Riding the advocacy revolution: stem cell activists, the future of CIRM, and public awareness

If the promise of stem cells to treat a myriad of diseases – a potential outlined in my first of two reports on the sixth World Stem Cell Summit – is to be fulfilled, advocates and patient organizations must exercise effort and expertise in helping steer the research.

Starting with AIDS-related patient advocacy, a “revolution” has occurred over the past two decades in how patients have related to their doctors and the pharmaceutical industry, said Kevin McCormack, the senior director of Public Communications and Patient Advocate Outreach for the California Institute for Regenerative Medicine (CIRM). CIRM was one of the leading co-sponsors of the summit, held last month in San Diego.

“This is a really exciting time and really interesting time in medicine,” McCormack said, introducing a panel on patient advocacy and stem cell research on December 5. “There’s a lot of change going on. Part of it is due to all the advances that have been taking place, all the progress that is being made in many different fields, but obviously in stem cells in particular. That’s why we’re here.

“There’s also a change in the way we’re engaged. In the past it was a very paternalistic system, for want of a better word, where you went to the doctor, and the doctor said, ‘This is what you have,’ and then the doctor said, ‘This is how we’re going to treat you.’”

Now, said McCormack, that has changed. “Patients and patient advocates are really demanding more of a role, more of a voice, beginning with HIV-AIDS, where people just didn’t want to wait around ... to get the therapies,” he said. “And so they pushed and advocated and demanded in every part of the decision-making process.”

Beyond the key issue of Huntington’s disease advocacy, this article also addresses the future of the world-leading, public-bond-supported CIRM and the need for greater public education about the stem cell field, including safety concerns.

Show up, get involved

Judy Roberson, RN, one of California’s leading HD activists, led off the above-mentioned panel with a simple but crucial tenet of advocacy: “Show up for things. Show up for meetings like this. Join support groups and national organizations…. When you get involved, opportunities come your way.”

Such opportunities become available because major “decision-makers” usually attend scientific meetings such as the Huntington’s Study Group conference she keynoted in 2009, Roberson pointed out.

As a result, Roberson, then the president of the Northern California Chapter of the Huntington’s Disease Society of America (HDSA) and head of the Joseph P. Roberson Foundation (founded by and named for her HD-stricken brother-in-law), was invited by the Food and Drug Administration (FDA) to become an FDA HD advocate. The FDA oversees clinical trials for drugs and approves treatments. Roberson’s husband Tim died of HD at the age of 51.

“You’ll never get anything unless you ask for it,” Roberson continued, recounting how in the early 1990s she approached her neighbor, California State Senator Mike Thompson, to seek support for Huntington’s programs. Thompson, who headed the legislature’s powerful budget committee, helped allocate $1 million for HD programs over a period of five years. Thompson now serves in the U.S. Congress.

More recently, Roberson and other California HD advocates worked to help Drs. Vicki Wheelock and Jan Nolta of the University of California, Davis, secure a $19 million grant to conduct research towards a stem cell trial for HD, as mentioned in my previous article on the summit and detailed in a 2012 article.

You can watch the Stem Cell Summit advocacy panel, including Roberson’s speech, in the video below.

How Patients and Patient Organizations Are Impacting Advances in Stem Cell Research and Regenerative Medicine from Gene Veritas on Vimeo.

An eye-opening experience

For Katie Jackson, also of Sacramento and the vice president for Help4HD-International, a newly emerging patient and family support organization, the summit opened up a new world. Jackson’s husband was diagnosed with HD in 2006. The couple has two untested children with a 50-50 chance of inheriting the HD mutation.

“This summit has been so eye-opening and so amazing,” Jackson told me in an interview on December 5. “I thank the California Institute for Regenerative Medicine for sending me here….  From the second you wake up in the morning till the second you go to bed, you’re amongst these innovator-researchers that are just changing the world.”

Jackson said she was excited to be “part of the medicine that’s today, and that is regenerative medicine…. People are starting to understand that this is important stuff.”

The Stem Cell Summit left Jackson with a feeling of great hope, she said.

“There are a lot of people that are working hard to find therapies and possibly the cure,” she said. “Hopefully this is the last generation of Huntington’s disease.”

