Chief Huntington’s disease drug hunter: ‘every confidence first treatments’ in the works

Surveying the vast progress in Huntington’s disease research and a “blitz” of clinical trials now in progress, a key scientific leader in the efforts has predicted that they will produce treatments for the incurable neurological disorder.

“I have every confidence that this batch of clinical candidates that are now being tested are going to yield the first treatments for Huntington’s,” said Robert Pacifici, Ph.D., the chief scientific officer for CHDI, the multi-million-dollar non-profit virtual HD biotech.

Dr. Pacifici’s remarks came in an interview on February 24 in Palm Springs, CA, at the organization’s 11th Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc., the backer of the initiative.

Nobody can foretell the result of a clinical trial, and Dr. Pacifici did not specify a timeline for an effective treatment reaching the market. However, he offered examples of the immense progress towards developing treatments.

“It’s really frustrating for people, I know, to say, ‘That’s good news, that’s good news, but where’s the treatment, where are the drugs?’” Dr. Pacifici said. “The thing I would point to is that so many of the things we said were going to happen actually have happened. And so many of the things that have happened have actually yielded the outcome that we wanted.”

Dr. Pacifici cited three recent key advances: the ongoing research in biomarkers (signals) to measure the efficacy of potential drugs’ in reducing the harmful presence of abnormal huntingtin protein in brain cells; major progress in identifying modifier genes that delay or hasten disease onset; and the start of clinical trials.

The trials post the most “difficult” challenge in the process, he said.

“We want to make sure that we do things in a way that obviously is very careful,” he said, explaining the primacy of drug safety. “The last thing we want to do is harm anybody.”

Noting that the search for drugs has no guarantees, Dr. Pacifici nevertheless concluded that these are “exciting times” for the community of HD families, researchers, and supporters of the cause.

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


'Every confidence first Huntington's disease treatments' in the works from Gene Veritas on Vimeo.

First Ionis patients safe

Until recent years, such good news seemed like a remote possibility for HD Therapeutics Conference participants and, indeed, for the entire HD community.

Because of the growing number of HD clinical trials and therefore greater hope for effective treatments, Dr. Pacifici and fellow CHDI conference organizers launched a new feature at this year’s conference, the “Clinical Trials Update Blitz.” Representatives from four different trials presented their latest news in 15-minute presentations.

The most anticipated update focused on the historic trial by Ionis Pharmaceuticals, Inc., to attack the root cause of HD via gene-silencing.

Trial principal investigator Sarah Tabrizi, M.D., Ph.D., of University College London reported that all patients in the very first cohort in the Phase 1b/2a trial – aimed at testing primarily safety and tolerability – completed the trial without incident.

Dr. Sarah Tabrizi updating the historic Ionis gene-silencing trial (photo by Gene Veritas)

The first group of participants received the first dosing of the drug, IONIS-RTT_RX, in October 2015. They received three additional doses at 28-day intervals and were monitored by trial administrators.

“We completed Cohort A, in London and Vancouver, four subjects, and the DSMB [independent data safety monitoring review board] met and allowed us to move to cohort B,” Dr. Tabrizi said. (A DSMB, a standard in all clinical trials, halts a study if patient safety is threatened.)

Administrators of the Ionis trial are currently recruiting volunteers for Cohort B, to be followed by Cohorts C and D, as outlined in the plans for the experiment. In all, 36 patients will take part in Phase 1b/2a. If all cohorts are successful, Ionis will seek approval for a full-blown, larger Phase 2 trial to test drug efficacy.

For further background on the trial, watch Dr. Tabrizi’s update in the video below.


First Patients Safe in Ionis Trial for Huntington's Disease Treatment from Gene Veritas on Vimeo

More than a disease

Drawing a record 325 participants from academia, the pharmaceutical business, and the medical field, the conference highlighted cutting-edge HD research, including the structure and function of the huntingtin protein; the huntingtin gene and the human genome; potential gene-silencing treatments; restoration of cell health; and ways to measure clinical trial outcomes.

Although highly dedicated to HD research, many of the non-physician scientists have little if any contact with HD families. This has prompted CHDI to open each conference with a keynote by a representative of the HD community to drive home the human reality of the disease and the urgent need for treatments. (I keynoted the 2011 meeting.)

This year Astri Arnesen and Svein Olaf Olsen, a married couple who have led the HD cause in their native Norway and in the European Huntington Association, delivered a powerful keynote about HD and marital commitment, denial, genetic testing, and raising a family. They titled their presentation “HD – more than a disease!”

