‘Tired of waiting,’ Huntington’s disease families engrossed in efforts to conduct clinical trials

The atmosphere in the packed San Diego Huntington’s disease support group meeting room on the evening of October 28 was both somber and electric with anticipation.

Flanked by loved ones, HD-affected individuals struggled with involuntary movements and a hampered ability to communicate, providing stark evidence of the disease’s unrelenting attack on minds and bodies.

For asymptomatic HD gene carriers like me, they represented our future if scientists don’t soon find a way to stop the inevitable, devastating symptoms. I always leave these monthly meetings deeply unsettled and unable to sleep soundly.

At the front of the room, a key player in the effort to develop effective treatments, Jody Corey-Bloom, M.D., Ph.D., explained how the local firm Isis Pharmaceuticals, Inc., had successfully run the first ever safety test of its unique type of drug in patients suffering from a neurological disorder, in this case, amytrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease or motor neuron disease. The results were published in the May 2013 issue of the journal Lancet Neurology. Isis is developing an HD-gene-silencing drug in partnership with the pharmaceutical giant Roche.

“I realize you guys are just tired of waiting (for treatments),” Dr. Corey-Bloom told the audience of some 50 people. “But I think Isis is really in a good position right now (to get their HD drug into a clinical trial)…. They’ve got lots of money, with Roche’s kind of support. I think that they’re feeling comfortable about the fact that they were able to do this.”

None of the ALS trial participants experienced adverse effects from the Isis drug, Dr. Corey-Bloom said.

Although Dr. Corey-Bloom pointed out that the very small dose of the Isis drug, an artificial form of DNA known as an antisense oligonucleotide (ASO), did not affect the ALS symptoms, the evidence from the trial of safety and patients’ tolerance for the drug helped paved the way for additional tests to examine efficacy.

It also set the stage for the planned Isis-Roche HD clinical trial, tentatively scheduled to start sometime in the next 18 months. The project has the support of the CHDI Foundation, Inc., the non-profit virtual biotech firm dedicated to finding treatments for HD. (Click here to read more.)

Surveying the field

The San Diego support group had convened to hear Dr. Corey-Bloom’s annual HD research update, usually the best attended meeting of the year.

The diminutive but tireless neurologist dedicated the first half of her 85-minute presentation to HD research conducted locally, including projects at the unit she directs, the Huntington’s Disease Society of America Center of Excellence for Family Services and Research at the University of California, San Diego. These studies have mainly focused on ways to measure the onset and progression of the disease – essential for gauging the efficacy of drugs tested in clinical trials. (Click here for an example.)

In addition, Dr. Corey-Bloom surveyed some of the clinical trials set to begin soon, including a phase II trial for a phosphodiesterase inhibitor (a kind of “Viagra for the brain”) planned by Omeros Corporation.

Dr. Corey-Bloom also announced that she’s seeking funding from the National Institutes of Health (NIH) to conduct a clinical trial in HD patients of an already widely used non-HD drug shown to increase BDNF (brain derived neurotrophic factor), a kind of “fertilizer” for the brain. HD patients have insufficient BDNF, which could cause cell death in the deep structures of the brain where the disease is thought to begin, she explained.

“I stumbled across it mainly because I was just reading some other things,” said Dr. Corey-Bloom, who declined to identify the drug until funding is in place and the drug’s manufacturer agrees to participate in the research. “I said, ‘Ooh! Wow!’ It’s such a great story. It’s been keeping me up at night thinking about it. We will get it going. First with animals, then with people.”

Her project collaborator is Beth Thomas, Ph.D., of the Scripps Research Institute in San Diego.

You can watch Dr. Corey-Bloom’s presentation and the Q & A in the videos below.

Advances in Huntington's Disease Treatments: A Presentation by Dr. Jody Corey-Bloom (Part I) from Gene Veritas on Vimeo.

Advances in Huntington's Disease Treatments: A Presentation by Dr. Jody Corey-Bloom (Part II) from Gene Veritas on Vimeo.

Comfort and risk versus efficacy

As potentially one of the best treatments for HD because of its genetic approach, the Isis ASOs for HD commanded the most attention from both Dr. Corey-Bloom and the audience.

