Factor-H partners with Latin American organizations to aid destitute Huntington’s disease families, seeks to expand support

Looking to aid some of the destitute Latin American families whose critical participation in research led to the discovery of the Huntington’s disease gene, the humanitarian organization Factor-H is poised to seek new funding sources to expand its support in the region.

Founded in 2012 and based in Los Angeles, Factor-H has spent several hundred thousand dollars on projects for and direct aid to poor HD families. 

On July 27 in Los Angeles, Factor-H president and co-founder Ignacio Muñoz-Sanjuan, Ph.D., took part in the world premiere of the short documentary film Dancing at the Vatican, which features South American HD-afflicted families’ remarkable 2017 encounter with Pope Francis at the Vatican.

At the historic Rome event – for which Factor-H played the key role of selecting and arranging logistics for South American families – Francis declared to a global audience of 1,500 HD family members, scientists, and supporters that HD should be “hidden no more.”

Known as #HDdennomore, it was the first time any pope or world leader met with HD-affected individuals.

“It was probably the most significant milestone of what we’ve done,” Dr. Muñoz said in an interview with me on July 29 at the Los Angeles office of CHDI Foundation, the nonprofit virtual biotech focused exclusively on developing HD treatments and where he is vice president for translational biology. “I think it did give us, as an organization, visibility and some credibility that we can do things that are of a certain magnitude.”

The Dancing at the Vatican premiere launched a new fundraising effort by Factor-H. Dr. Muñoz and the film’s producers, including #HDdennomore organizer and Dancing at the Vatican producer and narrator Charles Sabine (like me an HD gene carrier), are seeking to distribute the film widely. In about a year, it will become available online for free. (Click here for my preview.)

Dr. Muñoz holding hand of HD man in South America (Factor-H photo)

‘A very compelling story’

“It’s a very compelling story, very moving, and very positive in its approach,” Dr. Muñoz observed about the film. Viewing it can help people “fully grasp” the extreme poverty and challenges faced by many Latin American HD families.

Dr. Muñoz said Factor-H will use the film to raise awareness about those families’ needs and reach out to donors. “H,” according to the organization, means “hope, humanity, Huntington’s.”

According to Dr. Muñoz, the film captures well “the intersection of disease with poverty and social justice, which I think the HD experience really highlights very well, and I think the documentary does a very good job of highlighting that.”

Dr. Muñoz answering a question at the Dancing at the Vatican premiere (photo by Eddie Sakaki)

Hiring an executive director

Also, Factor-H has received a grant from the Griffin Foundation to hire an executive director, Bianca Moura, to assist with fundraising and media exposure, and to ease the burden on the all-volunteer board by handling day-to-day operations.

The Brazilian-American Moura, who holds a B.A. in development studies from the University of California, Los Angeles, has worked the past 25 years in business leadership positions and as a consultant. She served as board president and executive director for the Miami Beach-based cultural nonprofit Rhythm Foundation.

She will join the Los Angeles-based Factor-H on September 1.

Gene Veritas (aka Kenneth P. Serbin) with Bianca Moura at Dancing at the Vatican premiere (personal photo)

Challenges in Latin America

In recent decades, Latin American countries have generally experienced stronger democracy and rising living standards. However, in the past few years Venezuela has slipped into a deep political and social crisis, causing four million people to flee the country, a record for Latin America.

Also, Latin American societies remain deeply unequal. In many parts of the region, especially outside the developed neighborhoods of the large cities, the social, medical, and governmental infrastructure is poor and sometimes even non-existent.

There is also little knowledge or understanding of HD.

In 2006, as newsletter editor for the San Diego Chapter of the Huntington’s Disease Society of America  (HDSA), I published an article by 2001 HDSA Person of the Year Phil Hardt documenting the private “jails” in which HD-affected people were locked up by ill-informed relatives in the small town of Juan de Acosta in rural Colombia. The town, about 24 miles west of the city of Baranquilla, has the world’s second largest cluster of HD-affected individuals. Hardt works with Factor-H in the implementation of a children’s project in Colombia (see below).