Astri and Svein Olaf received a standing ovation.

I will explore their story and provide an overview of the key scientific findings in a second report on the conference.

Svein Olaf Olsen (left) and Astri Arnesen (photo by Gene Veritas)

An upbeat mood

As in past years, the CHDI meeting moved me profoundly.

I identified with the many difficult feelings and experiences recounted by Astri and Svein Olaf.

Once again, the scientists’ presentations reminded me of HD’s devastation of the brain – and of my vulnerability as a carrier of the HD mutation.

But this was a very upbeat conference. I had never spoken before to Dr. Tabrizi, but we hugged as if we were old friends after I congratulated her on the initial clinical trial report. The HD community has waited so long for such news!

Later, after I worked late into the evening on this article and missed the buffet dinner, Jerry Turner, the CHDI staffer in charge of conference logistics, arranged for a care plate of sumptuous leftovers from the kitchen of the Parker hotel, the gracious host of the conference.

I toasted to the success of the Ionis clinical trial and to CHDI’s commitment to the project with Doug Macdonald, Ph.D., CHDI’s director of drug discovery and development and its point man on gene-silencing.

As I told another scientist, I look forward to the day when we can all toast the discovery of an effective treatment.

(Disclosure: I hold a symbolic amount of Ionis shares.)

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

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

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

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

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

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

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

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

Completely interdependent

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

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

We are completely interdependent.

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

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

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

It’s brought us closer together.

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

Valid and important emotions

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

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

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

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

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

Overlooked and undervalued

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

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

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

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

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

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

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

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

Preemptive caregiving

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

She has done a lot of preemptive caregiving.

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

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

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

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

Defeating Huntington’s disease starts with taking care of yourself and joining Enroll-HD

For those of us affected by Huntington’s disease or at risk for it, the fight against the disorder begins by taking care of ourselves.

This idea occurred to me during my daily morning meditation on Jan. 14, 2016, as I anticipated my annual checkup in the Enroll-HD program later that day.

Many people struggling to come to terms with HD ask: with so much to worry about, how can I contribute to the cause?

You can start simply by committing to care for your health and asking family members and others to help monitor your condition. In doing so, you will help your family, too, by preparing for and perhaps even diminishing the current or eventual caregiving burden associated with Huntington’s.

You can extend that assistance to the entire HD community by joining Enroll-HD, a worldwide registry of affected individuals, asymptomatic HD gene carriers, untested at-risk individuals, and other family members. With its growing database, Enroll-HD serves as a platform and research project aimed at facilitating clinical trials and the discovery of treatments.

The greater the participation in Enroll-HD, the faster trials can take place.

Helping the researchers

Not long after learning of my own risk for HD in 1995, I started participating in research projects based at the University of California, San Diego (UCSD), and San Diego State University (SDSU) (click here to read about one example).

In January 2015, shortly after my participation in the PREDICT-HD study ended, I registered in Enroll-HD.

At this month’s follow-up visit at the UCSD Huntington’s Disease Clinical Research Center, I once again gave blood that scientists can use in the numerous research projects facilitated by Enroll-HD. I also underwent a battery of cognitive tests.

In addition, I participated in four research projects by scientists at UCSD, SDSU, and other local institutions. Two involved standing on high-tech platforms designed to detect  balance problems in people who have brain disorders and concussions. Another involved a measure of fine motor skills, which are seriously affected in HD, by writing on a special tablet connected to a computer.

Finally, I spit into a tiny collection tube for a project involving the detection and study of the huntingtin protein in saliva. Abnormal huntingtin causes HD.

Gene Veritas (aka Kenneth P. Serbin) writing on an experimental tablet (above) and standing on a platform to detect balance problems (below) (photos by Ayesha Haque)

A neurological exam

My visit concluded with a standard neurological exam by Jody Corey-Bloom, M.D., Ph.D., the director of the UCSD clinic. Among other tasks, I had to follow her fingers with my eyes, rapidly tap together my thumb with my index and middle fingers, and walk down a straight line for about 25 feet.

To my great relief, Dr. Corey-Bloom noted no irregularities! At 56, I am now past the point at which my HD-stricken mother displayed the characteristic involuntary movements.

Afterwards, I discussed with Dr. Corey-Bloom my questions and concerns about my potential participation in the SIGNAL clinical trial to test a monoclonal antibody as an HD treatment.