As Isis and Roche move ever closer to the long-awaited trial – Isis had first hoped to start a Phase I several years ago – crucial questions of drug delivery and dosage have gained increasing attention.

Dr. Corey-Bloom’s observations highlighted a delicate issue: the tensions between patient comfort/risk and drug efficacy.

She identified a key question: will enough of the ASO travel through the cerebral spinal fluid (CSF) from the patient’s back, where Isis plans to introduce the drug via a spinal tap, all the way to the brain?

A certain amount of the CSF naturally travels up the spinal column and over the brain, Dr. Corey-Bloom explained, but some of the ASO medication could be lost along the way.

“I think one of the big issues is how to inject,” she said. “I actually said the last time I was at Isis that they just need to put in an Ommaya reservoir and just inject it that way…. We do lots of chemotherapy for people that have brain cancer or brain infections. We put this little plastic disk into this space at the bottom of the brain [she indicated behind her ear], and then if people need to have anti-fungal medication … or cancer chemotherapies, we inject right into that little bubble, and it goes right into the cerebral spinal fluid.”

Dr. Corey-Bloom said that Isis scientists wanted to avoid the extra risk and cost of the Ommaya insertion, which, although done in just about 15 minutes and with minimal sedation, requires an operating room.

“It’s so much easier to be doing it through a spinal tap in the back than to be doing ‘brain surgery,’ which is what they kept calling it,” she continued, referring to the fact that the spinal tap doesn’t require an operation.

However, she affirmed that opting for the “more involved” Ommaya reservoir could bring better trial results.

“At least we’ll know that the medicine is getting in right up there, as opposed to way down here,” she said, pointing to her back. “If it doesn’t work, or if it doesn’t work as well as it should, we’ll be kind of wondering if maybe should have put it in a lot closer to where we need it to go.”

Proactive families

The support group/physician connection underscores the critical role of proactive patient and family participation in research and clinical trials.

The audience always follows up with questions that focus on the heart of the matter: when and how clinical trials and treatments will bring the promise of ameliorating HD.

Referring to Dr. Corey-Bloom’s discussion of the critical use of MRI scans in HD research, one group member asked whether a similar magnetic force or some electronic structure could be used to “drive” the Isis ASO drug up to the brain.

That’s “really kind of clever,” she responded, noting that she would present the idea to Isis when she meets with company researchers on November 20 to discuss the clinical trial program, including the option of the Ommaya reservoir. Her job, she said, is to bring home the clinical reality of HD to scientists who spend most of their time in the lab.

Future benefits

Dr. Corey-Bloom also will urge Isis to go beyond the standard safety and tolerability measures of a Phase I trial to consider measuring efficacy, too, she added. “They’re going to want to do a Phase I trial that is only safety and tolerability…. I think that misses your opportunity to do exploratory efficacy measures.”

The Food and Drug Administration permits this type of exploratory work in Phase I, she noted.

Isis and Roche could not draw official conclusions from such exploratory data, she said, but it could give the scientists “some idea of what to use” in the potential Phases II and III of the trial and beyond.

Looking to the future could help broaden the application of the drug to people in different stages of HD – including presymptomatic gene carriers like me for whom an effective treatment would prevent onset and ultimately make HD a thing of the past.

The end of fear and exclusion: informing my health insurance plan about the risk of Huntington’s disease

In my nearly two-decade journey with Huntington’s disease, I hid my at-risk status not just from nearly all but my closest confidantes, but also from my health plan.

My warily guarded secret exemplifies the deep-seated fears many in the HD community have about denial or loss of insurance coverage. I regularly read or hear about untested at-risk individuals or gene carriers who worry about this issue.

To protect myself from losing coverage in the event of a job change or another of life’s unforeseen challenges, I instead have relied all these years on the Huntington’s disease clinic at the University of California, San Diego (UCSD) hospital. There I have paid out of my own pocket for consultations and established a medical record completely separate from all my other health records.

