A veteran neurologist’s book offers tools for navigating the ‘turbulent world’ of Huntington’s disease

 

In the fight against any disease, affected individuals and health professionals can arm themselves with an invaluable tool: detailed, cutting-edge knowledge about a condition’s medical and social impact.

 

For the Huntington’s disease community and related disorders, Thomas Bird, M.D., has made a key contribution with his book Can You Help Me? Inside the Turbulent World of Huntington Disease, published last year (Oxford University Press).

 

A retired neurologist who has observed more than 1,000 individuals with HD, Dr. Bird has produced one of the most important – and most accessible – introductions to this devastating disorder. Can You Help Me? will remain relevant for years.

 

Dr. Bird is an Emeritus Professor of Neurology and Medical Genetics at the University of Washington in Seattle, WA. His career spanned more than 40 years, including pioneering work in the field of clinical neurogenetics (diagnosing and evaluating hereditary nervous system disorders). His patients included sufferers of Alzheimer’s disease (AD), Parkinson’s disease (PD), and other severe, chronic brain conditions.

 

“I have been […] constantly amazed, puzzled, distressed and impressed by the trials and tribulations of these families coping with it,” Dr. Bird writes of Huntington’s. (As with some in neighboring Canada and elsewhere, he calls it “Huntington disease.”) “Dealing with HD has been so moving, so unsettling and so challenging for me that I felt compelled to write about it.”

 

“Can you help me?” a desperate HD-affected man wrote Dr. Bird from the state penitentiary in 1980 seeking medical assistance. That question reverberated in Dr. Bird’s encounters with many other HD people and their families and caregivers.

 

With non-technical, limpid prose, Dr. Bird tells the full story of HD’s wide-ranging medical, socioeconomic, and legal implications through a series of poignant vignettes, based on hundreds of HD cases. He changed identifying information to preserve patient privacy, and in some cases created composites of two or three different individuals.

 

Can You Help Me? will ring familiar to veterans of the HD cause, but it also offers new revelations and insights about HD’s impact. Also, it provides an excellent primer for families new to HD.

 

 

Key lessons about bioethical challenges

 

Many of the stories in Can You Help Me? center on the bioethical challenges faced by HD families, such as the complex ramifications of genetic testing.

 

Dr. Bird retells the story of a deeply troubled young man from an HD family killed by the police after a life of drug use and many clashes with the law – anti-social behavior perhaps resulting from the disease. The man’s aunt pleaded with Dr. Bird to have the coroner confirm the man’s HD status, because he had a three-year-old daughter for whom the test result would someday hold great relevance. Divorced, the man had lost contact with the mother.

 

“Needless to say, this was uncharted territory for us,” Dr. Bird writes of his clinical team. “The appropriate legal or ethical aspects of this case were not clear to me, but I called the University Hospital genetics lab and explained the situation.” On Dr. Bird’s orders, the lab performed the test.

 

The test demonstrated that the man indeed did have HD – “another burden” for the extended family, as Dr. Bird writes.

 

“To this day, I do not know if we followed the correct strategy in trying to help this family,” he concludes. It seemed like “quick thinking” to ask the coroner to save a sample of the dead man’s blood for HD testing, he observes. But many questions remained, including when and how to tell the girl of her at-risk status, he adds.

 

Dr. Bird believed that he might encounter the family again, when the little girl had grown up.

 

Dr. Thomas Bird (book jacket photo by Chang En Yu)

 

No ‘typical’ patient

 

In an appendix, Dr. Bird provides an overview of the genetics of HD and the genetic testing process. In general, as I noted in a previous article, Dr. Bird’s book has helped move the HD field from a traditional, more limited kind of genetic counseling to broader “genetic education.”

 

Can You Help Me? reflects on many other key issues for the HD community.

 

He offers valuable insight into the challenges faced by health professionals working with HD patients, as exemplified in the story of a patient clinic who shot himself. “Could we have done more?” Dr. Bird asks. “These situations are heavy burdens for everyone to bear.”

 

Dr. Bird’s vignettes underscore another crucial point in line with the latest medical and scientific research into the disease: there is no “typical” HD patient, as symptoms manifest uniquely in each case.

 

Notably, Dr. Bird does not describe HD as being like a combination of other diseases such as AD and PD, a shorthand some in the HD community use. Dr. Bird instead compares HD to these and other conditions, thus adding vital context.

