At-risk Angels pitcher Joe Smith at Huntington’s fundraiser: ‘I’d give every dime I have for a cure’

No one person is the face of Huntington’s disease the way ALS is associated with Lou Gehrig or Parkinson’s disease is linked with Michael J. Fox. But HD touches many lives, including some we know from major league sports.

Choking back tears, 31-year-old Los Angeles Angels baseball pitcher Joe Smith remembered the phone call three years ago from his father back in his native Ohio that changed his life forever: his mother had been diagnosed with Huntington’s disease.

“Unfortunately, I got a call driving home from our spring training site in Goodyear, Arizona, from my dad,” Joe told an audience of over 400 people at a San Diego fundraiser on October 10. “He told me: mom had HD.”

Then Joe recalled when his mother Lee came on the phone on that day in February 2012, not long after she had received her genetic test results confirming she had HD.

“I’ll never forget the sound of her voice,” he said. “It was just empty. It was the worst. I never heard anything like it. That stayed with me for a long time, that sound, when she said, ‘Hi, Joseph,’ but the way she said it […] was different. And it hurt. It still does, obviously. This time, when she got the news, I still didn’t know a whole lot about HD. But obviously, when you get off the phone with the parents and got a 30-minute drive, there’s a lot of thinking that goes on.”

He’s done a lot of thinking – and action – since then.

For his efforts to raise awareness and funds for the HD cause, Joe received the Guthrie Award of the Huntington’s Disease Society of America (HDSA) at the San Diego chapter’s 15th Annual Celebration of Hope Gala, held this year at the spectacular coastal residence of Craig and Rebecca Irving. Craig is a businessman and philanthropist.

Above, Joe Smith and mother Lee (photo by Gene Veritas, aka Kenneth P. Serbin). Below, Celebration of Hope Gala attendees mingling before the start of dinner and the formal program (photo by Mike Nowak).

Staring HD in the face

Joe remembered his family’s four-hour drives from southern Ohio to Cleveland to visit Lee’s mother, who, the family knew, suffered from HD. Seeing his grandmother’s progressively worsening symptoms at each visit left Joe sad and concerned as a child and teenager.

“I think that’s the scariest part,” Joe continued. “It’s one thing, I think, to go through life, or to have something that not necessarily you don’t know about, but […] my mom took care of my grandma, she went to doctor visits with my grandma, she was on the phone all the time with my grandma.

“When you know the road you’re heading down, and right now there’s nothing that you can do about it, you’re just going. You’re hoping there’s light. You got hope. You got faith. But at the end of the day, right now, there’s no cure.”

Lee did not speak at the gala but talked about her symptoms in a brief video shown to the audience.

“She stares it right in the face every day,” Joe said, referring several times to his mother’s fortitude.

Joe ended his speech with a call to boost fundraising for HD research.

“I’d give every dime I have if they had a cure today,” he declared.

You can watch Joe’s speech in the video below. View other videos of the event by clicking here.

Los Angeles Angels' Joe Smith: 'I'd Give Every Dime I Have for a Cure for Huntington's Disease' from Gene Veritas on Vimeo.

Taking public action

As the children of an HD-affected parent, both Joe and his 29-year-old sister Megan Nein have a 50-50 chance of inheriting the genetic defect.

Joe has previously talked to the press about his fears of living at risk.

“My sister has three kids and she hasn't been tested,” Joe said last March. “I got married recently, and I'll get tested before we have kids.”

He didn’t speak directly about his fears at the gala, but they were palpable throughout his speech.

Both Joe's and HDSA CEO Louise Vetter’s comments once again demonstrated how HD can devastate the extended family because of its genetic cause and difficult caregiving burden.

“It’s not easy to come out and say you’re from an HD family,” Vetter said in introducing Joe. “If one of your parents has it, you don’t know if you have it or not. So it takes a lot of courage to face your future.”

Recalling Woody Guthrie’s widow Marjorie’s founding of HDSA in 1967, the organization recognized Joe with the Guthrie Award because of his “bravery” in confronting HD, she said.

Too often conversations about HD take place “behind closed doors,” Vetter observed.

The Smith family has “made it public and they’ve created a call to action,” she explained.

HDSA CEO Louise Vetter (photo by Mike Nowak)

The community emerging as its own spokesperson

For older generations of Americans, songwriter-activist Guthrie symbolized HD.

In recent decades, with younger generations unacquainted with Guthrie, many in the Huntington’s community have attributed the lack of awareness about HD – ironically one of the most common of the rare diseases – to the lack of a celebrity such as Michael J. Fox in the sphere of Parkinson’s disease.