As a university professor, I have enjoyed the benefits of group coverage, from which it is at least theoretically more difficult to exclude people who have genetic and/or pre-existing conditions. Nevertheless, I have always erred on the side of absolute security, never knowing what life might bring, especially in the period before I obtained tenure and therefore had some but not total job security.

Over the past two months, however, I have initiated the process of informing my health maintenance organization (HMO) that I carry the mutation for HD.

“This is all so ironic!” I said the other day to my wife Regina, the very first person I had told about HD after learning the day after Christmas 1995 of my mother’s diagnosis and my own risk for inheriting the mutation. “I’m now doing what I've avoided all these years.”

Fearing exclusion, I had not resorted to the very system supposedly designed to help me.

Feeling liberated – again

Once again – as I did in definitively exiting the terrible and lonely “HD closet” on November 4 of last year – I feel liberated.

I began to apprise my HMO of HD on August 9 with a visit to my primary care doctor, who has treated me for about six years and with whom I have developed a comfortable and cordial relationship.

I had made the appointment to address a benign skin problem and other minor issues. Finally, at the end of my list of concerns, I came to the most important item. I had rehearsed the scenario in my mind many times. I decided to go right to the point.

Almost matter-of-factly, yet with the feeling of a huge wall coming down from around me, I told him that my mother had died of Huntington’s disease and that I had tested positive.

The doctor maintained his usual professional calm. At first, I couldn’t tell whether HD represented for him just another item on my list or something really significant.

From the ensuing conversation, I was reassured to learn that he clearly knew about Huntington’s disease. He also knew the work of the UCSD HD clinic. In fact, he had previously worked several years in another sector at UCSD.

I handed the doctor a printout of my article “Racing Against the Genetic Clock,” published last November in The Chronicle of Higher Education. He promised to read it soon.

My article, written “to combat the stigma and fear surrounding Huntington’s and other neurological disorders” and “to help galvanize support for increased brain research,” revealed my HD status to the many readers of the Chronicle print edition and website and, significantly, to my professional colleagues in the fields of history and Latin American studies.

It also set the stage for informing my doctors about HD.

“I truly enjoyed reading (your) article during my lunch today and plan to keep it around when I have visitors in the office for them to review,” my doctor wrote in an e-mail later that day.

On a subsequent visit, he showed me the file where he kept my article and others about patients’ responses to challenging health conditions.

Visiting the neurologist

With a referral from my primary care physician, I then scheduled an appointment with one of the HMO’s neurologists in order to establish a relationship with a specialist in disorders such as HD and obtain a baseline reading of my neurological health.

A few days before the appointment, I faxed her a copy of “Racing Against the Genetic Clock” to provide her a detailed picture of my family’s history of HD.

At my October 7 consultation, the doctor thoroughly examined me for signs of classic HD symptoms such as difficulties with memory and the inability to walk along a straight line.

As in previous consultations at the UCSD clinic, the doctor saw no evidence of symptoms.

We discussed the various psychiatric medications that I take to help remain psychologically stable and at least one of which might protect brain cells, according to one of the physicians at the HD clinic.

I added that I would schedule an appointment with my HMO psychiatrist to help in my struggle to deal with both the psychological stress of living at risk and to do all that is medically possible to protect my brain from a disorder for which there is no proven effective treatment.

The neurologist and I also discussed the supplements I take, such as creatine and coenzyme Q-10. She immediately arranged for blood tests to check for any deleterious effects the supplements might have on my kidney and liver. To obtain this same information in the past, I had always gotten these routine tests by requesting a check on the effects of the psychiatric mediations, but without mentioning that I took supplements.

Unfortunately, my HMO will not pay for these supplements, which cost close to $2,000 per year. The health establishment does not recognize them as valid for attacking HD, as they’re in the experimental stage: several such substances have undergone study in mice and even humans.

(Similarly, for more than a decade I have consulted with a private psychotherapist who knows about my HD status but whose services are not covered by any health plan or insurance.)

At the end of the consultation, I welled up with emotion as I thanked the doctor and explained to her how meaningful it was for me to have spoken about HD to a neurologist within my health plan.