As Dr. Muñoz observed in our July 29 interview, today some HD families lack fresh water and sewage systems. They live in shacks with little or no furniture. Because physicians specializing in neurology and movement disorders like HD also tend to concentrate in the cities, many of the families living in rural areas or in small towns do not have access to specialized care, he added.

In such a setting, families with Huntington’s disease face enormous challenges.

Giving back to poor communities that helped

Visiting such places in Colombia, Venezuela, and elsewhere was a “life-changing experience” for Dr. Muñoz, he told the audience after the screening of Dancing at the Vatican. He saw people from HD families searching for food in the streets, many abandoned children, and young children caring for their HD-stricken parents.

“There is really little chance of a normal childhood,” Dr. Muñoz pointed out. “Many children living with Huntington’s disease or from HD families are discriminated against. Their lives are full of fear and trauma, due to Huntington’s and social exclusion.”

Dr. Muñoz met patients who went years without any kind of medical or social assistance. Others he met eventually committed suicide.

The Lake Maracaibo region of Venezuela, less than 300 miles east of Baranquilla and also on South America’s north coast, has the world’s largest concentration of HD-affected individuals – described by Sabine as HD’s “ground zero.” There pioneering scientist and HD-family member Nancy Wexler’s research, which included collecting blood samples from the people, helped lead to the discovery of the huntingtin gene in 1993. Some villages in the region have as many as 20 percent of their residents living at risk for the disease, Dr. Muñoz observed. 

(The Casa Hogar, a nursing home and clinic in the Maracaibo area for persons living with HD, opened in 1999 thanks to the efforts of Dr. Wexler and a Venezuelan physician, Margot DeYoung.  At present there are no patients living in the Casa Hogar, although outpatient counseling may be available on a limited basis.)

Factor-H wants to “give back” to those and other impoverished HD communities, Dr. Muñoz concluded, issuing an appeal for support.

“At the end of the day, it’s a civil rights issue,” he added in our July 29 interview. “People should have access to fresh water, to decent care, to a bed. Nobody with HD should be dying or in shame or been abandoned by the families, let alone by their governments.”

Supporting basic needs, education, and medical care

As a result, Factor-H has spent several hundred thousand dollars assisting HD families, so far mainly in Venezuela and Colombia, Dr. Muñoz told me in an August 7 e-mail.

Factor-H has focused on helping meet basic needs, arranging for potable water, clothing, medications, specialized medical care, burial services, and legal assistance. It supports the education of children and also of caregivers and patients, including audiovisual materials for the illiterate.

Factor-H also assists with establishing sustainable community development projects to reduce the huge economic burden HD typically causes for families. In the future, it hopes to help establish community centers.

Building a sense of pride for young at-risk people

With its emphasis on children and teens, in 2015 Factor-H established Project Abrazos (“hugs” in Spanish). The program helps children remain in school. The program currently supports 42 Colombian and 100 Venezuelan children ages 5 to 15, all at risk for HD. Factor-H also helps promote sports and recreational activities.

In Colombia, the children also get to vacation during summer and at Christmas “so they have a proper childhood,” Dr. Muñoz said at the premiere. “It’s wonderful to see them doing so much better than when we met them.”

In July 2018, Factor-H co-sponsored the first Latin American Huntington’s Disease Conference in Barranquilla. The conference included activities for Juan de Acosta residents. It was structured to address HD not just as a medical or educational challenge, but also as a social problem, Dr. Muñoz explained.

In tandem with the conference, the Huntington’s Disease Youth Organization (HDYO) organized a meeting for young people from six Latin American countries. For many, it was their first experience of global solidarity and friendship in the HD cause. Factor-H hopes to hold the conference every two years.

Dr. Muñoz described how teens and young people experience the shame, stigma, and social isolation often associated with HD. 