You can watch the entirety of our interview in the video below.

Huntington' Disease Advocate Katie Jackson at the World Stem Cell Summit: An Interview with Gene Veritas from Gene Veritas on Vimeo.

The center of the stem cell universe

As stated by outgoing CIRM President Dr. Alan Trounson in his keynote speech on December 4, numerous CIRM-supported projects are putting the drive towards stem cell treatments into “high gear.”

According to Jonathan Thomas, the chair of the Independent Citizens’ Oversight Committee (ICOC), CIRM’s governing board, the agency is currently funding research regarding 40 incurable diseases and conditions. That research is part of projects funded at 70 different California universities, research institutions, and biotech companies.

Critically, these efforts aim to get potential therapies into human clinical trials, the final, crucial step before the FDA can approve a drug.

CIRM, approved in a 2004 statewide vote on Proposition 71, has so far spent $1.85 billion of its mandated $3 billion budget, funded by state-issued bonds.

California was already “loaded” with research talent, Thomas observed in a CIRM public forum on December 3, “but the fact that CIRM is here has enabled the state to attract senior stem cell scientists from all over the world just to have the opportunity to get funded for their work.”

Thanks to CIRM, California has become “the center of the stem cell universe” and the “envy of the rest of the world because of what the voters have enabled us to do,” Thomas continued.

“No other state has been able to duplicate this,” he said. “There are smaller efforts that are funded either by annual appropriations by state legislatures or largely funded through philanthropic gifts or whatever. No place has the bonding authority we do.”

Keeping the research pipeline open

CIRM will fund its final round of projects by 2017. Actual administration of the grants will extend to about 2021, McCormack said.

“But obviously the key question here is: what about funding the research that’s already in the pipeline, about the kind of exciting progress that we’ve made that we don’t want to see wither and die, because if we go away, who’s going to fund it?” he said.

McCormack explained that continued support for the early and middle stages of a project enables the researchers to avoid the so-called “valley of death” – a lack of funds preventing the scientists from approaching large drug companies to promote the idea of the large, expensive, and sometimes lengthy Phase III clinical trials, the final stage before FDA approval.

“We’re looking at a number of different ways of getting new money – private funding, philanthropy, a number of different choices that we’ll be exploring,” McCormack said. “We’re not ready to go public yet with some of the things we’re looking at, but hopefully we’ll be able to find some way of continuing this research.”

“I hope with all my heart that we can go for a part 2 of Proposition 71,” said panel member Don Reed, a leader in the 2004 effort, who became active in the cause because of his son Roman’s paralysis resulting from a college football accident in 1994. “It’s going to be the greatest stem cell battle in the history of the world, and if we win, there’s just going to be unbelievable stuff that will happen…. Support it. Send letters to the editor. Fight every we you can.”

Roberson noted that Prop 71 originator Bob Klein’s comments at the Stem Cell Summit included plans for an “advocate boot camp” in support of CIRM. Klein served as the first chair of the ICOC from 2004-2011.

Panel member Alex Richmond, an advocate for treatment of children’s neurological disorders and the executive director of Children’s Neurobiological Solutions, observed that, as a public agency, CIRM cannot advocate for its own existence. “So it puts more pressure on organizations like ours and individuals like you, individual scientists that are out there, to be really as good an advocate as they can,” he said.

Public education critical

Researchers speaking at the CIRM public forum and presenting projects at the Stem Cell Summit both emphasized the need for greater public understanding of stem cell science.

In addition to reports on specific diseases such as Parkinson’s, AIDS, and cancer, the public forum provided easily understandable introductions to stem cell basics, focusing on such themes as adult stem cells, pluripotent stem cells (which can become any kind of cell type), and cell replacement therapy.

You can watch videos of all the public forum presentations, as well as a number of other panels and presentations of the summit, by visiting my 2013 World Stem Cell Summit video album, to which I've just added twelve more presentations.

To promote stem cell education, two researchers presented a poster titled “Developing an Easy-to-Understand Booklet for the General Public to Discuss Issues in Stem Cell Research.” Authored by Keiko Sato, Ph.D., and researcher Mie Samura of Kyoto University, Japan, the project seeks to correct misinformation and misunderstanding about the field.

