Surfing through life with the spirit of aloha

To persevere against neurological diseases such as Huntington’s and the aging we all face, I have learned that it is essential to develop meaning and purpose and perform mental exercise.

 

In May 1997, just seventeen months after learning that my mother had the devastating symptoms of Huntington’s, I confided for the first time in a medical professional who was outside my local support group. Explaining my family’s predicament, I revealed to a physician in Brazil, my second home, that I had a 50-50 chance of having inherited the HD mutation.

 

Thomaz Gollop, M.D., an OB-GYN, knew about the harm caused by genetic disorders such as HD and the enormous potential for psychological trauma involved when a family learned it was at risk: in Brazil he helped pioneer genetic counseling and testing, particularly for families who wanted to conceive.

 

I had gone to interview Dr. Gollop at his São Paulo clinic about abortion, a topic I was researching. Though Brazil, a fervently Catholic country, had outlawed abortion, millions of women found ways to terminate their pregnancies, often in precarious circumstances.

 

The disturbing history of this underground practice provides a cautionary tale for the U.S. as our Supreme Court prepares in June to apparently renounce five decades of protecting legal abortion. An affiliate of the American Society of Human Genetics and member of the American Association for the Advancement of Science, Dr. Gollop has been a leading advocate in Brazil for women’s health and legalization of abortion, emphasizing the medical – as opposed to religious ­– nature of the procedure.

 

I had not yet tested for HD. Because of my risk, my Brazilian wife Regina and I had postponed having children. I saw Dr. Gollop as a shoulder to lean on. I poured out my heart about my mother’s struggles and my fear of becoming like her.

 

Dr. Gollop told me: just keep doing what you like to do until the disease hits.

 

In my journey of risk – I tested positive for the mutation in 1999, followed by our daughter Bianca’s negative test in 2000 – I have frequently reflected on Dr. Gollop’s advice by imagining the simultaneous challenge and beauty encountered by a surfer riding a wave.

 

“Just keep surfing through life!” I tell myself.

 

Celebrating our 30th anniversary in Hawaii

 

During this, Huntington’s Disease Awareness Month, we must recognize the enormous caregiving and financial burdens imposed by HD. As a result, affected families must often relinquish their dreams. Regina and I did not have more children. We gave up buying a vacation condo in Brazil. I turned down an offer of a better job at a research university in another state so that, if I were unable to work, we could rely on Regina’s secure salary and pension from her job as a public school teacher.

 

My risk of becoming disabled means we have focused on saving, to bolster my long-term care insurance policy. So we usually take modest vacations.

 

This year, though, we splurged a bit. To celebrate our 30th wedding anniversary – which I had never expected to reach with the HD-free health I have enjoyed – we traveled to Hawaii for the first time. In late March we visited the islands of Kona (the Big Island) and Oahu.

 

We found Hawaii wondrous with its primordial, balmy setting: we saw molten lava flow in the crater of a volcano and heard a resounding chorus of birds sing at sunset. Along with newlyweds and other couples marking anniversaries, we were called to the stage at a luau to slow dance to a Hawaiian love song in celebration of “ohana,” the Hawaiian word for family.

 

Keeping alive the joy

 

I was introduced to the story of the father of modern surfing, Duke Kahanamoku (1890-1968), a native of the Waikiki neighborhood of Honolulu. A dark-skinned man competing in a world dominated by white athletes and sports officials, Kahanamoku impressed the world by winning gold and silver medals in swimming at the 1912, 1920, and 1924 Olympics.

 

Also active in rowing and water polo, Kahanamoku was one of the greatest athletes of his era. Always around beaches and pools, throughout his life he also saved many people from drowning.

 

I first read about Kahanamoku in a guidebook praising the popular Honolulu restaurant that he owned, Duke’s Waikiki. Powerful local interests had always capitalized on Kahanamoku’s fame to promote Hawaii as a tourist mecca but frequently abandoned him to struggle for economic stability on his own. He opened Duke’s late in life as a way to supplement his income

 

Regina and I visited Duke’s. It has Kahanamoku memorabilia, including one of his large wooden surfboards. Outside the restaurant Regina took a picture of me in front of a giant wall photo of Kahanamoku poised to take a dive.