Without national opinion polling on HD, we can’t really know if this is the case.

What’s important is that more HD family members are telling their stories publicly than ever before, and HD is gaining exposure.

Like 33-year-old filmmaker-actress Marianna Palka, who revealed her HD genetic test results in an HBO film that premiered in June, Joe is emerging as a key new spokesperson for the HD cause.

Two other successful athletes – former Olympic rower Sarah Winckless and former National Hockey League player Jake Dowell – have shared their HD stories.

In June, another, award-winning film, the documentary The Huntington’s Disease Project: Removing the Mask, was released.

Networking for the cause

Joe’s advocacy is helped by the fact that professional baseball maintains a huge fan base.

Joe and his family have started a foundation, Help Cure HD, to raise money for research on deep brain stimulation (DBS) as a potential treatment for HD. (For years doctors have used DBS to treat Parkinson’s disease.) So far Help Cure HD has raised nearly $400,000.

Joe’s wife is Allie LaForce, a TV reporter for CBS Sports. In January, Allie did a feature on Bill Johnston, the public relations director of the National Football League’s San Diego Chargers, and his fight against HD. Bill’s wife Ramona, who has HD, now lives in a nursing home.

The main mover behind the smartly produced HDSA-San Diego galas, Bill has helped raise several million dollars for HDSA through those events and numerous others.

Bill uses his contacts in the upper echelons of business and pro sports to invite speakers like Joe and garner corporate sponsors such as the B. H. Gold Insurance Agency. HDSA also honored B.H. Gold President Bill Habeger with the Guthrie Award for his support of the cause.

“May these galas soon be victory galas,” Habeger told the audience.

HDSA-San Diego President Burt Brigida (left), B.H. Gold President Bill Habeger, HDSA CEO Vetter, and HDSA-San Diego immediate past president George Essig (photo by Mike Nowak)

From the heart, emboldening our community

As they arrived at the gala, I introduced myself to Joe, Lee, Joe’s father Mike, and Tim Mead, the Angels’ vice president for communications.

I told Joe that I was also from Ohio, that my mother had died of HD, and that I carried the genetic defect. I told him that he could rely on the San Diego chapter, HDSA, and me for anything he and his family might need in the struggle against HD.

Lee and I shared a few words about our common Cleveland connection. When she mentioned that she was 56, I said I was right there with her at 55.

At 56, my own mother had the involuntary movements typical in HD and was starting to lose her ability to reason.

Joe (left), Lee, and Mike Smith with Tim Mead, vice president for communications, Los Angeles Angels (photo by Gene Veritas)

I thought of how lucky I was to remain asymptomatic and participate fully in the gala.

After his speech, Joe asked my opinion.

“You hit it right on the mark,” I said. “You spoke from the heart.”

Later, just before the end of the gala, I spoke again with Joe. “We are brothers in this cause,” I said, putting my arm around his shoulder.

Joe raised awareness and money, but most importantly he has emboldened our fellow HD brothers and sisters to join the fight. Having every dime in the world won't bring treatments unless we have enough participants in the all-crucial research studies and clinical trials.

Joe Smith (left) and Gene Veritas (photo by Mike Nowak). Watch more videos of the gala by clicking here.

At key FDA meeting, Huntington's disease community insists on faster search for treatments

The Huntington’s disease community sent a powerful message to the U.S. Food and Drug Administration (FDA) at the September 22 meeting on HD patient-focused drug development: the agency must do its utmost to facilitate clinical trials and speed the search for effective treatments.

“We discovered the gene – we don’t have a cure,” declared Nancy Wexler, Ph.D., the famed researcher who initiated the search for the huntingtin gene while watching her mother suffer and ultimately die from HD. She addressed the panel of ten FDA officials and audience of some 200 HD family members and advocates at the agency’s headquarters in Silver Spring, MD. “We did that [discovery] in 1993.”

Along with Wexler, two panels of HD family members selected by the FDA to make presentations about the disease and current lack of effective remedies, as well as other participants in the unusually large meeting, described HD’s cruel devastation and the exhausting burden for caregivers.

The Huntington’s Disease Society of America (HDSA), which advocated for the meeting under the new requirements for patient feedback established by Congress for the FDA, sought to provide the FDA with a more tangible and comprehensive view of HD’s reality, all too familiar to affected families.

The FDA doesn’t conduct drug research, but its regulators must approve all clinical trials and new drugs in the U.S.

The plethora of symptoms

Many presenters and audience commenters emphasized the plethora of cognitive, behavioral, and other symptoms involved in HD in addition to chorea, the involuntary movements traditionally but erroneously labeled the key diagnostic signifier of the disease.

