Fear not, Huntington’s disease families – Pope Francis has our backs

In just a few hours, at a historic meeting at the Vatican, Pope Francis will offer words of encouragement to the Huntington’s disease community, aiming to make this deadly, incurable neurological disorder “hidden no more.”

Francis is scheduled to arrive at the Paul VI Audience Hall, just a few yards from St. Peter’s Basilica in Vatican City, at 11 a.m. Rome time.

The organizers of “HDdennomore, Pope Francis’s Special Audience with the Huntington’s Disease Community in Solidarity with South America,” have enlisted the pope’s leadership in removing the shame and stigma associated with HD.

The event will be streamed lived in English at www.HDdennomore.com and on the Vatican’s YouTube channel, www.youtube.com/vatican. (There will also be Vatican broadcasts in Italian, Portuguese, and Spanish.)

(Click here and here for background and details of the event).

A global meeting

The event will focus especially on four impoverished HD families from Argentina, Colombia, and Venezuela. They arrived in Rome on May 15 and have been touring the city, with some experiencing delights such as ice cream for the first time. The president of the Italian Senate gave the families a welcoming speech in the Senate chamber.

More than 30 HD family members have also arrived from Brazil.

Open to the entire HD community, HDdennomore has drawn advocates and supporters from more than 20 countries.

Gene Veritas (aka Kenneth P. Serbin) in St. Peter's Square (family photo)

A commitment to the marginalized

I arrived in Rome with my family late on the night of May 10, feeling great anticipation about the papal audience.

On the plane, I continued reading historian Austen Ivereigh’s biography of Francis, The Great Reformer: Francis and the Making of a Radical Pope.

“Francis’s deep commitment to the poor and marginalized has increased my expectation that he will lift the spirits of the HD community and help pave the way for new and better ways of caring for the HD-stricken and their families,” I reflected in a May 11 Facebook posting. “No matter what our faith, Francis’s words echo the struggle of the HD community to care for our loved ones and to make this disease ‘hidden no more.’”

A graffiti artist's rendition of Pope Francis as Superman (photo by Gene Veritas)

Getting ready for the big moment

We arrived more than a week before the audience in order to become acclimated to Rome and to recover from the nine-hour jet lag between San Diego and Italy. I hope I’ve minimized the risk to my brain.

HDdennomore will start at the moment I would normally be going to bed in California. Huntington’s disease sufferers experience problems with their circadian rhythm, which regulates sleep and other bodily functions. Researchers recommend that HD people and even HD gene carriers like me avoid jet lag and go to sleep around the same time each night.

My wife Regina, daughter Bianca, and I have spent part of the time leisurely touring Rome, a bustling yet highly welcoming city with some of the world’s greatest artistic and archeological treasures, a culinary paradise, and, of course, the seat of world Catholicism. Regina's mother Lourdes has also joined us from Rio de Janeiro.

Now we’re getting ready for the big moment: we will meet Francis personally and hope to share with him our family’s HD struggles.

Regina Serbin (left), Bianca Serbin, Maria de Lourdes Alves Barros (Regina's mother), and Gene Veritas at the Roman Forum (family photo)

Forging important new bonds

This afternoon I visited the Passionist fathers’ monastery, where the Argentine, Colombian, and Venezuelan HD families are lodging, as well as some of the Brazilians.

After greetings and introductions, I met with Associação Brasil Huntington (ABH) president Vita Aguiar de Oliveira and several HD families to answer questions about the historic Ionis Pharmaceuticals gene-silencing clinical trial. We discussed the difficult challenges facing HD families such as genetic testing.

We also began planning for ways to take advantage of the “onda do papa,” the “papal wave” of publicity and renewed advocacy hopefully to be initiated by the audience with Francis.

One of the participants, Samila Cristina, pointed out the importance of a network of support in families’ efforts to cope with HD. (Her family won an ABH drawing that provided a patient and caregiver with airfare to Rome.)

Indeed, after the 90-minute encounter I felt as if I had attended my local HD support group in San Diego: once again I recalled the fact that I carry the deadly HD gene, but I also felt strength from the new bonds forged with these fellow members of the extended HD family.

Afterwords Samila’s HD-afflicted mother Teresinha presented me with two ABH/HDdennomore t-shirts.

Above, Gene Veritas (in green shirt) and the Brazilian HD families at the Passionist fathers monastery. Below, Teresinha presents Gene Veritas with an ABH/HDdennomore t-shirt (personal photos).

Entering the spotlight, inspiring the world

As the moment approaches for the HD community to enter the world spotlight, it’s time to overcome the fear that has blocked our community from coping with and finding the cure to HD.

