Monday, March 13, 2017

Pope Francis I to meet with victims of Huntington’s disease, a first for a world leader


In an unprecedented encounter, the first for any pope or world leader, Pope Francis I on May 18 will meet with Huntington’s disease sufferers at the Vatican, bringing new attention to this affliction.

The key papal guests will hail from Latin America, the pope’s home region, the area with the world’s most Catholics, and a key locus of the quest for the HD gene from the 1970s to the 1990s.

Several HD-affected HD individuals (with both juvenile and adult onset), three at-risk relatives, and other relatives and caregivers – a total of 16 people – will travel to Rome from Colombia, Venezuela, and Argentina, the pope’s birthplace.

The news was announced today via e-mail by an international coalition of patient advocates and organizations: "save the date for the largest global gathering of the Huntington's disease community!"

The coalition includes Elena Cattaneo, Ph.D., a prominent HD scientist and senator-for-life in Italy; Factor-H, a humanitarian project founded by HD researchers Claudia Perandones, M.D., Ph.D., and Ignacio Muñoz-Sanjuan, Ph.D.; global HD advocate Charles Sabine; and the Huntington’s Disease Society of America (HDSA).

Many physicians in Latin America laid the groundwork for the event through their long-term dedication to local HD communities and assistance in selecting the families.

The announcement comes, coincidentally, on the fourth anniversary of Francis’s election as the first pope from the Americas.

“What I want him to say, in some way, is that the disease should not be hidden anymore,” Sabine, an HD gene carrier, told me. “That’s the theme of the event: that people should not feel any shame or stigma about the disease.”

“This is a dream which has come true,” Dr. Perandones affirmed in a written response to questions about the event. “After working for nearly 20 years in Latin America in order to try to improve the quality of life of patients, and feeling so alone in this endeavor so many times, it seems unbelievable that the pope will receive us.”


Pope Francis I (above, photo by Argentine Presidency/Wikimedia) and the Soto family of Barranquitas, Venezuela, after receiving the invitation to the papal audience in Rome (below, photo courtesy of Dr. Ernesto Solis)




Putting HD on the global stage

The South American HD families will be joined by three dozen advocates and HD family members from other countries, including HDSA CEO Louise Vetter and leading American HD advocate Katie Moser, the 2010 HDSA Person of the Year. Latin American Catholic leaders will also take part.

“As a global leader, Pope Francis has the power to elevate the conversation about HD to an international stage with a call for compassion – and action,” Vetter said.

I was also invited to meet with the pope, because of my interlocking connections with the Catholic Church, Latin America, and HD advocacy. My mother died of HD, and I carry the genetic defect.

I am thrilled! I consider it a privilege and a responsibility to attend, and expect to bring my wife Regina and teenage daughter Bianca. We will represent the HD community in both the U.S. and Brazil, Regina’s homeland. At least three HD-affected individuals will attend from Brazil, according to advocates there.

(Portuguese speakers can watch my report in that language in the video at the end of this article.)

Help desperately needed

Scientists and advocates began discussing an appeal for the Church to help – and then a papal audience – in 2015.

Dr. Perandones, a clinical geneticist with the National Administration of Laboratories and Institutes of Health in Argentina, and Dr. Muñoz-Sanjuan, of Spain, a vice president at CHDI Foundation, Inc., the nonprofit virtual biotech dedicated solely to the development of HD treatments, first raised the idea of seeking Church support for Venezuela’s isolated HD people during a February 2015 CHDI conference. Talking with Sabine and Senator Cattaneo, Drs. Perandones and Muñoz-Sanjuan said that those families desperately needed help.

With aiding those people in mind, Sabine, a native of England, and Senator Cattaneo came up with idea for a papal audience in fall 2015 after Sabine saw a man with Parkinson’s disease have his picture taken with Francis and also learned the poignant story of an HD-affected teen from Buenos Aires. Sabine and the senator found no “reference anywhere by any pope to Huntington’s disease,” he explained.

Thanks to Cattaneo’s connections and the Vatican’s receptivity, they were able to schedule the papal audience. Now, Sabine says of the upcoming meeting, “It is perhaps one of the most historic moments in the history of the HD community.”

According to Sabine, it will mark the first time that any world leader, including a U.S. president, will meet with HD families.



