Ten years out of the terrible and lonely Huntington’s disease closet, as new research and investments offer hope for treatments

 

Ten years ago this month, I exited the “terrible and lonely Huntington’s disease closet” by publishing an essay on my plight and advocacy as an HD gene carrier in The Chronicle of Higher Education.

 

Fortunately, asymptomatic as I near 63, I continue to teach, research the history of the HD cause, and enjoy family milestones such as my gene-negative daughter Bianca’s graduation from college and my wife Regina’s and my 30th anniversary celebration – events that I feared HD would prevent me from appreciating.

 

As we approach Thanksgiving, my favorite holiday, I feel a profound gratitude to my family, friends, and colleagues at work and in the HD cause.

 

So I want to reflect on my journey since exiting the closet. I also want to report on new paths of research that could offer hope for what we in the HD community (and beyond) desperately await: effective therapies (treatments).

 

Becoming a more effective – and convincing – advocate

 

I started this blog in January 2005 under the pseudonym Gene Veritas. Having told my family’s story using my real name (Kenneth P. Serbin) in a widely read publication has enabled me to become a more effective – and convincing – advocate. I could now speak with full transparency about HD, provide an example for others still hiding in the closet, and build new partners in the fight to raise awareness and funds.

 

Before exiting the closet, I was sheepish about fundraising and other aspects of my advocacy, restricting my efforts to relatives and close friends who knew about my family’s struggles. After my exit, I became more self-assured.

 

In 2013, the Serbin Family Team in the annual Hope Walk of the Huntington’s Disease Society of America (HDSA) became the top fundraiser nationwide, taking in more than $16,000 in donations from dozens of generous supporters.

 

Collaborating with work colleagues

 

I most feared the consequences of revealing my story at my workplace, the University of San Diego (USD), because of concerns about discrimination. I knew HD gene carriers had been fired by their employers. My USD colleagues were shocked by my revelation.

 

However, those colleagues ultimately showed great solidarity. By advocating about HD at work, I attracted new allies, boosted awareness, and served as a bridge to resources for those facing HD (click here to read more).

 

My advocacy reached a milestone in May 2017, when I traveled with my family to Rome to help represent the U.S. HD community at HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America. My trip was sponsored by several USD units, including the Frances G. Harpst Center for Catholic Thought and Culture, directed by Jeffrey Burns, Ph.D. Later that year, the center hosted a talk by me exploring the social, scientific, and religious meaning of this extraordinary the papal event.

 

Francis became the first world leader to recognize HD, declaring that it should be “hidden no more.”

 

 

Business card of Kenneth P. Serbin (aka Gene Veritas) shared at scientific conferences and with anyone interested in learning about the HD cause (photo by Gene Veritas)

 

In early 2020, before the coronavirus pandemic exploded in the U.S., Dr. Burns and I collaborated in a screening at USD of the short documentary Dancing at the Vatican, which features HDdennomore. In late 2020 I helped promote the launch of the film online.

 

This year, I fulfilled one of the long-term goals outlined in my 2012 coming-out essay: shifting my academic focus from my beloved Brazil to the history of the quest for HD therapies.

 

With support from USD and The Griffin Foundation, I submitted the project for funding to the National Science Foundation. Although I was not granted funding initially, the foundation’s program officers encouraged me to reapply.

 

PTC’s helpful infusion of new capital

 

We all anxiously await effective therapies. Over the past ten years, I have increased my attention to the intensification of the efforts by labs and biopharma companies to achieve success.

 

The last several years of such efforts have felt like an emotional roller coaster for the HD community, though that’s not unusual for a difficult endeavor like drug development, which involves both positive and negative clinical trial results and cumulative learning.

 

Last month, I reported on the abrupt shutdown of the firm Triplet Therapeutics, Inc., which had explored a much-awaited proposed therapy. I also noted that the U.S. Food and Drug Administration (FDA) had requested that PTC Therapeutics, Inc., provide further information before allowing a clinical trial of its HD drug, PTC518.

 

But there was also potential good news.