I will soon provide an update on SIGNAL.

Enroll-HD’s positive impact

The next day, I obtained the latest news about Enroll-HD from Joe Giuliano, the director of clinical operations for CHDI, the multi-million-dollar nonprofit virtual biotech aimed exclusively at developing HD treatments. In collaboration with HD research centers and clinics around the globe, CHDI sponsors Enroll-HD.

Enroll-HD officially launched in July 2012. According to Giuliano, as of January 15, nearly 9,000 individuals from 14 countries and 140 sites had signed up.

Has the program met CHDI’s expectations?

“I think there’s a high level of engagement among the patient community and among the investigators around the world,” he said during a phone interview. “The recruitment has been excellent. We could have 10,000 participants by the end of March, which would be amazing. I’m really pleased with how well the availability of the dataset and the biological samples [blood] has worked out. In other words, people are using the data, and the data is available through the website. It’s a great example of making data available quickly.”

What’s been the impact?

“We’ve been actively assisting three clinical trials that have been going on – PRIDE, Amaryllis, and LEGATO – with their recruitment,” Giuliano continued. “We have released our second periodic dataset, with 4,150 participants. There are 28 projects that are currently using Enroll-HD data, to answer different research questions. We’ve been actively distributing biological samples for a variety of projects.”

As a result of Enroll-HD, scientists are deepening their understanding of the disease, and doctors are finding ways to improve care.

Enroll-HD contributes directly to the quest for treatments. The larger the number of potential clinical trial volunteers, the greater the chance that trial administrators can enlist the required number for each trial. The number of HD trials has increased each year, increasing the demand for volunteers. Without the trials and the volunteers, scientists can’t test treatments.

Joe Giuliano (left) and Gene Veritas at a 2015 CHDI conference

Challenges in Latin America

On the downside, in one key region, Latin America, Enroll-HD has progressed “very slowly,” Giuliano said. So far, Enroll-HD is only operating in Argentina and Chile.

In October 2015, the National Research Ethics Commission in Brazil – the world’s sixth largest nation, with an estimated 20,000 HD-affected individuals – rejected the proposal to set up Enroll-HD there.

“Obviously we were very disappointed,” Giuliano said. “I think the National Research Ethics Commission rejected based on some areas where there was a perception that the Enroll-HD study was not aligned well with some of Brazil’s legal precedents.”

However, Giuliano said that Enroll-HD will step up efforts to involve Latin America’s HD families. With growing interest in Colombia, that country be the next to join Enroll-HD, he said.

“We’re working harder than ever,” Giuliano affirmed. “You haven’t heard the end of us in Brazil. We’re really committed to Latin America. Many of us believe that Latin America, like in the beginning of their history of HD research in Venezuela, which played an important role – now in the later stages of HD research it’s going to resurge, reawaken, and become an important player in HD research again.”

In a future article I will explore the Brazil decision in depth as well as ways HD families can push for greater acceptance of Enroll-HD there and in other countries of the region.

Building a common cause

As I approach the inevitable onset of HD and feel many of the other effects of normal aging, I realize more than ever the need to stay in shape via a healthy diet, daily stretching and aerobics, meditation and spirituality, and psychotherapy.

Without health, I cannot work, dedicate myself to my family, or advocate for the HD cause.

Caregivers, the "HD warriors" who enter the trenches each day, must also seek opportunities for respite.

With the significant progress towards HD treatments of recent years and growing awareness of the importance of HD and other neurological disorders, advocates have a busier agenda than ever.

I am thrilled to assist HD research and the implementation of the critical clinical trials by taking part in Enroll-HD.

After following the HD movement in Brazil for two decades and participating in the historic sixth World Congress on Huntington’s Disease there in September 2013, I aim to join my Brazilian HD brothers and sisters to advocate for reconsideration of the government’s rejection of Enroll-HD.

We must not lose the momentum in Brazil and Latin America!

Only by building this common cause can we ultimately defeat HD.

After a Social Security setback, HDSA steps up advocacy on Huntington’s disability criteria

The Huntington’s Disease Society of America (HDSA) is calling on the HD community and its supporters to urge the Social Security Administration (SSA) to update and expand its listing (description) of the disorder so that patients suffering from all types of symptoms can qualify for disability benefits.