“We face a myriad of challenges, including genetic testing, family planning, family tensions, shame, the devastating symptoms, and the huge caregiving burden,” I wrote in a May 15 Facebook posting. “Be not afraid! Pope Francis has our backs! HD must be ‘hidden no more!’”

With so many unable to attend because of the distance, cost, and challenges of HD, I am enormously privileged to have been invited to the audience.

On Facebook, I also recalled how another, non-HD-related health crisis in our family in late April nearly led me to cancel our trip.

As that crisis was successfully resolved, I was reminded of the many other people suffering from difficult diseases, including genetic disorders. My family and I will take a small religious keepsake to the papal audience for the friend of a friend in the U.S., a young woman who suffers from two rare genetic disorders.

Indeed, I hope that Pope Francis’s gesture to the Huntington’s community can inspire those suffering from all diseases to strive for a world where care and cure trump stigma and, perhaps even worse, indifference.

(My trip to Rome was made possible by the College of Arts and Sciences, the Frances G. Harpst Center for Catholic Thought and Culture, the International Center, and the Department of History of the University of San Diego. I am grateful for the institutional and moral support of my colleagues and students.)

Reinforcing the global fight against Huntington’s disease: a visit to Brazil and a reminder of our common struggles

The global cooperation necessary to defeat Huntington’s disease requires the bridging of cultural divides. It entails recognition of each country’s unique needs and contributions – but also of the common struggles involved.

With this in mind, last month I embarked on another phase of my own international advocacy by traveling to Brazil, the country I have studied since 1986, to deliver a speech on HD and build new connections for the cause.

The world’s fifth most populous country, with over 190 million people, Brazil occupies a significant place on the world’s HD map. Perhaps 19,000-plus Brazilians suffer from the disease, and tens of thousands are at risk.

Thus, once the global HD clinical trial and research study platform known as Enroll-HD gets under way in Brazil, the country’s potential contributions to the search for effective treatments will increase substantially (click here to read more).

A ‘bi-cultural’ perspective

As I have done almost every year over the past three decades, I visited Brazil primarily to work on my ongoing research in Brazilian history. In all, I have spent nearly seven years there. In 1991, during my Ph.D. research in Rio de Janeiro, I met my wife Regina.

Brazil is my second home. I refer to myself as “bi-cultural.”

Even before I joined the board of the San Diego chapter of the Huntington’s Disease Society of America in 1998, I established contact with Brazilian HD activists who founded the Associação Brasil Huntington (ABH) in 1997.

As a carrier of the HD genetic defect, I spoke in 2013 about my personal strategies for avoiding onset of symptoms at the sixth World Congress on Huntington’s Disease, held in Rio (click here and here to read more).

Gene Veritas (aka Kenneth Serbin) at Ipanema beach in Rio de Janeiro (photo by Regina Serbin)

Combating genetic discrimination

During this most recent trip, I advocated for HD-related issues in my meetings with political leaders.

In 2005, the Brazilian Senate passed a bill protecting citizens against genetic discrimination. However, the Câmara dos Deputados (the House of Representatives), has yet to take up the matter. Until then, the bill cannot become law.

Senator Aloysio Nunes Ferreira Filho, who ran for vice president in the 2014 election on the losing ticket of the opposition Brazilian Social Democracy Party, supports the legislation. During my visit to his office in Brasília, the capital, he phoned a colleague in the Câmara to urge action on the bill.

Senator Aloysio Nunes Ferreira Filho (above, photo by Gene Veritas) and Gene Veritas in the chamber of the Senado Federal in Brasília (below, photo by Lucas Souza) 

Defending the rights of the disabled

Later, in São Paulo, South America’s largest industrial and financial hub, I attended a presentation by the famous liberation theologian Leonardo Boff about the geopolitical state of the world, the threat to the global environment, and the current political crisis in Brazil.

The event was moderated by Paulo de Tarso Vannuchi, who served as Minister of the Special Secretariat for Human Rights from 2005-2011 in the government of the ruling Workers’ Party.

Vannuchi briefly introduced me to leaders of the National Council for the Rights of the Disabled. I committed to furnish them with information about HD and put them in touch with the ABH.

Vannuchi told the audience of 60, which included clergy and grassroots social activists, of my HD advocacy and suggested that the reporters present interview me.

Paulo Vannuchi, former Minister of the Special Secretariat for Human Rights (photo by Gene Veritas)

That same day I gave an interview to the TVT television outlet commenting on the importance of Boff’s speech. (You can see the report on the event, including my commentary, by clicking here).

Shortly after my return from Brazil on July 22, one of the reporters present at the event, São Paulo-based radio broadcaster Marilu Cabañas, interviewed me via phone about HD for her program. Shocked to hear of police detentions of HD-affected individuals in both Brazil and the U.S. because of ignorance about the disease, she headlined her report with that fact.

