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).

‘Concussion’: advocating for the truth about brain diseases

In this era of growing concern over sports injuries, increased prevalence of neurological diseases, and pioneering brain research, the just-released movie Concussion hits home.

With Will Smith starring as the Nigerian-born Dr. Bennet Omalu, a forensic pathologist in the Allegheny County, PA, coroner’s office who was the first to identify a debilitating brain disease in deceased former National Football League (NFL) players, Concussion reveals how powerful political and financial interests prioritize profit over health, trying to bend or even snuff out inconvenient scientific knowledge.

Concussion also shows how scientists and physicians must sometimes go beyond the lab – even risking their jobs – to advocate for the truth.

As a Huntington’s disease advocate also keenly interested in the condition studied by Dr. Omalu, chronic traumatic encephalopathy (CTE), I applaud how Concussion helps raise awareness about brain health.

Like HD-affected individuals, people with CTE can suffer from symptoms such as depression, wild mood swings, forgetfulness, irrationality, insomnia, dementia, and suicidal behavior.

Dr. Omalu’s fight to get out the word reminds me of the long struggle against ignorance, stigma, and denial faced by families confronting HD and other rare and neurological conditions.

‘Trauma chokes the brain’

I watched Concussion on December 27. It dramatically portrays Dr. Omalu’s discovery of CTE in the brain of Mike Webster after the former Pittsburgh Steeler star lineman died in 2002 at the 50, having struggled with behavioral issues, depression, and other cognitive difficulties.

At the end of his life, estranged from his family, Webster lived in a pickup truck. Suffering from severe insomnia, he would shock himself with a Taser gun in order to fall asleep.

Using data from the Webster autopsy, Dr. Omalu and other researchers published an article in the scientific journal Neurosurgery suggesting that the impact of Webster’s football career caused CTE.

Dr. Omalu then found CTE in two other dead players.

“Repetitive head trauma chokes the brain,” Dr. Omalu declares in Concussion.

Ignoring the evidence

“You’re going to war with a corporation that owns a day of the week,” warns Dr. Omalu’s boss, coroner Dr. Cyril Wecht, portrayed by Albert Brooks, in reference to the immense popularity of the NFL.

Betraying both ignorance and arrogance, the NFL tried to force Omalu to retract his research, something a scientific journal would do only in the case of plagiarism or falsification of data. Concussion depicts that ill-fated attempt and Omalu’s resultant indignation.

Unable to stop Omalu, the NFL, led by Commissioner Roger Goodell, then turned on its effective public relations machine.

As shown in the film, it also ignored Dr. Omalu, refusing to allow him to even enter the room at a league meeting held to discuss his findings. They were instead presented by Dr. Julian Bailes, a former Steelers team physician – played by Alec Baldwin – who had become convinced that football endangered players.

As Concussion depicts, Dr. Omalu and his wife were forced out of Pittsburgh. He took a job as the chief medical examiner in San Joaquin County, CA, but continued to press the issue of CTE.

You can watch the Concussion trailer in the video below.

Mounting statistics

Concussion, for all its painful drama, actually takes a relatively mild approach For example, it doesn’t show all of the toll football took on Webster’s body and mind.

Complementing Concussion, the award-winning Frontline documentary League of Denial: The NFL’s Concussion Crisis, shows photographs from the Webster autopsy and delves more deeply into the science and politics of CTE. It originally aired in 2013 and replayed this month in anticipation of Concussion.

Two League of Denial collaborators, ESPN journalists Mark Fainaru-Wada and Steve Fainaru, have described the issues of CTE and football head trauma as a “public health crisis.” 

As noted in League of Denial and other media reports, NFL doctors and officials have consistently tried to downplay the CTE evidence. Among their claims: the number of dead players examined was too small to qualify as scientific evidence, and some players endangered themselves with issues such as steroid abuse.

“You can’t go against the NFL,” says the real Dr. Omalu in League of Denial. “They’ll squash you.”

However, as Frontline revealed in an online report in September and in this month’s broadcast of its documentary, the statistics are now overwhelming: 87 of 91 NFL deceased players tested positive for CTE. That’s a rate of almost 96 percent. With semi-professional, college, and high school players included, the figure is 79 percent.

A young star retires

The League of Denial update highlighted the case of Chris Borland, a highly aggressive tackler for the San Francisco 49ers.

