Savoring 20 years of my Huntington’s disease blog

 

This month I am celebrating the 20 years of this blog.

 

I began At Risk for Huntington’s Disease on January 10, 2005, wanting to “squeeze as much life into my days as possible” before experiencing the debilitating HD symptoms that led to my mother’s death a year later. Because I lived in what I called the “terrible and lonely HD closet” – fearful of genetic discrimination – I used the pseudonym “Gene Veritas,” “the truth in my genes.” That name reflected the fact that I had tested positive for the HD gene in 1999.

 

My mother died at 68, after two decades of debilitating symptoms, which was very painful to watch.

 

I turned 65 last month. By this age, I had expected to have full-blown HD, which would have left me unable to work, drive, or write.

 

But, according to my latest neurological checkup, I don’t yet have apparent HD symptoms!

 

In general, the more abnormal the gene, the earlier the age of disease onset. My mother and I have the same gene mutation, suggesting a similar disease path. However, although my mother’s symptoms started in her late 40s, one or more modifier genes, the functions of which were discovered a decade ago, have perhaps delayed my disease onset.

 

This article is number 336. Each day of good health is a blessing.

 

Gene Veritas (aka Kenneth P. Serbin) with his blog (photo by Regina Serbin)

 

The impact

 

In 2012, I exited the HD closet by publishing an essay – and using my real name, Kenneth P. Serbin – in The Chronicle of Higher Education. It was titled “Racing Against the Genetic Clock.” Going public opened new vistas of advocacy and enabled me to blog with greater transparency.

 

In December 2022. I published a detailed analysis of the blog in “Striving for a Realistic and Unapologetic View of Huntington’s Disease” in the Journal of Huntington’s Disease. It described how the blog has helped give voice to the HD community by exploring the major challenges faced by HD families, becoming a key reference for those families, and chronicling the quest to defeat the disorder.

 

As I observed, the blog has also “helped document the new and harrowing experience of living in the gray zone between a genetic test result and disease onset.”

 

At Risk for HD has addressed multiple topics including advocacy, caregiving, family trauma, coping strategies, genetic testing, discrimination, leaving the HD closet, participation in research and clinical trials, as well as religion, faith, and spirituality.

 

When my mother was diagnosed with HD in 1995 – two years after the discovery of the gene – little hope existed for treatments that could slow the progression of HD. However, in the past decade, advances in academic labs and biopharma firms have led to key clinical trials that show potential for affecting the course of HD and perhaps even a cure (click here to read more).

Telling the story of those complex developments has become a major focus of At Risk for HD. With the growing number of research projects, I have necessarily highlighted those that appear closest to producing actual drugs such as the Roche gene silencing program, which I have covered extensively.

 

In 2021, the first Roche trial showed lack of efficacy. In 2023 Roche started enrolling volunteers in a more focused trial to see if the drug might work at least in some patients. Other key trials are in progress or being planned.

 

Hoping for an HD-free world, savoring life

 

Writing the entries of At Risk for HD has given me great meaning and purpose, which researchers have identified as increasing well-being and positively impacting the course of the disease.

 

For now, I plan to continue blogging as long health permits – and until the quest for a cure is complete.

 

In February, I hope to attend the crucial 20th Annual HD Therapeutics Conference at the Parker Hotel in Palm Springs, CA. The conference is sponsored by CHDI Foundation, Inc., the largest private funder of HD research.

 

In 2011, I delivered the conference keynote speech before 250 scientists, physicians, and biopharma reps – a decisive step towards my complete exit from the closet in 2012 and chronicled in this blog.

 

I have described the conference as the “Super Bowl of HD research,” covered in many blog articles and videos of scientists (see, for example, this one).

 

With the rest of the HD community, I hope for the announcement of effective treatments. I very much look forward to reporting on progress.

 

Just as important is the need to savor life – another key lesson of my journey with the HD community, this blog, and my friends and family.

Wonder if you’ll get Huntington’s disease? Preparing for the big, ‘intensely personal’ decision to undergo predictive testing

One of the most daunting challenges facing families affected by Huntington’s disease involves genetic testing.

Huntington’s is a 100-percent genetically caused disease, and it now can be foreseen – but not yet cured or treated. All humans have the huntingtin gene, which is essential for life. HD’s devastating, ultimately deadly symptoms are caused by a specific mutation (called a “CAG repeat expansion”) in the gene. Definitive testing for HD became available after the historic discovery of the gene in 1993.

