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.

‘Dancing at the Vatican,’ about Huntington’s families’ remarkable papal audience, premieres July 27

Dancing at the Vatican, a short documentary featuring South American Huntington’s disease-afflicted families’ remarkable 2017 encounter with Pope Francis at the Vatican, will premiere in Los Angeles on July 27.

The 38-minute film captures key moments of those impoverished, disease-stricken families’ extraordinary journey – some had never ventured beyond their home towns; some even lacked birth certificates – to their meeting with the Spanish-speaking Francis, the first Latin American pontiff in the Catholic Church’s 2000-year history.

The documentary is narrated by Emmy-award-winning former NBC-TV foreign correspondent Charles Sabine – like me, an asymptomatic HD gene carrier – and one of the lead organizers of “HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America.”

“In the course of 26 years as a television journalist, living through more than a dozen wars, five revolutions, and four earthquakes, I witnessed many examples of people achieving the seemingly impossible,” Sabine says in introducing the film, which I previewed online July 21. “None, though, was as inspirational as the tale I’m about to tell.”

The film portrays the struggles of HD family members such as Dilia Oviedo Guillén, a Colombian woman who lost her husband and five children to the disease.

Dilia provides 24-hour care to four more adult children. “I have to wash, cook, and feed them,” she says in the film. “You have to do all that for them. They can’t use their hands to eat. They’re my children, so I feel as if I have their illness.”

Dilia has no professional caregivers or physical therapists to assist her. The family is so poor that she had to bury three of her children in a single grave.

In showing the struggles of Dilia’s family and others, Dancing at the Vatican captures the underside of the HD world. Such families deal with one of the humanity’s most devastating diseases and severe poverty, lack of opportunities, poor or non-existent infrastructure, neglect by the government and society, and stigma and discrimination.

However, as Sabine wrote me in an e-mail today, he and the filmmakers also sought to include "happy tales set against the dark canvass of our disease."

“‘Pope meets sick people’ was not a headline the world’s media would care about,” Sabine wrote.  “‘Pope meets sick people with an extraordinary visual backstory,’ was.”

The film follows Dilia’s family and four others as they tour Rome; are received in the Italian Senate by its president and world-renowned HD researcher, Senator for Life, and #HDdennomore organizer Elena Cattaneo; and anticipate the big moment with Pope Francis.

From the Dancing at the Vatican website. Dilia Oviedo Guillén is pictured in the center.

Proceeds benefit Factor-H

The premiere will take place at the SilverScreen Theater, Pacific Design Center, 8687 Melrose Avenue, West Hollywood, CA. Doors open at 5:30 p.m., with a screening of the film at 6 p.m., followed by a Q&A and refreshments. Actress and singer Kate Miner, also from an HD family and a participant in the papal audience, will emcee the evening. Self-parking on the street or at the Center ($10) is available.

Directed at the HD community and the general public, the event and the film seek to raise awareness about HD and, as key HD researcher Ignacio Muñoz-Sanjuan, Ph.D., wrote in an e-mail, “the desperate situation of many HD families in Latin America.”

Sponsored by HD-focused drug developers Ionis Pharmaceuticals, Inc., Genentech, and Wave Life Sciences, admission to the premiere is free. (Click here to register.)

Sabine recorded a one-minute video personally inviting the HD community to participate in this “extraordinary celebration.”

Those who wish can contribute to Factor-H, a nonprofit that seeks to improve the quality of life of poor HD families in Latin America. Founded by Spanish-born neuroscientist Dr. Muñoz-Sanjuan and the Argentine physician Claudia Perandones, both featured in Dancing at the Vatican, Factor-H currently supports families in Chile, Colombia, Peru, and Venezuela. Venezuela’s Lake Maracaibo region has one of the world’s densest clusters of HD families, with many residents donating blood in the scientific quest for the HD gene.

Instrumental in #HDdennomore, Drs. Muñoz-Sanjuan and Perandones saw the papal audience as a way to further Factor-H’s work. The organization seeks to expand assistance to other nations.

Sabine and the filmmakers chose Los Angeles for the world premiere because Southern California is a “‘perfect storm’of the HD community – a collaboration of the best of researchers, advocates, clinicians and support groups,” Sabine wrote. However, he also recalled the “truly international nature of the event and film,” noting that 28 countries were represented at #HDdennomore.