Listings are medical criteria for evaluating disability claims involving diseases and disorders as determined in the Social Security Act. Written decades ago, the current SSA listing for HD mentions only the motor symptoms, the involuntary movements caused by the deterioration of the brain. However, HD also produces cognitive decline and psychiatric and behavioral issues, which usually leave patients disabled. Both of these symptom types often occur before the motor symptoms.

In the past decade, HDSA worked for the introduction of a bill in Congress, the Huntington’s Disease Parity Act, to change the HD listing and eliminate the two-year waiting period for benefits. HDSA has also directly lobbied the SSA.

Initially, the SSA responded favorably. It took a big step in April 2012 by listing juvenile onset HD as eligible for a Compassionate Allowance, thus quickening the approval of applications for benefits, which can take many months and even years and sometimes require applicants to resort to an arduous appeals process. Later that year, adult onset HD also became eligible for the allowance. (Click here to read more about Compassionate Allowance, HD, and Social Security benefits.)

However, when the SSA on February 25 released its draft of updated neurological listings – the first such revision in more than 30 years – the description for HD remained woefully inadequate.

A ‘glaring omission’

“We were certainly disappointed when the listings … made no practical advancements in the ability of their (SSA) examiners to have a true picture of the clinical manifestation of Huntington’s,” said HDSA CEO Louise Vetter in an interview today. “They continue to depend on the motor symptoms. There is a large body of knowledge obviously that gives the cognitive and behavioral symptoms equal importance in the progression of the disease.”

HDSA CEO Louise Vetter (photo by Gene Veritas)

On March 27, HDSA issued an analysis of the SSA HD listing that it posted on its website (click here to read more).

“Based upon HDSA’s analysis, this listing leaves many of the same gaps unaddressed and is worse than the listing we have now,” the society states. The proposed listing puts even more emphasis on the motor symptoms. (To obtain benefits, patients must be examined by at least one doctors and provide any medical documentation requested by SSA.)

The HDSA analysis found an “inconsistency between the listings (that do not mention any non-motor symptoms) and the preamble, which states that: ‘When these disorders result in solely cognitive and other mental function effects, we evaluate the disorder under 12.02/112.02 (for juvenile).’” The number twelve refers to the mental health listings, where general issues with neurological disorders such as HD are also described.

HDSA argues that “unless these other sections are spelled out in the listing itself, the examiner (and even a medical professional who is unfamiliar with HD) won’t know that they should look at the preamble because the person with HD appears fine in person and often lacks the insight to describe symptoms.”

The “glaring omission” of non-motor symptoms in the SSA listing “will cause individuals disabled by non-physical symptoms to be denied,” the HDSA analysis concludes.

One advocate told me privately that the SSA and HD specialists “don’t always speak the same language.” For instance, what HD specialists describe clinically as “apathy,” a hallmark symptom of HD, must be found in the SSA criteria under “anhedonia.”

Educating the bureaucracy

As of this writing, the SSA point person had not responded to my phone message requesting comment on the HD listing. Cheryl Williams of the SSA Office of Medical Listings Improvement is indicated as a contact person in the Federal Register, where the SSA published the proposed neurological listings.

Vetter offered “two plausible explanations” for the inconsistency in the neurological listing.

First, the SSA is “struggling with a change in leadership” after Commissioner Michael Astrue finished a six-year term, retiring in February 2013. Astrue had approved the Compassionate Allowances and even appeared in a video made specially for the 2012 HDSA national convention. Since Astrue’s departure, SSA has operated under an acting commissioner, Carolyn Colvin. Thus, “new staff” received the task of revising the neurological listings, Vetter observed.

Second, Vetter noted the complexity and length of a document covering numerous neurological conditions.

“I recognize that it’s a tall order to conveniently define HD,” she said. “This is a bureaucracy looking for simple definitions, and HD is not easily characterized in convenient language. From that perspective, they’re trying to simplify a complex disease. That is inevitably going to lead to some gaps, and we’re calling them out on that.”

Pressing for a meeting

Vetter added that, at some level, the SSA doesn’t sufficiently understand HD. HDSA is seeking “direct dialogue” with the SSA, but so far the SSA has refused to meet.

Vetter speculated that, if the SSA meets with HD community representatives, it fears “the slippery slope” of having to meet with all disease groups.

HDSA, Vetter said, must convince the SSA of the uniqueness and complexity of HD and therefore the need for more “guidance” for the medical examiners who determine whether HD patients receive disability benefits.

“We should be granted an exception,” she declared. “We won’t take no for an answer on this one.”