Like my primary care doctor, she maintained a professional demeanor. However, I was very happy that she agreed to receive e-mail updates of this blog.

Moving beyond the political and social drama

As I have so far felt vindicated in my decision to go fully public about HD and meld my professional and personal lives with my advocacy, so do I now feel extremely relieved and hopeful about integrating HD care into my overall health care.

By bringing these and other professionals into the HD loop, I am strengthening the team that I will need to manage the inevitable symptoms of the disease.

At the same time, I know that I stand on the edge of history with many other Americans who for the first time are testing the political and social waters in the wake of the passage of the Genetic Information Nondiscrimination Act, signed into law in 2009, as well as Obamacare.

In speaking to people from countries such as Canada and England, where public health systems allow (at least in theory) greater openness about genetic conditions, I recognize how long and difficult the path to medical transparency has been for me individually and for the nation as a whole.

It all seems like such a needless drama, which we have relived again with a U.S. government shutdown resulting from the political impasse over the implementation of Obamacare.

We in the HD community have truly suffered the brunt of exclusion, not only from proper health care, but also long-term nursing.

As I stated in my Chronicle article, “As knowledge increases about numerous other health risks, medical ethics must undergo profound revision, and a genetic-rights movement must arise. To borrow one scholar’s phrase, disease-gene carriers like me are ‘moral pioneers’ on the genetic frontier.”

During these past few weeks, I have felt very strongly that pioneering aspect of my life. I’m thrilled now to have my HMO joining me on this journey.

(Next time: Huntington’s disease and bioethics.) 

Hope, cutting-edge science, and poignant moments at the World Congress on Huntington’s Disease

The first such HD meeting held in a developing nation, last month’s World Congress on Huntington’s Disease (WCHD) not only highlighted the need for better understanding of the disease in Latin America. It also revealed the growing global importance of the the quest for both better care everywhere and the development of treatments.

Featuring activities for both researchers and families, the sixth WCHD featured some 20 panels, a poster session, a satellite symposium, joint meetings of the International Huntington Association (IHA) and the Associação Brasil Huntington (ABH), entertaining evening wrap-ups by HDBuzz.net editors Dr. Jeff Carroll and Dr. Ed Wild, and a moving presentation by the France-based HD performance group Dingdingdong.

Like most HD conferences, the WCHD stressed advances in the search for treatments. The four-hour-long closing session included an update on clinical trials, a talk on deep brain stimulation and HD, a presentation on cutting-edge RNA-interference-based (RNAi) therapies, and an overview of the efforts to reduce or block the deleterious effects of the faulty protein huntingtin in the brain.

“There is a lot of hope,” said Dr. Doug Macdonald, the director of drug discovery and development for CHDI Management, Inc., which directs the multi-million-dollar effort to defeat HD by the CHDI Foundation, Inc., in his presentation. “There is a rich pipeline of these therapeutics advancing into the clinic. We have direct delivery of huntingtin-lowering agents, the viral delivery of RNAi agents, and viral delivery of zinc finger protein agents.”

Dr. Macdonald provided a clinical-trial timeline for these potential drugs. The first is likely to be the huntingtin-lowering drug under development at Isis Pharmaceuticals, Inc., and Roche, scheduled to enter a Phase I trial by the end of 2014. Other projects may begin trials in the next few years, Dr. Macdonald added.

For a detailed explanation of these approaches and more on timelines, watch Dr. Macdonald’s talk in its entirety in the video below. See also a discussion of other types of trials and general coverage of the WCHD at www.HDBuzz.net.

You can view 32 more chronologically ordered conference-related videos by visiting my 2013 World Congress on Huntington’s Disease album on Vimeo.

Modulating Huntingtin Levels to Treat Huntington's Disease: A Talk by Dr. Doug Macdonald from Gene Veritas on Vimeo.

From exciting science to social consequences

The WCHD scientific presenters focused on a panoply of other HD themes, from exciting developments in basic science to current medical treatments of symptoms to the social consequences of HD.

Dr. Elena Cattaneo of Italy presented the latest research on the origins of the huntingtin gene.

