Annual Huntington Study Group meeting reveals an HD community energized to aid families, develop treatments

Moved online because of the COVID-19 pandemic, the 27th Annual Huntington Study Group Meeting nevertheless revealed an HD community committed to aiding affected families and developing cutting-edge treatments.

Originally scheduled for Atlanta, GA, the virtual conference took place from October 29-31, with more than 800 scientific and medical participants from around the world. The meeting featured two days of presentations concerning care of HD-afflicted individuals, as well as updates on key clinical trial programs, aimed at producing drugs.

 

On Family Day, which drew an estimated 180 additional people, the affected, caregivers, and advocates heard both expert presentations on coping with HD and highlights regarding research.

 

Research moving full steam ahead

 

Martha Nance, M.D., a long-time member of the Huntington Study Group (HSG) and the director of Family Day organizing committee, kicked off that event with a reflection on the “highlights and lowlights” of 2020 so far. A neurologist and frequent sounding board for this blog, Dr. Nance is also the medical director of the Huntington’s Disease Society of America (HDSA) Center of Excellence at Hennepin County Medical Center in Minneapolis, MN.

 

We all know the lowlights, Dr. Nance said: the COVID-19 pandemic, the death of George Floyd in Minneapolis, the 2020 election with its uncertainty, and climate change.

 

“For me, a highlight of this entire year was this meeting,” Dr. Nance said, referring to the great progress in HD research. “The last two days we heard about more things than you can shake a stick at.”

 

Dr. Nance listed the important developments detailed in the scientific talks, including several innovative ways to potentially block the harmful effects of the mutant huntingtin gene. Both the scientists and family members got updates on GENERATION HD1, the historic, in-progress gene silencing clinical trial by Roche aimed at reducing the amount of toxic huntingtin protein in the brain.

 

At the conference, several speakers referred to temporary slowdowns in research programs because of the new safety protocols resulting from COVID-19. Dr. Nance also noted difficulties in accessing some HD community members because of the pandemic in the U.S. and abroad, although she also has observed a helpful “explosion” in telemedicine.

 

However, despite the uncertainty about overall scientific research funding because of the COVID-19 crisis, “research is alive and well in Huntington’s disease,” Dr. Nance stated. “If what happened at this meeting continues, research in Huntington’s disease is moving full steam ahead.”

 

“I found the meeting to be energizing,” Dr. Nance concluded in an e-mail to me on October 31.

 

For detailed reports of the research presentations, see HDBuzz’s coverage by clicking here and here.

 

For the next year, HSG is providing access to on-demand recordings of the conference talks and other events. Click here to register for access.

 

‘Heroes,’ and a thank-you for me

 

Dr. Nance devoted most of her Family Day introduction to counterpoising the difficulties of 2020 with the stories of “heroes” who have stepped up to assist others in the HD community by exercising their unique skills.

 

“We need to hear about some people who’ve done good things,” she explained. “I hope that you can emboldened, empowered by some of these heroes.”

 

Dr. Nance – to my surprise and appreciation – began with the example of me, Gene Veritas (aka Kenneth P. Serbin), the author of this blog, now in its sixteenth year. Dr. Nance recalled how she and I had worked together on our college newspaper (click here to read more). She said that I use my journalistic skills to help inform the HD community, and to be “very up front about my struggles and fears” as a carrier of the HD mutation.

 

I write in this article about myself because Dr. Nance stressed how important it is for the HD community to be informed about its social ramifications.

 

‘I can’t breathe’

 

Dr. Nance recalled my September 2014 report on Jeffrey Bane, a West Virginia man arrested because the police misunderstood his HD symptoms to be the result of narcotics abuse (click here to read more).

 

Dr. Nance replayed the video of a bystander who had filmed Jeff suffering injuries as the police held him to the ground, thinking that, with his involuntary, HD-caused movements, he was resisting arrest. “I can’t breathe,” Jeff said desperately as he asked the officers for help.

 

Jeff only received the help of paramedics after the police had held him to the ground for almost ten minutes, Dr. Nance pointed out. 

 

Then she asked the attendees “to just take a deep breath, pause, and think for a minute.”

 

After 54 seconds elapsed, she resumed her presentation. “Hopefully you took a deep breath,” she said. “I think probably you felt anger, hate, sorrow, sadness, fear, anxiety.”