“Misleading information released by the media is a routine problem for stem cell research stakeholders,” they stated on their poster, which refers to Japan but can be applied to the U.S. and other cultures. They cited the examples of embryonic stem cells, reported in some media outlets as being “created by destroying fertilized eggs intended to become babies.”

The book will appear in Japanese and also online in English.

Dr. Keiko Sato (right) and researcher Mie Samura at their poster about stem cell education (photo by Gene Veritas)

Their poster also warned about the “hype” surrounding unproven stem cell treatments, sometimes leading to “unexpected side effects” in patients who try them.

“Thus, the current situation has the potential to undermine the relations of mutual trust between researchers and the general public about stem cell research,” the authors wrote.

The poster “Stem Cell Clinics and the Internet,” by Dr. Ruairi Connolly and two collaborators from the National University of Ireland, further underscored the dangers of unproven treatments offered by online clinics.

“Despite a lack of appropriate accreditation, (such) clinics report major clinical improvements and the curative potential of treatment,” they wrote. “The provision of stem cell therapies in such an unregulated online environment is jeopardising the development of this nascent branch of medicine and offers a substantial risk to both the health of patients availing of these treatments and to the credibility of long term research in this domain.”

Dr. Ruairi Connolly with poster about unaccredited, online stem cell clinics (photo by Gene Veritas)

(Disclaimer: I received a stem cell summit scholarship from CIRM, which covered the cost of registration. CIRM officials did not in any way influence or control what I have written here.)

Game-changers in the fight against disease: a report from the World Stem Cell Summit

With a growing array of possibilities, stem cell treatments for diseases and other medical conditions hold the potential for a new era in human health.

That upbeat message – including a report on Huntington’s disease research – dominated the 2013 World Stem Summit, held in my home city of San Diego last December 4-6. I attended the sixth annual summit as an advocate for the Huntington’s Disease Society of America (HDSA).

“Over the next 20 years we need the brightest young minds using all the platforms of technology to drive creativity for solutions to defeat the problems of disease using stem cells,” said Alan Trounson, Ph.D., the outgoing president of the California Institute for Regenerative Medicine (CIRM), during his keynote address. “If we do that, I’m sure we’re going to be successful.” CIRM, a state-run research funding agency, is spending a voter-approved $3 billion by 2017 to explore stem-cell treatments for various diseases.

“All of us nationally and internationally involved in stem cell research firmly believe that some of these things will work out,” Jonathan Thomas, Ph.D., J.D., the chair of the CIRM oversight board, said at a CIRM public forum. “The great thing about this field is everything’s a game changer. So whatever any of these terrific scientists are able to get through to fruition will literally change the world when it comes to that particular disease or condition. Therein lies the promise of stem cell research.”

You can watch the Trounson and Thomas speeches, as well as other presentations, in my stem cell summit album by clicking here.

‘Cell sheets’ for eyes and hearts

From AIDS to cancer to urinary incontinence, researchers presented exciting advances in stem cell research and the efforts to improve people’s health.

In one of the most striking presentations, Teruo Okano, Ph.D., of Tokyo Women’s Medical University, demonstrated his “cell harvesting” technique to create “cell sheets” of particular kinds of tissue. He has transplanted these sheets onto diseased eyes, cancerous esophageal tissue, and damaged heart muscle.

The small number of patients receiving these experimental treatments has shown dramatic improvement.

Dr. Okano’s team is seeking to employ cell sheets in the treatment of conditions affecting the gums, lungs, liver, pancreas, cartilage, and the middle ear. They are currently seeking to develop a cell sheet-based tissue and organ factory to automate and standardize cell sheet production, aiming to minimize human error and expand the availability of these treatments.

You can watch Dr. Okano’s presentation in the video below.

A Cell Harvesting Method: A Presentation by Dr. Teruo Okano at the 2013 World Stem Cell Summit from Gene Veritas on Vimeo.