Because every child of an affected HD parent has a 50-50 chance of inheriting the expanded gene, the mere decision to test is often frightful. A positive test result for the expansion means not only that the tested person will develop HD, but carries an added burden: the knowledge that both immediate and extended family members are also at risk of carrying the expansion.

Three scenarios

A person showing no symptoms, or suspecting symptoms, undergoes a predictive test, that is, to see whether the individual carries the expansion and therefore might have HD or later develop it. (Diagnostic testing confirms whether a person already displaying symptoms has HD. Prenatal testing determines whether a fetus or embryo carries the expansion.)

These three scenarios were poignantly portrayed in the July 3 ABC News feature “Living with Huntington’s Disease.” The 15-minute program focused on the stories of Scott and Kelsey Porter and Justin Furstenberg, who received his test result on camera (starkly reminiscent of the film The Lion’s Mouth Opens.)

The report’s detailed, deeply personal rendering of the genetic testing process also illustrated how HD families rely on supportive genetic counseling and psychological and medical assistance – as well as solid scientific information – to navigate the many challenges involved.

Scott and Kelsey Porter in a Huntington's Disease Society of America video

According to recommended guidelines, individuals like the at-risk Kelsey must prepare for this procedure by speaking to a genetic counselor and a mental health professional, and should have a support person (such as a spouse or close friend) physically present throughout the process. For testing in the United States, this “protocol” was established by the Huntington’s Disease Society of America (HDSA). It was most recently updated in 2016. Testing centers should do the utmost to ensure confidentiality, especially since news of a positive test can risk changing perceptions in the workplace and elsewhere, even if there are new guarantees against genetic discrimination.

Testing centers often intentionally slow the testing process, so that there is time for the individual to reconsider the decision to be tested, to think about the potential downside of testing, and to prepare for the impact of the result. Because of survivor’s guilt and other psychological factors, a negative test result can also prove traumatic and disruptive to a person’s relationships with family and friends.

In my quarter century of attending the local monthly HDSA support group and advocating for the HD cause, the topic of predictive genetic testing and its many implications has come up regularly. My own family faced all three modes of tests over five years: my mother’s positive diagnostic test in 1995, my positive predictive test in 1999, and my daughter’s negative prenatal test in late 1999/early 2000. (Click here for details of my family’s fight against HD.)

Based on these experiences and my study of the many related issues, this article provides an overview of key steps and resources for people preparing for HD testing, in particular the predictive type.

Helpful HDSA resources

HDSA, in addition to its genetic testing protocol, provides a brochure to HD families, Genetic Testing Huntington’s Disease, that in simple language answers basic questions about the disease, testing procedures, and resources.

The brochure emphasizes a cardinal rule that I learned early in my family’s journey with HD, and which I have repeated to other HD family members coming to grips with disease for the first time:

“The decision to undergo genetic testing is an intensely personal one that cannot be taken lightly. Testing should never be forced on an at-risk individual. There are no ‘right’ or ‘wrong’ answers. Each individual will have to take his/her own circumstances into consideration before making the decision.”

The HDSA family guide to genetic testing (copyright, HDSA)

The HDSA website furnishes valuable information on “genetic testing and your rights,” including the Genetic Information Nondiscrimination Act of 2008 (GINA). As explained on the site, GINA prohibits “health insurance companies and group health plans from denying coverage or charging a higher premium based on genetic information.” It also “prohibits employers from using an employee’s genetic information to discriminate when making employment decisions about hiring, firing, promotion, or terms of employment.”

In chapter 2 of HDSA’s A Physician’s Guide to the Management of Huntington’s Disease, leading HD specialist Martha Nance, M.D., provides additional critical information about testing and counseling. The chapter includes a detailed medical discussion of HD genetics.

A diagnosis of HD “affects the entire extended family,” Dr. Nance writes. “The person who is diagnosed with HD grieves not only for himself, but also for his at-risk children, and a young adult child caring for an affected parent understands that the parent’s disease could one day affect him.”

Dr. Nance stresses the importance of “accurate information” necessary for families to make “informed decisions” about genetic testing and family, financial, and life planning. Unfortunately, even decades after the discovery of the gene, “misinformation and misunderstandings” about HD genetics are still common, she notes.

(You can also watch a panel discussion titled “Looking to the Future: Life After Testing,” held at HDSA’s 35th annual convention, which took place online last month.)

Moving towards ‘genetic education’

In 2018, the international Huntington’s Disease Youth Organization (HDYO) added to its website a very readable “Genetic Testing Checklist,” covering key topics such as motivation for testing, coping with the test results, the testing process, and key things to do before testing, such as lining up insurance coverage (discussed below). This resource echoes many of the points made in HDSA materials.