“I knew of CTE,” Borland said in an interview for the program. “I didn’t know what the acronym stood for. I started with Google searches. I started looking at things: what does this term mean? Where is the research done?”

Borland understands that as a player he was prone to both receiving and inflicting trauma-producing hits. “You understand on a certain level what you’re doing,” he said, “but you don’t know the science behind it.”

In March 2015 Borland spoke to Robert Stern, Ph.D., of the Boston University CTE Center.

The documentary update cuts to an interview with Stern explaining that knocking heads in pro football is the “equivalent of driving a car at 35 MPH into a brick wall, a 1,000 to 1,500 times per year.”

After that call, Borland immediately retired from football.

“The idea that just the basis of the game, repetitive hits, could bring on a cascade of issues later in life, it changed the game for me,” he explained.

Is football safe?

Borland’s decision shocked the sports world.

Goodell immediately began damage control.

“I think our game has never been more exciting,” he said in a TV interview replayed by Frontline. “It’s never been more competitive. And I don’t think it’s ever been safer.”

“It’s dishonest, and I don’t think it’s responsible, to say that the game is safer,” Borland countered in the Frontline report. “I think that’s just not true, and the players themselves on the field know. I mean, they’d scoff at that. That’s not accurate.”

Borland recalled that the NFL’s own actuaries estimated that 30 percent of the league’s veterans would develop brain damage.

“I really don’t watch football anymore,” he said.

Concussion safety advocate Chris Nowinski, a former Harvard University football player and professional wrestler, said of Borland’s retirement: “It really made me wonder: if every NFL player had the access to the information he has, would they make the same choice?”

You can watch a Frontline report on Borland in the video below.

Continued risks

A steady flow of other reports in 2015 further highlighted the risks of football.

In August, a research study underscored the growing concerns about the impact of youth football.

In November, lawyers for the thousands of former NFL players and families who were awarded a $1 billion payout from the league for cognitive difficulties from concussion-related injuries returned to court to request an appeal so that CTE can be covered in the settlement. A decision on the appeal is expected in early 2016.

Also in November, the family of Pro Football Hall of Famer Frank Gifford, who died in August, revealed that he suffered from CTE and had shown signs of cognitive debilitation.

That month, continued weaknesses in the NFL’s concussion policies became evident as several players suffered conditions but continued to play because they were diagnosed only after their games.

Refusing to back down

Contrary to Concussion’s and Dr. Omalu’s assertions that he discovered CTE, medical researchers have been investigating the disease since at least the 1940s.

At that time, they focused on the risks of boxing. It’s no surprise that doctors and researchers have now found the disease in football players.

The themes of Concussion are deeply familiar to neurological disease communities. In the Huntington’s community in particular, affected families, advocates, researchers, and drug developers witness both the majesty and delicateness of the brain on a daily basis. We seek badly needed treatments for an incurable disorder that disables people physically and cognitively, turning them into a mere shadow of themselves.

Although ignorance and denial might still lead some to view HD as some personality quirk – just as deniers of football trauma dismiss the link between head trauma and behavioral problems – the informed members of the HD community know that this medical condition can be explained by science.

Despite the campaign against him, Dr. Omalu refused to back down. He drove home how dangerous football can be. The film reminded me of my realization years ago that I could no longer watch football with a clear conscience. Now I rarely watch it at all.

Those affected by HD, Alzheimer’s, Parkinson’s, Lou Gehrig’s, traumatic brain injury, and the myriad of other neurological and rare diseases should also not back away from their commitment to advocacy. Dr. Omalu’s example gives us courage to keep fighting for a clearer understanding of these conditions, better care for those who suffer from them, and ultimately the development of effective treatments.

Click on the links below to read my previous reports about the concussion crisis.

"It's playoff time - and a reminder that brain health comes first"

"Junior Seau, Super Sunday, and our most important national resource"

"Finding America's passion: the NFL and Huntington's disease"

New film unmasks the raw reality of Huntington’s disease

A new, award-winning documentary film, The Huntington’s Disease Project: Removing the Mask, reveals the raw reality of HD so thoroughly and authentically that it should become required viewing for health care professionals and trainees in the neurological field.