Bioethical challenges

I gave my speech, “Huntington’s Disease, Bioethics, and the Promise of Biotechnology,” on July 20 at the Universidade Candido Mendes (UCAM) in downtown Rio de Janeiro.

I have known the rector, Candido Mendes, for more than 20 years. My friends and colleagues, UCAM Professor Luiz Alberto Gómez de Souza and his wife Lúcia Ribeiro, both leading scholars and grassroots activists of the Catholic Church, organized the event. (Brazil is the world’s largest Catholic country.)

During my hour-long presentation in Portuguese, I recalled my family’s long fight against HD, beginning with my mother’s diagnosis in 1995, followed by positive test for the genetic defect in 1999 and the wrenching experience of testing our daughter Bianca in the womb in early 2000.

I felt deep relief after showing the audience pictures of our HD-free “miracle baby” in action as a youth soccer player. I spoke of the “double luck” we currently savor: Bianca will never face the terrible threat of juvenile HD, and I remain symptom-free despite having long passed my mother’s age of onset.

“At 55, my mother […] could no longer drive, she couldn’t work, she couldn't talk,” I said. “By a huge stroke of luck, I am healthy. Each day is a blessing.”

However, I also pointed to the many other bioethical challenges faced by HD families, including discrimination, family and caregiver stress, financial burden, and the lack of adequate facilities and caregiving personnel for late-stage patients.

The room became very quiet as I related how Carol Carr (of Georgia) in 2002 took a gun to the nursing home where her two HD-stricken sons lay helpless in bed and shot them dead to prevent further suffering. Carr spent nearly two years in prison.

“That was extremely sad for our community,” I recalled. “Huntington’s disease is not something easy to speak about.” 

With no effective treatments, such was the degree of hopelessness that has plagued the HD community, I had pointed out earlier.

The hope of clinical trials

“But I came to Brazil not to speak just about sadness,” I continued. “I also came to speak about hope and the promise of biotechnological research.”

The scenario for the HD community has changing radically in recent years with major advances in research and the advent of clinical trials to test potential remedies, I said.

I spoke of the immense potential revealed in the announcement last year of the gene-silencing clinical trial by Isis Pharmaceuticals, Inc. Citing an e-mail from Isis executive Frank Bennett, Ph.D., received the day before the presentation, I confirmed that the trial would start by year’s end.

(Indeed, the morning after my talk, Isis officially announced that it had commenced the trial.)

You can view my talk in the video below.

A Doença de Huntington, a Bioética e a Promessa da Biotecnologia from Gene Veritas on Vimeo.

A local commitment to the cause

During the Q & A, several Brazilian HD-affected individuals and caregivers spoke of their many struggles with the disease.

They also expressed excitement about the Isis clinical trial.

Carmen Paiva, Ph.D., spoke of her lab’s work in HD genetic and epidemiological research among Brazilian HD families. She told the audience of other local researchers and physicians focusing on the disease.

Recognizing common struggles

At the close of the session, Prof. Gómez de Souza evoked a key point of my presentation: the interconnectedness of neurological disease research and the common struggles of the afflicted.

He spoke with profound emotion about his brother, the renowned actor Paulo José Gómez de Souza, who has suffered from Parkinson’s disease for more than two decades but has successfully strived to continue working.

The struggles are shared among diseases – and among nations.

I look forward to celebrating with my Brazilian relatives and friends the defeat of HD, Parkinson's, and other neurological disorders as a result of a truly global effort.

Reaching out to the ‘HD family’ at the World Congress on Huntington’s Disease

As I returned on the plane from Brazil and the sixth World Congress on Huntington’s Disease, held September 15-18 in Rio de Janeiro, I was thrilled about my fortified connections to the emerging global movement to defeat HD.

I greatly expanded my contacts within the Brazilian HD community, which had the largest representation of HD family members, with more than 60 attendees.

After months of frequent contact via e-mail, phone, and Skype, I was delighted to meet in person Taíse Cadore, the president of the Associação Brasil Huntington (ABH), and neurologist Francisco Cardoso, M.D., Ph.D., two key organizers of the event. Along with Dr. Mônica Santoro Haddad, Cadore, Cardoso, and I have worked to raise the profile of HD in Brazil and to involve the government in improving the care provided to patients.

ABH volunteers helped put on the congress, staffed an information table, and attended many of the scientific and HD-family-oriented activities. Along with the organizing committee and many other Brazilians contributing to the event, the ABH volunteers made the congress a success.