“I have all of the symptoms that have nothing to do with chorea,” stated presenter Julie Rosling, 72, of Orange, CA. Forced to retire some ten years ago from her pharmacist job, Julie participated on the five-person panel about the daily impact of HD.

I first met Julie almost 20 years ago in San Diego at the local HD support group, several years before I tested positive for the genetic defect that causes the disease. At most meetings the group had three breakouts: for the affected, caregivers, and untested individuals and asymptomatic gene carriers. Julie and I participated in this last breakout group. Sharing our most intimate fears about HD, we became friends.

I hadn’t seen Julie in a few years. I had long admired her intelligence, profound knowledge of HD science, and healthy lifestyle. My wife and I viewed Julie as a model for avoiding HD and, once her symptoms started, for living with the disease. She has late-onset HD, in contrast with most patients, who experience onset between 35 and 55.

From left to right, Frances Saldaña, Julie Rosling, Reed Rosling, and Gene Veritas (aka Kenneth P. Serbin) (photo courtesy of Frances)

‘I can’t play Chopin anymore’

At the FDA meeting, I was shocked and saddened to see how the disease had, as Julie put it in her presentation, greatly affected her demeanor.

“There are so many different types of symptoms,” Julie said, adding that HD must no longer be seen as just a brain disease. She described how she can no longer drive, suffers from insomnia and gastrointestinal difficulties, and fears choking, a common problem with HD.

“I fall all the time when I go up and down the stairs,” she continued. “The thing that’s the most important […] is that my symptoms are affecting every system in my body.”

Sadly, HD has robbed Julie of many favorite activities. Each December, Julie, a painter, sent out exquisitely designed holiday cards. Several years ago, she wrote in her holiday card that she could no longer paint the cover for her cards.

Those beautiful cards always brought me a glow of hope. I have missed them.

“I can’t play Chopin on the piano anymore,” Julie said at the FDA. “I can’t walk to the corner and back.”

HD has hampered her social interaction, too, because of her slurred speech.

“My symptoms have never gotten better,” Julie concluded. “They get worse every single day. I am a living example of what this disease is all about.”

Once again, I had looked into the genetic mirror and viewed my own highly probable future decline.

You can watch Julie’s presentation in the video below. To watch other presentations, click here to visit my video album of the meeting.

'I Can't Play Chopin on the Piano Anymore' from Gene Veritas on Vimeo.

FDA ‘blown away’ by turnout

“I think it was a very successful day,” said HDSA CEO Louise Vetter in an interview with me shortly after the meeting. “I’m really pleased with how full the room was, not only from the patient and community side, but also the FDA. They had a full docket of folks who wanted to be in the meeting to listen to the HD community.[…] There were more FDA staff in the room than is typical for a public hearing.”

The FDA’s level of interest demonstrated its “commitment to paving the way for new therapies for HD,” Vetter added. The FDA was “impressed” with the “urgency” and “commitment” of the HD community.

“The FDA was blown away,” she said, adding that the agency at the last minute had to set up a room “three times larger than what they planned.”

FDA regulators at the Public Meeting on HD Patient-Focused Drug Development (photo by Gene Veritas)

Several dozen HD community members participated in the hearing via webcast. In addition, representatives attended from CHDI Foundation, Inc., the nonprofit virtual biotech focused exclusively on the search for HD therapies, and the pharmaceutical industry.

The HD hearing took place in the morning, followed by a Parkinson’s disease meeting in the afternoon. The FDA had initially combined HD and Parkinson’s concerns into a single event, but HDSA convinced the agency to divide the meeting because of significant differences in the two conditions and the different treatment approaches, Vetter explained.

“We had more people than Parkinson’s had planned, and given the difference in prevalence, the FDA really took notice,” she said.

“I’m just so pleased with how many caregivers and family members really came prepared to succinctly share their stories and open up about the impact of the disease and their hopes and wishes. I know that the FDA heard that.”

FDA regulators Leonard Kapcala, M.D. (above) and Peter Como, Ph.D., and Lei Xu, M.D., Ph.D. (below) watch presentations by HD advocates (photos by Gene Veritas)

Still time to submit comments

HDSA requested the hearing as soon as the Congressional mandate for patient-focused feedback to the FDA went into effect in 2012. HDSA told the FDA that it could learn much from HD as a genetic disease, given a clearly identified gene and a community of affected families with a serious need for treatments, including preventative remedies for presymptomatic gene carriers, Vetter noted. HDSA also said HD could be a case study for understanding and treating other diseases.

In addition, HDSA will submit to the FDA survey responses from 3,600 HD-affected individuals and family members regarding the impact of symptoms and desired treatments, Vetter noted in her public comments at the hearing.