This 100-minute film, not yet released widely, is also a must-see for the HD community and the general public, although it will likely cause many to recoil from what it calls the “monster” tormenting HD-affected individuals and their families.

As an HD gene carrier and long-time grassroots advocate who saw his mother succumb to the disease, I consider myself a hardened observer.

Even so, Removing the Mask shocked me with its exploration of the lives of HD-affected individuals and caregivers, including producer and narrator James Torrington Valvano, diagnosed with HD in 2009 yet still able to function sufficiently to make the film.

With an anthropologist’s eye, James probes the many layers of HD reality – and the hearts of its victims.

Removing the Mask delves into the wide range of issues HD families face, including medical challenges and social disruption.

The HD community will recognize many of them, although they are rarely discussed so openly in a medium such as film: ignorance about the disease, misdiagnosis, denial, family tensions, rage and aggression, genetic testing, financial devastation, caregiving, and loss of the affected individual’s independence, to name just a few.

Removing the Mask does not shy away from the most difficult themes: inaccurate racial interpretations of HD by physicians, associated sexual disorders, suicide, the exclusion from clinical trials of HD people with suicidal tendencies, and mercy killing. It also pays close attention to juvenile HD, often omitted in the overall conversation about HD.

In striving for a comprehensive view of HD, Removing the Mask adamantly advocates for a broad understanding of the disease by medical and psychiatric professionals, relevant government agencies, and the public. This includes recognition of HD as not just a movement disorder, but also one involving cognitive, emotional, and behavioral difficulties.

Although Removing the Mask mirrors the detailed information about HD known to specialists, many non-specialist health professionals don’t understand the disease.

Removing the Mask is not a textbook-like film but a genuine illustration of the disease. Rather than a medical or scientific authority explaining HD for us, in the film we feel the pain as the affected and their loved ones tell us what it's really like to have the disease.

James brings it all to life with testimonies that are brutally honest.

You can watch the Removing the Mask trailer in the video below.

Shaving seven hours a day

At James’s invitation, I recently watched the film by myself in a private online session on my home computer.

One of many poignant segments concerns John and Sue Wright of Kent, England. John, who liked to work with computers before he fell ill, was diagnosed with HD in 1992, and soon thereafter Sue became his caregiver. In the film, she describes his mental decline.

“He was waking every morning threatening to kill me and throw me out the window,” Sue recalls. “He was sharpening knives in the kitchen constantly, and he was assaulting me. I always reported the assaults, for my own safety, to the police, but never wanted him prosecuted. I knew it was the disease making him behave this way, and not his intention.”

To avoid harm, Sue moved out, although she returned home up to seven times each day to care for John.

John developed a condition experienced by a number of HD-affected individuals: obsessive-compulsive disorder (OCD).

“He was obsessed with any paper towels, tissues, etc.,” Sue remembers. “He would pile them up and keep them. If I attempted to throw them away, he would retrieve them from the rubbish bin and put them back in their piles.

“He was also obsessed that any facial hair would suffocate him. So he started shaving for up to seven hours a day, making his face red raw.”

Starving himself to death

Sue had to have John legally committed to a mental health facility.

“This was a horrific experience, as the police were brought into the house in riot gear, and he was dragged out of the house still trying to eat his lunch,” she explains. “My twin Sheila was wonderful. She stepped into the house when [it] happened so that John would blame her rather than me for what happened. This gave her nightmares for quite a considerable period but thankfully did preserve John’s and my relationship.”

Over the next several years, John lost his ability to walk and speak. Eating also became extremely difficult. When asked if he wanted a feeding tube, Sue says in the film, John violently shook his head no.

“John indicated that he’d had enough when he started refusing to eat and drink,” she says. “His quality of life was non-existent, and I knew he wanted it to be over.”

Mercy killing is illegal in the United Kingdom. “My only option was to help him as he starved himself to death,” Sue says plaintively.

John died in 2006. He was 56.

‘We have a face’

At the film’s outset, James declares that the HD monster “caused so many people across the world to hide behind masks, masks of silence.[…] It was time to destroy the monster. Our goal was very simple: to remove the mask of Huntington’s disease.”

He adds: “It was time to show the world that we have a face.”

A former mental health care professional and small business owner forced to quit after his diagnosis, James began work on the film in 2011, with a powerful short showing people taking off masks and saying “I am no longer a faceless face” (click here to read more).