In fact, the film has planned premieres in Washington, D.C., London, Rome, Glasgow (Scotland), and South America. Later it will become available online.

Bringing joy and hope

My wife Regina, daughter Bianca, and Brazilian mother-in-law Lourdes took part in #HDdennomore (click here to read more). 

We watched Pope Francis declare that HD should be “hidden no more.”

“It is not simply a slogan, so much as a commitment that we all must foster,” the pope urged the audience of some 1,500 HD community members from around the world.

The film depicts how, after his speech, Francis greeted and hugged each member of the HD-afflicted South American families, sometimes caressing their heads as they spoke to him and cried.

Watching Dancing at the Vatican took me back to those poignant moments in the papal meeting hall. I teared up, as I did that day. 

As Sabine states in the film, #HDdennomore was “the biggest event in the history of Huntington’s disease.”

Dancing at the Vatican underscores the deep medical and social suffering of HD, which, in South America, is exacerbated by poverty and inequality.

However, as the film also shows, those HD families got a wonderful moment to celebrate, smile, and dance.

Thanks to the organizers of #HDdennomore, Factor-H, and Pope Francis, the terrible burden of HD perhaps feels a bit lighter for all affected families. We can all share in that joy – and the hope offered by Francis – by watching Dancing at the Vatican.

(For background on #HDdennomore and its impact, click here and here. A future article will explore Factor-H in depth.)

Brazil’s big place on the Huntington’s disease map

The defeat of Huntington’s disease could hinge in good part on how well the HD movement in developing countries, in cooperation with national governments and international HD organizations, can alleviate poverty and other social problems that hinder efforts to engage affected people in the fight against the disease.

Eyeing the excellent scientific progress towards treatments but also the barriers to greater family involvement, the global HD community this year will focus on Brazil, a leader in the developing world and the host of this year’s World Congress on Huntington’s Disease, scheduled for September 15-18 at the Sheraton Rio Hotel & Resort in Rio de Janeiro.

The sixth world congress since the inception of the event in Toronto in 2003, this first-ever gathering of this magnitude in Latin America will draw hundreds of HD researchers, physicians, activists, and affected individuals and families from around the region and the world to hear presentations on the latest HD research and participate in activities aimed at helping HD people and their families cope with the disease.

Brazil, the host of the 2014 World Cup in soccer and the 2016 Olympic Summer Games,  has emerged as a global economic power, tied at sixth with the United Kingdom in world Gross Domestic Product rankings.

With over 190 million people, the world’s fifth largest population, Brazil could add potentially hundreds, if not thousands, of participants to the recently inaugurated Enroll-HD program, an international study of HD patients, at-risk individuals, and their families. Enroll-HD aims to increase knowledge of the disease and the pool of participants for research studies and clinical trials, which are crucial for developing and testing treatments.

However, despite its growing geopolitical and scientific-medical significance, Brazil remains far from First World status, with tens of millions of people still living in poverty unimaginable to most Americans and Europeans, high levels of corruption, frightening urban violence, and a weak public primary and secondary educational system.

On the HD front, awareness, fundraising, and research in Brazil lag far behind the U.S., Canada, and Europe.

“The congress had to be in Brazil,” said Dr. Mônica Santoro Haddad, a leading neurologist and member of the local organizing committee. “Brazil needs to take on a position of leadership in the region.”

However, Dr. Haddad added that within Brazil the HD community must be “more active in its decision-making, not passive.”

A herculean task: changing culture

A native of São Paulo, South America’s largest city, the 48-year-old Dr. Haddad is the director of the Brazilian Academy of Neurology and an active member of the American Academy of Neurology (AAN).  In 1997, she helped start the São Paulo-based Associação Brasil Huntington (ABH), where she serves as medical advisor.

In her 25-year career, Dr. Haddad has attended to some 400 HD-affected families at her clinic in the region’s largest hospital, the Hospital das Clínicas of the University of São Paulo. She has followed 50 more families in her private practice.