 

She continued: “We can’t change something that happened six years ago. What we can do is try as hard as we can to keep events like this from happening against in the HD community.”

 

Dr. Nance noted that HDSA has a toolkit for educating first responders, police officers, and fire personnel about HD. The organization provides other resources (such as a special HD ID card) to help HD-affected individuals and their families prepare for potential encounters with the police, she added.

 

(I have explored these crucial themes in other articles. Click here to read more.)

 

‘Your life matters’

 

In examples surely moving to the audience, Dr. Nance presented the stories of several other HD “heroes.” 

 

Inducted into the Minnesota Auctioneers’ Hall of Fame in 2005, Joe, whose wife and daughter died of HD, took “his grief, his sadness, his sorrow” and raised money and bought electric toothbrushes for hundreds of HD-afflicted people, Dr. Nance recalled.

 

As a ten-year-old watching his mother face HD, B. J. Viau started an annual basketball hoop-a-thon that over the years raised some $750,000 for HD research. Among other things, B. J. went on to become one of the founders of the highly active international Huntington’s Disease Youth Organization. 

 

Diagnosed at ten with juvenile HD, Elli started kickball tournaments to support the cause. She became an internationally recognized HD advocate.

 

Dr. Nance also recognized the 791 “heroes” who are taking part in the GENERATION HD1 clinical trial.

 

With HD, she said, it’s easy to become angry, sad, and depressed. However, people can also “stand up tall” to help others. We need more everyday heroes, she added.

 

“Your life matters – not to take away from anybody else whose life matters,” Dr. Nance said in closing. “What you do makes a difference.”

 

Dr. Martha Nance (left) praises the advocacy of juvenile Huntington's disease-affected Elli Hofmeister (in images at right) at the virtual 2020 HSG Family Day (screenshot by Gene Veritas).

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.

Outrage over video of police’s rough handling of man with Huntington’s disease spurs calls for justice, awareness

Amateur video has proven crucial to holding police officers accountable around the country.

Now such video of a police encounter with a man suffering from Huntington’s disease – held down for nearly ten minutes as he struggled to breathe and pleaded for help – shockingly reveals  how rare disease communities must fight against profound ignorance, discrimination, and hostile treatment.

In the small town of Westover, WV, police on September 6 arrested Jeffrey Bane, a 39-year-old father of two from nearby Morgantown, WV, and charged him with disorderly conduct, obstructing an officer, and battery on an officer. At least one officer and a cruiser from the neighboring Granville, WV, police department were also at the scene.

From their actions and attitude, the officers seemed to have no inkling that Bane was ill.

It’s a reminder that police should all be exposed to the Law Enforcement Training Guide produced by the Huntington’s Disease Society of America (HDSA), and that those afflicted by the disease would be wise to carry the “I Have Huntington’s Disease” cards recommended by HDSA.

Behind the incident

Bane has HD, which has left him unemployed. He comes from a family with a long history of Huntington’s and has suffered from the disorder for about five years, though he can still accomplish many daily activities. His symptoms include chorea, the involuntary, often jerky movements typical of the disorder.

Bane had been walking down the street with his toddler daughter in a stroller and carrying his infant son when, in response to two 911 calls alleging concern for the children, police accosted him.

According to a local newspaper that had access to the official police report, the police said that Bane “appeared to be under the influence of narcotics, handled the children roughly and became agitated as officers spoke with him about the children.” The police said the children seemed to be “overheated.”

Jeffrey Bane's police mug shot

When asked what “provisions” he carried for the children, “Bane struck the stroller violently with his hand, pushing it forward abruptly while his infant son was still seated inside,” the official complaint stated. When the officers attempted to restrain Bane, he began to fight. He allegedly kicked one officer and tried to spit on others.

Sara Bostonia, a Grafton, WV, resident and healthcare worker who was driving to her mother’s home in Westover, saw Bane on the ground and started filming the scene with her smartphone. She had not previously known Bane.

“The first thing I saw was blood,” Bostonia said in a phone interview on September 13. “That’s why I stopped. I saw a man with a bunch of other men on top of him. There were no [police] lights on. I just thought there was something wrong about the whole way he was moving.”

Bostonia said that she rolled down her window to get a clearer view.