 

Dr. Bird also emphasizes the need to end the false dichotomy between psychiatric “mental” diseases like schizophrenia and “brain” diseases like HD. Both originate in the brain, he points out, and both cause “mental illness.” Psychiatry and neurology should intersect more, he argues.

 

A contribution to the history of HD

 

In researching the book, Dr. Bird did important historical legwork. For instance, he painstakingly tracked down important episodes such as the use of lobotomies as an attempt to treat HD.

 

“It is estimated that 50,000 lobotomies were performed in this country between 1938 and 1955,” Dr. Bird writes. “Since persons with HD were often institutionalized and lobotomies were common, it is likely that many of these operations were performed on patients with HD.”

 

Although the procedures on HD people were “not easy to document,” Dr. Bird finally found evidence by examining medical texts. In all, Dr. Bird estimates that “perhaps more than 100” people with HD had the operation. It is not currently recommended for HD.

 

A ‘Princess in Pink’

 

Although many vignettes are gut-wrenching, Can You Help Me? also highlights the sometimes-brighter side of the HD story, such as individuals with late onset, mild symptoms, and productive lives.

 

That message holds two-fold meaning for me as an asymptomatic 61-year-old HD gene carrier who saw his mother develop the disease in her late 40s and die at 68.

 

First, I remember how fortunate I am to have reached this stage without symptoms.

 

Secondly, as a writer and advocate, it reminds me that, no matter how badly the disease has turned people like my mother into shadows of themselves, we should see them as humans struggling with disabling symptoms.

 

A caring community can seek to alleviate some of that burden.

 

One of my favorite stories from Can You Help Me? spotlights the “Princess in Pink,” Bobbi, a little girl who, although afflicted with juvenile HD, maintained her cheerfulness.

 

Bobbi’s fifth-grade teacher, Miss Perry, “decided to be proactive,” Dr. Bird writes. “She wanted to make Bobbi more comfortable in the classroom and educate her other students about Bobbi’s disease and how to relate to persons with disabilities.”

 

The class created the “Princess Project” to discuss HD and create a booklet ­– with a pink cover and a picture of Bobbi wearing a pink crown – about Bobbi and her condition. The classmates wrote perceptive and compassionate entries and also made drawings of Bobbi.

 

“It was a learning experience for everyone, including the adults,” Dr. Bird recalls.

 

Sadly, by age 15, Bobbi’s conditioned worsened, requiring a feeding tube, a frequent end-of-life measure for HD patients. She died in a hospice setting. Several of her old classmates attended the memorial service, where they fondly remembered Bobbi, Dr. Bird writes.

 

A resounding ‘yes’ in wanting to help

 

Can You Help Me? is one of the best and most important books about HD. It builds on the work of historian Alice Wexler, in particular her book The Woman Who Walked into the Sea, which uncovers many of the prejudices associated with HD (click here to read my review).

 

Dr. Bird has provided us with a deeply rich documentation of life in the HD trenches.

 

The title Can You Help Me? asks a question that I and so many other HD family members have posed when confronted with the frightening prospects of HD. (It also holds great value for people in the AD, PD, and other neurological disease communities.)

 

“Sometimes we can help a great deal, sometimes we can only help a little, and sometimes we just muddle through as best we can, navigating our way between suffering and harm,” Dr. Bird concludes, noting briefly that research towards treatments “heralds better days ahead for the world of HD.”

 

Fortunately, for the HD community, Dr. Bird’s book indicates a resounding “yes” regarding the desire by him and so many other professionals to alleviate the suffering caused by HD.

 

(For an interview of Dr. Bird about the book, click here).

CHDI’s chief scientist: ‘Not a time for the Huntington’s community to rest on its laurels’

Given the unprecedented interest from biopharmaceutical firms and broadening range of approaches to attacking the disease, the need for the Huntington’s disease community to participate in research studies and clinical trials is “exploding,” CHDI’s head scientist said at the organization’s 14th Annual HD Therapeutics Conference yesterday.

“This is not a time to rest on our laurels,” said Robert Pacifici, Ph.D., the chief scientific officer for CHDI Foundation, Inc., the nonprofit virtual biotech dedicated to finding HD treatments. “Trials won’t go forward without people willing to take the risk of taking a drug never taken before.”

Dr. Pacifici’s comments came in an interview with me at the conference venue, the Parker Palm Springs hotel in Palm Springs, CA. The gathering of scientists, pharma executives, and advocates ends today.

Critical new research studies

The conference comes just after news of the start of Roche’s historic Phase 3 gene-silencing clinical trial and other clinical trial programs (click here to read more).