Before the short, he had never made a film, although he had studied communications, film, and psychology at St. John’s University in Jamaica, NY, for a while in the early 1990s.

James decided a film was the best way to get out the word about the disease.

“It frustrated me and so many people that no one was telling or showing the real truth behind he disease,” he said. “Advocacy is more than walking, fundraising, wine-tasting, and dinners. All of those ways to advocate are important, but they alone were not working. How can we expect the world to know about HD if we are not willing to get outside the box?”

In addition to his work as an advocate, James cares at home for his older brother John, now in the advanced stages of HD, with the assistance of his spouse, Ian V. Torrington. James’s father died of HD and cancer. Five other siblings and numerous other relatives are at risk for HD. Ian also cares for James.

Ian V. Torrington (left) and James Torrington Valvano (personal photo)

To support the project but also to network globally to raise the profile of HD, James and other advocates from HD families formed WeHaveAFace.org.

Recently granted nonprofit status, the organization provides online and mobile support to the HD community. Activities include fundraising for HD research and family assistance, online support groups, the production of a quick reference guide about HD for police and rescue workers, and a mobile application with ample information about HD.

A number of WeHaveAFace.org’s U.S-based regional advocates tell of their struggles with HD in Removing the Mask.

According to James, he spent less than $7,000 on the film, with funds coming from a t-shirt campaign, other small donations, and “heavy hitting on my credit cards.”

‘We need the world to watch’

According to my conversations with James via Facebook, he and his film team held “dozens upon dozens” of Skype calls and exchanged thousands of e-mails in the background research for the Removing the Mask.

Not everybody agreed with James’ direct approach. According to him, one advocate broke off from the project “because I was tackling suicide.”

James himself admitted experiencing powerful emotions during the project.

“Filming the topic of suicide was one of the most difficult and painful experiences in my life,” he wrote in a digital journal kept during the production. “As a filmmaker you want to get the rawness of the topic, but as a person with Huntington's disease, my heart and soul ached through every second.”

In the film Cindy Dupree, an HD-stricken woman from Alva, Oklahoma, and her husband Ron speak hauntingly about suicide.

“I am not ashamed or afraid to talk openly about suicide, because it affects so many people within the Huntington’s community,” says Cindy.

“I know that she battles thoughts of suicide each day, and I fear that I will receive that call that ‘your wife has just taken her life,’” says Ron. “I can only imagine how other caregivers feel. I know they are fighting the same battles we are. I am angry a lot of the time and do my best to realize and understand that it is the disease and not my wife.”

Cindy says that knowing Ron and their three daughters rely on her keeps her “grounded.”

“The documentary was never created for the Huntington's community,” James added. “We had to get outside the box and set our aim on the general public. Although I believe and hope that the film will resonate within our own community, we need the world to watch exactly what we go through.”

How to see the film

WeHaveAFace.org celebrated the official launching of Removing the Mask on June 20 in James’s hometown of St. Cloud, FL. He has entered it in about a dozen film festivals in the U.S. and abroad.

It won in the category of best feature documentary in the July 2015 monthly competition of the Miami Independent Film Festival.

James hopes to make the film available to the general public in early 2016 via DVD, Blu-ray, and Vimeo.com. He is also hoping to include it on Netflix and iTunes.

For now, organizations and support groups interested in showing the film as part of an HD awareness-building or fundraising event can do so by registering at this link.

The dilemma of illness

The Huntington’s Disease Project: Removing the Mask joins a group of high-quality documentaries about HD launched in recent years, including The Lion’s Mouth Opens, a courageous HBO film about filmmaker-actress Marianna Palka’s decision to test for the genetic defect.

With its unapologetic presentation of HD, Removing the Mask will stir controversy not just about Huntington’s, but also the way in which people and institutions deal with the terrible challenges of neurological disorders in general.

After watching the film, I kept remembering the dilemma I faced six years ago when I was directing the construction of an independent website for the Huntington’s Disease Society of America’s (HDSA) San Diego chapter, whose board I served on.

Should the homepage use positive, “feel good” images to advance our cause? Or should it show the harsh realities of HD? One of my fellow board members, a public relations specialist not from an HD family, cringed when I showed him some of the photos of gaunt HD-affected individuals I was proposing for the site. I indeed used some of those photos on the site (which is no longer operative).