“I couldn’t believe what I was seeing,” she said. She then started filming.

“I’ve never done that, never,” she continued. “Once he started the gurgling and screaming for help, I could tell he was completely pinned to the ground. I said ‘stop it’ while I was getting out of my car.”

In the video, as the officers hold Bane to the ground, he displays frequent episodes of chorea.

“Stop it!” the officer holding Bane’s head to the ground shouts. Another says: “Stop fighting us.”

“I can’t breathe, goddamit,” Bane says desperately. “Help me. I can’t breathe…. Help me, sir, please help me.”

As Bane appears to choke, one of the officers orders him to “stop spitting.”

“Help me, please,” Bane pleads again. “I’m not trying to fight you guys.”

The officers misinterpret involuntary movements in Bane’s legs as attempts to kick them. They clearly had not been trained to assess the possibility that such actions resulted from HD (or any other condition).

“The scene portrayed on the video is tremendously upsetting and sad to anyone who recognizes the chorea and erratic gait that Huntington's disease causes, that could have been largely or solely responsible for the behavior that led the police to the scene,” 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 the Law Enforcement Training Guide, wrote in an e-mail. “In the courts, we assume that people are innocent until proven guilty, but on the street, there may be an assumption of the worst until the situation defuses.”

During the incident, the children lost contact with their father. They do not appear in the video. Contacted by the police, Bane’s girlfriend Delsie Stup, the children’s mother, came to the scene to pick them up.

Without knowing Bane nor his HD status, Bostonia put the video on her YouTube channel on September 7. To date it has had nearly 120,000 views.

Bostonia said she posted the video because she wants all the facts “out there. Public scrutiny of the facts is paramount. It is our job. We shouldn’t have to police the police, is how I feel about that. As citizens, we do a pretty good job of policing ourselves.”

You can watch an enhanced version of the video on another YouTube channel below.

After receiving medical treatment and posting bail, Bane was released about 48 hours after his arrest.

“Unfortunately, situations like what happened to Mr. Bane happen far too often in America and around the globe,” HDSA CEO Louise Vetter said in a phone interview on September 12. “They are heartbreaking and tragic and they’re why we work so hard to educate the community at large about Huntington’s disease. That’s why it takes all of us sharing our outrage but also committing to educating about Huntington’s disease so that circumstances like this aren’t repeated.”

According to Dr. Nance, no statistics exist on arrests or incidents with the police involving HD-affected individuals. However, difficulties with the police and/or misunderstanding of symptoms – usually mistaken for drunkenness or drug usage – have occurred in many HD families. In 2007 I myself visited a San Diego HD man in jail improperly charged with public drunkenness. HD-affected individuals can appear drunk because of their chorea and also slurred speech.

Outrage in the community

The Bane incident has received newspaper, television, and blog coverage in the U.S. The London Daily Mail also ran an article.

The video has also stirred controversy in the greater Morgantown area of West Virginia, home to small towns dependent on the coal-mining and natural gas industries as well as intellectual life at West Virginia University (WVU), with nearly 30,000 students.

“The arrest video on YouTube of Granville man Jeffrey Bane has caused outrage and accusations of police brutality from those who feel Westover and Granville Police were unfair to a man suffering from Huntington's disease,” observed a report on WDTV, a Bridgeport, WV, TV station.

According to that report, the city of Westover views the incident as a “non-issue.”

"The outrage of anything even close to police brutality in the case of Jeff Bane is totally unwarranted,” Westover Mayor Dave Johnson said in a statement released to the station. “If I had any doubt whatsoever I would be the first to bring the officers involved to the carpet, so to speak.… The City of Westover has moved on."

According to Bostonia, the community was indeed “in an uproar” over the incident. In the wake of intense national discussion following this summer’s police shooting of Michael Brown and riots in Ferguson, MO, “people are trying to get a protest together,” she said. “A couple weeks ago they held a protest for Ferguson with about 20 people down at the courthouse. This one hits closer to home. I wouldn’t be surprised if it happens here, too.”

Sara Bostonia (personal photo)

At the same time, people are worried about the community’s security, she said.

“Everyone in town is invested in this incident in some way,” she explained. “Maybe their brother’s a cop and they’re afraid. Everyone is connected in some way to one another.