“In many cases, they felt nobody was going to love them and marry them, because they came from an HD family,” he explained in our July 29 interview. “In many instances, I felt that people had no hope that they were going to lead a productive life because they were going to die from Huntington’s, so therefore why go to university and so forth.” 

To overcome this outlook, Factor-H seeks to build a sense of pride, confidence, and growing sense of community in young people, which will help create a new generation of leaders for the Latin American HD community, Dr. Muñoz pointed out. 

Anyervi’s transformation

At the premiere, Dr. Muñoz offered the example of how the life of Anyervi Gotera, 16, of the Maracaibo region, has been transformed by Factor-H and #HDdennomore – despite having learned the day after meeting Pope Francis that he has juvenile HD, in which symptoms appear as early as the toddler years.

Before the pope's arrival in the Vatican auditorium, Anyervi was honored on stage and given a soccer ball and jersey autographed by Brazilian star Neymar.

“When I first met Anyervi a couple years before then, he wouldn’t look at me in the eye,” Dr. Muñoz told the audience. “He was embarrassed, almost ashamed. He didn’t get out of his home in San Luís. He had no friends. He had been pulled out of school because he was being bullied. He usually played alone with a small ball in the back of the house.

“However, today I can say for sure that Anyervi’s story is one of very profound change. He’s adored by his community. He has many friends – his mother would say too many. He’s a very confident teenager, in spite of the disease and because of his speech impediments. In some ways, he has become a hero in his own town.”

Sadly, juvenile HD sufferers like Anyervi rarely live beyond their 20s and often die in their teens. Anyervi’s HD-stricken father, who passed on the gene to his son, died earlier this year. He was in his 40s. 

Juvenile HD-affected Anyervi with soccer ball after #HDdennomore, May 2017 (photo by Gene Veritas)

Establishing trust

In order to understand HD families’ needs, Factor-H also assists with the socioeconomic mapping of HD communities in Latin America. However, Dr. Muñoz stressed that it does not conduct or finance any scientific or clinical research.

Instead, Factor-H aims to form a “trusting relationship” with HD families, he explained in our July 29 interview.

“A lot of the initial experience of impoverished communities with Huntington’s disease with medical or scientific professionals has always been around their participation in a scientific or clinical study,” he said. “So there was a bit of a misperception that I was there as a scientist to study them, which wasn’t the case.

“Our strategy from the beginning was to get to know them as individuals and as a community, understand their history, understand their needs, and also identify local organizations or community leaders who we could work with to channel help and be able to implement projects to their benefit.”

Thus, Factor-H partners with local HD associations, foundations and nonprofit organizations, universities and medical schools, aiming to maintain full transparency, for example by holding public meetings, Dr. Muñoz said.

(Though #HDdennomore indicates progress, the Catholic Church has offered limited and sporadic assistance so far, but Dr. Muñoz said he believes more help may be forthcoming. Recently, Factor-H received a small grant from the Italian branch of Caritas, the Catholic international aid agency.)

Local HD groups and families need “to be involved at every step of the way,” Dr. Muñoz said. “We don’t want to be an organization that comes in from outside to tell people what they need to do.” 

Factor-H and its partners seek to raise awareness regarding HD among Latin American governmental and nongovernmental organizations, then stress the need to assist affected families with specialized support, Dr. Muñoz explained.

Expanding across Latin America – and beyond?

According to Dr. Muñoz, in addition to Venezuela and Colombia, Factor-H has also pursued projects in Chile and Peru. It brought an Argentine family to #HDdennomore and has also done fundraising in that country, and it involved Brazilians in the 2018 HD conference in Colombia. Factor-H has also received inquiries from Ecuador and Costa Rica.

Factor-H would like to extend to all of Latin America, Dr. Muñoz said.

In Brazil alone, Latin America’s largest country (and the world’s fifth largest) with 210 million people, an estimated 20,000 people have HD. (Dr. Muñoz visited a poor, isolated HD community there in 2013.) Mexico, the world’s eleventh largest country, also doesn't yet have Factor-H programs.