At the 65^th AAN meeting in San Diego last month, the ebullient Dr. Haddad granted an interview about HD in Brazil and the goals of the World Congress. She spoke passionately in Portuguese – the language I learned for my academic research as a historian – about the great hopes for HD treatments in the coming years, the need for the Brazilian HD community to become better organized, and Brazil’s potential to make a difference in the HD field.

Dr. Mônica Santoro Haddad (photo by Gene Veritas)

“We’ve got a herculean task before us, which is to change two cultural trends,” Dr. Haddad said. “One is the question of discrimination. Within the families themselves I hear, ‘Whoever has the disease is a worse person than those who don’t have it.’

“That makes absolutely no sense. People who have Huntington’s are more than a defect in their genetic material.”

The other trend involves resistance to private fundraising, a societal challenge throughout Brazil. Whereas private U.S. sources have provided hundreds of millions of dollars for research and care programs over the past two decades, the ABH gets by on a startlingly humble annual budget of $40,000, all of it from small donations from HD families.

“A cultural trait of Brazilians that is very different from Americans is that many Brazilians don’t have the habit of donating money or time to causes, whether they be scientific or cultural or artistic,” said Dr. Haddad. “I admire that in American culture.”

“Unfortunately, I’ve seen people in my private practice who have a lot of money and use that money to simply hide or minimize the fact that they’re from families with Huntington’s,” she added. “In Brazil, people don’t donate, because they believe that if they do, they’ll be compromising themselves and publicly assuming a cause. They’re not capable of donating anything to the cause, even anonymously.”

The Brazilian way of denial

As in the U.S. and elsewhere, fear and denial frequently underlie people’s decisions to avoid genetic testing and facing the terrible medical and social challenges posed by the disease.

Many Brazilians retain “prejudice against disease,” Dr. Haddad lamented.

“Brazil is a country where, ten years ago, and even among people today, almost nobody said the word ‘cancer,’” she said. “People said: that disease. That prejudice is something that people inherited. They want to keep a distance between themselves and disease, because it’s a magic way of protecting themselves against disease. Embracing a cause of that type and assuming publicly that there’s a problem is very difficult.”

With HD, she added, people rely on a similar “magical way of thinking, such that, if one doesn’t undergo genetic testing, it’s as if one doesn’t have the disease. ‘If I don’t think about it, it ceases to exist.’”

Similar patterns of denial hamper awareness-building and advocacy, Dr. Haddad continued.

“My impression is that Brazilians think that if they don’t know much about the disease, or if they don’t participate in some way and attend meetings, that they will perhaps be protected,” she said. “Precisely, the challenge for people at risk for the disease is to understand that they need to participate in clinical studies, the ABH, and epidemiological studies. Without their help, we’re not going to find the best solutions for Huntington’s patients.”

The situation described by Dr. Haddad is exacerbated by the general ignorance about HD in Brazil. Most physicians and other health professionals fail to understand the symptoms, she said.

“Unfortunately, there must be a lot of people incorrectly diagnosed, simply diagnosed as having ‘degenerative disease X,’ without anybody following up,” she said. “Perhaps the government doesn’t even know exactly what Huntington’s disease is, because it has to deal with so many other widespread and serious health problems that affect our population.”

From handouts to changing lives

Advocacy faces further hurdles in the way Brazilians relate to government, Dr. Haddad observed. In Brazil, many people “wish for handouts.”

“Unfortunately, some people are so poor, that they want to ask for diapers or a simple dwelling to reside in,” she explained. “I believe that the function of the ABH is to obtain benefits for the entire community. It’s okay if you need a pack of diapers. But that is not going to change people’s lives.”

Among other goals, Dr. Haddad explained, the ABH and the HD community need to lobby the Brazilian Congress, push for a national HD day or month, continue to raise awareness about the disease among health professionals, obtain social security benefits and free medications for HD-affected individuals, and seek funding from government agencies.

Although São Paulo has world-class physicians and medical facilities, she runs her HD clinic with just two other health professionals and an occasional intern.

“It’s important to train health professionals capable of detecting Huntington’s disease or at least suspecting what it is and then referring the person to a larger facility to make the diagnosis,” Dr. Haddad explained. “We need to create ways, in a country the size of Brazil, to transfer this knowledge via video-conferences or a distance-learning center that can answer people’s questions.”