In 2019, veteran University of Washington neurologist Thomas D. Bird, M.D., published Can You Help Me? Inside the Turbulent World of Huntington Disease, a book based on his more than 40 years’ experience seeing HD patients and their families. It includes detailed discussion of the many issues involved in what Dr. Bird calls the “genetic testing conundrum.”

Individuals contemplating genetic testing will find many valuable stories in Dr. Bird’s book. He describes the gamut of people’s reactions to testing – from individuals who have tested negative but still require a while for it to “sink in,” to (sadly) the risk for suicide among people testing positive.

“Suicide represents the cause of death in about 5-6% of persons with HD – five times higher than the national average,” Dr. Bird explains. “It can happen at any time but it is most common when a person at risk decides he or she is developing symptoms.”

Dr. Bird observes, crucially, that the “genetic test result is not black and white, all or nothing.” This reflects the latest genetic research on HD, which has demonstrated that the age of onset of symptoms is driven not just by the severity of the mutation but also by modifier genes (click here to read more).

This is why Dr. Bird stresses a comprehensive understanding of genetic counseling.

“Some people don’t like the term counseling,” he writes. “It sounds too much like psychotherapy, and they are wary of that. In fact, genetic counseling does sometimes have a heavy dose of psychotherapy, but it entails much more. Perhaps the best word would be education – genetic education.”

(I will review Can You Help Me? more fully in a future article.)

Ten key steps 

With these resources in mind, I list below ten key steps in preparing for a predictive genetic test and dealing with its short- and long-term consequences. These are my personal thoughts; this list is not meant to be exhaustive or official. Individuals should always consult their physicians. Each individual’s situation is unique.

1. Learn as much as you can about HD by studying the resources cited in this article, as well as others.

2. Join a support group, where you can learn from and share ideas with others confronting HD, as well as from facilitators and health professionals.

3. Contact the nearest HDSA Center of Excellence (or other HD or neurology clinic), where you can obtain information about testing and clinical services. You also can become involved in critical efforts towards treatments such as clinical trials and research studies like Enroll-HD. 

4. Know your rights regarding genetic testing and healthcare access under federal, state, and local law in your country of residence, and, in the U.S., learn about GINA.

5. Obtain life, disability, and/or long-term care insurance prior to testing. GINA does not protect consumers in these areas. In 1999, before testing, I was able to secure a long-term care policy with lifetime coverage. Since then, the long-term care market has gone into crisis, with many fewer policies issued, and far more limited coverage (click here and here to read more). At the time, I found it very helpful to work with an insurance broker recommended by an insurance agent specializing in long-term care who had been a guest speaker at the HD support group.

6. Set up a will, an advanced directive for end-of-life care, and, if appropriate, a living will to help protect assets. Also plan for the potential impact of HD on family finances by consulting a trusted financial advisor.

7. Research and select the testing center for your genetic test, including the cost of the procedure, which can run from a few hundred dollars to more than $1,000. (Some HDSA Centers of Excellence offer free or reduced pricing on testing. One foundation has paid for in vitro fertilization of non-HD-affected embryos but temporarily suspended grants because of the COVID-19 pandemic.) Some HD family members have criticized the quality of guidance provided at some centers. Be your own best advocate, and don’t be afraid to ask questions.

8. Find a trusted family member or friend to be your support person.

9. Build a relationship with a trusted psychotherapist.

10. Become active in HDSA and/or other advocacy organizations.

With potential treatments, an expected boom in testing

As the geneticist who revealed my test results in 1999 stated, “a positive test is not a diagnosis.” Physicians and scientists underscore this point. Like me, many people live years and even decades after their test before symptoms start.

Currently, no more than ten percent of at-risk individuals choose to be tested. The vast majority fear a potentially depressing result, “and there is no means of prevention,” Dr. Bird observes.

However, as clinical trials such as the historic GENERATION HD1 proceed, the potential for the first effective treatments has grown significantly.

Indeed, doctors and HD clinics are preparing for the likely boom in testing for the HD mutation that will occur if GENERATION HD1 or trials of other possible disease-modifying treatments are successful, as people seek to learn their status before starting on a treatment. (Click here and here to read more.)

More than ever, people seeking HD predictive testing and their families will need what Dr. Bird describes as “an experienced, compassionate team to help them through this challenge.”

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

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

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

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

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

A ‘bi-cultural’ perspective

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

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

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

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

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

Combating genetic discrimination

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

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

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

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

Defending the rights of the disabled

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

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

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

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

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

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

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

Bioethical challenges

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

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

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

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

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

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

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

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

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

The hope of clinical trials

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

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

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

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

You can view my talk in the video below.