“It’s exciting times,” Dr. Pacifici observed. “Now more than ever we need to make sure that these channels of communication between patients and caregivers and researchers remain open and clear so that everybody knows what’s going on.”

With the advent of more trials, both the pace and number of research projects requiring volunteers is growing rapidly, he explained. One involves a forthcoming brain imaging study (using a PET-ligand).

To help understand the disease and measure the effect of potential drugs in clinical trials, scientists need to find more biomarkers (signals of the disease) in humans. For years, they have collected samples of blood. More recently, they started examining the cerebrospinal fluid and saliva.

Now CHDI wants to collect semen, Dr. Pacifici said. “There are certain things that happen only in those cell types that are going tell us what happens to Huntington’s DNA, and that’s going to be really critical for our efforts as well,” he explained.

CHDI will also establish a “Brains for HD” initiative to request donations of that organ from deceased individuals, Dr. Pacifici added. “Invaluable,” he said of the importance of brains in HD research. “Especially the rare young brain, if somebody happens to pass away from something else, and we can harvest the brain before it experiences the ravages of Huntington’s disease.”

You can watch my interview with Dr. Pacifici in the video below.

Not a time for the Huntington's community to rest on its laurels from Gene Veritas on Vimeo.

‘Huntington’s homework’

Dr. Pacifici outlined the conference’s three major areas of focus.

He described the first as “Huntington’s homework.”

“We might not like it, and it might be tough, and it requires some dedication, but we still have basic research to do to understand the underlying pathophysiology of Huntington’s,” he explained. “There are still some fundamental questions about what’s broken in HD that we need to understand, because until you understand what’s broken, it’s hard to fix it.”

To that end, this year’s conference talks have included topics such as HD’s hampering of the brain’s ability to repair itself and the loss of white matter in presymptomatic gene carriers like me.

Modifier genes: a key discovery

A second area involves the discovery of so-called modifier genes – a major advance only made possible with the participation in the research of 9,000 HD family members.

“We now know there are other genetic factors that influence, for any given CAG [the length of the genetic coding for the huntingtin gene], whether you’ll get the disease sooner or later,” Dr. Pacifici noted. 

People with same gene length can get the disease decades earlier or later, he said. “That’s a really big range, and what we’ve found is that the propensity to get it earlier or later is also heritable.”

The modifier genes affect onset by as much as a dozen years or more, he added.

“Imagine if we could make a drug that did the same thing – or did it even better,” Dr. Pacifici said. CHDI and HD scientists are at work on this task.

‘A wonderful time for HD research’

A third major aspect of the conference concerns “genetically identified targets” that are changed in people because of HD. This type of lab research is still in the early stages, Dr. Pacifici observed. However, these targets might also serve as models for drug design.

Dr. Pacifici noted that in the relatively mature field of “huntingtin lowering” – the approach of the Roche drug and of several other companies present at the conference – something “unthinkable” five years ago has occurred: the possibility of a “small molecule” drug. Such a drug would be taken orally, thus avoiding the spinal taps and other highly invasive procedures currently envisioned for these drugs. 

On February 26, Anuradha Bhattacharyya, Ph.D., of Ireland- and U.S.-based PTC Therapeutics presented a paper on the company’s efforts to develop such a drug.

As a nonprofit, CHDI’s job is to provide all firms access to the necessary biotechnological tools they need and to potential volunteers for studies and trials, Dr. Pacifici said. CHDI has spent hundreds of millions of dollars in the effort to treat HD, including grants to scientists and companies.

He concluded: “It’s a wonderful time to be a researcher in the area of Huntington’s drug discovery and it will soon be an opportune time to engage the broader patient community, because we really need your help.”

(Future articles will discuss other aspects of the meeting. For additional coverage, visit HDBuzz.net.)

Faith in each other: sticking together through the challenges of Huntington's disease

This article is dedicated to my lovely wife Regina and to HD caregivers.

In 2017 my wife Regina and I marked 25 years of marriage with several celebrations, including a May dinner in Rome before meeting Pope Francis at #HDdennomore and then at one of our favorite San Diego restaurants on our anniversary, December 8.

Throughout last year, I relished the many triumphs of our life together: establishing successful careers, building important friendships, and raising our daughter Bianca, who will graduate from high school in June.

I have also reflected on how Regina and I have confronted the ordeals of Huntington’s disease, the debilitating, genetic neurological disorder that took my mother’s life twelve years ago this month. Because I too carry the HD gene, I will inevitably develop symptoms.