Charles Sabine (above, photo by Gene Veritas, aka Kenneth P. Serbin) and Senator Elena Cattaneo (below, photo from Cattaneo Lab)



A major opportunity to overcome shame, stigma

Sabine, a former foreign correspondent for NBC News, has pursued activism since the mid-1990s, without being yet symptomatic. His father died of HD, and an older brother has the disease.

“I had spent a lot of time working for NBC at the Vatican,” he said. “I know that the pope is the hardest person on the planet to get to – much harder than the American president.”

By blessing and speaking to HD-afflicted families publicly, Francis can make a “profound difference” in combatting the shame and stigma surrounding HD, Sabine added.

“We want as much press on this as possible,” he continued. “We want to engage as many people as possible around the world, not just Catholics, to make this into a larger sum than the parts.”

“Furthermore, we hope this will lead to action, both by the Catholic Church, with its strong presence in Latin America, as well as from local and national institutions,” Dr. Muñoz-Sanjuan wrote in an e-mail.

The public event will take place in a 7,000-seat auditorium, where attendees can observe the pope’s interaction with the South American families and HD advocates. Event organizers want as many representatives as possible from the HD community to attend.

“Anyone can go,” Sabine emphasized. “They don’t even need to be HD-affected. They might just care about HD."



The announcement made today by the international HD coalition; click on image to view larger (photo courtesy of HDSA).

A humanitarian endeavor

The organizers also hope the meeting galvanizes the HD community worldwide. Members of groups such as the global Huntington’s Disease Youth Organization could meet beforehand and go to the event together, Sabine suggested. Other events in Rome will celebrate the unity of the HD movement and solidarity with the plight of Latin American HD communities.

All attendees are required to register on the event’s official website, HDdennomore.com, by May 5. The URL means “HD Hidden No More,” a theme of the papal event linked to Sabine’s previous awareness campaign in the UK Parliament.

The site will provide information on hotels, accommodations for special needs of the affected, and more.

Noting the “immense pressure” on Francis I from ultra-conservative Catholics because of his purported liberal stance, Sabine said that Senator Cattaneo and her staff have stressed the non-political nature of the HD event.

“It’s a humanitarian one,” he said. “It’s a pastoral event. This is about regarding people with compassion and humanity. This pope has shown humanitarian credentials unlike any other.”

South America’s HD-affected: deep struggles

The papal event builds on work by Factor-H, a small nonprofit organization, to improve the living conditions in the Lake Maracaibo region of Venezuela, and other sites where poor HD families cluster. Many HD families in the region live in dire conditions. In some clusters, many generations of intermarriage mean many families have passed on the genetic disease.

Maracaibo has played a key role in HD science. Columbia University scientist Nancy Wexler, Ph.D., started the search for the HD gene among Maracaibo HD families in the 1970s. In 1993, the HD gene was discovered. It was one of the first disease genes to be identified. This research
helped stimulate the Human Genome Project of the 1990s. Dr. Wexler also was invited to meet the pope, Sabine said.

“Poverty and disease are a terrible combination,” wrote Dr. Muñoz-Sanjuan, who has taken aid to Maracaibo and other communities. “Not everyone in Latin America with HD is poor. However, the main clusters in Venezuela and Colombia are very poor, and neglected. That’s why we are focusing on these clusters.”

“These are people living maybe in families of 16 in a space the size of an American garage on stilts on a lake,” Sabine observed. “No electricity. No running water. Nothing. It was so clear that there were so many people like the people at Lake Maracaibo who are affected by the disease and who have never had any kind of recognition from their respective governments or churches.”

Sabine said he hoped the Vatican event will empower Catholic HD families everywhere to seek assistance from their local clergy in raising awareness about HD and alleviating the social burden of the disease.


Dr. Ignacio Muñoz-Sanjuan (seated) with Colombian children at risk for HD (personal photo)

Preparing the logistics

Every HD family knows the extremely difficult challenge of travel for affected individuals, whose symptoms include constant involuntary movements, loss of balance, and cognitive decline. Many require wheelchairs.

To underwrite the cost of the enormously complex task of transporting the HD families to Rome, Sabine raised $100,000 from Israel-based Teva Pharmaceutical Industries Ltd. and $50,000 from the U.S.-based, HD-related Griffin Foundation.