 

 

Gene Veritas, aka Kenneth P. Serbin, standing in front of photo of Duke Kahanamoku in Honolulu (photo by Regina Serbin)

 

I was intrigued by Kahanamoku. Returning home to San Diego, I wanted to keep alive the joy I had felt in Hawaii. Exploring Hawaiian culture and history, I thought, might build for me new dimensions of meaning and purpose.

 

Surfing king Duke Kahanamoku and aloha

 

I delved into journalist David Davis’ Waterman: The Life and Times of Duke Kahanamoku, the first comprehensive biography of Kahanamoku (and the source of my observations here). By coincidence, the moving documentary Waterman, based on Davis’ book, premiered in theaters in April. I saw it on opening day.

 

In Hawaii Regina and I were frequently greeted with “aloha,” and people used “mahalo” to say “thank you.”

 

As an official greeter of visiting dignitaries (including President John F. Kennedy) and global ambassador for Hawaiian culture, Kahanamoku spent his life spreading the spirit of aloha.

 

Davis writes that Kahanamoku “suffused” visitors “with aloha because he believed that promoting Hawaii was beneficial for fellow Hawaiians.”

 

 

Regina Serbin at Chief's Luau with flowers presented in celebration of our 30th wedding anniversary (photo by Gene Veritas)

 

Kahanamoku printed his personal philosophy on his business card:

 

In Hawaii we greet friends, loved ones or strangers with ALOHA, which means with love. ALOHA is the key word to the universal spirit of real hospitality, which made Hawaii renowned as the world’s center of understanding and fellowship. Try meeting or leaving people with aloha. You’ll be surprised by their reaction. I believe it, and it is my creed.

 

(I have also frequently encountered sincere hospitality in my years of traveling and residing in Brazil and other Latin American countries.)

 

Although highly competitive in athletic contests, Kahanamoku’s embodiment of aloha gained him a reputation as a humble victor and cooperative teammate.

 

He refused to respond to the many racist epithets he endured. He suppressed his feelings when personally attacked or taken advantage of by others so much that he developed ulcers.

 

Nevertheless, with his athletic prowess and aloha, Kahanamoku entered areas of society normally reserved for whites.

 

As Davis observes, “Many years before nonwhite athletes like Joe Louis, Jesse Owens, and Jackie Robinson fought racism with courageous performances, Kahanamoku was a groundbreaking figure who was able to overcome – some would say transcend ­– racism.”

 

The wisdom of a waterman and his people

 

For Native Hawaiians, Kahanamoku’s plight symbolized the unwanted but steamroller-like annexation of the independent nation by the U.S. (in 1893); the adulteration of the environment by settlers from the mainland; the imposition of mainland culture and language on the locals; and, ultimately, the commercialization of society in favor of tourism, plantation agriculture, and the establishment of Hawaii as a major military installation.

 

In the words of another fine documentary, Hawaii is a “stolen paradise.”

 

Not surprisingly, Kahanamoku’s extended family retained no ownership in Duke’s Waikiki, which expanded to include restaurants on two other Hawaiian islands and also in three California coastal cities.

 

Despite this history, Hawaii fortunately has maintained much of its connection to nature and cultural traditions. With aloha and their intimate ties to the land and water, Kahanamoku and his fellow Native Hawaiians (along with natives elsewhere) offer a connection to premodern humanity and the importance of solidarity.

 

That spirit resonates with the fight for human well-being fundamental to the Huntington’s cause. As I tweeted in March, “Fortitude, collaboration of #HuntingtonsDisease movement embody opposite of aggression of war in @Ukraine: caregiving, alleviation of suffering, and harnessing of science for cures. #IStandWithUkraine.”

 

A “waterman,” Kahanamoku felt most at home in the sea, the source of life and the substance inhabiting our inner parts.

 

In a time of global warming, political strife, and warfare, the world has much to learn from the wisdom of aloha and Hawaiians’ immersion in nature.