Last year, former San Diego Chargers PR director Bill Johnston exemplified the commitment to caregiving when, after 38 years with the team, he skipped its transfer to Los Angeles to keep his wife Ramona in an award-winning HD care facility.

“He didn’t run away from his marriage vows,” HD community member Dave Elliott reacted to the news in a Facebook comment. In HD families, those vows imply a heightened commitment.

Gene Veritas (aka Kenneth P. Serbin) and Regina Serbin at the Vatican Museums, with St. Peter's Basilica in the background, Rome, May 2017 (photo by Bianca Serbin)

Avoiding the HD shipwreck

Regina and I have faced the challenges of HD together.

The day after Christmas 1995, we received the terrible news that my mother had HD, that I had a 50-50 chance of inheriting the genetic defect, and that the children we planned for also faced a risk.

Many relationships shipwreck upon receiving such news (click here to read more).

However, Regina stood firmly by my side. One night, as I lay beside her gripped with fear, she hugged me tightly.

In 1999, Regina sat by my side as a geneticist revealed that I had tested positive for the HD gene.

Seven months later, we shared a tremendous sense of relief with the news that the baby in her womb, our daughter Bianca, had tested negative.

In 2011, Regina sat in the front row as I delivered the keynote address at the “Super Bowl” of HD research, the Sixth Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc.

Each day, Regina lives with the fear that she could lose me to HD. Like my “HD warrior” father, who cared for my mother daily for more than a decade, she faces the prospect of watching (and tending) to my slow deterioration and loss of self.

However, not once has she blinked in her commitment.

With faith in each other, and also in the Creator, we have stared down the lion of HD. Striding side-by-side in annual Team Hope Walks, we yearn for an effective treatment.

A healthy relationship might delay onset

Like any long-term relationship, ours has had its ups and downs. Sometimes our different cultural backgrounds (Regina’s from Brazil) have led to disagreements. Overall, though, we have come to accept and appreciate each other’s foibles.

Ken and Regina in front of the Sugar Loaf Mountain in Rio de Janeiro, 1991 (family photo)

We’ve built a united front in running the household, helping Bianca prepare for college, and strengthening the family finances, preparing for the likelihood of my disability.

Whereas my mother’s HD symptoms started in her late 40s, at 58 I have fortunately avoided HD onset.

Scientists are still seeking to explain the differences in onset in people with identical HD mutations like my mother and me. I’ve strived to lead a healthy life, as I’ve chronicled in this blog.

Though the data from studies is complex, science suggests that healthy relationships can help promote overall health.

I firmly believe that I remain asymptomatic in good part because of Regina’s love and support, and because of our shared mission to build a family and raise a thriving child, soon to turn 18.

Treasuring my family

In our frenetic society, and as my aging seems to make life move faster, it becomes easy to take Regina for granted in our daily routines.

I feel a deep need to stop time and savor every moment with Regina and Bianca.

As I've pondered the deeper meaning of our marital commitment, I've focused on what's essential: treasuring them fully.

The little things that are really big: caregiving in families with Huntington’s disease

The everyday kindness of the back roads more than makes up for the agony of the headlines – Charles Kuralt

As a member of a Huntington’s disease family, I have become deeply familiar with the common yet often unheralded human practice of caregiving.

My “HD warrior” father Paul Serbin cared for my HD-stricken mother Carol for more than a decade.

My mother died ten years ago this week. Her passing sent me into a months-long dual spiral of anxiety and depression: I had inherited the HD gene from her, and seeing her demise provided a portent of my own future (click here to read more).

Because of the inevitability of HD onset, I know that I too will require caregiving.

Furthermore, as a father, I’ve spent the past fifteen years helping my wife Regina raise our daughter Bianca, a special form of caregiving. Bianca tested negative in the womb, thus avoiding the specter of juvenile Huntington’s. As we teach her to drive and begin discussions about college, our role as parents becomes both more rewarding yet more complex.

Three weeks ago, the balance shifted, as Bianca and I became temporary caregivers for Regina: she underwent an operation to repair a torn rotator cuff and must keep her right arm in a sling for at least six weeks.

Completely interdependent

Caregiving is about all of the little – but really big – things we humans do for each other.

It’s how families, hospitals, and nursing homes run.

We are completely interdependent.

As we’ve helped Regina over the past several weeks, the meaning of caregiving has become ever more clear to me.