Almost all of the South American travelers must get their first-ever passports, and in some cases even birth certificates.

The Vatican is helping to speed the acquisition of travel documents and to prepare special accommodations for the families, including lodging at a monastery near the Vatican instead of a hotel.

“We felt they would be more comfortable staying all together in a quiet and peaceful place,” Dr. Muñoz-Sanjuan noted. “We assumed that they will experience some culture shock and wanted for them to be at ease during their stay and make the experience more personable.”

Physicians will accompany the families.

A lonely HD teen in Buenos Aires

On January 6, the Feast of the Epiphany on the Catholic calendar (the day the Christ child was visited by three kings, according to the Bible), each of the South Americans received a red envelope from the Vatican with the invitation to meet with Francis. (Video recordings of these moments will become available at HDdennomore.com.)

One was 15-year-old Brenda, who lives in the greater Buenos Aires area, where Francis served as archbishop. She has juvenile HD, which has severely hampered her ability to speak and learn. She communicates mainly by texting on her cell phone.

“The children don’t play with her, so she’s very lonely,” Sabine said. “She has no friends, because they’re afraid of catching HD. The local school wouldn’t give her access to a laptop, because they said there’s not much point, because she doesn’t have long to live.”

“Brenda is my patient and I have a great affection to her,” Dr. Perandones wrote. “She is very clever and sensitive. We have a great connection.”

According to Dr. Perandones, Brenda and her father - from whom she inherited HD - lived with his sister, Brenda’s aunt, whom she calls “mom.”

“A major concern for the aunt at the time was the fact that Brenda and her father shared the bedroom, and his movements during the night scared Brenda a lot,” Dr. Perandones recalled in an e-mail to supporters about Brenda’s reaction to the papal invitation.

To lift the family’s spirits and improve their living situation, Drs. Perandones and Muñoz-Sanjuan raised funds to make a heartfelt “Christmas for Brenda.” That resulted in the remodeling of the aunt’s home, including a new room for Brenda, a full bathroom, and a recreational area.

“Regrettably, Brenda’s father’s health gradually deteriorated and last year, on the day Brenda turned 15, he passed away,” Dr. Perandones wrote. (For girls turning 15 in Latin America, the quinceañera is typically a joyous passage to womanhood.)


Brenda and her aunt (personal photo)

A turning point for HD community

Sabine said “Brenda’s Christmas” helped inspire the idea of a papal audience.

Dr. Perandones, who describes herself as “totally Catholic,” met Francis (then Archbishop Jorge Bergoglio) before his papal election through her support of a group advocating for victims of human trafficking in Argentina. He “always supported” this effort, she recalled in her written response to my questions.

“Many indigent individuals living in the streets of Buenos Aires have neurological and mental health conditions, including Huntington’s disease,” she added. “Bergoglio was interested in this issue and gave his support to start a Homeless Rescue Program."

Dr. Perandones hopes the meeting will make HD move visible and attune others to HD families’ regular difficulties and challenges.

“I think that the meeting with the pope will be a turning point for the HD community globally and particularly in Latin America,” she stated.

In addition to Brenda and her aunt, the papal invitees include HD families from the towns of San Luís and Barranquitas in Venezuela’s Maracaibo region and from the city of Medellín and the small town of El Difícil in Colombia.


Brenda flanked by Dr. Claudia Perandones and Academy Award winner Eugenio Zanetti, a supporter of the HD cause, after Brenda received news of the papal invitation (personal photo).

A testament to the world

Rooted in Christian love and compassion, Pope Francis’s meeting with the HD-affected of South America should reflect the Church’s historic mission of aiding the sick and defenseless. With 1.27 billion Catholics and hundreds of thousands of priests, nuns, and other personnel, the Church runs an enormous, vital network of charitable and social-service entities that could have a significant impact on HD.

With the biomedical revolution, the Church has sought to both apply and adapt its 2,000-year-old moral and theological tradition to today’s bioethical challenges.

The Huntington’s disease community stands on the bioethical frontier. HD families contribute to advances in neurological and rare-disease research, and they have pioneered ways of dealing with the impact of disease such as discrimination, disability, decisions about genetic testing, family unity, caregiving, suicide, and end-of-life care.