“The normal gene is a gene that everyone has,” Dr. Cattaneo explained. “Everyone in the world has that gene. At some point, we started to think that, if we have that gene, it means that gene is important. So about ten years ago my group, but also other groups, started looking for the function of the normal gene. Of course, we know that in the disease the mutant gene causes the loss of the neurons. But in order to understand more about the mutant version, we wanted to understand what the normal version was doing.”

Scientists discovered that the normal gene is important for “keeping the neurons healthy and alive and working properly,” she said.

The huntingtin gene was “born” in an ameba species 800 million years ago, she continued. “This is the first pluricellular organ, and the huntingtin gene is there. Pluricellular means that cells talk to each other to form an organism…. I started thinking of huntingtin as a gene with a social function, because it brings cells together. So let’s assume that huntingtin is such a gene. Huntingtin is a good gene. It is not a bad gene.”

You can watch Dr. Cattaneo’s fascinating presentation in the video below.

The Role of the Huntingtin Gene in Huntington's Disease: A Presentation by Dr. Elena Cattaneo from Gene Veritas on Vimeo.

Other notable presentations included Portuguese Dr. Joaquim Ferreira’s detailed review of the various ways in which doctors treat patients and Dr. Anita Goh’s discussion of genetic discrimination and HD.

The Latin American perspective

The WCHD brought a key South American perspective on HD.

“For one thing, the participation of a number of Latin American neurologists, geneticists, and family members offered some new views of Huntington's disease in countries such as Brazil, Peru, Argentina, and Colombia – countries we often do not hear about at international HD meetings,” Dr. Alice Wexler, a historian of HD science, observed in an e-mail after the congress. “Because the extent of Huntington's in these countries is not well known, many of these researchers presented epidemiological and demographic information that was new to most HD researchers, along with clinical and genetic data.”

Dr. Robert Weiser of Venezuela provided a view of HD in Maracaibo, Venezuela, the world’s largest known concentration of HD patients, while Dr. Carlos Cosentino of Peru and Dr. Laura Jardim of Brazil presented their unique research on other aspects of HD in the region.

The WCHD highlighted a stark contrast between the First World, where many HD patients can consult with physicians in modern clinics, and Latin America, where large pockets of HD-affected individuals get no medical attention and lack even such basics as clean drinking water.

Several participants noted that such conditions must improve dramatically for these families to take part in the studies and clinical trials crucial for finding treatments, including Enroll-HD, discussed below.

Rodrigo Osorio of Chile and Alice Wexler’s sister Dr. Nancy Wexler of the U.S. gave moving testimony regarding some of the efforts in the region to improve the conditions for patients, while Dr. Ignacio Muñoz-Sanjuan of CHDI advocated for a recently launched charitable, medical, and care initiative serving Latin America called Factor H: Hope, Huntington’s, Humanity. In their interview with me in Spanish, activists Aleska González and Vivian Puchi elaborated on the major challenges facing the HD community in their native Venezuela.

You can watch Muñoz-Sanjuan describe Factor H in the video below.


Factor H: Hope, Huntington's, Humanity from Gene Veritas on Vimeo.

Riveting stories

The WCHD also gave voice to the riveting stories of HD patients, tested and untested at-risk individuals, caregivers, and family members.

I participated in a plenary session titled “Coping.” The session began with a troubling presentation by Dutch Ph.D. student Marlous Hubers on the topic of “suicidality in Huntington’s disease.”

“In general, suicide occurs two to eight times more often in Huntington’s disease than in the general population,” Hubers stated. “In general, it’s said that 5.7 percent of all deaths in HD are due to suicide, which makes it the third or fourth cause of death in HD…. Screening for suicidal ideation is most important in patients with a depressed mood, as all studies found it as an important predictor.”

Shaken by Hubers’ incisive data, I started my own presentation on coping, which followed hers, by observing that “Marlous’s extremely important research really brings home some issues for me. It brings up lots of memories of how I’ve been trying to cope with living gene-positive for Huntington’s disease. I think she hit the nail right on the head with respect to how gene carriers need help, and gene carriers are kind of on their own, not only with respect to suicide, but other aspects of the disease.”