It involves small but important tasks: bathing her, spraying on deodorant, buttoning her shirt, adjusting her sling, driving her to doctor’s and physical therapy appointments, taking over her share of car pool duties, providing assistance in the kitchen, exercising her disabled arm – these and many more tasks have highlighted for me the importance of caregiving, taught me to be more sensitive to Regina’s needs, and reminded me of what’s most important in life.

Despite a busy high school life, Bianca has helped out, too.

It’s brought us closer together.

Bianca (left), Regina, and Kenneth Serbin (aka Gene Veritas) (photo by Bianca Serbin)

Valid and important emotions

I’m certainly no saint. I’ve done my share of grumbling! And sometimes I feel overwhelmed.

As I’ve learned from news items posted on Facebook HD discussion pages, caregiving experts say it’s okay to experience feelings associated with caregiving such as anger, boredom, frustration, and impatience.

“Whether you become a caregiver gradually or all of sudden due to a crisis, or whether you are a caregiver willingly or by default, many emotions surface when you take on the job of caregiving,” a recent article at Dementia Today states. “Some of these feelings happen right away and some don’t surface until you have been caregiving for awhile. Whatever your situation, it is important to remember that you, too, are important. All of your emotions, good and bad, about caregiving are not only allowed, but valid and important.”

As another article suggests, caregivers need to face emotions directly, find healthy ways to release anger, share feelings with close friends, and take breaks to pursue enjoyment.

These recommendations can apply to short-term caregiving situations such as recovery from an operation but also to long-term situations involving HD, Alzheimer’s disease, and other afflictions.

Overlooked and undervalued

Until my mother went into a nursing home in the final months of her life, my father cared for my mother’s daily needs with the assistance of a professional caregiver who visited their home a few hours each week. He helped her in the bathroom, fed her, and pushed her wheelchair.

She was the love of his life. He was stubborn about accepting more help at home and getting her physical therapy, but each day he climbed with her into the HD trenches.

Not once did I hear him complain. Maybe he should have!

In our celebritocracy, such dedication goes unrecognized. Each year family caregivers are estimated to provide the equivalent of nearly half a trillion dollars in unpaid care.

In America, care and caregiving are “overlooked and undervalued,” writes Zachary White, Ph.D., the author of the blog The Unprepared Caregiver.

Unlike highly valued, professional jobs, informal caregiving isn’t considered a career.

“Parents and relatives and friends won’t be able to brag about your experiences.” Dr. White writes. “There are no ‘schools’ of informal caregiving – no Harvard or Stanford to use as a guiding goal from which others can respect and admire. Others may speak highly of your role and your efforts, but it begins and ends there.”

While taking care of loved ones, members of the HD and other neurological disease communities have long advocated for better caregiver assistance and nursing home care – including disease-specific instruction for health aides. These will remain daunting challenges for the foreseeable future.

Preemptive caregiving

I believe that Regina’s devotion to me and our family is a big reason why I’ve passed my mother’s age of HD onset. She helps provide for the family by working as a full-time elementary school teacher; she sees to it that Bianca and I eat healthily; and she supports my HD advocacy.

She has done a lot of preemptive caregiving.

Caring for Regina during her recovery and remembering my mother’s struggles with Huntington’s have led me to reflect on my future caregiving needs.

As I race against the genetic clock and await the development of treatments for this incurable disorder and a health care system more responsive to those with brain diseases, I want to avoid becoming a burden on my family.

By maintaining good health in the present, I can perhaps reduce that future burden.

However, I know that, for each HD family, this is uncharted territory. We can forge ahead by caring for our our family members – and for the larger community.

Woody Guthrie, Huntington’s disease, and our duty to improve caregiving

By revisiting the huge, long-abandoned New Jersey mental hospital where radical songwriter and performer Woody Guthrie struggled for five years with the symptoms of Huntington’s disease, photographer and author Phillip Buehler provides us with a valuable new perspective on the crisis in care for people disabled by neurological disorders.

In Woody Guthrie’s Wardy Forty: Greystone Park State Hospital Revisited (Woody Guthrie Publications, Inc., 2013, 162 pages), Buehler, a specialist on derelict buildings, captures the rooms, corridors, and grounds of the psychiatric facility that housed Guthrie between 1956 and 1961. It had over 6,000 patients and had some 2,000 employees at its height in the 1960s.

A companion volume, Woody Guthrie’s Wardy Forty: The Interviews, provides background from those who knew Guthrie or are involved in the campaign against Huntington’s. (Click here to purchase the books.)