Safe cells for an HD trial

On the same panel, Jan Nolta, Ph.D., the director of the Stem Cell Program and Institute for Regenerative Cures at the University of California, Davis, provided an overview of her lab’s work with mesenchymal stem cells (MSCs), which scientists primarily derive from the bone marrow.

“I’ve been working with these cells and have a love affair with them for over 25 years,” Dr. Nolta said. “What we do with them is to genetically engineer them…. They are in clinical trials. They are safe. And they have some really cool properties.”

The MSCs' abilities include restoring blood flow, preventing cell death, reducing inflammation, and keeping the immune system at bay during tissue remodeling (natural repair of tissue), Dr. Nolta explained. MSCs have been used with “statistically significant success” in clinical trials involving heart disease, orthopedics and spine fusion, cartilage repair, autoimmune diseases, Crohn’s disease, stroke, and arthritis, she added.

Dr. Nolta also provided an update on her lab’s projected clinical trial of MSCs to combat Huntington’s disease by using the cells to deliver a key growth factor, BDNF (brain-derived neurotrophic factor), to brain cells. In July 2012, CIRM granted her lab $19 million to support the project. (Click here to read more.

“We’ve just started the lead-in clinical trial,” Dr. Nolta told the summit audience. “We’ll observe patients for a year, before they would get the cell therapy. We’re recruiting patients at that trial now.”

You can watch Dr. Nolta’s presentation in the video below.

Mesenchymal Stem/Stromal Cell Therapies: A Presentation by Dr. Jan Nolta at the 2013 World Stem Cell Summit from Gene Veritas on Vimeo.

Becoming part of the fabric

Further confirmation of advances in the stem cell field came in the release of a report, Stem Cell Research: Trends and Perspectives on the Evolving International Landscape, which revealed that stem cell research is growing at more than twice the world average for research in general (7% versus 2.9%). The report further noted that about half of stem cell papers refer to “drug development” or “regenerative medicine,” further evidence of the field’s promise for developing treatments.

In the summit’s exhibit hall, scores of scientific posters demonstrated progress on numerous fronts, and displays by stem cell related companies, flanked by expert salespersons, showed how much stem cells are becoming part of the fabric of business.

At the booth for BioSpherix, sales representative Ray Gould explained to me how his company’s product Xvivo System, a small, modular GMP (good manufacturing practices) setup, provides an alternative (for a fraction of the cost) to the large, multi-million-dollar facilities put up by organizations for stem cell and other kinds of research.

Ray Gould of BioSpherix explains the use of the company's modular GMP system (photo by Gene Veritas).

Fulfilling the promise, understanding the odds

For me, even though I carry the deadly HD gene, the glow of hope from the summit has not worn off.

After the conference, as requested, I started receiving e-mails from the Genetics Policy Institute, which, along with CIRM, was one of the event’s six major sponsors. The messages update the latest developments in stem cell research.

Of the many items, two in particular struck me: a project by the Mayo Clinic to grow stem cells at the International Space Station as a pathway to treatments for stroke and the use of inkjet printing technology to print eye cells to potentially treat retinal disease and help cure blindness.

Although a number of news reports echoed the optimism of the summit (click here for one example), at least one carried the reminder that many attempts at developing stem cell treatments have failed.

Such failures are not surprising. In general, 90 percent of all clinical trials fail to produce a treatment. By their very nature, science and drug discover involve a long process of trial and error.

Stem cells capture our imagination because they come from our bodies. In this respect they differ from typical pharmaceutical agents such as vaccines and medicines, which involve introducing non-human agents into the body (such as dead viruses or chemicals). In addition, as the work of Dr. Nolta and others has demonstrated, stem cell research gives us a greater understanding of the function of the human body.

Stem cells comprise just one part of the toolkit for treating diseases. Despite the likelihood of a high failure rate in clinical trials, having them in the kit along with gene therapy and numerous other approaches increases the overall chances of discovering effective treatments, including Huntington's disease and other currently untreatable neurological disorders.

Next time: the stem cell summit, advocacy, and the future of CIRM.

(Disclaimer: I received a stem cell summit scholarship from CIRM, which covered the cost of registration. CIRM officials did not in any way influence or control what I have written here.)

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.