How to send a message to Social Security

HDSA CEO Louise Vetter has formally submitted the HDSA analysis as a comment for SSA consideration, as have several dozen other HD advocates and family members.

Vetter urged HD advocates, family members, and supporters to also submit comments to the SSA. You can view others’ comments and add your own by clicking here. Your can simply state that you support the HDSA's input on the Huntington's listing, or you can leave a personalized comment of greater length.

The deadline for comments is April 28.

Removing barriers to understanding HD

Advocacy on this issue forms part of a larger effort by HDSA and the HD community in favor of the Huntington’s Disease Parity Act of 2013, a bill that would direct the SSA to update and expand its HD listing and waive the two-year waiting period for HD patients to receive Medicare benefits.

The current setback is “not a reflection on the HD community’s momentum at all,” Vetter said. “I know that we still have many strong advocates in the SSA. They are trying to find a way to accommodate HD in a complex process. Hopefully they’ll be able to accomplish that quickly. I don’t think we should be disheartened.”

Little by little, HD advocates are “removing barriers” to understanding of the disease, she added.

To learn more about how you can assist with HD advocacy, contact the nearest chapter of HDSA or write advocacy Jane Kogan, HDSA’s manager of education and advocacy, at jkogan@hdsa.org.

It’s playoff time – and a reminder that brain health comes first

During the winter holidays, many Americans celebrate our culture of competition by watching football – from state high school championships to college bowl games to the National Football League (NFL) series culminating in the Super Bowl.

However, recent news regarding head injuries has spurred the greatest concerns about player safety in the recent history of the game.

As I wrote last January on the eve of the 2013 Super Bowl, “the negative consequences of football on the brain have come under intense scrutiny.”

I noted that Junior Seau, the former San Diego Charger who had committed suicide in 2012, suffered from CTE (chronic traumatic encephalopathy), a brain disease produced by trauma to the head. According to Seau’s relatives, his behavior included depression, wild mood swings, forgetfulness, irrationality, and insomnia – symptoms noted in other players who have sustained brain injuries.

These symptoms are very similar to those seen in neurological disorders such as Alzheimer’s, Parkinson’s, Lou Gehrig’s, and Huntington’s disease, which claimed my mother’s life.

I carry the mutated gene that causes HD but have so far escaped its inevitable, terrible symptoms.

Today I turn 54, an age at which my mother had already begun a steep decline. Birthdays always make me introspective and retrospective, and as I draw to a close an especially intense year in HD advocacy, professional work, and family life, I feel a special need to reflect on my concerns about HD and CTE while waxing nostalgic and a bit autobiographical.

CTE, the NFL, and a ‘public health crisis’

In August, one week before the start of the NFL season, the league settled a lawsuit brought by some 6,000 former players and families who accused the league of hiding the connection between football and concussions. The NFL agreed to pay the players $765 million and was expected to pay an additional $200 million in legal fees.

However, the settlement did not require the NFL to admit any wrongdoing, nor did it state any conclusions about football and brain injuries.

With a dispute emerging over legal fees, the federal judge overseeing the case has yet to approve the settlement.  New lawsuits filed since the settlement have increased the likelihood that the concussion issue will enter a courtroom (click here to read more).

In August, ESPN (Entertainment and Sports Programming Network) abruptly ended its relationship with the PBS (Public Broadcasting System) documentary program Frontline, reportedly because of pressure from the NFL regarding an upcoming documentary.

Nevertheless, in collaboration with two ESPN-based investigative journalists, Frontline in October aired a two-hour report titled “League of Denial,” revealing the NFL’s attempts to hide the seriousness of brain injuries from the players and the public even as physicians studying concussions found CTE in the autopsied brains of dozens of deceased players.

In early November, it was reported that several former NFL players were diagnosed with CTE. They were the first living players to undergo a new kind of brain scan capable of detecting signs of CTE.

Days later, two former college football players filed a federal lawsuit against the National Collegiate Athletic Association (NCAA), claiming it failed to inform players about the risks of concussions and demanding medical monitoring for former players.

Meanwhile, news organizations reported that Pop Warner, the nation’s largest youth football program, registered a nearly ten percent drop in participation between 2010 and 2012. That suggesets the general public had taken strong note of the dangers of football.