The public can provide further feedback to the FDA until November 23, 2015, by clicking here.

Several months after the public comment period closes, the FDA will complete a “Voice of the Patient” report on HD, Vetter told me. HDSA will carefully review the report and provide feedback.

You can watch Vetter make her public comments in the video below.

HDSA CEO tells FDA: Study the Broad Feedback from from Gene Veritas on Vimeo.

Advocating for the presymptomatic

During my brief remarks (audience members got only two minutes per commentary), I told of my mother’s demise, our daughter’s gene-negative status after testing in the womb, and my luck at remaining presymptomatic at 55, well beyond the point where my mother experienced many symptoms.

“I would like to see a medication that prevents me from ever getting any kind of symptoms,” I said. “There’s got to be a really open dialogue with the scientists on the new areas such as gene-silencing.”

I referred to the disappointment among HD advocates that the first gene-silencing clinical trial for HD, by the Carlsbad, CA-based Isis Pharmaceuticals, Inc., is happening outside the United States. (Phase I of the trial started in July in Europe and Canada; click here to read more.) I remarked that some drug company executives think the FDA too inflexible regarding new approaches. I urged the regulators to consider the new biomarkers (signs of disease and drug efficacy) scientists are seeking to measure in the blood, cerebrospinal fluid, and brain measured with new techniques.

Many presymptomatic people don’t get tested “because of the immense fear of the disease and the fact that there are no treatments,” I added during the final round of comments. “There’s also associated with genetic testing and getting your results a lot of suicidal tendencies.”

I recalled my suicidal fantasies from the early years of my family’s struggle with HD, when I saw my mother declining. Those ended after the birth of my daughter, I added.

“The presymptomatic population out there really needs to be part of the conversation,” I urged.

The urgent need for treatments

The FDA regulators, unsurprisingly, offered little comment on the proceedings; they wanted to listen and learn.

After returning home, on September 25 I requested an interview to follow up on the above-mentioned points, and more, including calls from families with juvenile HD patients for JHD-specific approaches to clinical trials and treatments. I have not yet received a response, but will write an update when I learn more.

However, HDSA CEO Vetter recalled for me the nub of her conversation with William Dunn, M.D., a neurologist and the FDA’s director of the Division of Neurology Products, immediately after the meeting. Dr. Dunn had welcomed the participants at the meeting’s start.

“He’s very committed to this,” Vetter said, referring to the search for HD treatments. “He was very impressed, very grateful for the input of the families, and very committed to making sure that, as therapies move forward to FDA consideration, they will be efficient in their review, that the FDA’s not sitting on anything. The last thing they want to do is be accused of keeping something meaningful out of the hands of families. They’re very committed to being very expeditious and thorough.”

Along with many fellow HD family members, I believe that the FDA gained a clearer understanding of our community’s suffering and the urgent need for treatments.

* * *

For the FDA’s recording of the meeting, click here. Be sure to visit my video album for other perspectives expressed at the hearing. For additional photos from the meeting, click here.

For the perspective of Parkinson’s specialist Jeanne Loring, Ph.D., click here.

(Note: HDSA paid for my travel to Silver Spring and a night of lodging. The views expressed in this article are wholly mine.)

HD advocate Katie Moser (left), HDSA CEO Louise Vetter, and advocate Emma Burris (photo by Gene Veritas)

As he lay dying: FDA and Huntington’s disease families meet to ponder potential treatments

On Tuesday, September 22, when the U.S. Food and Drug Administration (FDA) focuses on Huntington’s disease drug development at a meeting with affected individuals and advocates, HD families must drive home the sorrowful truth: people are dying because of the lack of effective treatments.

About two weeks ago, shortly after pouring out my heart about my family’s HD struggles on the FDA’s pre-meeting questionnaire, I received a message from the mother of 18-year-old Terry Leach of San Diego: “It’s Terry’s final days if you wanted to say good-bye.”

A couple days later, on Labor Day, I visited Terry, who suffers from juvenile HD, in his bedroom. As Terry slept, his mother Angela and I looked on. Next to us a home healthcare worker prepared a can of liquid food to be administered via a feeding tube attached to Terry’s abdomen. Hospice workers are also helping.

“He grew a lot,” I said to Angela, amazed at how, despite the particularly cruel toll of juvenile HD, his body had strived to develop. It had been more than a year since I had last seen Terry.

“Yes, he did,” Angela said.

I noticed Terry’s beard and his healthy head of somewhat wiry, dark brown hair.

“You have a very handsome son,” I continued.

“Thank you,” Angela said.