The May 18 meeting with Pope Francis will allow the HD community to provide a testament to the world of human perseverance and solidarity and, ultimately, the need to alleviate and cure devastating diseases.

“Those suffering with HD and living in extreme poverty need urgent help to lead a life of dignity and hope,” Dr. Ignacio Muñoz-Sanjuan asserted.

I hope that Francis’s Pope’s humanitarian gesture serves as a message to the church and to world opinion leaders to address the critical need of ameliorating Huntington’s disease.


Janeth Mosquera, of the Colombian HD patient association and Factor-H, hugs an HD man in the town of Choco in the Colombian jungle, April 2016, after delivering assistance (personal photo).



Tuesday, February 28, 2017

Staying when the Chargers leave: a leading Huntington’s disease advocate sets a gutsy, loving example

After the San Diego Chargers’ recently announced move to Los Angeles, team public relations director and Huntington’s disease advocate Bill Johnston made a gutsy, loving decision: after 38 years with the Chargers, he will quit so that his HD-afflicted wife Ramona can stay at the highly-regarded San Diego nursing home where’s she spent the last decade.

Bill made his decision after thoroughly researching nursing homes in Orange County, which is much closer to the Chargers’ new Los Angeles headquarters than San Diego County. He visited seven facilities, paying special attention to their ability to conscientiously care for someone with HD. As the HD community is all too painfully aware, such facilities often provide poor care.

Bill did not find what he wanted. He opted for Ramona to remain at Edgemoor Hospital in Santee, located next to San Diego. A public nursing home, Edgemoor has cared for dozens of Huntington’s patients over the past several decades.

“Everybody would make the same decision I am making if they were in my shoes,” Bill told the San Diego Union-Tribune. “It’s just the situation I find myself in.”

Bill awakes at 4:55 a.m. daily and visits Ramona at Edgemoor before heading to work. She was diagnosed with HD in 1999 but had showed symptoms earlier. She is now in the late stages of the disease, confined to a wheelchair and unable to care for herself. The native San Diego couple met in high school and married in 1983.

“She can’t talk anymore, but she’ll make some sounds,” Bill told the Union-Tribune. “Sometimes, I think she’s trying to say my name. Maybe it’s just wishful thinking.”


The Johnston team at the 2014 Rock-n-Roll Marathon raising funds and awareness for the Huntington's Disease Society of America. Bill has his arm around Ramona, in wheelchair. Daughter Hayley stands directly behind Bill (photo by Andrew McClanahan/PhotoRun.net)

‘I’ll always do what I can’

By interrupting his career and staying in San Diego, Bill is rolling with one of the many punches thrown by HD. His son Jared, 31, tested negative for HD. Daughter Hayley, 28, remains untested; she has a 50-50 chance of having inherited the HD genetic defect from Ramona.

Other HD families have adapted their lives dramatically to meet similar challenges. In my family, my mother died of HD, and I carry the gene. Since my mother’s diagnosis in 1995, HD has frequently dominated my family’s life. Fortunately, our daughter tested negative and is today a healthy teenager.

Bill’s situation reminded me of my own. In 2007, in a wrenching, career-changing decision, I turned down a major job offer in Miami to remain in California, a biotech state with crucial public support for stem cell research. California also has HD-involved companies such as Ionis Pharmaceuticals, Inc., which is currently running a historic Phase I clinical trial of a gene-silencing drug. Most important, remaining in California allowed my wife to keep her relatively well-paying teaching job and pension, our financial lifeline if I become disabled.

I had also bonded with Bill and many other members of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego). Through chapter events, Bill and his family have raised nearly $3 million for HDSA. Their leadership and fortitude have inspired people in the local HD community and beyond.

In response to my e-mail query about his plans for future advocacy, Bill wrote: “I’ll always do what I can.”

“Bill has been a ‘tour de force’ in advocating for the HD community in San Diego and nationally,” HDSA-San Diego president Beth Hoffman, Ph.D., wrote in an e-mail. “Bill has tremendous energy and passion, and brings wonderful and new ideas to our fundraising efforts. He’s always been there to drive the chapter’s success. We are thrilled that Bill will remain in San Diego and look forward to expanding our efforts towards the HDSA mission with him.”

