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)

Staying when the Chargers leave: a leading Huntington’s disease advocate sets a gutsy, loving example

After the San Diego Chargers’ recently announced move to Los Angeles, team public relations director and Huntington’s disease advocate Bill Johnston made a gutsy, loving decision: after 38 years with the Chargers, he will quit so that his HD-afflicted wife Ramona can stay at the highly-regarded San Diego nursing home where’s she spent the last decade.

Bill made his decision after thoroughly researching nursing homes in Orange County, which is much closer to the Chargers’ new Los Angeles headquarters than San Diego County. He visited seven facilities, paying special attention to their ability to conscientiously care for someone with HD. As the HD community is all too painfully aware, such facilities often provide poor care.

Bill did not find what he wanted. He opted for Ramona to remain at Edgemoor Hospital in Santee, located next to San Diego. A public nursing home, Edgemoor has cared for dozens of Huntington’s patients over the past several decades.

“Everybody would make the same decision I am making if they were in my shoes,” Bill told the San Diego Union-Tribune. “It’s just the situation I find myself in.”

Bill awakes at 4:55 a.m. daily and visits Ramona at Edgemoor before heading to work. She was diagnosed with HD in 1999 but had showed symptoms earlier. She is now in the late stages of the disease, confined to a wheelchair and unable to care for herself. The native San Diego couple met in high school and married in 1983.

“She can’t talk anymore, but she’ll make some sounds,” Bill told the Union-Tribune. “Sometimes, I think she’s trying to say my name. Maybe it’s just wishful thinking.”

The Johnston team at the 2014 Rock-n-Roll Marathon raising funds and awareness for the Huntington's Disease Society of America. Bill has his arm around Ramona, in wheelchair. Daughter Hayley stands directly behind Bill (photo by Andrew McClanahan/PhotoRun.net)

‘I’ll always do what I can’

By interrupting his career and staying in San Diego, Bill is rolling with one of the many punches thrown by HD. His son Jared, 31, tested negative for HD. Daughter Hayley, 28, remains untested; she has a 50-50 chance of having inherited the HD genetic defect from Ramona.

Other HD families have adapted their lives dramatically to meet similar challenges. In my family, my mother died of HD, and I carry the gene. Since my mother’s diagnosis in 1995, HD has frequently dominated my family’s life. Fortunately, our daughter tested negative and is today a healthy teenager.

Bill’s situation reminded me of my own. In 2007, in a wrenching, career-changing decision, I turned down a major job offer in Miami to remain in California, a biotech state with crucial public support for stem cell research. California also has HD-involved companies such as Ionis Pharmaceuticals, Inc., which is currently running a historic Phase I clinical trial of a gene-silencing drug. Most important, remaining in California allowed my wife to keep her relatively well-paying teaching job and pension, our financial lifeline if I become disabled.

I had also bonded with Bill and many other members of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego). Through chapter events, Bill and his family have raised nearly $3 million for HDSA. Their leadership and fortitude have inspired people in the local HD community and beyond.

In response to my e-mail query about his plans for future advocacy, Bill wrote: “I’ll always do what I can.”

“Bill has been a ‘tour de force’ in advocating for the HD community in San Diego and nationally,” HDSA-San Diego president Beth Hoffman, Ph.D., wrote in an e-mail. “Bill has tremendous energy and passion, and brings wonderful and new ideas to our fundraising efforts. He’s always been there to drive the chapter’s success. We are thrilled that Bill will remain in San Diego and look forward to expanding our efforts towards the HDSA mission with him.”

“I am not surprised by Bill's decision to stay,” long-time HDSA-San Diego board member Misty Daniel wrote. “His dedication to Ramona and our HD community has never faltered over the years. Bill's decision to stay reaffirms what most HD families know: that family truly is everything.”

Ramona with Chargers star and HDSA supporter Antonio Gates at the 2007 Celebration of Hope Gala (photo by Gene Veritas)

Change means new opportunities

After 56 seasons in San Diego, the Chargers’ departure angered local football fans and civic leaders. “The Los Angeles Judases have betrayed us for 30 pieces of silver,” wrote Union-Tribune sports columnist Nick Canepa, who is also a member of HDSA-San Diego’s advisory board, in reference to the move

The team’s’ exit has also posed a huge challenge for HDSA. Bill’s involvement since 1999 added the team’s high-profile pro-football brand to most major fundraising events, including the chapter's annual gala. For years, HDSA-San Diego board meetings took place at Chargers’ headquarters, and team owner Dean Spanos allowed use of that facility for fundraisers. In 2003, Spanos and his wife Susie received HDSA’s Harold Leventhal Community Service Award at a dinner in New York City.