 

Despite the FDA-imposed delay in a U.S. trial, PTC has reached a financing deal with the investment firm Blackstone, based on PTC’s plans to expand its drug pipelines to other diseases. The deal, which in the best-case scenario could infuse $1 billion of investment, puts “PTC in a strong position to continue to execute our mission,” Emily Hill, PTC’s chief financial officer, stated in an October 27 press release.

 

PTC518, a so-called splicing molecule, is also classified as a small molecule drug. It is thus taken as a pill – in contrast with riskier, less convenient delivery methods used by other HD programs, which include brain surgery and spinal injections. Early next year, PTC will furnish an update on the PTC518 trial. The trial continues in several European countries and Australia.

 

Roche diversifies its approach

 

In March 2021, Roche reported disappointing news: its gene silencing drug tominersen (an antisense oligonucleotide, or ASO) failed to improve symptoms in volunteers in the firm’s GENERATION HD1 Phase 3 (large-scale testing of effectiveness and safety) trial. This September, Roche announced GENERATION HD2, a less ambitious, Phase 2 (effectiveness, dosage, and safety) retesting of tominersen to start in early 2023.

 

In its presentation of GENERATION HD2 at the annual Huntington Study Group annual meeting in Tampa, FL, on November 3, Roche revealed that it has expanded its pursuit of HD therapies by embarking on two preclinical (nonhuman) projects.

 

Whereas tominersen targeted both the normal and abnormal (expanded) huntingtin gene, Roche will now seek to develop a drug that aims at just the abnormal gene. (Wave Life Sciences already reported in September that it had successfully targeted the abnormal gene in an early stage clinical trial, although yet without evidence of impacting symptoms.)

 

Like PTC’s program, Roche’s second preclinical program will aim at developing a splice modifier that would be taken orally.

 

“The medical need in the HD community is clear and we recognize that a range of different therapeutic approaches are likely to be required,” Mai-Lise Nguyen, of Roche’s Global Patient Partnership, Rare Diseases, wrote me in a November 3 e-mail.

 

 

A slide from the Roche presentation at the 2022 Huntington Study Group meeting illustrating the firm's three approaches to attacking Huntington's disease (slide courtesy of Roche)

 

Another ten years?

 

After the major disappointment in the shutdown of Triplet, I was heartened to learn of Blackstone’s massive investment in PTC, which indicates that both firms see PTC’s potential treatments as viable and profitable.

 

I was also encouraged to see how Roche, in the words of its Huntington Study Group presentation (see photo below), has augmented its HD research portfolio, reflecting a “commitment to advance scientific understanding and drug development in HD through continued collaborations” with HD organizations.

 

With the ingenuity of HD scientists and the dedication of HD family members to participation in research, the march towards potential therapies continues. I hope to chronicle continuing progress over the coming years not only free of the “HD closet,” but, thanks to new therapies, free of significant HD impacts, as well.

 

A slide from the Roche presentation demonstrating the commitment and collaborations involved in the quest for HD therapies (slide courtesy of Roche)

My arduous, lucky, and enlightening journey since my mother’s death from Huntington’s disease 15 years ago

 

February 13, 2021, will mark fifteen years since my mother Carol Serbin died in 2006 after a two-decade fight against Huntington’s disease. She was 68.

 

Recalling her struggles and taking stock of my own predicament as an HD gene carrier have stirred me to reflect on my arduous, lucky, and enlightening journey since her death. Greater maturity and experience have also afforded me a deeper perspective on the HD cause as a whole.

 

My mother was diagnosed with HD in 1995, just two years after the discovery of the huntingtin gene. That breakthrough permitted the development of a genetic test confirming passage of the disease from one generation to the next. However, in retrospect, her symptoms probably had begun in the late 1980s, when she was in her late 40s.

 

The arduous years

 

Given Carol’s inexorable physical, cognitive, and emotional decline and the lack of treatments, in July 2005 my “HD warrior” caregiver father Paul Serbin sadly concluded that she needed 24/7 care in a nursing home.

 

Her move to the nursing facility greatly eased the caregiving burden on my father, although he faithfully visited her daily, still spoon-feeding her as he had done at home.

 

It also freed him to travel from their home state of Ohio to spend Thanksgiving of 2005 with my wife Regina, our five-year-old daughter Bianca, and me at our place in San Diego.