“I am not surprised by Bill's decision to stay,” long-time HDSA-San Diego board member Misty Daniel wrote. “His dedication to Ramona and our HD community has never faltered over the years. Bill's decision to stay reaffirms what most HD families know: that family truly is everything.”


Ramona with Chargers star and HDSA supporter Antonio Gates at the 2007 Celebration of Hope Gala (photo by Gene Veritas)

Change means new opportunities

After 56 seasons in San Diego, the Chargers’ departure angered local football fans and civic leaders. “The Los Angeles Judases have betrayed us for 30 pieces of silver,” wrote Union-Tribune sports columnist Nick Canepa, who is also a member of HDSA-San Diego’s advisory board, in reference to the move

The team’s’ exit has also posed a huge challenge for HDSA. Bill’s involvement since 1999 added the team’s high-profile pro-football brand to most major fundraising events, including the chapter's annual gala. For years, HDSA-San Diego board meetings took place at Chargers’ headquarters, and team owner Dean Spanos allowed use of that facility for fundraisers. In 2003, Spanos and his wife Susie received HDSA’s Harold Leventhal Community Service Award at a dinner in New York City.

However, Bill’s decision to remain has helped offset the feelings of desertion resulting from the Chargers’ move. His connections, creativity, and dedication will help the chapter strike out in new directions. As Bill has always made clear, he’s also in this fight for Hayley – and for all families affected by HD.


Bill and Hayley Johnston exchange ideas at an HDSA-San Diego event in May 2016 (photo by Gene Veritas).

Over the years, other chapter members and even Bill himself recognized the danger of relying too heavily on the Chargers. As a result, the chapter has strived to diversify its sponsor and donor base.

The Chargers’ exodus might also provide unforeseen benefits such as distancing HDSA-San Diego from the uncomfortable connection to a sport now linked to brain diseases similar to HD.

“The Chargers organization has been stellar in its support,” Dr. Hoffman wrote, noting the chapter’s gratitude for the players’ “enthusiastic participation” at fundraisers. “We will miss our Chargers.

“That said, the HDSA-San Diego board and all of our wonderful volunteers are hard at work attracting sponsors and making our events even more exciting. Whenever there are changes, there are new opportunities. Our job is to find and leverage these opportunities to their maximum potential.”

Friday, February 03, 2017

Banning college football: an urgent objective for brain health advocates


As more than 100 million people get ready to watch the Super Bowl on February 5, I’d like to point to the increasing number of people who express deep concern over concussions and disabling brain injuries caused by tackle football.

Advocates for Huntington’s disease and other devastating neurological conditions share such concerns. I witnessed my mother’s ultimately fatal fight against HD, a brain disorder that manifests many of the symptoms experienced by football players who have sustained head injuries, including memory loss, aggressiveness, and suicidal tendencies.

Because I inherited the HD gene, I face the same fate.

I do not wish HD or anything like it on anybody.

I used to like watching football, especially because the San Diego Chargers supported the HD cause. But after the revelations about head injuries, I stopped watching because doing so contradicted my commitment to brain health. I will not tune in on Super Sunday.

Along with a growing number of scientists, brain health advocates, and athletes and their families, I’m disturbed by the traumatic effects of these injuries. This situation impacts not just the players, but their families, who must care for their loved ones as they watch them struggle with and even die from brain trauma.

As an HD advocate and college professor, I have become increasingly distressed that so many colleges and universities – including my employer, the University of San Diego (USD) – still prioritize the entertainment and community-building value of football over the clear risks to student athletes.

If institutions of higher education truly embody academic integrity and guard their students’ well-being, how can they allow football to continue? Are university administrators in denial about brain injuries, as were the executives of the National Football League (NFL)? How can they possibly allow students to take such a risk?

Highly paid NFL professionals now know what they face. In an admission some say echoes Big Tobacco’s recognition that smoking causes cancer and heart disease, in March 2016 the NFL finally acknowledged the link between football and CTE (chronic traumatic encephalopathy), a disabling brain disease first seen in boxers in the mid-twentieth century. Last December, the conclusion of the historic concussion lawsuit against the NFL paved the way to potentially distribute up to $1 billion to as many as 20,000-plus (!) former players.