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

A local commitment to the cause

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

They also expressed excitement about the Isis clinical trial.

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

Recognizing common struggles

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

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

The struggles are shared among diseases – and among nations.

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

Reshaping my career and life in the face of Huntington’s disease (and a note of hope)

In the second half of the 1990s, after learning of my mother’s diagnosis for Huntington’s disease, the 50-50 chance of having the genetic mutation unsettled me greatly. One way I dealt this was to throw myself into my career.

The fear that I would follow in my mother’s footsteps and lose my ability to work frequently caused me to panic. I was just 36, but the future seemed bleak because I witnessed in my mother and other HD patients the terrible devastation of the disease. She was declining rapidly. I thought my own decline could occur at any time and was convinced that, at best, I wouldn’t get very far into my 40s before HD hit.

Striving to achieve the academic milestone of my first book – the gold standard for recognition for professional historians – I sometimes wrote as many as 14 hours per day.

The quest for success – I was already thinking about my professional legacy – served as a powerful form of denial.

Family first

During that now seemingly crazy but certainly understandable response, I often neglected my relationship with Regina, my wife. Regina had stood by my side throughout our ordeals with HD, but the long hours I worked meant fewer hours to grow with her in the marriage.

After my initial impulse to get tested for HD right after my mother’s diagnosis in late 1995, I had sensibly postponed testing to gather information about the disease and avoid the risk of genetic discrimination. Regina agreed that we should delay starting a family until we sorted out all the issues HD presented for conceiving and raising children.

However, after a few years of waiting, and approaching her mid-30s, Regina wanted a child badly.

My decision to get tested in 1999 to prepare for having a family, my subsequent positive test result, our daughter Bianca’s negative result in the womb, and her birth the following year grounded me again in the basics of life and sealed my commitment to my family.

As Bianca grew, my mother headed towards death.

Soon, rather than working overtime on professional  issues, I stepped up my HD advocacy, although always behind the scenes because of the enduring fear of genetic discrimination.

I still spent much time away from Regina and Bianca, yet I also learned to manage my week more efficiently. I reserved special moments for them, especially on the weekends.

Raising Bianca along with Regina and watching her grow into a teenager have brought me great pride and joy. There is no more important task for parents.

Although no life is risk-free, we are profoundly relieved and grateful that she will never have HD.

In my work as chair of the history department at the University of San Diego (USD), I always say “family first” to co-workers needing time off to attend to critical matters such as an ill child.

A clear purpose

In the 18 months since I exited the “HD closet” and announced the adoption of a second academic field, I’m once again reshaping my career.

I’ve reflected deeply on what professional ambition means for me. Whereas career was once top priority, today I think a lot more about human solidarity.

At home, this means keeping the focus on family. In the academic venue, it’s about viewing career as a service to students, the profession, and society. In HD advocacy, it’s a collaborative effort to speed up the discovery of treatments to save tens of thousands of people like me from the disease.

My shift in attitude results partially from my experience as a parent and the perspective on life maturity provides.

However, the fight against HD also plays a very significant role.

I especially comprehend the importance of HD when I attend conferences such as last February’s Ninth HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc.

With hundreds of participants focused on the single goal of defeating HD, the feeling in the room was electric – indeed, almost surreal. The atmosphere was so intense and the connections among the participants so strong that I felt as if I were communicating telepathically with some of them.

Similarly, learning that yet another person has died from HD or juvenile HD strikes me in the pit of the stomach and redoubles my sense of urgency as an advocate.

My academic career began as a search for professional and personal fulfillment fueled with a passion for Latin America and its history. My investigation into the history of science, technology, and medicine – which includes my HD advocacy and, in this blog, an ongoing, firsthand account of living at risk – transcends the professional and the personal. It builds awareness about the global, cutting-edge efforts to improve brain health.

In short, I now have a clear purpose.

Melding career and activism

My reshaped career melds my professional training with my advocacy work. As I wrote recently, at work I raised concerns about the long-term effects of head injuries suffered by college football players.

On April 3, I attended a USD-sponsored panel discussion on ethics and genetic testing, with a focus on the direct-to-consumer genetic testing service 23 and Me. Last November the federal Food and Drug Administration ordered the company to stop selling its saliva connection kit and genome service because the agency said it had failed to demonstrate the tests’ accuracy. I made an audio recording of the USD event and took photos of the participants, who included fellow faculty members as well as two deans. I plan to report on the event in this blog. This is the first time that I have covered a USD event as an HD blogger.