I don’t know if I did the right thing.

I believe that Removing the Mask faces the same dilemma. It’s raw, but will it ultimately be effective?

I believe that it can be in the health care community. Removing the Mask would make a fine multimedia companion to HDSA’s A Physician’s Guide to the Management of Huntington’s Disease.

Professionals and students in the medical professions must see this film. So must public officials like the administrators at the Social Security Administration and doctors who evaluate HD-affected individuals for disability. And so must general medical practitioners, neurologists, psychiatrists, and others who potentially come into contact with HD patients.

I’m hoping that the Miami festival award indicates that the general public is also ready to help destroy the monster of HD.

(Note: I have a very small part in the film, where I take off my own mask, but otherwise had nothing to do with the content.)

Police killing of man with Huntington’s disease spotlights need for affected families to emphasize proactive, dignified approach

The shooting death of a Philadelphia-area man apparently suffering from Huntington’s disease, which perhaps led him to try to run over police officers with his car, has once again raised the perilously common issue of how police misunderstand HD.

Beyond prompting anger and the need for better police preparation, the death of Joseph A. Pacini can also stir the HD community to combat the stigma of the disease, redouble efforts towards treatments, and emphasize the dignity of affected individuals.

According to reports in the Philadelphia Inquirer (click here and here), Pacini, 52, died Dec. 30, 2014, in a town near Philadelphia after officers from three departments fired at least 22 shots, wounding him in the head, neck, shoulders, and chest.

Pacini’s one-time girlfriend and a close friend told reporters that he suffered from HD. Family members said that Pacini’s father, who had HD, committed suicide when Pacini was 21.

For the second time in less than four months, the incident raised the issue of police response to HD-afflicted individuals. In September, police in the small town of Westover, WV, held down Jeffrey Bane for nearly ten minutes after he clashed with officers; he struggled to breathe and pleaded for help. A bystander captured the scene on video (click here to read more).

Investigators in the Pacini case are conducting tests to confirm his HD status and whether he was using drugs and/or alcohol. The local district attorney is also investigating the justifiability of the shooting.

(Sadly, most media reports missed the HD angle. One, in the New York Daily News, reinforced the ignorance and stigma surrounding neurologically and mentally impaired individuals by poking fun at Pacini and referring to him in tabloid parlance as a “sicko.”)

Joseph A. Pacini (from his Facebook page)

A volatile situation

According to the Inquirer, Pacini led a troubled life, failing to finish his college studies, posting conspiratorial and threatening YouTube videos, and fighting with his mother, the police, and others.

“[HD] is very often confused with schizophrenia, especially with those who do have the mental disorder predominant in the beginning," Louise Vetter, CEO of the Huntington's Disease Society of America (HDSA), told the Inquirer. She said that HD can involve "paranoia, anxiety, really, really strong fixation on things.”

“HD does not fit well into the norms of society,” advocate Jonathan Monkmeyer, a Philadelphia-area resident whose wife Sheryl died of HD in 2009 at 46, said in a Facebook conversation with me. Jonathan did not know Pacini, but as Sheryl’s full-time caregiver for many years he understood the awkward and difficult social situations HD people face.

“This describes another tragic end to a difficult life for a person thought to have HD,” Martha Nance, M.D., the director of the HDSA Center of Excellence at Hennepin County Medical Center in Minneapolis, MN, and the author of the preface to HDSA’s Law Enforcement Training Guide, wrote in an e-mail after reading press coverage of the incident.

“It is easy to focus on the police departments’ actions that directly led to Mr. Pacini’s death, and shout for a different approach, criticize the police for ‘not knowing he had HD,’” she added. “But I’m not sure that the presence or absence of HD would necessitate a difference in the officers’ approach to a volatile situation.”

In the Pacini case, mental illness independent of HD seemed to play a role, Dr. Nance observed. She pointed to the “general issue of access to mental health care” as a key factor in such situations.

“In medicine, we believe that the police need to be involved if there are homicidal threats, and we, too, call the police if we feel that we are unsafe or in danger as we see a patient in the clinic or the hospital,” Dr. Nance emphasized.