In the coming days, I will prepare a comprehensive report on the congress, including a video of my presentation on coping strategies for living with the HD gene, plus many of the other presentations.

Taíse Cadore (photo by Gene Veritas)

Gene Veritas with (from left to right) ABH volunteers Carmen Faccio, Maria Eni Souza, Carmen Varalta, Majida, and Tereza Portigliotti and Zulay Final Romero of the Venezuelan HD association. The t-shirts say "embrace this cause." 

Cramming in activities

For now, I am focusing on the transition from the cultural environment of Brazil – my “other home” – back to my life in San Diego.

International journeys require intense, detailed preparation. This one proved especially demanding.

After a 25-year stretch in which I visited Brazil annually, including long periods living there, I declined to travel there in 2011 and 2012. Those years my time was taken up by my increasingly public HD advocacy and my added focus on the history of science, technology, and medicine in the context of the Huntington’s movement. The trip felt like a whirlwind: it included the congress, four presentations, other Brazil-related research, and visits with relatives and friends crammed into just ten days.

It didn’t help matters that my connection to Rio was delayed some 13 hours, obliging me to spend the early morning of September 13 sleeping on a cot in the Dallas-Fort Worth airport. The trip to Rio wound up taking 30 hours!

A life-affirming quest

This was not just another of my expeditions to Brazil.

Once again, I was on a mission to help defeat Huntington’s disease, the condition that, unless a treatment comes soon, will relentlessly attack my brain. In addition to helping with advocacy in Brazil and planning a bit of the congress, I spent more than 30 hours preparing the speeches I would deliver in Brazil.

The day before I left the U.S., I gave a 90-minute Skype interview to journalist Marcelo Leite, who published an article in the Folha de S. Paulo titled “‘It’s necessary to pass laws against genetic discrimination,’ says historian.”

The ABH circulated copies of the article at the congress. A radio reporter who had seen the article interviewed me and others. Senator Aloysio Nunes Ferreira, one of three senators representing the state of São Paulo, Brazil’s most populous and economically powerful state, wrote me a personal e-mail pledging to push for passage of such legislation in Brazil’s Congresso Nacional.

I felt a deeply visceral satisfaction meeting with so many of the HD movement’s advocates. It was emotionally wrenching to see people with HD and hear the affected, gene carriers, at-risk, and caregivers tell their stories.

Hugging my fellow “HD family” members from far-off lands or shaking their hands joined us in a lifelong, life-affirming quest.

Gene Veritas with actress and ABH volunteer Luiza Portigliotti 

Gene Veritas with Carlos and Eliezé Adriani of Campinas, Brazil

Stark challenges, seeking advice

One woman, a middle-aged dentist from Rio in the early stages of HD but still completely lucid, wanted to know about supplements and other remedies that I take.

The mother of Priscila, a 31-year-old Rio woman with pronounced chorea, the involuntary, dance-like movements produced by HD, asked how she might get her daughter into a clinical trial for the HD “vaccine” they heard was in development in California. The newspaper O Estado de S. Paulo featured Priscila and her family in an article about the world congress and HD.

Priscila's mom was referring to the gene-silencing approach at Carlsbad-headquartered Isis Pharmaceuticals, Inc., which, along with pharmaceutical giant Roche, hopes to start Phase I of the trial by the end of 2014. I explained that Isis and Roche had not yet announced the trial sites and suggested that she and her family should keep abreast of news on the project.

Others shared with me their stories of testing positive for the gene, the stark challenges of family planning, and learning that a potential future mate is at risk.

Priscila, a 31-year old Rio resident who suffers from HD (photo courtesy of O Estado de S. Paulo)

Priscila on the beach in Rio (photo courtesy of O Estado de S. Paulo)

In sync with the movement

During this trip, I reached many milestones.

I felt fully in sync with the HD movement, its values, and its supporters, as I took 13 congress participants and leading HD researchers to my favorite Rio steakhouse and bar; for the first time met Nancy Wexler, the dean of HD scientists; and delivered my speech on HD and bioethics and engaging with the emotion-charged audience at a college in São Paulo on September 21.

As waiter serves steak, Gene Veritas (right) converses with HD specialist Dr. Ed Wild, global HD advocate Charles Sabine, and HD drug-hunter Dr. Doug Macdonald at Café Lamas in Rio de Janeiro (photo by Alice Wexler).

I felt vindicated in my decision to go fully public about HD late last year and meld my professional and personal lives with my advocacy.

I smiled and got a warm feeling inside as I spoke of this big transition in my life with a long-time Brazilian friend and professional colleague.

As she observed, I was doing the right thing.

Gene Veritas (aka Kenneth P. Serbin) in Rio (photo by Tim Power)

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.)