 

“I didn’t know how much I loved your mother until these past few years, taking care of her and seeing how much she has lost,” my usually stoic father confided in me.

 

Paul Serbin pushing Carol Serbin in wheelchair (photo by Gene Veritas, aka Kenneth P. Serbin)

 

From my standpoint, my mother was descending into an HD hell. Psychologically, this became the roughest period of my life. Not only was she was dying. I, too, had tested positive for the HD gene in 1999, so watching her decline was like “looking into the genetic mirror” that reflected my own future.

 

After my mother steadily lost the ability to swallow, in January 2006 I helped my father make the wrenching decision not to approve a feeding tube, which would at best have prolonged her physical life but left her bedridden, unable to communicate.

 

On the weekend of January 28-29, 2006, with my mother in hospice care at the nursing home, I flew to Ohio to visit her for what I knew could be the last time. With almost indescribable emotion, I said good-bye to my mother and, once again, gazed into the genetic mirror. This time it revealed a practically lifeless individual, barely able to move and unable to speak (click here to read more).

 

After that visit, and then learning that she had died in her sleep the morning of Monday, February 13, 2006, I felt utterly distraught about my gene-positive status.

 

In the months after her passing, I felt so terrified about getting HD that I began to act out some of the disease’s physical symptoms in front of my wife and daughter. I could not write anything in this blog for eight months.

 

My father, suffering his own severe cognitive loss likely accelerated by the loss of his wife, died on September 25, 2009, with a broken heart.

 

Tons of luck, and some positive strategies

 

I have now been without parents so long that memories of them feel like a distant past.

 

At 61, still without any apparent symptoms of HD, I feel extremely lucky. Each moment of good health is a blessing.

 

I have practiced personal and social enrichment, which scientists have recommended.

 

I have the benefit of a stable, good-paying job. Also, as the centrality of my parents faded, my roles as husband and father became paramount. Bianca became the center of our lives. Regina’s and Bianca’s love and support have proved crucial.

 

Also, because Bianca tested negative for HD in the womb, we have averted enormous health, financial, and psychological burdens (click here to read more).

 

The Serbin Family Team of the 2014 HDSA-San Diego Team Hope Walk: from left to right, Dory Bertics, Bianca Serbin, Jane Rappoport, Gary Boggs, Yi Sun, Kenneth Serbin, Regina Serbin, and Allan Rappoport (photo by Bob Walker)

 

I also exercise regularly, meditate daily, take medications to control depression and anxiety, and have a solid, long-term relationship with a psychotherapist.

 

I cannot be sure whether any of these things have staved off HD, but they generally bolster health.

 

Significantly, scientists have discovered very powerful explanations for why I am might have stayed asymptomatic so long: genetic factors, including modifier genes, that delay disease onset.

 

Gaining enlightenment about HD

 

Becoming enlightened about HD research and building bonds with scientists have reinforced both my advocacy and personal enrichment.

 

As a college professor, HD advocate, and explainer of the science ­– both in this blog and in interviews with researchers – I have had a privileged window on the quest for treatments. I have thoroughly enjoyed this work.

 

Moreover, I have gained great satisfaction in encouraging HD families to participate in research studies, platforms like Enroll-HD, and clinical trials.

 

Witnessing the progress towards treatments has also boosted my hope to participate someday in an HD clinical trial and, ultimately, enjoy the benefits of the first wave of effective treatments.

 

Overall, I believe that becoming enlightened about HD has helped me become a better person.

 

Pride

 

My devout Catholic parents – when I was a child, my father especially had hoped that I would become a priest – would have been especially proud of my family’s participation in #HDdennomore, Pope Francis’ special audience with the Huntington’s community in Rome in May 2017.

 

The pope declared HD to be “hidden no more” from the world.

 

I presented Pope Francis with a framed photo of my parents, well-dressed and smiling in a formal pose, taken after my mother had already been diagnosed with HD.

 

“My mother died of Huntington’s,” I told the Pope in his native tongue of Spanish. “My father cared for her for 20 years.”