“I didn’t want to take that video. I wanted them to detain him properly.”

‘Justice for Jeffrey’

Bane and Stup have issued no public statements, but Bane’s nephew Josh Bane, 22, emerged as the family spokesperson, setting up a public Justice for Jeffrey Bane page on Facebook.

As the son of a father (Jeffrey’s brother) who has already developed HD symptoms, Josh has a 50-50 chance of inheriting HD.

Josh Bane (personal photo)

Josh alleges that the police violated his uncle’s rights. In the search for truth about the incident, he has sought to obtain and release all related information. The extended Bane family is also considering the possibility of legal action and may seek donations to help cover the cost.

“At the end of the day, someone was detained unlawfully for ten minutes and he was held down and choked on his own blood as he begged for help from anybody,” Josh Bane said in a phone interview on September 13. “It doesn’t take that long to detain a 160-pound man with three officers. They mistook his involuntary movements for resisting, when in reality he suffers from Huntington’s – all of this in front of his two children, who were unattended.

“They could have easily cuffed him and put him in the car in 30 seconds and continued on as if it were routine. For some reason, they wanted to punish him for ten minutes. It was a brutal timeout, if you want to be sarcastic about it.”

According to Josh, the police sprayed mace on his uncle and punched him in the face. In the video, blood covers Jeffrey’s face. The Justice for Jeffrey Bane page includes photographs showing the injuries allegedly suffered by Jeffrey in the incident.

View of some of Jeffrey Bane's injuries allegedly suffered in police incident (photo from Justice for Jeffrey Bane Facebook page)

Going to the park

Josh emphasized that, despite suspicions of child abuse and drug usage, the police did not charge Jeffrey with those crimes. He described as false one media report asserting that Stup told police Jeffrey had an “opiate dependency” and that the couple had fought and she was planning to leave Jeffrey. He added that when the officers questioned him about drugs, Jeffrey became “agitated,” offering immediately to take a urine test.

“She wasn’t even home when Jeff left with the kids,” he said, adding that the couple has strived to “hold it together and deal with everything they have to go through.”

“Uncle Jeff was just going to the park with his kids,” Josh said, explaining why Jeffrey was walking down the street with his children.

Josh, who lived in the same home with Jeffrey for several years and has watched him decline because of HD, recognized that his uncle’s symptoms have diminished his life.

“He’s not wheelchair-bound by any means, but the jerking is bad,” Josh said. “He’s not to the point where he’s bedridden. He can’t work. He can’t have a normal life by any means.”

However, Josh also asserted that having HD does not prevent Jeffrey from enjoying his family and exercising his rights as a parent.

Josh asserted that the police misunderstood the HD-caused jerky movement of the stroller as lack of concern for the children.

“Who would deny any person the right to their children regardless of how sick they are?” he said. The children represent the one thing that brings Jeffrey and Stup “joy in the world.”

As part of its report, WDTV showed footage of a surveillance video of Jeffrey walking down the street with his children moments before his arrest.

Josh posted the video on the Justice for Jeffrey Bane with a comment: “My uncle walking just prior to his arrest. Does this look like child abuse? He's simply walking to the store with his kids. You tell me if this warranted him being detained in the manner that he was.”

You can watch the video below.

Seeking to educate the police, society

Serious questions linger about this incident.

In particular, why did the officers simply not put Bane into a police vehicle immediately after handcuffing him? Why did they not respond to his pleas for help? Did the officers have crisis intervention training?

Westover Police Chief Ken Fike did not respond to my request for an interview to discuss the incident. Nor could I reach the Granville chief. I had hoped to raise awareness about HD. I will send both departments a copy of this article and tell them how to obtain HDSA’s above-mentioned Law Enforcement Training Guide.

Other HD advocates focused on the incident are also working on awareness efforts.

“We’ve got to spread awareness,” said Josh. “This is a disease that’s so unknown. People think it’s Parkinson’s. This is different. It completely disrupts the mind. If all that comes out of this is awareness for that, I’ll be happy.”

Be brave about your HD

Josh confirmed that Jeff did not tell the police he had HD. Nor was Jeff carrying the HDSA “I Have Huntington’s Disease” card.