“There has never been anything like it in the history of modern sports: a public health crisis that emerged from the playing fields of our 21st-century pastime,” wrote the ESPN journalists, Mark Fainauru-Wada and Steve Fainuru, in an excerpt from their book League of Denial: The NFL, Concussions, and the Battle for Truth. “A small group of research scientists put football under a microscope – literally…. What the researchers were saying was that the essence of football – the unavoidable head banging that occurs on every play, like a woodpecker jackhammering at a tree – can unleash a cascading series of neurological events that in the end strangles your brain, leaving you unrecognizable.”

Common problems and goals

I am struck by the similarities between HD and what scientists, physicians, and former players have described as the symptoms of CTE. HD effaced my mother’s ability to speak and interact with others, leaving her a mere shadow of herself.

I fear the same fate.

As an HD advocate, I believe the neurological disease communities, as well as victims of stroke and traumatic brain injuries from military combat or other situations, should support the efforts to research the causes and symptoms of CTE and support those afflicted by it. Research on these various conditions is mutually beneficial. We’re all part of a larger quest for improved brain health.

Like HD, CTE involves our most important natural resource: our brains. The brain controls all that we do. It makes us individuals and provides us with enormous capacities.

Conditions such as HD and CTE can put a huge emotional, medical, and financial burden on families and caregivers. We need to find ways to prevent, treat, or cure these conditions as quickly as possible.

Advocacy in the workplace

In November, I brought my advocacy into the workplace.

When the University of San Diego (USD), where I chair the history department, announced its voluntary withdrawal from postseason football competition while it investigates a potential violation of rules regarding financial aid and athletic recruitment, I urged the administration to also conduct a review of player safety in light of the revelations about CTE.

My e-mail message led to a constructive dialogue with the athletic director, the NCAA faculty representative, and others to seek ways in which USD, fulfilling its mission of education and social justice, can inform the campus and the local community on the issue of CTE and brain health.

I hope to report progress on these efforts in the coming months.

The larger implications of sports

I have long cultivated an interest in the social, historical, and health-related implications of sports.

During my freshman year at Yale University, I helped support myself by working ten hours per week as an assistant public relations person in the university’s sports information office. I also reported and wrote columns for the Yale Daily News. One of my articles described my experience as one of the first – if not the ­first – male reporters to enter a female locker room.

In another article, a quotation from Yale’s athletic trainer, Al Battipaglia, summed up my own current philosophy about student athletics: “Vince Lombardi said winning is the only thing. Al Battipaglia recites the athletic trainer’s prayer: ‘It’s not if we win or lose, but if nobody gets hurt.’”

At the time, Yale had an extremely cautious, automatic ten-day suspension for any athlete with a head injury.

At Yale I also had the privilege of studying in a seminar on the “American sports syndrome” directed by ABC Sports broadcaster Howard Cosell, one of the most trenchant sports commentators of the 20^th century. Cosell taught us about the contradictions and hypocrisy involved in the world of sports.

Brazil, soccer, and the ‘opiate of the people’

Later, I had far less time to follow American sports as I pursued a career as historian of Brazil, with a specialization in the history of the Brazilian Catholic Church, dictatorship, human rights, and reproductive issues. Throughout much of the 1980s and 1990s, I paid more attention to soccer.

Serious injuries occur in soccer, and fan devotion and violence make our Super Bowl craze seem mild in comparison.

In the past, some political leaders have used soccer as an “opiate of the people” to manipulate the masses. This year millions of Brazilians protested in the streets against their leaders, in part because they were angry over the billions of dollars in government spending on stadia for the 2014 World Cup while public transportation and the health and educational systems remain substandard for much of the populace.

Nevertheless, in terms of the sport itself, I consider soccer as a more graceful and civilized activity when compared to the brutality of football.

Uneasy about football

Starting in the early 2000s, HD rekindled my interest in pro football, thanks to the Chargers’ commitment to the Huntington’s cause.

However, as I’ve reflected on the devastation that disease and trauma can cause in the brain, I’ve become increasingly uneasy about watching football games.

The Frontline documentary “changed forever how I will watch a professional football game – if, indeed, I can bring myself to do so again,” I wrote in my USD e-mail message.

Tracking CTE

My HD advocacy has led me to expand into the history of science, technology, and medicine. Now, with my added concern about athletes and CTE, I will add yet another layer to my advocacy, using my skills as a historian and former journalist.

I aim to track significant news reports about CTE. (Frontline has set up a “concussion watch” of officially reported NFL head injuries. So far this year it has registered 146 incidents.)