Individual members of the HD community also need to understand the impact of their inaction, Dr. Haddad added.

To illustrate her point, she used the example of organ donations. Many people reject the idea without thinking of the consequences, she said.

“I joke with them: ‘If you wrote down that you don’t want to receive an organ donation, that would require you to think more about the matter and to put yourself in someone else’s shoes,’” she said.

Goals at the World Congress

Together with other physicians and leaders of the HD community, Dr. Haddad hopes to use the 2013 World Congress to stimulate the movement in Brazil.

“The families are excited,” she said.

Dr. Haddad observed that the congress will provide them with access to world-class expertise on HD. The official language will be English, but all sessions will have simultaneous translation into both Spanish and Portuguese.

Dr. Haddad also hopes that, by exposing Brazilians to people from HD entities in other countries, the congress will drive home the point about “the importance of organized participation.”

The congress also has created an opportunity for the ABH and neurologists to inform Brazil’s Ministry of Health about HD, invite ministry officials to participate in the congress, plan strategies for improving the lives of HD-affected families, and pave the way for the success of Enroll-HD.

Yet another key goal will be to put “Brazil on the map of Huntington’s disease research,” Dr. Haddad added. In this respect, the congress will demonstrate to foreign researchers the excellence of Latin American researchers, she said. It’s also an opportunity to recall the key role of HD people in Venezuela in the discovery of the HD gene, a process that culminated in 1993. (At 2 p.m. EDT tomorrow, April 3, a symposium on the 20th anniversary of the discovery will take place in Washington, D.C. It can be viewed live at: http://www.ustream.tv/channel/hdgene.)

In presenting the aims of Enroll-HD at the congress, Dr. Haddad and a colleague hope to suggest to Latin America’s basic researchers the opportunities for research in the HD field. Currently, only a few basic researchers in Brazil focus on HD.

She said that they want to show Brazilian scientists that HD “is a very interesting disease to study,” providing, for example, a model of experimentation that can be used in other areas of research.

Brazil’s contribution to Enroll-HD

For the first time, Enroll-HD is taking the study of HD and the search for treatments global in a coordinated way. Working with groups such as the Latin American Huntington’s Network, it seeks to secure the international cooperation and volunteers necessary for success.

                                                  

Supported by the CHDI Foundation, Inc., the multi-million-dollar non-profit virtual biotech firm aimed solely at finding HD treatments, Enroll-HD in Latin America gets under way this month in Argentina. Dr. Haddad, the lead coordinator of the project in Brazil, estimated that it will start there in the first half of 2014.

Although no study exists documenting the number of HD-affected people in Brazil, Dr. Haddad believes that, as in the U.S., about one in 10,000 people have the disease. Thus, as many as 19,000 people in Brazil suffer from HD. Because the country still has many large families, the number of people at risk is many times that number, she said.

As in some other Latin American nations, where patterns of colonization and intermarriage in some isolated areas led to a prevalence of HD at rates hundreds of times higher than the U.S. average, Brazil has some examples of an extremely high occurrence of the disease. In the town of Feira Grande, for example, researchers found 22 patients in a population of just 22,000 people – ten times the U.S. rate.

“Brazil can contribute a lot (to Enroll-HD), because we have a large number of people who could participate in clinical trials and who might be those ‘gifts of nature,’” Dr. Haddad stated. “These are people who have developed the disease in a different, less harmful way, due to a modifier gene, for example, and who can be studied so that we can reproduce their experience for others through the use of new kinds of treatments.”

Enroll-HD will include the collection of blood, cerebral spinal fluid, and potentially other biological samples (such as skin and urine) to be shipped to a bio-repository in Milan, Italy. Researchers everywhere will be allowed to apply for permission to use the samples.

Extending the work she and others have carried out in Brazil and other parts of Latin America in recent decades, Enroll-HD will enable physicians to improve the care of HD patients, especially those living in poverty, Dr. Haddad concluded.

As part of the worldwide effort against HD, those patients could help provide the keys to victory.

(For a recent article on the question of poverty and HD research in Latin America, click here. Also see the ongoing story of efforts by the Hereditary Disease Foundation to assist HD families in Venezuela by clicking here. In a future article I will feature the work of the Associação Brasil Huntington.)