Woody Guthrie (above) and the new books about his time at Greystone Park State Hospital (below) (photos from www.woodyguthrie.org)

Utterly debilitated and unable to speak, Woodrow Wilson Guthrie, the composer of “This Land is Your Land,” died of Huntington’s at Creedmoor State Hospital in Queens, NY, in October 1967 at the age of 55.

Today the United States has an estimated 5.4 million Alzheimer’s disease patients, and an additional 14.9 million family members and friends cope with the disease as caregivers or in other ways. About one million people suffer from Parkinson’s disease.

Huntington’s disease (HD) patients number 30,000, with an additional 150,000-250,000 at risk. The government classified HD as an “orphan,” or rare, disease because of the relatively small number of people affected (fewer than 200,000). Numerous other disorders have similar symptoms. By mid-century, as many as 120 million people worldwide will suffer from dementia.

The world must shoulder a massive caregiving burden. Most people affected by such illnesses will require care ranging from in-home assistance to admission to a nursing home.

While researchers have made strides studying the symptoms, causes, and treatment of these conditions, caregiving has not advanced. Professional caregivers typically earn very low wages and receive little training. Even many doctors cannot properly diagnose rare disorders such as HD.

“Long term care remains a scandal in the United States,” Alice Wexler, Ph.D., a board member of the HD-related Hereditary Disease Foundation and author of two books on the disease, writes in a brief history of the disease included in Buehler’s book. “Persons living with HD and their loved ones – and all those with chronic neurodegenerative and psychiatric illnesses – still struggle mightily to find appropriate and affordable support and care, at home while they are still able, in facilities when they are not.”

In a case that shocked the HD community, in May 2013 a 49-year-old, late-stage HD patient was allegedly strangled in an Oregon nursing home by another patient whom police described as suffering from “severe dementia.”

To complicate matters further, the Genetic Information Nondiscrimination Act does not provide protection to people seeking life, disability, and long-term care insurance. Thus, as genetic testing, including full DNA sequencing, promises to become ubiquitous, people run the risk of not getting the coverage they will most need as they live ever longer lives. Only three states (California, Oregon, and Vermont) prohibit this type of discrimination.

Lives instantly transformed

My own family has struggled with Huntington’s disease since the late 1980s, when my mother Carol Serbin started having strange swings in mood. A few years later, she developed chorea, the involuntary movements most Huntington’s sufferers develop, causing some to appear as if they are dancing.

Nobody in the family understood what was wrong until in 1995 a neurologist suspected Huntington’s. Just two years before, researchers had concluded a two-decade quest to find the disease-causing gene, which they called “huntingtin,” like the disease named for the American physician George Huntington.

In 1872, Dr. Huntington published an article describing HD’s symptoms and definitively establishing it as a genetically transmitted condition. Everybody has this gene, which is essential for life, but when it expands beyond its normal size, it causes brain cells to die. The discovery of the gene allowed for a definitive test for the disease, though, unfortunately, science has yet to provide effective treatments, much less a cure.

Receiving the news of my mother’s diagnosis the day after Christmas 1995, my wife Regina and I saw our lives transformed before us in an instant. With no treatment or cure, HD was fatal. All children of an affected parent had a 50-50 of inheriting the condition. Most people experience disease onset between the ages of 30 and 50, and everybody with a certain degree of gene expansion or greater will develop the condition.

My mother’s diagnosis and the fear that I might carry the genetic expansion compelled me to fight back in any way I could. Regina and I immediately started attending the local support group of the Huntington’s Disease Society of America (HDSA), and I became an HDSA advocate.

I began writing about my experiences in this blog. Because of fear of genetic discrimination, until recently, I performed all of this behind the scenes, for example writing under a pseudonym, Gene Veritas.

The fear that I carried the mutation led Regina and me to postpone starting a family. By 1999, however, we agreed to try. First, I decided to get tested. I was especially worried about transmitting the mutation, because sometimes men pass on an even longer expansion, resulting in an early-onset form known as juvenile Huntington’s.

Our worst fears were confirmed: I had the same expansion as my mother and would likely develop the disease in my forties or fifties.

We then embarked on the most difficult decision of our lives: the testing of our daughter in the womb (so-called preimplantation genetic diagnosis was not yet available). After weeks of waiting for the results, we received the happiest news of our lives: our “miracle baby” was HD-free! Today Bianca is a thriving middle school student.

The genetic mirror

Throughout this period, I juggled my roles as college professor, father and husband, and Huntington’s disease advocate – all while watching my mother’s inexorable decline. In addition to her psychiatric symptoms and chorea, she suffered from the third manifestation of the HD triad: cognitive loss and dementia.