Collecting myself, I proceeded with a detailed rundown of the many strategies I have adopted to avoid the onset of symptoms.

You can watch my presentation in its entirety in the video below.

Coping with the Threat of Huntington's Disease: Gene Veritas speaks at the World Congress on HD from Gene Veritas on Vimeo.

In one of the most poignant moments of the WCHD, Dr. Carroll and his wife Megan revealed how they conceived their HD-free twins, a boy and a girl, using PGD, preimplantation genetic diagnosis.

The topic was particularly striking for Latin Americans. Genetic testing and genetic counseling are still a rarity, and it’s unclear how much people know about PGD or have used it. In addition, abortion is illegal throughout most of the region, and, at least in the Brazilian case, legislation against genetic discrimination is lacking.

Watch the Carrolls discuss PGD and hear the audience discussion in the video below.

Preimplantation Embryo Selection: Avoiding the Transmission of Huntington's Disease from Gene Veritas on Vimeo.

From young people, with love

The WCHD also had a strong youth presence. I interviewed England-based Matty Ellison, the 25-year-old founder of the Huntington’s Disease Youth Organization, about his father’s fight against HD, his own experience of testing positive for the gene at the age of 19, and his international advocacy.

The most unusual and beautiful moment of the WCHD came with the performance of Dingdingdong, a group of young adult performers representing French HD families and reflecting many themes relevant to young people facing HD.

The group put on From Huntingtonland with Love, a three-part presentation in English involving a short play, a video, and a silent dance performance by chogeographer and dancer Anne Collod, in which she mimics the chorea, or involuntary, dance-like movements, suffered by most HD patients.

You can watch Collod in the video below.


A Portrait in Motion of D., a Man Suffering from Huntington's Disease from Gene Veritas on Vimeo.

A costly event

For me, one drawback of the WCHD was the high cost of the venue, the Sheraton Rio Hotel and Resort, a luxury-class facility on the beach of Leblon, one of the world’s most expensive neighborhoods. My room cost nearly $400 per night, the most expensive room I have ever paid for, and out of reach for vast numbers of Latin American families. (And I couldn’t even share that expensive room with my wife, since she was back home with our daughter.)

Along with several family advocates and others, I noted how the exclusive facility, as well as the scheduling of the event the same week as the Rock in Rio music festival, had made it extremely difficult for low and even middle-income families – and perhaps also local research students – to take part.

As an experienced Brazil hand, I thought the organizers might have chosen less expensive, more accessible facilities. In my opinion, holding the meeting in less-glamorous but more convenient São Paulo – where ABH headquarters are located – would have been a good option.

Dozens of Brazilians attended the WCHD, but only a handful of people came from other countries, even from the aforementioned world leader in HD patients, Venezuela.

Nevertheless, as I wrote in my previous article, overall I thought the WCHD ran very smoothly, and families and IHA made important new connections.

A boost to Enroll-HD

Following the WCHD, CHDI ran a seminar to train medical professionals from Argentina, Brazil, Colombia, and Venezuela how to evaluate HD patients and collect medical information on them for Enroll-HD, the recently inaugurated global HD observational study and database.

Enroll-HD aims to improve tools to assess the disease, identify and characterize biomarkers (signs of the disease) necessary for measuring the effectiveness of treatments, recruit participants for other studies and trials, and improve clinical care everywhere.

Featuring Enroll-HD on one of its panels, the WCHD in Rio provided an important moment for publicizing the program and attracting participants.

(I will report on Enroll-HD at the WCHD in a future article.)

Continuing to foster international connections – and greater family participation in future conferences at all levels – will increase the chances of success of Enroll-HD and ultimately the defeat of HD.

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

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

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

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

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

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

Taíse Cadore (photo by Gene Veritas)

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

Cramming in activities

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

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

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

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

A life-affirming quest

This was not just another of my expeditions to Brazil.

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

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

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

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

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

Gene Veritas with actress and ABH volunteer Luiza Portigliotti 

Gene Veritas with Carlos and Eliezé Adriani of Campinas, Brazil

Stark challenges, seeking advice

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

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

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

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

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

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

In sync with the movement

During this trip, I reached many milestones.

