It Takes a Team
words by eve jacobs / photography by andrew hanenberg & john emerson
hile technology drives forward at maximum velocity, there are certain “homegrown” innovations that brilliantly sport the minimization of technology. Such is the case for Huntington’s disease care in New Jersey, where a UMDNJ team composed of faculty and staff from its three medical schools reaches statewide to provide the kind of handholding-medicine that seemed to disappear from our neighborhoods decades ago.
That’s not to say the team spurns sophistication and state-of-the-art approaches. But these are woven into a fabric of family and patient support that bolsters and provides the professional framework for survival after a diagnosis that could easily destroy all sense of life’s goodness and continuity. You might call this team an anachronism — or you might recognize the timeless quality of their “doctoring.”
Huntington’s is a progressive and disabling genetic disease with no cure. It hits all systems — eventually destroying mental, physical and emotional functioning. Inheriting a single gene from one parent is all it takes.
The timing of the disease’s onset, most often in early mid-life, poses serious dilemmas for those who could be stricken. Despite a predictive genetic test arriving with much fanfare in 1993, there are many who reject the test’s value, and still others for whom it creates mental trauma so powerful they cannot even consider it. Huntington’s pursues families through generations, often causing deep emotional rifts between members, but also binding them together in a fashion hard to fathom.
To be tested prior to the onset of symptoms or not to be tested—that is a huge quandary. Many feel it is a lose/lose situation: if you find you are positive but have no symptoms, the merest twitch or a moment of forgetfulness will be fraught with dread. If you choose not to be tested, every out-of-order nerve signal might be the earliest symptom—or not. To choose testing, and find you are negative for the gene, is a wonderful prospect, but it holds no certainties for your siblings—or even a parent. Each child of a parent with Huntington’s has a 50-50 chance of contracting the disease. You may be off the hook, so to speak, but your sisters, brothers, nieces, nephews may—or may not—be.
Add to that the fact that age of onset and seriousness of disease are determined by the number of triplet [CAG] repeats in the mutated gene. So, some with small mutations may have no symptoms until age 60 and older, according to Michael McCormack, PhD, FACMG, director of the team, a medical geneticist and a professor of pathology and psychiatry at UMDNJ’s School of Osteopathic Medicine and Robert Wood Johnson Medical School, who has specialized in Huntington’s disease for 30 plus years. “This is quite complicated,” he states. “You could have a 20-year-old come in, for genetic testing, whose at-risk parent may or may not have Huntington’s and doesn’t want to know the outcome of the test. If the 20-year-old has the mutated gene, then the parent does as well, but the parent may have no symptoms yet and prefers not knowing. And in rare cases, someone can test positive for the disease and never have symptoms until a very advanced age, or just minor ones; and it’s possible for their children to have a far earlier onset and worse disease.”
The question of pre-symptomatic testing can be particularly important for a young person, says McCormack. “A young woman might be trying to decide: ‘Should I spend six or seven years in graduate school?’ or a young man might be grappling with the question: ‘What should I tell my prospective wife?’ These decisions are life-determining. Everything becomes focused on this one gene.”
Christine Hogan, LCSW, who coordinates the team’s activities in Northern and Central New Jersey and makes sure families have the short- and long-term psycho-social services they need, says that she has seen an elderly woman taking care of several affected grown children, and unaffected “children” in their 30s and 40s taking care of a parent and siblings. The disease has many tentacles that can wrap around families, squeezing them to the breaking point.
Counseling is crucial before genetic testing — and after. “Life expectancy is from 15 to 25, maybe 30, years, after diagnosis,” says Hogan. “Most become symptomatic between ages 30 and 50, so there is a lot of life left after the diagnosis. We’ve also had a few young children. One died recently at age 14. We have another young patient — a girl of 11.”
Children have a larger mutation and the disease progresses far more rapidly, explains McCormack. “The earliest known onset of this disease is age 2. Five percent of those with the disease are children and their families try to maintain some aspects of normalcy, keeping them in special education classes as long as possible,” he says. “Unfortunately, many can’t walk and many develop significant seizure disorders.”