“People with HD need to be brave enough to say ‘I have Huntington's disease,’” wrote Dr. Nance, who was recently invited to write a book chapter on HD in the criminal justice system. “It is up to the people around them, including law enforcement officers, to understand what that means.”

Dr. Nance also pointed out that HD-affected individuals can be extremely “impulsive,” sometimes causing the line between intent and symptom-driven behavior to become blurry.

“And some people with HD do get into drugs and alcohol, so just saying ‘don't hurt me, I've got HD’ may underestimate the danger of HD to self or others,” she observed.

Like Josh and Vetter, Dr. Nance concluded that people should channel their outrage about the Jeffrey Bane incident into proactive, public advocacy.

“Let us all use this opportunity, as citizens, or members of HD chapters, to speak to our local law enforcement – police, fire, emergency – about HD, and to provide them with the HDSA Law Enforcement Training Guide.”

Bidding farewell to CoQ10: a long-studied supplement proves ineffective in the fight against Huntington’s disease

One of the first and most-studied potential treatments for alleviating the symptoms of  Huntington’s disease has proved ineffective, leading researchers to halt a clinical trial of the substance.

Along with many others in the HD community, I have taken the readily available supplement coenzyme Q10 (CoQ10). As I wrote in a February article about the debate over unproven supplements, the lack of a treatment to slow HD’s devastation of the brain led me to take several of these substances in the hopes of staving off onset (click here to read more).

As reported August 13 by the HD science portal HDBuzz.net, the National Institute of Neurological Disorders and Stroke (NINDS) and the Huntington’s Study Group (HSG) stopped the CoQ10 clinical trial this week because of lack of significant results.

“It seems clear now that coenzyme Q10 does not work for HD,” the HDBuzz article stated. “Looking back, the body of evidence used to decide to test CoQ10 in human patients was fairly limited. In fact, recent efforts to repeat the observation that CoQ10 makes HD mice better have failed.”

According to HDBuzz, the trial known as 2Care, was the “largest ever therapeutic trial for Huntington’s disease.” It had enrolled 609 participants with early HD symptoms from 48 sites throughout North America and Australia. Half received a placebo, while the other half took 2,400 mg of CoQ per day – four times the amount that I have taken.

My supplements, including coenzyme Q10 at far left (photo by Gene Veritas)

A natural substance, CoQ10 is found in all of our cells and helps to turn food into chemical energy. Starting in the mid-1990s, scientists hypothesized that CoQ10 might help alleviate the serious energy deficits found in the brains of HD patients.

In another recent clinical trial, CoQ10 was also shown to have no benefit in stopping early Parkinson’s disease symptoms.

After consulting with several HD specialists, I have decided to stop taking CoQ10. Given the demonstrated lack of efficacy against HD, I see no reason to continue.

Also, although inexpensive over-the-counter varieties of CoQ10 exist, I have taken a medical-grade form that has cost me $1,000 per year. (Health plans do not cover supplements.) I can use that money to relieve strain on the family budget and/or spend it on services such as psychotherapy that help me cope with my situation as an HD gene carrier.

For now, I will continue to take other supplements as detailed in my February article: trehalose, creatine, omega-3 oil, and blueberry extract. However, I also plan to carefully rethink this strategy in consultation with my neurologist and HD specialists. (For a 2012 overview of key supplements and HD by Dr. LaVonne Goodman, please click here.)

A process of elimination

“While the results of this study are disappointing to all of us – particularly the people with HD who faithfully took the drug …  every day for as long as five years, and subjected themselves to blood draws and neurologic exams and questionnaires and surveys as part of their participation in the study – they are nonetheless very important,” Martha Nance, M.D., the director of the Huntington’s Disease Society of America (HDSA) Center of Excellence at Hennepin County Medical Center in Minneapolis wrote in an e-mail response to my request for comment. “Knowing that coenzyme Q10 DOESN’T work will spare the HD families of today and tomorrow the expense of the supplement, and the false hope that it created.”

Dr. Martha Nance: trial result ends "false hope" about CoQ10.

“Nobody said that finding a cure for HD would be easy, but I think that HD patients and families should be enormously proud of their efforts in this study – a commitment that can only help us with the future trials and challenges ahead,” Jody Corey-Bloom, M.D., Ph.D., the director of the HDSA Center of Excellence at the University of California, San Diego, wrote in an e-mail.