“Each encounter with my mom became a view into a nightmarish genetic mirror,” I wrote to a physician friend who included my story anonymously in a September 2005 Washington Post article on HD. “I watched her body jerk, head bob, and fingers fret. One night I found her wandering around our house confused and half naked. Within a year she lost most of her capacity to speak. She ate clumsily with her hands.”

Around that time, because my “HD warrior” and caregiver father Paul could no longer care for my mother at home, he placed her in a nursing home. She died quietly in her sleep in February 2006, at 68.

Paul and Carol Serbin (photo by Gene Veritas)

Finally seeing the beauty

Following Guthrie through the pages of Buehler’s books, I was prompted to reflect on my relationship with my mother as she struggled with HD as well as on how our system of caregiving must improve.

Disease communities are used to emphasizing the devastation of the their particular conditions. The devastation is real. But there is more to the person than the illness. I regret not having the emotional strength and presence of mind to have seen my mother more as a person and less as a mind and body racked by the symptoms of Huntingon’s. Because I had tested positive for the mutation, often “my fear of HD kept me from sitting down with her and attempting to converse,” I once wrote.

In the “Foreword” to The Interviews, Guthrie’s daughter Nora recalls her own hesitancy as a 15-year-old to reach out to her father and how she ultimately learned to appreciate the man who, despite HD, understood his daughter’s feelings, a man who possessed “twinkling eyes and a mischievous grin, releasing us all to live our own lives completely and wonderfully, taking each day and each situation as it comes.” Her father “lived with this disease, but he never became Huntington’s disease.”

“As I turn these pages, I can finally see a beauty that has taken me over fifty years to recognize,” Nora writes of Buehler’s photographs of the hospital where she, her mother Marjorie, and brothers Arlo and Joady visited Guthrie on the weekends and held picnics on the lawn, the children often playing in a large tree their father dubbed the “magicky tree.” “These images are merely ruins, the gross leftovers, the little pieces, chipped and peeling fragments of a life felt and lived so vividly and boldly.”

Discrimination and misdiagnosis

The Guthries’ story became my family’s story, too. I remembered how I had travelled from my home in San Diego to visit my mother in the nursing home in suburban Cleveland shortly before she died. She shared a room with a woman paralyzed from the neck down. The attendants tried to feed my mother but didn’t give her much more than a few spoonfuls before quitting. Always patient, my father had done a better job of feeding her when she was still at home. He would feed her once a day at the nursing home, too. Still, she was losing energy, slowly slipping towards death.

As the books recount, Guthrie faced the kind of discrimination still faced by HD people today: police officers and member of the general public often believe that HD people are drunk. In 1956, Guthrie was picked up by New Jersey state troopers, who thought he was a vagrant. Only after a phone call from a friend did the troopers comprehend that he needed medical attention.

At first, the medical personnel at Greystone refused to believe Guthrie’s claims to have written thousands of songs. Instead, they described him as “delusional” and diagnosed him as a paranoid schizophrenic. HD is frequently misdiagnosed, in part because many doctors have little or no knowledge of the disease.

“Paranoid schizophrenia was a very common misdiagnosis – as were others including Parkinson’s disease, Alzheimer’s, all kinds of psychiatric illnesses and people were just locked away,” says Dr. Michael Hayden, a world-renowned HD expert and leader in the quest for treatments, in an interview with Buehler.

It took years to discover the cause of my mother’s difficulties. She, too, had received different diagnoses, and some of her doctors seemed indifferent or unwilling to get her to the right specialist. At first she was put on Haldol, an anti-psychotic also used to try to control chorea in HD. I quickly learned, however, that neurologists who understood HD avoided Haldol because of negative side effects, so we got her off of it as quickly as possible.

A difficult environment

The first two images in Buehler’s work are Guthrie’s Greystone intake photographs, which Buehler found in the basement of the admissions building, shown on the next page in a recent shot by the author. Later we come across Guthrie’s bed in Ward 18 of the clinic building.

Images of Greystone Park State Hospital and a letter written there by Woody Guthrie (photos from www.woodyguthrie.org)

“I remember one time walking through the entire ward with beds lined on both sides to get to my father’s bed at the very end,” Nora recalls in the accompanying text. “The walk seemed to take forever. All around us were strange people yelling, talking to themselves, uninhibited or somber.”