Creating a Christmas memory for a Huntington’s family

As he slowly succumbs to Huntington’s disease, Dan Boyle of Bakersfield, CA, is building a legacy for his five-year-old at-risk son Colby to remember when the symptoms make impossible his greatest professional love: conducting music.

On the evening of December 19, with his musically inclined wife Audrey and Colby present, Dan, 45, will lead the Poway High School Band in a performance of “Russian Christmas Music,” the piece that inspired him to pursue a musical career when he played trumpet in the band in the mid-1980s.

“Every aspect of music is cool,” Dan said as we sat outside the Poway High band room this morning after he conducted a half-hour rehearsal of the song along with 175 band members. “I just want him to see this particular aspect. He can already pick up my trumpet and make a sound. He’s been to all our performances. The more avenues he can see, the better.”

A tradition more than three decades old, the annual Poway High Winter Band Concert involves band alumni in the performance. This year, because of Dan’s popularity and his struggle against HD, alumni from around the country and as far off as Japan will visit and play their instruments under his direction.

“He’s the last person in the world that deserves this, although we knew there was a possibility,” said Ron Schei, a childhood friend who lives near Toyko, referring to Dan’s diagnosis and his family’s history of HD. “It’s just a horrible, horrible thing.

“It’s a beautiful event. It’ll be important for Dan and for us. And if it leads to more awareness – most people don’t know about Huntington’s – and brings in some donations for the cure, it’ll have a positive effect.”

“They want to share that experience with him,” Sylvester Sybilski, the assistant band director, said of Dan’s friends. “That’s what I think is touching everyone’s heart: how he’s trying to create these moments for his son and videotape them so that eventually, when the disease gets the best of him, his son will have a record of all these events he’s going to be doing for the next five, ten years.”

Christmas this year has a special meaning for Dan. “Seeing how many friends are coming, it really makes you feel good,” he said.

Ron Schei (left) with friends Colby and Dan Boyle at Poway High School (photo by Gene Veritas)

The first symptoms

Over the years, Dan had garnered recognition for his musical talent and leadership. A native of Rancho Bernardo, CA, he was part of a world champion drum corps team at the University of California, Los Angeles, where he and Audrey met while both receiving degrees in music education. In Bakersfield, CA, where the couple worked as music educators, he was teacher of the year at Highland High School, and in Kern County he was named jazz educator of the year, orchestra educator of the year, and band director of the year.

However, Dan’s fate would include an encounter with HD. His mother, aunt, and grandmother all died of HD. He first noticed symptoms in himself in 2009 and received an official diagnosis in 2010.

After more than a decade of employment, he was no longer able to work. He receives a public school teacher’s pension and Social Security disability, while Audrey, 40, continues to work as a junior high school music instructor and band director.

In a typical progression of HD symptoms, Dan said that he can no longer multi-task, and his short-term memory is bad.

“Packing yesterday, there were three different times when I went to get the same item,” he said with a bit of a chuckle. “In the big realm of things, I would rather have short-term than long-term memory loss. Long-term is your real memories. Short-term is convenience.”

Fear of falling

HD is also affecting him physically. He has a still mild version of the involuntary movements experienced by most HD patients. His eyes move irregularly or sometimes seem to stare into space, and his face freezes up. He also has some difficulty in speaking.

“I used to hike and ski,” Dan said. “I was never very fast, but I hiked the Grand Canyon rim to rim back in 2005.

“I just started to feel weaker. I hadn’t gone skiing since Colby was born, and last winter we went. Before I was diagnosed, I could do the intermediate slopes. (This time) I was on the easiest slope there was, and I fell like ten times.”

He adds, chuckling, “I have no sense of balance! I think I know when to say when.”

Falling presents the biggest threat to Dan’s health. He recently needed to receive staples for a gash he suffered on his head. During our conversation, he turned his head to show me a very large, red bump on the back of his head from another fall just yesterday.

He plans to start using a motorized wheelchair soon.

Dan also suffers from diabetes caused by another genetic condition, hemochromatosis.

“I won the lottery, I guess,” he said with a laugh.