The process of elimination in scientific and clinical research is a slow, meticulous, but necessary part of the quest for treatments. Only one in ten clinical trials results in an effective drug. Understanding what doesn’t work expands scientists’ knowledge of the disease.

“We can now divert the resources that were going to be used for the 2CARE study to other studies with a better chance of working,” the HDBuzz article pointed out. “In fact, it’s likely that the next year or two will see the launch of several trials targeting specific mechanisms underlying HD, rather than ‘generally beneficial’ compounds like CoQ10.”

Added Dr. Nance: “We are actively pursuing many other avenues in HD research, and hope that many people will share the wonderful attitude of my patient (I will call her Susan), who said: ‘So, Dr. Nance, I'm sorry that this one is over, but now can I enroll in another HD research study?!’”

Closing out a complex relationship

For me, the end of the 2Care trial closes out nearly two decades of a complex relationship with CoQ10.

I first started taking an over-the-counter variety in early 1996, just weeks after learning of my mother’s diagnosis for HD. With a 50-50 chance of inheriting the gene for a devastating, incurable brain disorder that was inexorably destroying my mother’s personality and ability to think and walk, I grasped for whatever might provide the slimmest of hope.

In the mid-2000s, I started taking a higher grade of CoQ10 along with other above-mentioned supplements in a study under the Huntington’s Disease Drug Works program, which at the time emphasized a “treatment now” approach for a community desperate for solutions. After the study ended, I continued to take the substances and paid for them out of pocket.

CoQ became part of my daily ritual. I broke up the 600 mg chalky, yellow, sweetened CoQ10 tablet into four parts, which I took methodically at breakfast, lunch, and before and after dinner.

Although I knew there was no evidence about CoQ10’s efficacy, I believe it may have had a placebo effect. At 54, I have passed my mother’s age of onset. Now whatever placebo effect might have existed will disappear. In my particular use of CoQ10 and the other supplements, however, an actual placebo effect is scientifically unproven. In addition, scientists are getting closer to understanding the factors (such as a modifier gene) that trigger HD onset.

Throughout my journey with CoQ10, I always viewed it as peripheral at best. I believed that the best hopes lay with the potential remedies such as gene silencing aimed at the root causes of the disease.

Knowing the complexity of HD, I knew that a dietary supplement such as CoQ10 provided no more than a sliver of hope.

As I bid farewell to CoQ10 and the idea that it could delay onset, I’m once again forced to rethink how to survive in the gray zone between my genetic test result and the inevitable onset of an incurable disease. With science as a guide, I'm adjusting what is essentially an attempt at self-treatment.

A Compassionate Allowance, and faster Social Security benefits, for the juvenile Huntington’s disease community: a key step for advocacy

In a key step for Huntington’s disease advocacy, children and youths stricken with the juvenile form of HD will receive Social Security benefits faster, thanks to a Social Security Administration’s (SSA) decision last month.

Now that juvenile onset Huntington’s (JHD) is listed as eligible for a Compassionate Allowance (CAL), a ruling SSA Commissioner Michael J. Astrue announced on April 11, those who are eligible for and apply for desperately needed benefits will see their applications approved much more quickly.

“This is an important victory for all families facing juvenile onset Huntington’s disease,” said Louise Vetter, the CEO of the Huntington’s Disease Society of America (HDSA), which lobbied to obtain the CAL. “Currently, applicants usually go through a long decision process and are sometimes denied benefits that are only won after arduous, long appeals.”

HDSA CEO Louise Vetter (photo by Gene Veritas)

When the CAL takes effect on August 13, an individual with JHD will receive approval of his or her application for disability in as little as a few days instead of the months the process currently takes. The change results from the CAL’s simpler application criteria, based on “minimal objective medical information,” an HDSA press release stated.

An estimated 10 percent of the approximately 30,000 Americans afflicted with HD have juvenile onset. JHD joins 165 other conditions, including 52 announced in April, considered so devastating that they merit a CAL.

Streamlining the process

“Over the past several years, we have been working with SSA to streamline the disability application process for HD, and to advocate for a CAL designation for HD through letters, testimony at hearings, face-to-face meetings, as well as legislation such as the Huntington’s Disease Parity Act (HR 718/S 648),” the HDSA release stated.