I’ve learned that most HD patients are mixed in with individuals with other conditions in facilities where personnel have little, if any, knowledge of HD. HD family members must often educate health personnel about the disease. Perhaps my mother would have lived longer had there been a nursing home with appropriate enrichment activities for her condition.

Guthrie lived most of the time in Ward 40, which, with his typical mirth, he nicknamed “Wardy Forty,” as in the 1956 letter that appears in the book. Although HD by this time had robbed Guthrie of his ability to play guitar, he continued to write frequently, although ever less legibly.

My mother was always in charge of balancing the family checkbook and writing Christmas cards. For a while after HD struck, she continued these activities. She used a ruler to make perfectly straight lines on which to write addresses. She eventually lost the ability to write.

A caregiver’s dedication

In a 1956 play titled “My Forsaken Bibel [sic],” written at Greystone, Guthrie responds to a friend’s question about how he inherited HD from his mother: “Hit my mother Nora Belle when she was about 40. Made her just go into such violent fits and such violent kinds of spasms that, well, she just wreckd [sic] and just wracked every single house we did live in. My cardiographer over yonder in Brooklyn just told me my mother’s chorea sorta passled [sic] on to me here.” Nora Belle died in an Oklahoma mental hospital in 1929.

My mother loved to sew. I remember the Halloween costumes and other clothing she made for me. One day she just stopped. She left scores of patterns unused. Like Guthrie, I love writing. I have already passed my mother’s age of onset. How much longer before HD erodes my ability to express myself? Will I need to go into a nursing home? Will a treatment be found?

Marjorie loved and cared for Guthrie despite the fact that they had separated about a decade earlier because of strains over the disease. They eventually divorced. Near the end of Wardy Forty, Buehler places photographs of the couple at her Queens home, where she would take her husband for visits.

“She stripped him of his clothes and scrubbed him in the bath, sprinkling him with talcum powder and singing, 'Doesn’t he smell sweet now!'” Nora recalls in the accompanying text. “She would wash and iron his clothes, sew up the tears, and dress him like a mother dressing her child for a first day of school.”

Once my father, daughter, and I went with my mother to a park. My mother needed to use the rest room. We had to lift her from her wheelchair and maneuver her clumsy and unresponsive body into the stall. It was like moving dead weight. She nearly fell. When she was finished, we had to repeat the process in reverse. Later, in her final months of life in the nursing home, my father visited her every day. Dejected by her death, his own dementia worsened dramatically. A year after she died, he started taking a large, beautiful, framed picture of her wherever he went, including restaurants. In 2009 he, too, died in a nursing home

Time to stop ‘throwing away’ people

The final two images of Buehler’s book are of Guthrie’s Greystone discharge photos from April 1961, which contrast with the 1956 frontal intake photo. Initially, Guthrie looks into the camera. His expression is sad, but he appears relatively healthy. Upon discharge, however, he casts his eyes downward, typical of the difficulty HD-affected individuals have with visual focus. He appears to have lost much weight.

Arlo was 19 when his father died. That same year, he released the song “Alice’s Restaurant,” a protest of the Vietnam War draft. In 1969 he starred in the Hollywood movie based on the song and performed at the Woodstock Festival. Arlo himself never tested for HD and has not shown symptoms.

In Wardy Forty, Arlo has a strong message about Greystone and its residents: “These places were built so that they wouldn’t be a burden on society. You could throw away your odd child, put him in one of these towns, almost like sending people to Australia from England years ago. Penal colonies. And so it’s no wonder why they ended up in this sort of notoriously bad scene. They were set up from the very beginning to be away from the world, and not be part of it. Greystone is a real monument to that.”

The idea behind Greystone still largely governs our outlook on care for the neurologically disabled.

People across the country are acting to correct the situation. Maria Shriver and former Supreme Court Justice Sandra Day O’Connor – both lost loved ones to Alzheimer’s – have warned the public of the Alzheimer’s “tsunami” about to hit America.

In Vermont, HD activists successfully advocated for state laws preventing inappropriate transfers of nursing facility residents and requiring public assistance for home-based and community-based care. At the national level, HDSA is pressuring Congress and the Social Security Administration to update long-outdated and inaccurate disability criteria for HD and to waive the two-year waiting period for patients to receive Medicare benefits.

Responding to press reports of corruption and abuses and requests from advocates, California state legislators in January announced twelve bills aimed at addressing the inadequate care in the state’s assisted living facilities and nursing homes.

Indeed, the time has come to develop a more compassionate society by valuing both the person cared for and the caregiver.