The conductor’s passion

However, HD’s onslaught has not stopped Dan from conducting again for the first time in several years. In today’s rehearsal of “Russian Christmas Music,” he sat in a conductor’s chair and will do so again at the concert.

“I conducted ever day, five hours a day,” Dan recalled. “When you teach music, you stand all day. It would never bother me, even a little bit.

“Over the last six to eight months, I have noticed an extreme shrinking of the time that I can stand without pain.”

Sylvester and band director Mike Cook are “bending over backwards” to make it possible for him to conduct, Dan said. He happily complied with Mike’s request for a taped audition.

Poway High School band director Mike Cook (left) and assistant director Sylvester Sybilski (photo by Gene Veritas)

“You can easily ruin a performance as a conductor, and because the score is an advanced score, he just wanted to make sure I could still do it,” Dan said.

Although Dan experienced some HD movements during the rehearsal, he successfully finished the piece along with the students.

“’Russian Christmas Music’ is a very challenging piece of music,” said Sylvester. “So, even for someone in perfect health, it would be a challenge. I think it went very well.”

“His mind seems pretty clear,” noted Mike, adding that Dan has “an extremely bright wit” and an “obviously still strong” sense of humor.

“It’s a pretty cool feeling to get to control all that sound at once and have it respond to you,” Dan said of the work of conducting. “I couldn’t believe I didn’t really have any good videos of me conducting. I have lots of me playing, but not of my conducting. I’m glad they gave me the opportunity to do this.”

You can watch the rehearsal in the video below.

'Russian Christmas Music' Conducted by Huntington's Disease Patient Dan Boyd from Gene Veritas on Vimeo.

Planning a future for Colby

Dan is also writing an autobiography he wants Colby to read someday. It will include fatherly advice for a young man. It will also address the family’s experience with HD.

During our interview, Colby sat next to Dan. Engrossed in a hand-held video game, Colby raised five fingers when asked to tell his age.

Like many HD families, the Boyles faced difficult decisions. Colby was born not long before Dan’s symptoms began. Even though the couple knew of Dan’s risk for HD, he had not been tested. Nor did they resort to methods for avoiding the transmission of the mutation. They preferred to let life take its natural course.

“Obviously I worried about passing it on,” said Dan. “I just figure there’s always hope for the cure. He could get hit by a bus tomorrow. I could, too. I got a scholarship to UCLA. I played trumpet in 40 of the 50 states. I’ve travelled. I’ve done a lot of good things. Hopefully he’ll be able to experience those things before whatever.”

However, Dan and Audrey are proactive about his HD. They keep informed about the latest developments in HD research. They attended the annual convention of the Huntington’s Disease Society of America in Jacksonville this year and in Las Vegas in 2012. Dan is also participating in a clinical trial to examine the efficacy of the supplement creatine. He plans to enter any other trial for which he qualifies in the future.

“I just want to make sure, whether Colby has it or not, that I’ve done everything possible to help the cause of research,” Dan said. “That’s one of my big responsibilities. When I was a kid they said, ‘Oh, you don’t really have to worry about it, because by the time you’re old enough, they’ll have it cured.’ I remember hearing that time and time again. But that didn’t happen.”

It’s never too late

For now, Dan is taking advantage of every moment.

He uses music, especially playing the trumpet, to try to stave off the impact of HD on his brain.

“There’s so many decisions every second in music,” he said. “It's unbelievable how active your brain is while you’re playing.”

He, Audrey, and Colby will spend Christmas at home in Bakersfield – preceded, of course, by Dan putting out milk and cookies for Colby and Santa Claus.

Audrey didn’t believe people still did that. “She found out the hard way,” Dan said.

“One of the silver linings of this is, because I am home for Colby, I feed him every day, I give him his bath, I wash his clothes, I do his homework with him, I read to him,” Dan said. “We have a really close relationship.”

Dan has a simple message for the HD community, one he will put into practice on December 19: “It’s easy to withdraw and just go into a shell, but it’s never too late to do some of the things that you’ve always done.”

(The winter concert, which will take place in the Poway High School gymnasium, starts at 7. The event is open to the public. Admission is $5. The band directors recommend arriving early to obtain seating. The school is located at 15500 Espola Road.)