However, Bill’s decision to remain has helped offset the feelings of desertion resulting from the Chargers’ move. His connections, creativity, and dedication will help the chapter strike out in new directions. As Bill has always made clear, he’s also in this fight for Hayley – and for all families affected by HD.

Bill and Hayley Johnston exchange ideas at an HDSA-San Diego event in May 2016 (photo by Gene Veritas).

Over the years, other chapter members and even Bill himself recognized the danger of relying too heavily on the Chargers. As a result, the chapter has strived to diversify its sponsor and donor base.

The Chargers’ exodus might also provide unforeseen benefits such as distancing HDSA-San Diego from the uncomfortable connection to a sport now linked to brain diseases similar to HD.

“The Chargers organization has been stellar in its support,” Dr. Hoffman wrote, noting the chapter’s gratitude for the players’ “enthusiastic participation” at fundraisers. “We will miss our Chargers.

“That said, the HDSA-San Diego board and all of our wonderful volunteers are hard at work attracting sponsors and making our events even more exciting. Whenever there are changes, there are new opportunities. Our job is to find and leverage these opportunities to their maximum potential.”

At-risk Angels pitcher Joe Smith at Huntington’s fundraiser: ‘I’d give every dime I have for a cure’

No one person is the face of Huntington’s disease the way ALS is associated with Lou Gehrig or Parkinson’s disease is linked with Michael J. Fox. But HD touches many lives, including some we know from major league sports.

Choking back tears, 31-year-old Los Angeles Angels baseball pitcher Joe Smith remembered the phone call three years ago from his father back in his native Ohio that changed his life forever: his mother had been diagnosed with Huntington’s disease.

“Unfortunately, I got a call driving home from our spring training site in Goodyear, Arizona, from my dad,” Joe told an audience of over 400 people at a San Diego fundraiser on October 10. “He told me: mom had HD.”

Then Joe recalled when his mother Lee came on the phone on that day in February 2012, not long after she had received her genetic test results confirming she had HD.

“I’ll never forget the sound of her voice,” he said. “It was just empty. It was the worst. I never heard anything like it. That stayed with me for a long time, that sound, when she said, ‘Hi, Joseph,’ but the way she said it […] was different. And it hurt. It still does, obviously. This time, when she got the news, I still didn’t know a whole lot about HD. But obviously, when you get off the phone with the parents and got a 30-minute drive, there’s a lot of thinking that goes on.”

He’s done a lot of thinking – and action – since then.

For his efforts to raise awareness and funds for the HD cause, Joe received the Guthrie Award of the Huntington’s Disease Society of America (HDSA) at the San Diego chapter’s 15th Annual Celebration of Hope Gala, held this year at the spectacular coastal residence of Craig and Rebecca Irving. Craig is a businessman and philanthropist.

Above, Joe Smith and mother Lee (photo by Gene Veritas, aka Kenneth P. Serbin). Below, Celebration of Hope Gala attendees mingling before the start of dinner and the formal program (photo by Mike Nowak).

Staring HD in the face

Joe remembered his family’s four-hour drives from southern Ohio to Cleveland to visit Lee’s mother, who, the family knew, suffered from HD. Seeing his grandmother’s progressively worsening symptoms at each visit left Joe sad and concerned as a child and teenager.

“I think that’s the scariest part,” Joe continued. “It’s one thing, I think, to go through life, or to have something that not necessarily you don’t know about, but […] my mom took care of my grandma, she went to doctor visits with my grandma, she was on the phone all the time with my grandma.

“When you know the road you’re heading down, and right now there’s nothing that you can do about it, you’re just going. You’re hoping there’s light. You got hope. You got faith. But at the end of the day, right now, there’s no cure.”

Lee did not speak at the gala but talked about her symptoms in a brief video shown to the audience.

“She stares it right in the face every day,” Joe said, referring several times to his mother’s fortitude.

Joe ended his speech with a call to boost fundraising for HD research.

“I’d give every dime I have if they had a cure today,” he declared.

You can watch Joe’s speech in the video below. View other videos of the event by clicking here.

Los Angeles Angels' Joe Smith: 'I'd Give Every Dime I Have for a Cure for Huntington's Disease' from Gene Veritas on Vimeo.

Taking public action

As the children of an HD-affected parent, both Joe and his 29-year-old sister Megan Nein have a 50-50 chance of inheriting the genetic defect.