Indeed, HD organizations, even in rich countries, have been able to afford family and community assistance at best only on a small scale.

WeHaveAFace offers a small family assistance program currently operating in Canada, but the U.S. branch is currently out of funding, Kevin Jess, the WeHaveAFace Canada vice president, told me in an August 9 Facebook interview.

HDSA and its National Youth Alliance provide scholarships to its annual conventions, but have no family assistance program. However, as HDSA CEO Louise Vetter explained in a phone interview August 12, the organization keeps the HD community informed of other assistance programs such as the Thomas Cellini Huntington’s Foundation and Healthwell Foundation’s fund to help with HD medications.

HDSA assisted Factor-H with #HDdennomore, the shooting of the footage for Dancing at the Vatican, and the Los Angeles premiere, Vetter said. It has also helped Factor-H with project management.

“It’s part of our responsibility to the global community that we make sure that all families affected with HD have access to the best information and best resources,” she said, adding that HDSA is also “very active in international partnerships and collaborations” with HDYO, the International Huntington Association, the European Huntington Association, and HD Cope.

Noting that the Factor-H is applicable anywhere, Dr. Muñoz believes that it could someday set up elsewhere in the developing world. 

“Any family with Huntington’s that’s living in difficult situations socially or financially, if we can help, we should be able to help,” he said.

For any of this to happen, he added, Factor-H needs broader support among both individuals and institutions.

Watch my July 29 interview with Dr. Muñoz in the video below. Just below that video, watch our additional interview in Spanish about Dr. Muñoz’s scientific background and research, Factor-H, and the progress towards HD treatments.

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).

Hope, cutting-edge science, and poignant moments at the World Congress on Huntington’s Disease

The first such HD meeting held in a developing nation, last month’s World Congress on Huntington’s Disease (WCHD) not only highlighted the need for better understanding of the disease in Latin America. It also revealed the growing global importance of the the quest for both better care everywhere and the development of treatments.

Featuring activities for both researchers and families, the sixth WCHD featured some 20 panels, a poster session, a satellite symposium, joint meetings of the International Huntington Association (IHA) and the Associação Brasil Huntington (ABH), entertaining evening wrap-ups by HDBuzz.net editors Dr. Jeff Carroll and Dr. Ed Wild, and a moving presentation by the France-based HD performance group Dingdingdong.

Like most HD conferences, the WCHD stressed advances in the search for treatments. The four-hour-long closing session included an update on clinical trials, a talk on deep brain stimulation and HD, a presentation on cutting-edge RNA-interference-based (RNAi) therapies, and an overview of the efforts to reduce or block the deleterious effects of the faulty protein huntingtin in the brain.

“There is a lot of hope,” said Dr. Doug Macdonald, the director of drug discovery and development for CHDI Management, Inc., which directs the multi-million-dollar effort to defeat HD by the CHDI Foundation, Inc., in his presentation. “There is a rich pipeline of these therapeutics advancing into the clinic. We have direct delivery of huntingtin-lowering agents, the viral delivery of RNAi agents, and viral delivery of zinc finger protein agents.”

Dr. Macdonald provided a clinical-trial timeline for these potential drugs. The first is likely to be the huntingtin-lowering drug under development at Isis Pharmaceuticals, Inc., and Roche, scheduled to enter a Phase I trial by the end of 2014. Other projects may begin trials in the next few years, Dr. Macdonald added.

For a detailed explanation of these approaches and more on timelines, watch Dr. Macdonald’s talk in its entirety in the video below. See also a discussion of other types of trials and general coverage of the WCHD at www.HDBuzz.net.

You can view 32 more chronologically ordered conference-related videos by visiting my 2013 World Congress on Huntington’s Disease album on Vimeo.

Modulating Huntingtin Levels to Treat Huntington's Disease: A Talk by Dr. Doug Macdonald from Gene Veritas on Vimeo.

From exciting science to social consequences

The WCHD scientific presenters focused on a panoply of other HD themes, from exciting developments in basic science to current medical treatments of symptoms to the social consequences of HD.