College players are not professionals, although many coaches and athletic programs treat them as such, albeit without compensation. They are students. Colleges are not businesses. They are institutions of learning. They should not expose students to the possibility of CTE, Alzheimer’s disease, Parkinson’s disease, Lou Gehrig’s disease, and the other disorders caused by concussions and the numerous sub-concussive hits to the head that occur in a football game.

Unnecessary risks

Since November 2013, I have advocated at USD for player safety in light of the revelations about concussions and brain trauma (click here to read more). Other faculty members are also troubled by the risk to student health.

With the mounting scientific evidence about the dangers of football, Professor Daniel Sheehan, Associate Professor Nadav Goldschmied, and I (Gene Veritas, aka Kenneth P. Serbin) have proposed a resolution for the February 7 meeting of the Academic Assembly of the College of Arts and Sciences strongly urging that “the USD football program be terminated immediately.”

We know some consider this premature, or would call us killjoys. But we can’t ignore such a serious threat to student health.

“Knowingly putting our athletes at such risk is not consonant with the mission of the University,” the proposed measure states. “Putting athletes at unnecessary risk puts the University in significant legal and financial jeopardy.”

Last November 17, Prof. Goldschmied advocated for the resolution at an informal College of Arts and Sciences gathering where professors made brief presentations of their research and other activities. Referring to USD’s promotional campaign as a “changemaker” university, he titled his talk “Changemakers? Why USD Football Should be Banned.”

“We advertise ourselves as ‘changemakers,’” he stated. “The question is: are we going to follow, or are we going to lead in what we do with our football program?” He received enthusiastic applause.

Prof. Goldschmied said that he had met with USD President James T. Harris III, D.Ed. to recommend the football ban. Dr. Harris declined to institute a ban, stating that the university would reevaluate as further data about football injuries becomes available.

“And I suggested, how about we do it the opposite way?” Prof. Goldschmied said. “Let’s cancel football and, if the data is promising, we will reinstate it.”

Dr. Harris reaffirmed his opposition to cancelling football at a December 8 USD Faculty Senate meeting. According to Senate minutes, he stated: “No universities have closed their football program in the last decade because of concussion evidence yet. It is a complicated issue. We have a successful and a good program. The answer is no but always open to more data and
concussion information.”

Dr. Harris cited other factors for his refusal such as the team’s excellent graduation rate (higher than the university’s overall rate); football’s ability to attract male students (USD has a majority of women); and improvements in USD’s athletic program’s concussion protocols and concussion education. Of course, college presidents must also deal with pushback from alumni, boards of trustees, and fans.

You can watch Prof. Goldschmied’s presentation in the video below.


Like crashing a car into a wall

As pointed out by researchers, football’s unique danger lays in the fact that it includes subconcussive hits, which don’t rise to the level of a concussion but can compound trauma. While a player might not suffer an in-game concussion, which would get him off the field, he can sustain dozens of the smaller hits.

On January 9, the day Alabama and Clemson played in the college national championship, the New York Times posted a highly telling report illustrating what happens to a football player’s brain from both big and small hits. As a video in the report demonstrates, these hits affect the deepest recesses of the brain.

The article presented data on one lineman’s hits to the head – a total of 62 (!) – while blocking during a single game. The hits had an average force roughly the equivalent to the player crashing a car into a wall at 30 m.p.h. (Click here for the article.)

Given this kind of evidence, it is alarming that football remains a sport at any educational level.

Bo Jackson, the only man to be a baseball All-Star and football Pro Bowler, stated in an interview this month that he would not have played football had he known about the risks of CTE.

“We’re so much more educated on this CTE stuff, there’s no way I would ever allow my kids to play football today,” Jackson said.

A powerful message

As one USD faculty member observed, ending the school’s football program would send a powerful message to other educational institutions, perhaps helping prompt cancellation of college football across the country.

Instead of becoming a “Notre Dame of the West,” as some have suggested, USD, a Catholic institution, could uniquely project itself as a moral and intellectual leader.

Those of us in the Huntington’s, Alzheimer’s, Parkinson’s, and numerous other neurological disease communities know all too painfully the vulnerability of the brain, the immense caregiving cost to families and society, and the suffering of the afflicted.

By joining the cause to protect college students from brain trauma, we can reinforce overall support for brain health and neurological research and funding.

In the final analysis, we are protecting our – and college students’ – most important natural resource: our brains.