 

In September 2017, I gave a presentation on #HDdennomore at my workplace, the University of San Diego. In February 2020, just before the COVID-19 crisis hit, I organized a screening of the poignant documentary on the papal audience, Dancing at the Vatican. It was well-attended by members of the local HD community.

 

Pope Francis displayed great love and mercy for our community.

 

Photo of Paul and Carol Serbin presented to Pope Francis by Kenneth Serbin, May 18, 2017. Photo taken shortly after Carol's diagnosis for Huntington's disease in 1995 (family photo).

 

Tributes, and imagining a world without HD

 

In many ways, since its inception sixteen years ago in January 2005, this blog has paid tribute to my parents. I have also honored the lives of other HD-affected people who valiantly fought against the disease such as Steve Topper and Harriet Hartl.

 

In these years since my mother’s departure, I have often wondered what our lives would have been like without the scourge of HD. This April 30, my mother would have turned 84 – within a plausible lifespan nowadays.

 

How wonderful it would have been had my mother – who could not interact with Bianca as a baby and toddler – been able to see her granddaughter reach college and to see Regina and me next year mark 30 years of marriage.

 

I can forge the greatest of tributes to my parents by continuing to nurture my health and hopefully secure a longer life so that I can grow old with Regina and see Bianca go out into the world.

 

When we learned of my mother’s diagnosis in 1995, there was no real hope of an HD treatment. However, since her death, research and the advent of clinical trials have brought unprecedented hope. As we’ve seen in response to the coronavirus pandemic, science can make great strides.

 

In unison with others, I can honor my parents by renewing the fight for Huntington's treatments so that thousands of families around the world can be freed from witnessing loved ones die early deaths.

After a horrid year, free streaming of ‘Dancing at the Vatican’ is an inspirational gift and a call to aid Huntington’s disease families

Dancing at the Vatican, the 38-minute documentary featuring South American Huntington’s disease-afflicted families’ remarkable 2017 encounter with Pope Francis at the Vatican, will be streamed indefinitely on YouTube for free starting December 1.

“The film has a distinct Christmas theme – the surprise invitations to the HD families in Latin America all arrived on the Epiphany,” wrote Dancing at the Vatican producer and narrator Charles Sabine in a recent e-mail to me, referring to the Catholic feast day, January 6, on which the HD families in South America received the official invitations to meet the pope. “So, I am going to be encouraging people to regard this as an inspirational gift at the end of a pretty horrid year.”

 

HD families from Colombia, Venezuela, and the pope’s homeland, Argentina, had met with the pontiff at #HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America (click here to read more). Some 1,500 HD family members and their supporters – including my family and me – attended from around the world.

 

For the first time, a world leader had recognized Huntington’s disease.

 

Pope Francis with HD families in Rome, May 18, 2017 (photo by #HDdennomore)

 

Online starting December 1

 

Starting December 1, you can watch Dancing at the Vatican by clicking here. Also, the English-language film now has versions with subtitles in French, German, Italian, Portuguese, and Spanish.

 

The producers request that people click on the “subscribe” button on YouTube and leave comments on the film to help facilitate tracking of its viewings and to further support the HD cause. In the spirit of a heartwarming holiday gift, they also ask that viewers share the video with at least two people who have not heard about HD before.

 

According to Ignacio Muñoz-Sanjuán, Ph.D., a leading HD researcher and a co-organizer of #HDdennomore along with Sabine, the papal audience brought “critical” recognition to HD families living in “extremely vulnerable conditions.”

 

“This has touched them and their communities in many ways,” Dr. Muñoz wrote me. “But their plight continues, and the documentary should be a call to action to help those in most need, regardless of where they live in the world.”

 

In the spirit of Dancing at the Vatican, the HD community can come together to “give voice to the voiceless” and raise badly needed funds for local patient associations as well as Factor-H, a nonprofit organization that he co-founded to aid Latin American HD families, Dr. Muñoz added.

 

A message for all faiths and backgrounds

 

Dancing at the Vatican captures key moments of the 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.

 

#HDdennomore was open to people of all faiths and backgrounds, as were the three in-person screenings of Dancing at the Vatican in Los Angeles, London, and San Diego.

 

Sabine and the film’s organizers had hoped to organize additional screenings in the U.S., Europe, and South America.