Dr. Elena Cattaneo of Italy presented the latest research on the origins of the huntingtin gene.

“The normal gene is a gene that everyone has,” Dr. Cattaneo explained. “Everyone in the world has that gene. At some point, we started to think that, if we have that gene, it means that gene is important. So about ten years ago my group, but also other groups, started looking for the function of the normal gene. Of course, we know that in the disease the mutant gene causes the loss of the neurons. But in order to understand more about the mutant version, we wanted to understand what the normal version was doing.”

Scientists discovered that the normal gene is important for “keeping the neurons healthy and alive and working properly,” she said.

The huntingtin gene was “born” in an ameba species 800 million years ago, she continued. “This is the first pluricellular organ, and the huntingtin gene is there. Pluricellular means that cells talk to each other to form an organism…. I started thinking of huntingtin as a gene with a social function, because it brings cells together. So let’s assume that huntingtin is such a gene. Huntingtin is a good gene. It is not a bad gene.”

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

The Role of the Huntingtin Gene in Huntington's Disease: A Presentation by Dr. Elena Cattaneo from Gene Veritas on Vimeo.

Other notable presentations included Portuguese Dr. Joaquim Ferreira’s detailed review of the various ways in which doctors treat patients and Dr. Anita Goh’s discussion of genetic discrimination and HD.

The Latin American perspective

The WCHD brought a key South American perspective on HD.

“For one thing, the participation of a number of Latin American neurologists, geneticists, and family members offered some new views of Huntington's disease in countries such as Brazil, Peru, Argentina, and Colombia – countries we often do not hear about at international HD meetings,” Dr. Alice Wexler, a historian of HD science, observed in an e-mail after the congress. “Because the extent of Huntington's in these countries is not well known, many of these researchers presented epidemiological and demographic information that was new to most HD researchers, along with clinical and genetic data.”

Dr. Robert Weiser of Venezuela provided a view of HD in Maracaibo, Venezuela, the world’s largest known concentration of HD patients, while Dr. Carlos Cosentino of Peru and Dr. Laura Jardim of Brazil presented their unique research on other aspects of HD in the region.

The WCHD highlighted a stark contrast between the First World, where many HD patients can consult with physicians in modern clinics, and Latin America, where large pockets of HD-affected individuals get no medical attention and lack even such basics as clean drinking water.

Several participants noted that such conditions must improve dramatically for these families to take part in the studies and clinical trials crucial for finding treatments, including Enroll-HD, discussed below.

Rodrigo Osorio of Chile and Alice Wexler’s sister Dr. Nancy Wexler of the U.S. gave moving testimony regarding some of the efforts in the region to improve the conditions for patients, while Dr. Ignacio Muñoz-Sanjuan of CHDI advocated for a recently launched charitable, medical, and care initiative serving Latin America called Factor H: Hope, Huntington’s, Humanity. In their interview with me in Spanish, activists Aleska González and Vivian Puchi elaborated on the major challenges facing the HD community in their native Venezuela.

You can watch Muñoz-Sanjuan describe Factor H in the video below.


Factor H: Hope, Huntington's, Humanity from Gene Veritas on Vimeo.

Riveting stories

The WCHD also gave voice to the riveting stories of HD patients, tested and untested at-risk individuals, caregivers, and family members.

I participated in a plenary session titled “Coping.” The session began with a troubling presentation by Dutch Ph.D. student Marlous Hubers on the topic of “suicidality in Huntington’s disease.”

“In general, suicide occurs two to eight times more often in Huntington’s disease than in the general population,” Hubers stated. “In general, it’s said that 5.7 percent of all deaths in HD are due to suicide, which makes it the third or fourth cause of death in HD…. Screening for suicidal ideation is most important in patients with a depressed mood, as all studies found it as an important predictor.”