The fast-track application for Social Security Disability Income (SSI) means that JHD families should receive their benefits one month after completing a short, online application, explained Jane Kogan, HDSA’s advocacy manager. The main requirements will consist of a genetic test for the disease and diagnosis for JHD, she added.

SSI benefits generally amount to monthly payments of several hundred dollars, depending on the applicant’s financial and living circumstances.

SSI applicants must still demonstrate very low income levels to qualify, thus leaving many JHD families without SSI, Kogan observed. (Click here and here to see for SSA eligibility guidelines.) Low-income JHD families can also qualify for Medicaid.

The fast-track process also will cover a JHD youth applying for Social Security Disability Insurance (SSD), although such cases are extremely rare because JHD prevents people from working enough quarters to qualify, Kogan said. Many JHD individuals never work, with some dying in childhood. Even if a worker qualified, he or she would still have to wait two years to receive the first SSD check – a period that HD advocates want Congress to eliminate with the passage of the HD Parity Act, as described below.

“This is just a way to simplify the application process,” Kogan said of the CAL, a concept implemented by the SSA starting only in 2007. “It’s one way the SSA is trying to streamline its application process for conditions that are obviously disabled.”

SSA will publish guidelines for the CAL, including age requirements and criteria defining JHD, on its site on August 13. With the assistance of HD specialists, HDSA provided the SSA with documentation defining JHD and how it causes disability.

HDSA is currently preparing 21 Centers of Excellence, its 38 social workers, and medical professionals to assist JHD families to use the fast-track process. It has also developed a Disability Toolkit (click here to learn more).

Aiming for broader goals

The CAL designation for JHD does not help most of those afflicted by Huntington’s. “We will continue our dialogue with the SSA until adult-onset Huntington’s disease is also added as a CAL condition,” Vetter said.

Despite those limitations, it represents an important advance for the HD movement.

“This is a small, but significant victory for the HD community,” Dr. Martha Nance, the director of the HDSA Center of Excellence for Family Services and Research in Minneapolis and a contributor to the JHD documents, stated. “Recall that we have been working for a number of years to get legislation passed to facilitate the disability process for people with HD. Unfortunately, those advocacy efforts, while important and ongoing, have been slow.”

“HDSA decided to try a different approach, which was to go directly to the Social Security Administration, to get them to understand the unique needs of this particular disease,” she added. “We decided to focus first on JHD, because it seemed like a more uniform group/set of circumstances/life situation. We are thankful to the SSA for ‘getting it,’ and for being responsive to the needs of our families!”

HDSA and its advocates hope to use the political momentum from the CAL victory to achieve their broader goals in the area of public benefits.

“This is a very, very partial answer to a very small part of the problem,” Kogan explained. “The current (SSA) guidelines for HD don’t even include JHD.”

“We’re hoping this energizes people and that by showing up and speaking persistently, things do get done,” Kogan continued. “Just to make this (the CAL) happen, a number of people submitted their stories, when we first testified, and more recently, last summer, we surveyed the community about disability, and a number of people shared their stories.”

Jane Kogan


The HD Parity Act

A major goal, of course, is the passage of the HD Parity Act, which has numerous sponsors in both the House and the Senate but which has not been brought up for a vote. As noted above, this bill would eliminate the two-year waiting period for SSD benefits. It also would change the SSA’s woefully outdated criteria for HD, which only use chorea (tremors and dance-like movements) as a basis for disability but do not include the cognitive and behavioral symptoms. (Click here for details on the bill.)

Kogan also noted that the potential CAL for adult onset HD is “much trickier” because of the far more nuanced, slower onset in comparison with JHD. This fact further reinforces the need for the Parity Act.

As the HD community awaits passage of the bill, affected individuals may be able to qualify for Social Security benefits more easily by using a diagnosis of “mixed dementia,” Kogan noted (click here to learn more).

Kogan stressed that people should contact their representatives and senators now to push for passage of the bill. Because of the 2012 elections, politicians are in “election mode” over the next several months and want to show results for their constituents, she said. The CAL is a “newsworthy” item that advocates can promote and politicians can “latch onto,” she added.

Also, the CAL also provides the HD community with a powerful symbol for the observation of HD Awareness Month, May, now in progress.