In general, symptoms are what bring people in the door of the Huntington’s clinic — often the chorea, or constant muscle motion, which is one of the disease’s hallmarks. Only 5 to 8 percent come in for pre-symptomatic genetic testing, according to McCormack, constituting just 20 or so New Jersey patients each year. He sits with the families before, talking them through their questions, concerns and fears, and after, having the joy, sometimes, of giving a young couple wanting children some much-hoped-for good news, or the opposite, which can feel like cutting off someone’s lifeline to their future, he says.
According to Hogan, loss of executive functioning — the ability to plan, initiate, prioritize, analyze, organize, think flexibly and control emotions and impulses, in other words the qualities expected of an executive — is not uncommon fairly early in the disease’s course. “That means that many patients can’t work and become disabled early,” she says. What that means in practical terms are financial and insurance problems.
“Many of the patients become very impulsive, and some may even become violent,” she continues. “This creates huge problems for the families. Spouses are young and get burned out early.”
Although medications are prescribed that address each individual symptom, the disease process pursues its unremitting course. The team is composed of neurologists, psychiatrists, a neuropsychologist to test for abilities and disabilities, such as the capacity to continue driving a car, a social worker and geneticist — and a steady stream of students and residents who want to learn how to do this. In fact, there are few places to study how to care for such patients — not only medically but with such compassion and concern for the dignity of those affected — over a progressively challenging 20 to 30 years. The clinics’ patients number in the hundreds.
Medications include Tetrabenazine (Xenazine) to reduce the jerky, involuntary movements by increasing the dopamine available in the brain; tranquilizers such as clonazepam (Klonopin); and antipsychotic drugs such as haloperidol and clozapine (Clozaril) that can help control movements, violent outbursts and hallucinations. Various medications, among them fluoxetine (Prozac, Sarafem), sertraline (Zoloft) and nortriptyline (Pamelor), can help with depression. Lithium (Eskalith, Lithobid) is sometimes prescribed to control extreme emotions and mood swings.
The team dedicates one day each month on each UMDNJ campus (north, central and south) to a Huntington’s disease clinic and one day each quarter to consulting in one of the two New Jersey nursing homes — located in Lakewood — where end-stage patients often live out their last three to five years. The team actually holds clinic in the nursing home, where members have developed strong working relationships with those who administer the day-to-day care, ensuring their patients continued first-rate treatment. Hogan also spends many hours doing home visits in order to “assess what’s really going on,” she says, which is often quite different from the details of everyday life provided by patients and their families. “I really like that part of my job.”
The team’s stories bubble up — one more heart-rending and life-changing than the next. McCormack tells of a pregnant woman whose husband was at risk but did not want to be tested. “But the mother can choose to have prenatal testing without the husband’s consent,” he explains. “The result was that the father found out he has the disease because the fetus tested positive. He wanted to have the baby, the mother did not.”
“There’s an interesting woman in her mid-80s,” he continues. “She has the gene but no symptoms. This is highly unusual — she’s one of only 12 such known cases in the world. She has several adult children who have the disease and had a sister who died at a young age of the disease — and they all have the same gene mutation. She lives at home with her husband and visits her kids in the nursing home.”
“Interestingly, she has the same number of CAG repeats as her sister did. Her kids are in their 50s and they’re pretty end-stage. They can’t bathe or feed themselves. Their brain function has eroded over time,” he explains.
In a highly publicized and dramatic case in 2002, a 63-year-old woman killed her two older sons in their early 40s who were suffering from late stage Huntington’s. (Her youngest son had early stage Huntington’s.) Her husband had died of the disease in 1995, after 20 years of steady decline, which left him unable to think, move or talk. She took care of him until his death, and then just kept on going — doing the same for her two sons, then in their mid- and late-30s. Her career as caregiver continued until she could no longer do it. Her defense: Desperation.
“But our focus is life,” Hogan states with conviction. “Even our end-stage patients in the nursing homes still have lives. They are so well taken care of and there is a social atmosphere there.
“Sometimes there’s even romance,” she says with a smile. “You just have to hold on to life as long as you can."