Shaken by Hubers’ incisive data, I started my own presentation on coping, which followed hers, by observing that “Marlous’s extremely important research really brings home some issues for me. It brings up lots of memories of how I’ve been trying to cope with living gene-positive for Huntington’s disease. I think she hit the nail right on the head with respect to how gene carriers need help, and gene carriers are kind of on their own, not only with respect to suicide, but other aspects of the disease.”

Collecting myself, I proceeded with a detailed rundown of the many strategies I have adopted to avoid the onset of symptoms.

You can watch my presentation in its entirety in the video below.

Coping with the Threat of Huntington's Disease: Gene Veritas speaks at the World Congress on HD from Gene Veritas on Vimeo.

In one of the most poignant moments of the WCHD, Dr. Carroll and his wife Megan revealed how they conceived their HD-free twins, a boy and a girl, using PGD, preimplantation genetic diagnosis.

The topic was particularly striking for Latin Americans. Genetic testing and genetic counseling are still a rarity, and it’s unclear how much people know about PGD or have used it. In addition, abortion is illegal throughout most of the region, and, at least in the Brazilian case, legislation against genetic discrimination is lacking.

Watch the Carrolls discuss PGD and hear the audience discussion in the video below.

Preimplantation Embryo Selection: Avoiding the Transmission of Huntington's Disease from Gene Veritas on Vimeo.

From young people, with love

The WCHD also had a strong youth presence. I interviewed England-based Matty Ellison, the 25-year-old founder of the Huntington’s Disease Youth Organization, about his father’s fight against HD, his own experience of testing positive for the gene at the age of 19, and his international advocacy.

The most unusual and beautiful moment of the WCHD came with the performance of Dingdingdong, a group of young adult performers representing French HD families and reflecting many themes relevant to young people facing HD.

The group put on From Huntingtonland with Love, a three-part presentation in English involving a short play, a video, and a silent dance performance by chogeographer and dancer Anne Collod, in which she mimics the chorea, or involuntary, dance-like movements, suffered by most HD patients.

You can watch Collod in the video below.


A Portrait in Motion of D., a Man Suffering from Huntington's Disease from Gene Veritas on Vimeo.

A costly event

For me, one drawback of the WCHD was the high cost of the venue, the Sheraton Rio Hotel and Resort, a luxury-class facility on the beach of Leblon, one of the world’s most expensive neighborhoods. My room cost nearly $400 per night, the most expensive room I have ever paid for, and out of reach for vast numbers of Latin American families. (And I couldn’t even share that expensive room with my wife, since she was back home with our daughter.)

Along with several family advocates and others, I noted how the exclusive facility, as well as the scheduling of the event the same week as the Rock in Rio music festival, had made it extremely difficult for low and even middle-income families – and perhaps also local research students – to take part.

As an experienced Brazil hand, I thought the organizers might have chosen less expensive, more accessible facilities. In my opinion, holding the meeting in less-glamorous but more convenient São Paulo – where ABH headquarters are located – would have been a good option.

Dozens of Brazilians attended the WCHD, but only a handful of people came from other countries, even from the aforementioned world leader in HD patients, Venezuela.

Nevertheless, as I wrote in my previous article, overall I thought the WCHD ran very smoothly, and families and IHA made important new connections.

A boost to Enroll-HD

Following the WCHD, CHDI ran a seminar to train medical professionals from Argentina, Brazil, Colombia, and Venezuela how to evaluate HD patients and collect medical information on them for Enroll-HD, the recently inaugurated global HD observational study and database.

Enroll-HD aims to improve tools to assess the disease, identify and characterize biomarkers (signs of the disease) necessary for measuring the effectiveness of treatments, recruit participants for other studies and trials, and improve clinical care everywhere.

Featuring Enroll-HD on one of its panels, the WCHD in Rio provided an important moment for publicizing the program and attracting participants.

(I will report on Enroll-HD at the WCHD in a future article.)

Continuing to foster international connections – and greater family participation in future conferences at all levels – will increase the chances of success of Enroll-HD and ultimately the defeat of HD.