charissa Brown is doing outreach to ensure people with HD and their families know about the center. “Huntington’s requires a lot of long-term planning,” says Brown. “Families don’t know how to get long-term care insurance, and I can help them.”
Currently, the facility is undergoing a $5 million makeover to create a more home-like atmosphere. The spacious central lounge has a cozy fireplace and comfy furniture, and is outfitted with special flooring that looks like wood but is cushioned to break falls. There’s a specialized physical therapy gym for residents, additional activity spaces, and rooms for family meetings and consultations. “We work with staff who want to work with Huntington’s,” says Brown. “We want the most compassionate care on that unit.”
Families dealing with HD still struggle to find appropriate and affordable support and care, but in the Valley at least the struggle has gotten a little easier.