‘Alive and Well’ captures struggle against untreatable genetic brain disorder

Watching the recently released documentary film Alive and Well this past Monday evening, I re-experienced the torrent of emotions involved in the fight against Huntington’s disease.

Filmed on three continents, the 75-minute Alive and Well takes us on an odyssey through the lives of six families affected by HD and one HD researcher whose “reason for getting up in the morning is just to do something to solve this problem.”

The stories embody the deepest fears and highest hopes of the HD community.

Alive and Well portrays the utter helplessness of HD patients in the final stages of the disease. The filmmakers visit a medical facility where several HD patients reside. Their bodies appear almost lifeless as they sit in chairs, unable to care for themselves. Their faces are half-frozen, revealing only a wisp of the personalities they once expressed.

These HD people are in a movie, but they cannot even speak their lines.

Honoring HD people, creating an advocacy tool

“Huntington disease has been described as the most devastating disease known to man, and it’s devastating because it robs you of who you are,” says world-renowned HD scientist Dr. Michael Hayden, interviewed in his native South Africa. “You lose the ability to speak. You lose the ability to communicate. Yet your perception is fine. You can perceive things around you.”

Dr. Hayden uses “Huntington disease,” the way people spell the term in Canada, where he has spent much of his career.

“The other devastating part of this is that it’s progressive,” he adds. “There is no way to intervene in the course of the illness. And what’s particularly ironic is that it’s continuous from one generation to the next.”

In their struggles, Huntington’s families provide great inspiration for humanity, “so-called ordinary people doing extraordinary things,” Dr. Hayden continues.

“If people knew the stories that are in these families with Huntington disease, these would fill books and books of adventures and sources of inspiration for the rest of the world. The stories are really profound.”

As the filmmakers say, Alive and Well is about a disease that exists everywhere but is still unknown. It’s also about human resilience.

“We made this film to honor the people who trusted us with their stories, to have this film seen by as many people as possible and to raise awareness of Huntington's disease,” says director Josh Taft, first introduced to HD by Seattle advocate Liz Weber, in a press release. “We wanted a way to share these very personal stories with compassion, strength and beauty. We wanted to create a solid tool for the community to share their stories and to be proud of.”

No regrets

Viewing the film in a downtown San Diego movie theater at a screening organized by Misty Oto of the local chapter of the Huntington’s Disease Society of America (HDSA-San Diego), Alive and Well carried me through the peaks and valleys of my own experience with HD.

My mother was diagnosed with HD in 1995 and died in 2006 at the age of 68. I tested positive in 1999; thankfully, I have yet to show any of HD’s classic symptoms. Our daughter tested negative in the womb and is today a thriving eighth grader.

In the first profile, of 19-year-old Heather Alimossy of Medford, OR, I saw how innocence is lost and life changed forever when someone tests positive for the HD mutation – confirmation that Heather will follow in the footsteps of her HD-afflicted mom.

As shown, Heather forges on in the quest to live a full life. She continues to ride her dirt bike – and she lovingly cares for her mother.

“I don’t want to regret anything,” she says, the film then showing her on a ride through the countryside.

Taking a chance

I was heartbroken by the story of Katy Bradley and her family, of Olympia, WA. Katy married Scott despite learning that his father had HD. At one point, the couple visited him in a nursing home in California.

“I knew by then, especially, what this could turn into,” Katy says. “I guess I took a chance.”

The couple refused let HD “ruin” their lives. They decided to bear children without Scott getting tested. However, without their knowing it, Scott passed on the HD gene to their son Matthew. Scott’s symptoms didn’t begin until well into his adult years, but Matthew developed juvenile HD as a toddler.

In a matter of a few years, Matthew’s symptoms worsened to the point where he was “in a constant state of seizure,” Katy says. “His brain is constantly firing.”

“Today’s it,” says Katy. “So let’s have fun today. So let’s do what we can. Let’s make muffins.”

The vignette finishes with people quietly attending Matthew’s burial. The couple’s small daughter Anna is also at risk for HD. Meanwhile, Scott continues to decline.