‘Be more public about HD’

“The other issue, and more relevant to the HD community, is WHAT CAN WE DO to keep our Joseph Pacinis from getting to these kinds of crisis points,” Dr. Nance continued. “And I think the first thing is to be more public about our disease.  HD families, more than anyone else, treat their disease as a terrible secret, a stigma, something to hide and be ashamed of. This creates a mindset that passes through the generations, that HD is like being in a terrible underground tunnel filled only with darkness, and the only way out is suicide, or to emerge with explosiveness and anger.”

By avoiding genetic testing and contact with doctors, HD people “delude themselves into thinking that they are not entering the dark tunnel,” she wrote.

The community needs to stop viewing HD “with hopelessness and despair,” she added.

“What makes a difference is what you do BEFORE you die,” she wrote. “I can tell any number of amazing stories of amazing people with HD and their families who have done amazing things for themselves, each other, the HD community, and the world at large.  There IS life after a diagnosis of HD, but it can’t emerge if you are stuck in the dark tunnel.”

Everybody in HD families can and should to get involved, Dr. Nance observed.

“If you are scared, find a support group, or talk to your parent, sister, cousin, friend, pastor, teacher, or perhaps even your doctor,” she wrote. “If you have a family member who is unconnected, floating out there, undiagnosed, struggling, reach out to them. Bring them to an HD meeting, or have them come with you to YOUR appointment.”

Enroll-HD: proactive participation

I was numbed by the news of Joseph Pacini’s death.

After I had explored the Jeffrey Bane incident and then noted in my most recent article that HD activists had skillfully reacted by building HD awareness at an international police officers’ conference just weeks later, the Pacini incident seemed surreal.

Emotionally, I cast about for a way to react. I concluded that I could do nothing in the case of someone who had already died.

Then, reflecting on Dr. Nance’s encouraging words, I focused on how I could best contribute to the cause: I went for my January 5 appointment to register in Enroll-HD, a worldwide registry and observational study of HD patients, HD gene carriers like me, untested at-risk individuals, family members, and volunteers.

Enroll-HD aims to facilitate scientific understanding of HD, identify potential participants in all-crucial clinical trials, and therefore speed the process of finding treatments. Enroll-HD is sponsored by the CHDI Foundation, Inc., the non-profit virtual biotech focused solely on developing HD therapies.

I recalled what Joe Giuliano, CHDI’s director of clinical operations and the chief Enroll-HD administrator, told me last year: the larger the pool of potential clinical trial participants, the faster trials can take place.

At the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego, I provided a research assistant with information on my health and HD status, answered several health- and HD-related questionnaires, performed a battery of cognitive tests, underwent a neurological exam, and gave three vials of blood, which will be used to confirm my gene-positive status and provide evidence in the search for HD biomarkers (signs of the disease that can be used to test the efficacy of potential drugs).

I also participated in several HD research studies sponsored by the Center of Excellence.

A nurse (above) prepares to draw blood from Gene Veritas for the Enroll-HD study (photo by Ajay Nathan, HDSA Center of Excellence research assistant). Below, Gene Veritas and Ajay Nathan discuss Gene's participation in Enroll-HD (photo by Andrew Herndon, HDSA Center of Excellence).

Striving for a life lived well

During the four hours of testing, I worried that I might someday lose control as Joseph Pacini did.

My thoughts were troubled: what if I act aggressively towards my wife and daughter?

I found strength in Dr. Nance’s concluding observation about the HD-affected and gene carriers:

“A life lived WELL with HD can resonate into future generations just as easily as a difficult life or a terrible death.”

As long as I can, I will strive to defeat HD by assisting in the search for treatments and by spreading awareness and understanding.

Support from unaffected relatives makes big difference in fight against Huntington’s disease

May is Huntington’s Disease Awareness Month.

Building awareness in the fight to defeat HD means expanding knowledge of this deadly brain disorder beyond directly affected individuals and their families. Ultimately, an effective campaign must actively involve the unaffected, both relatives and friends.

George Essig epitomizes the dedication of the unaffected relative.

For families like mine – my mother died of HD in 2006, and I carry the genetic mutation – individuals like George bring hope alive.