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

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

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

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

As she observed, I was doing the right thing.

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

Heading to Rio for the 2013 World Congress on Huntington’s Disease

Today I will travel to Brazil, my other home, to participate in the critical 2013 World Congress on Huntington’s Disease at the Sheraton Rio Hotel and Resort in Rio de Janeiro.

Approximately 430 scientists, physicians, advocates, and family members are expected to attend the congress, which runs from September 15-18.

The congress will feature presentations on the efforts towards treatments, basic research, clinical features of the disease, genetics and genetic testing, patient and family perspectives on the disease, and other HD-related themes. The event includes meetings of the International Huntington’s Association and other HD organizations.

Along with other international specialists and advocates, I will speak in a session on “Coping” on September 16. (The presentations will be in English, the official language of the congress.)

The congress will also help support the recently inaugurated Enroll-HD, 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 tests and treatments.

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 increased attention to Enroll in the region and especially Brazil. With over 190 million people, the world’s fifth largest population, Brazil could add potentially hundreds, if not thousands, of participants to Enroll-HD.

Click here to read a previous article on Brazil’s significant place on the HD map.

Brazil’s federal government has also taken notice of the HD cause. Local advocates and Brazilian health ministry officials have started a dialogue on the need to train doctors and other health professionals how to recognize the frequently misdiagnosed symptoms of HD and refer patients to specialized clinics.

A bi-cultural life

I have researched Brazilian history since 1986 and ever since have traveled there almost annually. In all, I have spent about eight years in Brazil. My wife Regina is from Brazil, and our teen daughter Bianca is close to her Brazilian grandma and aunts and uncles.

I have become a bi-cultural individual. I feel very much at home in Rio, where Regina and I met during my three years of Ph.D. research from 1988-1991, and the numerous other regions of Brazil I have visited.

Gene Veritas (aka Kenneth Serbin) conducting research at the Memorial of Resistance to the Brazilian dictatorship in 2009 (photo by Marcelo Ulisses Machado)

On the day before the congress begins, I will attend the 80th birthday party of minha mãe brasleira, “my Brazilian mom,” Maryse Bacellar, whom I met in 1988 while spending a couple months in her home during an intensive Portuguese-language program.

From virtually the start of my family’s difficult odyssey with HD after my mother’s diagnosis in 1995, Maryse has always lent an understanding ear.

As my biological mother Carol Serbin withered away under the barrage of HD symptoms, dying of the disease in 2006, Maryse occupied an increasingly important place in my life. After my mom lost the ability to speak, Maryse became the virtual mom I could talk to.

In my free moments, I’ll also get to spend time with my mother-in-law and other relatives and close friends.

Over the years, I have forged deep bonds with many other Brazilian friends. After I exited the terrible and lonely “HD closet” last year with an article in The Chronicle of Higher Education and then in Portuguese in the Folha de S.Paulo, those friends sent warm greetings of solidarity.

Along the way, I have witnessed the development of the Associação Brasil Huntington and built ties to its leaders.

HD and bioethics

After the congress, I will travel to São Paulo, one of the world’s leading industrial and financial hubs, to deliver a speech in Portuguese on “Huntington’s Disease and Bioethics: A Case Study.”

The event will take place at 10 a.m. on September 21 at Centro Universitário São Camilo’s graduate program in bio-ethics, located at the university’s Campus Pompeia 1, Rua Raul Pompeio, 144.

The day before I am also scheduled to appear before the truth commission of the São Paulo state legislature, one of many such commissions in Brazil currently investigating the atrocities of the military dictatorship that ruled the country from 1964-1981. I have written several books and a number of articles examining that period.

A huge milestone

As I increasingly turn my scholarly attention to the fight to interpret the quest to defeat HD and contribute to its success, this trip represents a huge personal milestone.

For the first time, I will completely meld my vast experience in Brazil with my HD advocacy.

I am ever thankful for the great commitment of my Brazilian brothers and sisters to the HD cause. I look forward to one day celebrating with them the defeat of HD.