 

 

Kenneth and Regina Serbin with Waikiki Beach and Diamond Head volcanic cone in the background (family photo)

 

Negotiating the waves of life

 

Modern surfing emerged from Hawaii. The greatest surfer of his time and global popularizer of the activity, Kahanamoku did not see it as a sport. It was about his love for, and relationship with, the sea. And about pure fun.

 

“The best surfer out there is the one having the most fun,” he said. After World War II, with the worldwide explosion in surf culture, competitions, and surfboard technologies, Kahanamoku marveled at ­– and was deeply proud of ­– how it took hold. He did want to see it included in the Olympics, which finally occurred in the 2020 games.

 

I tried surfing once in my 20s but did not pursue it. At 62 and still healthy, and with the example of Kahanamoku, I have thought of perhaps trying again, if I can find a patient instructor!

 

More importantly, Dr. Gollop’s advice rings true: to stave off Huntington’s onset, I need to keep doing what I like ­– including exploring Hawaiian culture and history.

 

The thought of Kahanamoku flawlessly negotiating the waves on his board also reminds me of the need ­– with aloha ­– to find in life “the right balance between striving and chilling.”

 

This week I am balancing my disappointment over a professional roadblock with the joyous celebration of Bianca’s graduation from the University of Pennsylvania.

 

I hope that those of us in the Huntington’s community and beyond can all learn to surf through life like Duke Kahanamoku ­– and always with aloha.

 

Regina (left), Bianca, and Kenneth Serbin during graduation weekend at the University of Pennsylvania in Philadelphia (family photo)

‘Inequality is unsustainable’: a view of the quest for Huntington’s disease treatments from the Global South

(I dedicate this article to the worldwide HD community as we mark Huntington’s Disease Awareness Month in many countries around the planet.)

 

Both the COVID-19 pandemic and the quest for treatments for rare and genetic diseases have laid bare deep social divisions across the world, and it behooves the scientific establishment to help resolve this ethical dilemma, says a leading Brazilian Huntington’s disease clinician.

 

“The world should not be divided between those who have money and those who don’t,” Mônica Santoro Haddad, M.D., a neurologist with 33 years’ practice at the Universidade de São Paulo (USP) School of Medicine, told me in an April 30 Zoom interview about the 16th Annual HD Therapeutics Conference. “The pandemic has already shown us that. This inequality is unsustainable.”

 

Dr. Haddad has assisted HD patients from 600 families at the USP neurology clinic and her private office. A participant in the 2013 Therapeutics Conference in Venice, Italy, and 2014 meeting in Palm Springs, CA, she watched all of this year’s three-day virtual event (April 27-29) online. The conferences are sponsored by CHDI Foundation, Inc.

 

“What we’re witnessing in Brazil [regarding the pandemic] is immoral – Brazil in relationship to the world and Brazil in general,” Dr. Haddad observed, speaking in her native Portuguese. “Two categories of people have been created: those with the vaccine, those without the vaccine.”

 

A South American giant struggles

 

Sadly, Brazil ranks second in the world behind the United States with more than 428,000 COVID-19 deaths.

 

As a history professor, I have dedicated much of my career to the study of Brazil, a country that I consider my second  home; my wife is Brazilian, and her extended family is there. Along the way, I have witnessed the development of the Associação Brasil Huntington and built ties to its leaders.

 

A major country of the Global South – the world’s developing countries – Brazil has an estimated 20,000-plus afflicted individuals and an active HD movement. An enthusiastic group of some 30 Brazilians took part in #HDdennomore, Pope Francis’ special audience with the HD in May 2017. Francis, a native of Argentina, is also the first pontiff from the Global South.

 

However, although Brazil’s medical system has gained international recognition for past vaccine campaigns and its model fight against AIDS, during the pandemic the country has lacked hospital beds, cemetery plots, and basic supplies. Like Donald Trump, Brazilian President Jair Bolsonaro denied the crisis, downplayed the dangers, and actively denounced such measures as mask-wearing.

 

In addition, Brazil has fallen victim to the international inequities in the rollout of vaccines. Both U.S. President Joe Biden and former Brazilian president Luiz Inácio Lula da Silva – a likely candidate in the 2022 presidential election – have backed waiving COVID-19 vaccine patents to assure global access.