Joe has previously talked to the press about his fears of living at risk.

“My sister has three kids and she hasn't been tested,” Joe said last March. “I got married recently, and I'll get tested before we have kids.”

He didn’t speak directly about his fears at the gala, but they were palpable throughout his speech.

Both Joe's and HDSA CEO Louise Vetter’s comments once again demonstrated how HD can devastate the extended family because of its genetic cause and difficult caregiving burden.

“It’s not easy to come out and say you’re from an HD family,” Vetter said in introducing Joe. “If one of your parents has it, you don’t know if you have it or not. So it takes a lot of courage to face your future.”

Recalling Woody Guthrie’s widow Marjorie’s founding of HDSA in 1967, the organization recognized Joe with the Guthrie Award because of his “bravery” in confronting HD, she said.

Too often conversations about HD take place “behind closed doors,” Vetter observed.

The Smith family has “made it public and they’ve created a call to action,” she explained.

HDSA CEO Louise Vetter (photo by Mike Nowak)

The community emerging as its own spokesperson

For older generations of Americans, songwriter-activist Guthrie symbolized HD.

In recent decades, with younger generations unacquainted with Guthrie, many in the Huntington’s community have attributed the lack of awareness about HD – ironically one of the most common of the rare diseases – to the lack of a celebrity such as Michael J. Fox in the sphere of Parkinson’s disease.

Without national opinion polling on HD, we can’t really know if this is the case.

What’s important is that more HD family members are telling their stories publicly than ever before, and HD is gaining exposure.

Like 33-year-old filmmaker-actress Marianna Palka, who revealed her HD genetic test results in an HBO film that premiered in June, Joe is emerging as a key new spokesperson for the HD cause.

Two other successful athletes – former Olympic rower Sarah Winckless and former National Hockey League player Jake Dowell – have shared their HD stories.

In June, another, award-winning film, the documentary The Huntington’s Disease Project: Removing the Mask, was released.

Networking for the cause

Joe’s advocacy is helped by the fact that professional baseball maintains a huge fan base.

Joe and his family have started a foundation, Help Cure HD, to raise money for research on deep brain stimulation (DBS) as a potential treatment for HD. (For years doctors have used DBS to treat Parkinson’s disease.) So far Help Cure HD has raised nearly $400,000.

Joe’s wife is Allie LaForce, a TV reporter for CBS Sports. In January, Allie did a feature on Bill Johnston, the public relations director of the National Football League’s San Diego Chargers, and his fight against HD. Bill’s wife Ramona, who has HD, now lives in a nursing home.

The main mover behind the smartly produced HDSA-San Diego galas, Bill has helped raise several million dollars for HDSA through those events and numerous others.

Bill uses his contacts in the upper echelons of business and pro sports to invite speakers like Joe and garner corporate sponsors such as the B. H. Gold Insurance Agency. HDSA also honored B.H. Gold President Bill Habeger with the Guthrie Award for his support of the cause.

“May these galas soon be victory galas,” Habeger told the audience.

HDSA-San Diego President Burt Brigida (left), B.H. Gold President Bill Habeger, HDSA CEO Vetter, and HDSA-San Diego immediate past president George Essig (photo by Mike Nowak)

From the heart, emboldening our community

As they arrived at the gala, I introduced myself to Joe, Lee, Joe’s father Mike, and Tim Mead, the Angels’ vice president for communications.

I told Joe that I was also from Ohio, that my mother had died of HD, and that I carried the genetic defect. I told him that he could rely on the San Diego chapter, HDSA, and me for anything he and his family might need in the struggle against HD.

Lee and I shared a few words about our common Cleveland connection. When she mentioned that she was 56, I said I was right there with her at 55.

At 56, my own mother had the involuntary movements typical in HD and was starting to lose her ability to reason.

Joe (left), Lee, and Mike Smith with Tim Mead, vice president for communications, Los Angeles Angels (photo by Gene Veritas)

I thought of how lucky I was to remain asymptomatic and participate fully in the gala.

After his speech, Joe asked my opinion.

“You hit it right on the mark,” I said. “You spoke from the heart.”

Later, just before the end of the gala, I spoke again with Joe. “We are brothers in this cause,” I said, putting my arm around his shoulder.

Joe raised awareness and money, but most importantly he has emboldened our fellow HD brothers and sisters to join the fight. Having every dime in the world won't bring treatments unless we have enough participants in the all-crucial research studies and clinical trials.

Joe Smith (left) and Gene Veritas (photo by Mike Nowak). Watch more videos of the gala by clicking here.

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.)