A very hopeful note

The other profiles in the film focus on Courtney Rifkin, a gene-positive woman shown climbing Mount Kilimanjaro to raise awareness about HD; Brooks and Dunn drummer Trey Gray, portrayed in his desperate struggle to maintain his skills after HD onset; Mandy Kipfer, a young woman who wants to start a family, filmed as she receives her HD-negative test result; and the middle-aged former NBC News war correspondent Charles Sabine, presented in his role as the HD community’s global advocate while striving to avoid onset.

I could empathize deeply with Trey, because I fear losing my ability to write. I felt terribly jealous of Mandy, although ultimately happy for her, because I want to be free from the shackles of HD. I felt strengthened by Courtney and Charles, because they refuse to give up and are willing to share their stories with the world.

During the film, I sat next to HDSA-San Diego president George Essig, whose extended family is affected by HD. He, too, was moved by Alive and Well.

“It’s been the best representation really of the disease I’ve seen on a variety of levels – physical, emotional, and in terms of the devastation,” George said afterwards, as the audience of 140 filed out of the theater.

The film features an original score plus songs from Radiohead, Pearl Jam, Fleet Foxes, and Sigur Ros. The overall effect is saddening but also upbeat.

“I would also say it has a very, very hopeful note,” George said.

HDSA-San Diego president George Essig with daughter Julia and wife Theresa at the screening of Alive and Well (photo by Gene Veritas)

Spreading the word

George added that he is “anxious to get copies out, because I think we could spread this virally as well as in movie theaters and a part of the whole education process and awareness process for the Huntington’s community.”

Alive and Well is not yet available on DVD and currently can only be viewed in small screenings, but event organizer Misty pledged to advocate for greater distribution of the film.

Alive and Well has shown in a number of other U.S. cities. Advocates can arrange for showings in their communities by contacting the Theatrical on Demand organization GATHR.

“We’re incredibly proud that Liz Weber and the team in Seattle developed this film,” said HDSA CEO Louise Vetter in a phone interview today. “There are a lot of multimedia tools to raise awareness about HD. We’re supportive of all the efforts.”

The producers aim to “bring the film to life” by encouraging HD families to share the opportunity to view it, Louise added. It’s also a way for HD community to “learn how to be alive and well with HD,” she said.

“That’s a very powerful effort,” she observed of the film’s promotion, which has relied heavily on social media. “They’ve been very committed to that grassroots effort from the beginning.”

In recent years, a number of advocates have been producing other films on the disease. Notable examples include: Chris Furbee’s just-completed, 89-minute Huntington’s Dance, chosen to appear at the 2014 edition of the highly competitive Slamdance Film Festival; Kristen Powers’ still- in-progress Twitch; and James Valvano’s still-in-progress The Huntington’s Disease Project: Removing the Mask.

(To read more on HD’s place in the news and entertainment media, click here.)

Yesterday, polio – tomorrow, HD?

Alive and Well begins – and ends – with a message of hope from Dr. Hayden.

“For each of us, we have to find our own passion,” he says at the outset. “That’s what makes life meaningful.”

We all can and must contribute, Dr. Hayden urges us.

“When you grow up in (apartheid) South Africa, you learn very quickly not to accept dogma,” he recalls of his youth in the closing minutes of the film.

Nobody believed HD existed in Africa, he adds. “Unfortunately, it’s alive and well throughout Africa.”

He recounts how, in conducting his Ph.D. research on HD in South Africa, he visited every mental hospital in the country to attempt to measure the frequency of HD among the populace.

Today Dr. Hayden is focused on the pathways to treatments that, although they may not cure the disease, could delay onset to offer people a longer life. (In 2012, Dr. Hayden became the president of global research and development and chief scientific officer for Teva Pharmaceuticals, Inc., a large, Israel-based drug firm, where he continues to promote HD research.)

“I’m really hopeful that we are going to be able to change the course of this illness,” he concludes, “and I think it’s in the near as opposed to distant future. I don’t know what ‘near’ is, but I’m convinced that with the … incredible donations of organs and blood and stories and financial support that’s come from so many quarters that we’ll be able to do something….

“Who would have thought in the late ‘50s there’d be treatment for polio? We can and will overcome this.”