I will also monitor the continuing debate about whether football head injuries cause the condition. One worthwhile, in-depth debate about “League of Denial” took place in a published e-mail exchange between journalist Daniel Engber of Slate and author Stefan Fatsis (click here to read more).

Science and risks of CTE

As I’ve learned so well from the Huntington’s movement, effective advocacy requires understanding scientific research. Therefore, I also aim to track the science of CTE.

A number of reports and academic articles on CTE have appeared in the last few years.

The National Institute for Neurological Disorders and Stroke, a division of the National Institutes of Health (NIH), issued a brief report on its December 2012 workshop on the neuropathology of CTE. The report raised more questions than it answered, demonstrating the infancy of research on CTE and outlining a plan for sustained, coordinated research on the condition.

(In August 2013 the NFL donated $30 million to the NIH for research on CTE and other medical conditions affecting athletes.)

Other articles have warned of the potential risks of sustaining brain injuries in contact sports.

“Symptoms of CTE may begin years or decades (after one or multiple concussions) and include a progressive decline of memory, as well as depression, poor impulse control, suicidal behavior, and, eventually, dementia similar to Alzheimer’s disease,” one article states. “Given the millions of athletes participating in contact sports that involve repetitive brain trauma, CTE represents an important public health issue.… It is now known that those instances of mild concussion or ‘dings’ that we may have previously not noticed could very well be causing progressive neurodegenerative damage to a player’s brain.”

Another article outlined the history of traumatic brain injury (TBI) and its relationship to neurological decline, including cases of CTE. “The best data indicate that moderate and severe TBIs increase risk of dementia between 2-and 4-fold,” the authors concluded. “It is less clear whether mild TBIs such as brief concussions result in increased dementia risk, in part because mild head injuries are often not well documented and retrospective studies have recall bias.”

Autopsies of six Canadian Football League players with histories of concussions and neurological problems showed that three had CTE, while the others had Alzheimer’s, Parkinson’s, and Lou Gehrig’s.

Skeptics, the media, and future goals

Some scientists have expressed skepticism about the research on CTE so far.

The latest and most prominent example appeared in a special issue of Neuropsychology Review, published in November and consisting of six articles by a “distinguished panel” of scientists and also an editorial, all on the topic of sports-related concussions.

“One cannot deny that boxing and other contact sports can potentially result in some type of injury to the brain,” the two authors of one article conclude. “There currently are no carefully controlled data, however, to indicate a definitive association between sport-related concussion and increased risk for late-life cognitive and neuropsychiatric impairment of any form.”

While agreeing that CTE is an “important public health concern,” the journal’s editorial highlights the problem of the divide “between media and evidence-based accounts of sports concussion.”

While the Frontline documentary took a positive step in informing the public, it also illustrated a stark societal imbalance.

As the documentary contrasted a scene showing thousands of journalists attending an official 2013 Super Bowl pre-game media event with the handful of reporters who covered a press conference where scientists presented evidence on CTE, it’s painfully evident that sports coverage remains largely an act of cheerleading rather than skeptical journalism.

Further, sports sections of daily newspapers routinely give footnote status to most news about athletes’ injuries. Such coverage focuses on the injury as a factor in a team’s success and rarely in terms of the athlete’s long-term health.

Although the scientific articles referenced here (as well as others) differ in perspective and conclusions, one fact is clear: more research is needed, because the number of case studies of CTE still remains quite small.

A playoff party and nagging concerns

I must admit that, even after keeping the TV and radio off most of this NFL season, I listened with excitement to last Sunday’s radio broadcast of the Chargers’ overtime victory, which, against enormous odds, secured the team a spot in the postseason quest for the Super Bowl.

My family and I are planning a Chargers playoff brunch and mini-party for next Sunday morning, when the team plays in the first round against the Bengals in Cincinnati. We’re inviting friends who, like us, know the devastation of Huntington’s disease – and the Chargers’ many contributions to the HD cause.

I’m sure we’ll all root for the Chargers.

However, we’ll also be crossing our fingers that nobody suffers a concussion or any other serious injury.

Personally, I’m torn between participating in a cultural ritual and standing up for my position as an advocate for brain health.

It’s playoff time – but also time to think of how we can all make the world a better and healthier place in the New Year.

For me, that includes resuming my role as an advocate for brain health and, with the rest of the neurological and genetic disease communities, imagining a world in which CTE, HD, and other similar disorders can be fully treated and, even better, prevented.