 

Brazil’s deep internal disparities have led to inadequate vaccine distribution to the poor and marginalized.

 

Recognizing similar, longstanding neglect in other South American countries, the humanitarian organization Factor-H has continued to assist abandoned HD families during the crisis.

 

Providing everybody access to medicines

 

Echoing her concerns about COVID-19, Dr. Haddad affirmed the need for a “change in the paradigm” regarding rare and genetic diseases like Huntington’s.

 

As in the U.S. and elsewhere, fear and denial frequently underlie Brazilians’ decisions to avoid genetic testing and facing the terrible medical and social challenges posed by the disease. Many Brazilians have “prejudice against disease” in general, Dr. Haddad told me in a 2013 interview.

 

However, the trend against testing might be shifting for the younger generations, and could also change among older groups when the overall outlook for treatments has improved, Dr. Haddad wrote in a May 14 WhatsApp message. Clinical trials seeking presymptomatic HD gene carriers will require testing, she added.

 

Like medical professionals in many countries, Dr. Haddad believes genetic testing is a personal decision, with the procedure governed by established protocol and with professional medical and psychological support.

 

As of April 2021, the Brazilian government has required all private health plans and insurance to cover genetic testing. This represented a “small advance,” Dr. Haddad asserted in our Zoom interview, because health advocates want to see the country’s free public health service also provide that benefit.

 

For Dr. Haddad, for HD to be defeated, inequality must diminish.

 

“The question is: is it ethical to diagnose someone with one of those diseases and not have a treatment available?” Dr. Haddad said. “This is a question that I discuss with my patients and with my colleagues.”

 

She added: “It is certainly not ethical to have a treatment that not everybody has access to.”

 

The HD Therapeutics Conference left her with her “hope battery recharged” and confident that a treatment is possible, Dr. Haddad said.

 

 

Gene Veritas interviewing Dr. Mônica Haddad (screenshot by Gene Veritas, aka Kenneth P. Serbin)

 

Advocating for open science

 

At the close of the conference, Dr. Haddad was inspired by the presentation by featured speaker Aled Edwards, Ph.D., who in 2004 founded the Structural Genomix Consortium (SGC), which practices and advocates for open sharing of scientific information, particularly as it applies to protein science, chemical biology, and drug discovery.

 

Dr. Edwards, the SGC CEO and a scientist based at the University of Toronto, spoke on “HD drug discovery in the public domain – a model for CHDI.” A breath of “fresh air,” Dr. Edwards’ talk pointed the way to reducing inequality, Dr. Haddad told me.

 

“What we would also like to do is develop a drug discovery ecosystem that prioritizes affordability and global access, and, of course, to do this in collaboration with industry,” Dr. Edwards stated. “Now this might sound naïve, but I’d like to emphasize there’s quite a bit of drug discovery experience in the SGC and in our network.”

 

Dr. Edwards presented examples of researchers who have followed the open science model – including 16 “HD open science programs” that share science “as they go,” with some even blogging about their findings. He highlighted the work of Rachel Harding, Ph.D., an SGC researcher and postdoctoral fellow at the University of Toronto who achieved the “very challenging” task of purifying the huntingtin protein to a “resolution that is practically useful” to other scientists.

 

Dr. Harding has widely shared both the protein and reagents (compounds that facilitate chemical reactions) that enable the making of the protein, ultimately aiming to inform the discovery of potential HD drugs, in particular so-called small-molecule drugs, Dr. Edwards explained.

 

Discussed at the Therapeutics Conference, these drugs become distributed very evenly across the whole body, including the brain, whereas several drugs in other current or recently completed clinical trials need to be injected directly into the brain or via spinal tap.

 

“This is a really fantastic contribution to the public good that these folks have made,” Dr. Edwards said of Dr. Harding’s team.

