The Nerve Center

On Saturday, April 21, I spent the day at the Huntington's Disease Society of America’s 10th Annual State Convention. Jean Morack, ACSW, MSW, MS, social worker for the Wisconsin chapter planned and facilitated the event. Jean also facilitates a monthly Huntington's disease support group at Froedtert & The Medical College of Wisconsin. Attendance at 148 participants was the best ever. This was my third year. I always go with a feeling of apprehension and always leave with a feeling of awe. Apprehension because it’s just a lousy disease and I don’t like to think about it. Awe because the people — the families I meet — who have to think about it, worry about it turning up in their children, and live with it 24/7 are such strong, loving, joy-filled people.

Carmen Leal was one of the keynote speakers. Carmen cared for her husband who had Huntington’s for 12 years. She often broke out in song throughout her presentation. And she was funny in that way that only someone who has suffered can be. It was so real. She was "disrespectful" of physicians who had misdiagnosed her husband and had closed their minds to the intense caregiving realities that she faced every day. She was glib about the kinds of down-and-dirty caregiving tasks that involved bowel and bladder and feeding issues. She was respectful of her husband and saw his humanity and love when he could barely form words any longer. The audience loved her.

Huntington’s disease (HD) is an incurable neurodegenerative disorder inherited in an autosomal dominant fashion (each child of someone with HD has a 50 percent chance of carrying the gene regardless of  gender). It is characterized by progressive movement disorders, psychiatric manifestations, behavioral abnormalities and cognitive impairment. Symptom onset is usually between 33 years and 44 years; subtle cognitive and motor changes may precede diagnosis by many years. There are no proven therapies that slow the progression of HD.

Betty had come to the Neurosciences Center at Froedtert & The Medical College about five years ago. Even without gene testing, it was quite apparent to the movement disorders neurologists here at Froedtert & The Medical College that she had Huntington’s. Gene testing confirmed it. More people with HD are seen in the Neurosciences Center here than anywhere else in the state. After coming to Froedtert, Betty did better for a few years. Dr. Brad Hiner developed a strong bond with her and encouraged her to add calories in some creative ways and take a medication to help with her behavior issues. She went from 80 pounds to 120. She went through physical therapy and improved her balance. These years have been reasonably happy ones for Betty and her daughter and grandchild. But now, predictably, she is deteriorating. During lunch at the conference, Betty felt calm and I was calm and patient with her; so she talked to me and we teased each other and laughed. She has a great laugh. She told me her story:

Betty was adopted. She never knew her birth parents. Despite the fact that her symptoms were typical Huntington’s she was always just characterized as “eccentric.” She can be argumentative and has writhing movements. She has been detained by police more than once because of what appeared to be drunken behavior. She was not diagnosed until after her daughter had a child. Now, of course the daughter is “at risk.” If she tests “gene positive,” the daughter’s child will be at risk. Betty will probably not be with us at next year’s convention. She’s not eating much, she has swallowing difficulties, and she’s using a wheelchair. If she is still alive, she will need long term care.

HD often begins during a time when family life is most complex and therefore most disruptive to the family structure (e.g., child-rearing, career development). Children can be particularly affected: Distress is aggravated by concerns about their own genetic susceptibility, and as many as 40 percent of children of HD patients describe HD as splitting their family apart. Careful assessments of familial coping and psychosocial needs are an integral part of ongoing care for the HD patient. Melinda Kavanaugh, MSW, LCSW, is a Madison social worker who is doing a dissertation study on the experiences and needs of children or teens who are helping a parent with Huntington’s disease. Melinda was one of the facilitators of the youth gathering sessions at the convention. These kids need to know they are not alone.

Debbie’s father left the family when she was just a toddler. Her mother found him “difficult and different.” When Debbie and her sister were in their late teens, a man knocked on their back door. He appeared “spastic.” He said, “I’m your dad and I thought you should know that I have Huntington’s disease.” Both Debbie and her sister tested “gene positive.” They aren’t sure if they are symptomatic or not but they are very alert to that possibility. Debbie’s sister’s daughter is also gene positive. Debbie’s two daughters have not been tested but the youngest one “is a handful.” Is it because she is scared and mad? Is it because she has Huntington’s? Young-onset Huntington’s manifests very intensely. It has a different course of the disease than adult onset folks. But sometimes, a child or adolescent believes they have it, and it almost becomes their identity. That’s one reason that people cannot be tested younger than 18 and should only be tested after they have gone through genetic counseling. The reality is that both young-onset and adult-onset people can have a life — relationships, work, hobbies, interests, joy. Over time it becomes more difficult to hold on to those things. Sometimes the knowledge that they are gene positive puts that life in limbo. I’ve seen young people stop all manner of living and simply think about, write about, talk about Huntington’s. It’s understandable but very destructive.

Common Symptoms and Supportive Care

Patients are best served by an interdisciplinary team familiar with treating patients with HD, like the one at Froedtert & The Medical College of Wisconsin. First-line strategies are non-pharmacologic and include gait/balance training, speech therapy, and orthotics and leg weights to assist with upright posture.

Pharmacologic therapy can treat the following:

• Chorea (involuntary, writhing-like movement) is the most frequently targeted symptom for pharmacologic therapy.
• Depression is a significant psychiatric problem and rates of suicide are higher in HD patients than the general population.
• Agitation is also common, and a small number of patients develop psychosis and emotional lability (including episodes of extreme anger).
• Manifestations of anxiety including those related to eating.

Establishing strict daily and hourly routines can help lessen anxiety, short-term memory deficits, intrusive thoughts, and fear of abandonment. Gradual loss of memory and executive function are common. Consequently, increasing impairments in initiating movements and conversation occur. Yes/no questions may be preferable over open-ended questions when cognitive impairments become severe.

Jim is 40. He's divorced. He has a teen-aged son. His dad divorced his mom when Jim was a kid. She was “odd.” Her mother was in a mental institution. Neither was ever gene tested or diagnosed with HD. His mom died of something else. Jim had trouble at work and lost his job. He’s not able to concentrate or focus and is having problems with his speech. He has problems reading and can’t concentrate or comprehend. He can’t remember appointments. He lost almost 50 pounds. He has a “muscle twitch” and often feels like he’s going to fall. Even though Jim lives alone, he has to rely on his dad now to take him to appointments ... and to things like the Huntington’s convention. Jim and his dad are amazingly nice guys. I’m glad they came. I’m glad I came too.