During the 2014-2015 academic year, I will be on sabbatical, that is, freed from teaching and administrative duties to focus exclusively on research and related projects. During that period I plan to work on a long-gestating book on former Brazilian revolutionaries who have come to positions of power. I also aim to continue my HD advocacy, and I will prepare a new course tentatively titled “A History of the Brain,” a subject not being taught in our History department nor in any science department.

I hope that course, to be taught after I return from leave, will inspire students to become historians and to build awareness of the centrality of the brain in our lives, as well as produce more humanistic, historically-oriented science majors.

In general, I feel a growing desire to help guide young people – surely a function of being a father of a teenager and a veteran professor, but also of my solidarity work in the HD movement.

Riding a whipsaw, but content

On April 10, I flew to Providence, RI, to take part in a conference at Brown University marking the 50^th anniversary of the U.S.-supported Brazilian military overthrow of the democratically elected President João Goulart.

This was the first meeting related to Brazilian studies I had attended in more than four years. The long hiatus was caused by my growing interest in the history of science, technology, and medicine.

It was also the first time I took part in a Brazilian studies event where people knew about my HD status. I received words of encouragement from several colleagues, including some who have made donations to the cause. I felt very much at ease, and I was thrilled to feel some of my old passion for Brazil return and to catch up with my colleagues.

I also brought to the conference a much sharper mental focus, obtained thanks to my participation in events such as the HD Therapeutics conferences, which, because they represent completely new and highly complex material about a life-or-death matter, require enormous concentration, energy, and openness to different perspectives.

By sheer coincidence, on April 12 the Rhode Island chapter of the Huntington’s Disease Society of America (HDSA) held its inaugural family education day at Butler Hospital, also in Providence. I took part, giving a presentation titled "Opportunities for HD Advocacy."

You can watch my presentation in the video below. For other presentations from the education day, click here to visit my Vimeo video album of the event. (I'll be adding additional presentations from the event in the next few days, so be sure to refer to the album again.)

Opportunities for Huntington's Disease Advocacy: A Presentation by Gene Veritas at Butler Hospital from Gene Veritas on Vimeo.

Immediately after the family education event I got a ride to the airport with Connecticut HD activist Laura Kokoska, who updated me on her HD-stricken mother, who is 71, and her own advocacy activities.

On the morning of April 13, I led the Serbin Family Team in the third annual Team Hope Walk of HDSA-San Diego.

Flying coast-to-coast twice in less than 72 hours (with connections in Chicago), jumping from one event to another in Providence, presenting talks on both Brazilian history and HD advocacy, arising early on the 13^th for the Hope Walk – it all felt like riding on a whipsaw.

No matter! I was excited to thrive and make yet wider and deeper connections in both spheres of my career.

As I've learned, my life must not serve my career, but my career my life.

A successful Hope Walk

The Hope Walk was a success, raising approximately the San Diego chapter goal of $44,000. Lead corporate sponsor Auspex Pharmaceuticals, a San Diego-based company conducting HD research, donated $10,000 to the event. Other major corporate donors included pharmaceutical firms Vertex and Lundbeck, both of which also have an HD focus.

For the second straight year, the Serbin Family Team was the top team fundraiser, with a total of more than $4,600. I wish to thank the 44 donors (individuals, couples, and families) who gave to the cause, as well as the team members who walked with us at Tidewater Park in Coronado, CA.

As in past years, the support of HD-focused firms and the participation of more than 300 people, including some of the scientists seeking treatments, lifted my spirits.

You can view the Serbin Family Team and other scenes from the Hope Walk in the photos below.

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, Allan Rappoport (photo by Bob Walker)

Gene Veritas (aka Kenneth Serbin) presents 16-year-old juvenile HD patient Terry Leach with the iPad mini won by the Serbin Family Team for being the top Hope Walk team fundraiser (photo by Misty Oto).

HDSA-San Diego President George Essig addresses the crowd just before the Hope Walk begins (photo by Gene Veritas).

Hope Walk co-organizer Misty Oto addresses the crowd alongside Christian Rodriguez (left) and Terry Lopez, organizer of a Poway High School student group established last year to support the local HD community (photo by Gene Veritas).

Tim Schroeder (left), Gene Veritas, and HD support group facilitator Sandy Grofcsik

Walk participants LaVonne and Paul Cashman (left) and Jim Stone (photo by Gene Veritas)

Hope Walk participants await the start of the event (photo by Gene Veritas).

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.