“I remember as a child my uncle walking in a very clumsy manner and at one family event even spilling his entire plate of food on the living room floor,” George says in the May 15 edition of “Faces of HD,” a daily autobiographical advocacy mini-profile disseminated via e-mail and social media by the Huntington’s Disease Society of America (HDSA) during May. “People kind of looked away. My aunt cleaned things up amidst the awkwardness. My uncle got progressively worse and could not enunciate his words.

"I remember that the family thought his son, my cousin, as a young boy was mirroring his father's actions. We found out of course that he had child onset Huntington's disease. He died at age 19."

George Essig

Nobody in George’s extended Midwestern family wanted to talk about HD, he remembers.

“My parents would not talk about it,” he continues. “I learned my grandfather had it. My uncle tried to commit suicide in the basement of his home using gasoline from the lawnmower. My cousins' boyfriends at the time had to clean it up.”

In 1975, George moved to San Diego.

“Huntington’s was lost in my memory,” he says. “I am one of eight kids. It wasn't until my Dad was in his seventies that we figured he did not inherit the defective HD gene.”

About twelve years ago, George and a sister, Kathleen Martinek of North Carolina, started wondering what had happened to the branch of the family affected by HD. As they got back in touch, they learned of the terrible devastation wrought by the disease.

Eventually they would discover that HD had stricken not only his grandfather and uncle, but another uncle, an aunt, three cousins, and a number of second and third cousins.

The disease also caused collateral damage, devastating those who lived at risk but did not develop symptoms.

“I found out recently from (a cousin), now 69, who we had lost track of, that she experienced the deterioration of her entire family and her own mental health,” George says. “She doesn’t want to talk about Huntington’s disease. She and her husband adopted children.”

George assumes the cousin had preferred to adopt rather than run the risk of passing on the mutation to biological children. Each child of an HD-affected parent has a 50-50 chance of inheriting the mutation.

To learn more about HD and the effort to stop it, George contacted members of HDSA-San Diego. In 2006, he joined the chapter board of directors. (I served on the board from 1998-2010.)

“I would like to help raise money for a cure and educate people about Huntington’s – starting with my own family and friends,” George said in an article about him that I wrote for the HDSA-San Diego newsletter.

I noted that George and his wife Theresa lived in Poway, CA. The couple has three grown daughters, who work in medicine, law, and education. George's hobbies include growing avocados, and he enjoys swimming and bicycling.

For about a year, George quietly observed the other board members at work. At the time, he told me he was searching for an effective niche on the board.

George Essig studies documents at the May 2007 meeting of the HDSA-San Diego board of directors (photo by Gene Veritas).

George had an infectious smile, but he was also very earnest and persistent in his efforts to make a difference for the cause.

A television and radio marketing specialist, George started to parlay his contacts in the local business, media, and pro sports communities into support for HDSA. He also generated ideas for fundraisers and advocacy efforts.

In 2012, George became the HDSA-San Diego board president. Since then, he has devoted most of his work days to leading the chapter’s continuing efforts to raise awareness and obtain funds for research towards treatments and a cure.

That year, he presided over the chapter’s 12th annual gala, which raised a San Diego chapter gala record $155,000 for HDSA.

“Volunteering works both ways as I have learned that I get a great deal in return and dream of the day, which we are all encouraged about, that a treatment for HD will be discovered,” George says in his HDSA profile. “And of course, that day can’t come soon enough.”

After reading his profile, I e-mailed George: “Thank you for sharing your family's powerful and haunting story – and your message of hope. If more unaffected relatives of the affected helped out, as you do, we'd be much further along in this fight.”

Learn more about George and his advocacy in the photos below. To donate to HDSA, please click here.

George and Theresa Essig (right) with San Diego Chargers quarterback Philip Rivers (in blue tie) and Essig daughters and sons-in-law at 2009 HDSA-San Diego Celebration of Hope Gala (photo by Mike Nowak). The San Diego chapter's signature event, the Hope Galas have brought in over $1 million for care and cure of HD since 2001. 

George speaks at the April 2011 meeting of the San Diego HD support group (photo by Gene Veritas). Each year the chapter board meets once with support group members to discuss chapter activities.

George with daughter Julie and wife Theresa at December 2013 screening of the HD documentary Alive and Well (photo by Gene Veritas)

George addresses the crowd just before the start of the 2014 HDSA-San Diego Hope Walk on April 13 (photo by Gene Veritas). The event garnered more than $40,000 for HD care and cure.