 

However, the COVID-19 pandemic – which has made 2020 a trying year for all of humanity – forced the organizers to scuttle those plans. Instead, they have focused on the plan to provide free online access to Dancing at the Vatican.

 

Depending on the local impact of the pandemic, some communities might organize in-person screenings, Sabine explained.

 

“For example, in New Zealand, where COVID-19 has been virtually eradicated, there will be screenings in the first week of December in actual full movie theatres,” he noted.

 

Taking on HD families’ suffering

 

Sabine said that the Vatican’s communications department will help promote the online launch. In addition, the producers will promote the film “on all the relevant family organization websites and social media” and also reach out to clinicians, pharmaceutical companies, and nonprofits involved in HD, he said.

 

The screenings and publicity about the online screenings have been sponsored by Roche, Ionis Pharmaceuticals, Inc., Wave Live Sciences, and Takeda.

 

According to Sabine, the film demonstrates that “anything can be achieved if you put together enough people who believe that nothing is impossible.”

 

Also, he suggested, the HD community can use Dancing at the Vatican to promote the cause by “showing that, as Pope Francis said, it is time for HD families to be ‘Hidden No More.’” 

 

Dr. Muñoz pointed out that HD continues to devastate the South American families portrayed in the film. (An upcoming article will update the families’ stories.)

 

The film and the efforts of advocates such as Sabine and Dr. Muñoz echo the words of Pope Francis, who in his speech at #HDdennomore emphasized “what Jesus himself taught us.”

 

“Throughout his ministry, he met many sick people,” Francis stated. “He took on their suffering; he tore down the walls of stigma and of marginalization that prevented so many of them from feeling respected and loved.”

Planning a ‘Dancing at the Vatican’ screening to celebrate the global Huntington’s disease community’s journey

On February 19, the University of San Diego (USD) will host the world’s third screening of Dancing at the Vatican, the short documentary featuring South American Huntington’s disease-afflicted families’ historic 2017 encounter with Pope Francis at the Vatican.

As I noted in my preview before the July 2019 premiere of this 38-minute film in Los Angeles, Dancing at the Vatican captures key moments of those impoverished, disease-stricken families’ journey to their meeting with the Spanish-speaking Francis, the first Latin American pontiff in the Catholic Church’s 2000-year history. It was extraordinary: some had never ventured beyond their home towns; some even lacked birth certificates.

Now, as both an HD advocate and faculty member in USD’s Department of History, I’m helping organize the upcoming screening, and hope many more people will see it. 

Dancing at the Vatican also will be shown in London on February 5. Showings are also confirmed for Washington, D.C., in March (date and place TBA), and at the Huntington’s Disease Youth Organization conference in Glasgow, Scotland, in May. Screenings are under consideration for South America, too. Ultimately, the film will become available online.

In the words of producer and narrator Charles Sabine – like me, a presymptomatic HD gene carrier – coming together to view Dancing at the Vatican is an occasion of “extraordinary celebration” for the Huntington’s community.

An Emmy-award-winning former NBC-TV foreign correspondent, Sabine helped spearhead “HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America.” Both Sabine's father and brother died from HD.

While Dancing at the Vatican captures what I called in my preview “the underside of the HD world” – families dealing simultaneously with one of humanity’s most devastating diseases and severe poverty and discrimination – it also portrays what Sabine described as “happy tales set against the dark canvas of our disease.”

At HDdennomore, and as the film recalls, Francis became the first world leader to recognize this horrible disease. And he declared that it should be “hidden no more.” 

Pope Francis with HD families in Rome, May 18, 2017 (photo by #HDdennomore)

Faith, reason, and advocacy

At USD, the primary sponsor of the screening is Frances G. Harpst Center for Catholic Thought and Culture (CCTC). Along with other USD units, the CCTC co-sponsored my trip to Rome for #HDdennomore, and also my public presentation on the event (click here to watch).

USD is a Catholic university where “faith and reason are compatible in education,” and it “welcomes students, faculty and staff of every faith tradition,” according to its statement on Catholic identity. Indeed, since my arrival in 1993, I’ve faced no restrictions on my research on abortion in Brazil, and have taught students from many religious backgrounds.