 

Sharing science as they go: Huntington's disease "open science champs" as presented by Dr. Aled Edwards, at upper right (screenshot by Gene Veritas)

 

Seeking more efficient drug discovery

 

Dr. Edwards underscored a key point: despite spending $300 billion globally each year on research and development and producing many hugely successful drugs, the biomedical field is highly inefficient. “We need to do better as a society,” he asserted.

 

“For many diseases – Huntington’s, Parkinson’s, Alzheimer’s – we don’t even know the molecular mechanism of the disease, let alone how to design a therapeutic strategy,” Dr. Edwards said, adding that a system in which the “first past the post gets the money” in designing drugs has required “the pricing of medicines at levels that are unaffordable for most people on the planet.”

 

Dr. Edwards displayed data demonstrating how globally most research focuses on the familiar rather than explore new, potentially crucial areas of biology. Similarly, in industry, companies pursue drugs in parallel rather than collaborate, wasting valuable resources, he added.

 

SGC is working against the grain, trying to create the way for a new scientific culture. The SGC never files for patents “as a core principle,” Dr. Edwards explained. “All of the work we do goes into the public domain, including the reagents that we make.”

 

If labs and companies openly shared data before doing the final crucial test on a potential drug in a Phase 3 trial, the field could not only save money, but test multiple drugs at the same time, he said.

 

Rather than rely on patents, the system should take advantage of federal laws that give companies protection from competition for a fixed period, generally five to twelve years, Dr. Edwards affirmed. The law provides even longer periods for orphan and pediatric drugs.

 

Supporting the public good

 

“There is no law of physics that says industry has to invent a drug,” Dr. Edwards said. “That’s the social system that we’ve put in place. Let’s imagine a different system.”

 

To “walk the walk about open drug discovery,” SGC established the Agora Open Science Trust, a registered charity in Canada modeled on Newman’s Own Foundation, which funnels profits from food products with the picture of the late Academy-Award-Winning actor into philanthropy.

 

Dr. Edwards described its goal: “To support open science and the public good, and price new medicines to ensure global access. Whether you’re a rich American or live in Thailand, you’re going to get the medicine at a price you can afford.”

 

In its first project, Agora has focused on children’s cancers. As of yet the trust has not announced a plan for an HD drug program, although Dr. Edwards and the above-mentioned HD open science researchers have an abiding interest in finding treatments.

 

Indeed, regarding those treatments, Dr. Edwards concluded that “if we do it as a collective, we’ll get further faster.”

 

 

Dr. Aled Edwards explains the creation of for-profit drug companies to fund the Agora Open Science Trust, whose mission is to ensure global, affordable access to new medicines (screenshot by Gene Veritas).

 

Knowledge belongs to the world

 

If Dr. Edwards and SGC achieve their goals, they will have a place in history, Dr. Haddad observed. The emphasis on sharing data will “democratize” knowledge, she added.

 

“It’s obvious that a company does things to earn money,” Dr. Haddad continued. She noted, however, that Dr. Edwards is asking scientists and others to put their vanity aside to help the suffering.

 

Brazil has not yet hosted, and may not host in the future, any sites for the major HD clinical trials, Dr. Haddad pointed out. She noted that the local HD community attempted to bring to Brazil the historic Phase 3 gene silencing clinical trial by Roche, which reported the unfavorable results at the HD Therapeutics Conference. In South America, Roche ran the trial in Argentina and Chile.

 

“We did the paperwork to try to include a Brazilian research center, and because of questions raised by an ethics committee and political and legal issues, we were unsuccessful,” Dr. Haddad explained. “Brazil did not permit genetic material [from the clinical trial] to be sent out of the country.”

 

For now, Dr. Haddad said, Brazilians can at least look forward to the possibility of their government’s authorization of the drug Austedo, approved by the U.S. Food and Drug Administration in 2017 for chorea, the involuntary movements that occur in many HD-affected individuals.

 

At this time, Brazil’s lack of participation in clinical trials of drugs that aim to slow or stop the disease is “not important,” Dr. Haddad concluded. Echoing Dr. Edwards – and the hope of thousands of Brazilian HD families anxiously awaiting the arrival of effective treatments but fearful that the country might not be able to afford them – she added: “The knowledge obtained belongs to the world.”

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.