Terry Leach resting at home (family photo)

Unspeakable pain

As Angela nervously shifted her balance from foot to foot, I sensed that she continued to carry the unspeakable burden that comes with juvenile HD: Terry’s first symptoms as an infant, his need for a full-time aide in school after losing his ability to walk and talk, the insertion of the feeding tube in 2010, Botox injections into his arms and legs in recent years to relieve pain, and leg and foot operations, among other procedures and hospitalizations.

Although Terry still attended school last academic year and also the summer session, he has declined considerably in the last few months, Angela said.

The night before my visit, he vomited after receiving liquid food through his tube. On the day I visited, the aide would give him only one can instead of the usual two, noting that his body would not accept anything more than that very small amount.

I asked Angela if I could touch Terry.

“Sure,” she said softly.

I ran my hand along the top of his hair. I remembered Angela and her family’s steadfastness in caring for Terry. I also recalled fondly our collaboration in the cause, starting with an article I wrote about them in 2009. In 2012, Terry emerged as “SuperTerry” in an artist’s comic-book like rendition as a hero defeating HD. In 2014, our families participated in the 2014 Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America.

SuperTerry in San Diego artist Lee Ellingson's rendition (above) and with Gene Veritas (aka Kenneth P. Serbin) at the 2014 Team Hope Walk (below, photo by Misty Oto)

Seeking feedback from the community

As Terry lies dying, the September 22 FDA event, a public meeting on “patient-focused drug development,” will seek feedback from affected individuals and others in the HD community.

The meeting will occur from 9 a.m.-12:30 p.m. at the FDA’s White Oak Campus in Silver Spring, MD. Pre-registration for attending the meeting and viewing via webcast is closed, but the FDA will make available a video of the proceedings shortly thereafter.

The meeting stems from the reauthorization of the Prescription Drug User Fee Act in 2012, in which Congress required the FDA to more systematically solicit input from patient communities with regard to drug development. The FDA hopes this will help its review process.

Huntington’s disease became one of just 20 diseases selected by the FDA for a patient-focused meeting through the end of 2015.

‘Nothing for neurological disorders’

Responding to the preparatory questionnaire, I revealed my situation as a carrier of the HD genetic defect and my mother’s decline and death from HD in 2006.

“I fear that I will become like my mother,” I wrote. “She had mild chorea [involuntary movements associated with HD]. I would not mind having chorea as long as I can continue to be myself, work, and not become a burden on my wife and daughter. My mother became a shadow of herself. I have great anxiety about losing my personality and ability to work as a college professor and writer.”

Like others, I would like to see a treatment that prevented symptoms, I added.

“If I get symptoms, then I would like a medication that allows me to manage the disease just as other diseases such as diabetes are managed without affecting a person’s livelihood, family life, or activities in general,” I continued. “There are lots of advances in cancer treatments, for instance, but really nothing in the field of neurological disorders that prevents, halts, or reverses the condition.”

I uploaded my response to the FDA’s public docket regarding the meeting. Anybody can comment at that link through November 23, 2015.

Speeding up clinical trials

At the meeting, I also plan to urge FDA officials to allow researchers and clinical trial administrators to use new technologies to measure the effect of medicines.

All clinical trials of new drugs taking place in the U.S. must receive the approval of the FDA, considered to have the world’s most rigorous standards. Although the drug industry executives I have met recognize the importance of that rigor in assuring the manufacture of safe and effective drugs, they sometimes have also expressed the need for the FDA to be more flexible and allow for faster clinical trials.

Generally, the FDA still does not accept techniques such as brain scans. HD researchers and other scientists are vigorously searching for biomarkers – signs of disease and drug effectiveness – in the blood, cerebrospinal fluid, and other materials taken from the body that can be measured using the scans and other new techniques.

Instead of waiting for a doctor’s clinical observation of an improvement, these techniques could potentially allow faster and earlier reading of a drug’s effectiveness.

I will stress that the FDA work closely with scientists and the HD community to make clinical trials as efficient and meaningful as possible.

Speed is of the essence for the HD community.

Heartbroken by another loss

As of this writing, Terry is stable, but his prognosis is not positive.

To give me strength as I travel to Maryland on September 21 and take part in the meeting the next day, I will keep fresh my memory of Terry.

I am heartbroken by yet another loss to HD.

As an advocate, I feel I have failed to fulfill the promise of hope presented so often to families such as the Leaches. No 18-year-old should die.

I am comforted to know that Terry is in loving hands – and that he never gave up, always smiling that infectious smile. And I am committed to making sure policymakers know of the people whose lives they could improve and save.

Terry in 2010 as a Hero of the Carlsbad Marathon

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.)