I have explored the nexus between faith and reason/science in this blog, including the in-depth article “God, Huntington’s disease and the meaning of life.”

After CCTC Director Jeffrey Burns, Ph.D., read my preview of Dancing at the Vatican last July, he e-mailed me to ask whether we could bring the film to USD. Sabine readily agreed to the idea; he’ll introduce the film and take questions afterwards.

Ignacio Muñoz-Sanjuán, Ph.D., a leading neuroscientist seeking HD treatments at the Los Angeles office of the nonprofit CHDI Foundation, Inc., also will speak. Dr. Muñoz helped organize #HDdennomore. He co-founded Factor-H, which aids Latin America’s poor HD-affected families. Both Sabine and Muñoz will also meet with students and faculty interested in their respective professional fields.

We selected the February 19 date because Sabine, based in London, will join Muñoz and several hundred researchers from around the globe the next week at the CHDI-sponsored 15th Annual HD Therapeutics Conference in nearby Palm Springs, CA. I will also attend.

In planning the screening, I’ve strengthened the bond between advocacy and academic work that USD values and that I began to establish after exiting the terrible and lonely “HD closet” in 2012 (click here to read more).

Dr. Ignacio Muñoz-Sanjuán entering the Vatican with Dilia Oviedo Guillén, a Colombian woman who lost her husband and five children to HD (photo by #HDdennomore)

A free event, with many sponsors

The screening will take place from 6:30-8:30 p.m. in USD’s Manchester Auditorium (located in Manchester Hall) and will be followed by a reception. The event is free and open to the USD community, the local HD and biomedical communities, and the public. Attendees must register at cctc@sandiego.edu or 619-260-7936.

To fund the event, we have secured support from Ionis Pharmaceuticals, Inc., the developer of the gene-silencing drug currently under study in a historic Phase 3 clinical trial by Roche. (Click here for a recent update on the trial.) Ionis is located in Carlsbad, CA, part of the San Diego-area biotech hub, one of the world’s most important. Ionis’ chief scientific officer and HD team leader, Frank Bennett, Ph.D., donated to #HDdennomore.

In addition, Roche’s U.S. subsidiary Genentech will also sponsor the screening. Headquartered in South San Francisco, CA, Genentech also has a facility in Oceanside, just north of San Diego. 

Another local company, Origami Therapeutics, Inc., is supporting the event. It also seeks to develop an HD treatment. It was founded by Beth Hoffman, Ph.D., the former president of the San Diego chapter of the Huntington’s Disease Society of America.

Other USD co-sponsors include the International Center, the Enhanced Student Faculty Interaction Fund, the Humanities Center, the above-mentioned Department of History, the Program in Latin American Studies, and the Department of Communication Studies. The College of Arts and Sciences also has lent its support.

Charles Sabine dancing at the Vatican with #HDdennomore participants (photo by #HDdennomore)

‘All of us standing together’

On January 10, I had a long lunch with George Essig, a well-connected veteran radio ad salesman and former HDSA-San Diego president. Essig’s extended family is affected by HD. As I wrote in a 2014 article, Essig “epitomizes the dedication of the unaffected relative.” (Click here to read more.)

In discussing the screening, we noted that it will be a unique event for the San Diego HD community and its supporters. Over the years, most events – such as galas, marathons, and walks – have focused on raising funds and awareness.

Echoing Sabine, I stressed that this event would be a celebration.

We brainstormed on the meaning of “celebration” for the local HD community – and for the many donors Essig has brought into the cause.

Their support had helped HD “become hidden no more,” he said. 

The screening also will be about “the evolution of the cause,” he added. 

With that in mind, Essig said he would tell supporters that he would be “remiss not to invite you to this celebration.”

The Dancing at the Vatican screening will also celebrate the progress in research, which has advanced thanks to the donors and broad collaboration in the HD community, he noted.

Essig summed it up: the Dancing at the Vatican event will be “all of us standing together and saying: I helped bring a cure to an incurable disease, even if it’s just $10 that I gave.”

(Disclosure: I hold a symbolic amount of Ionis shares.)

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.