This Thanksgiving, appreciating stable health and new plans for Huntington’s disease advocacy

This Thanksgiving, I am especially grateful for good health – and all that it enables me to enjoy.

At my annual neurology checkup on October 31, the doctor told me that I remain asymptomatic for Huntington’s disease. My more extensive annual Enroll-HD examination earlier in the year also showed no symptoms. 

I tested positive for the HD gene in 1999. Next month, I turn 59. At that age, my mother had already been diagnosed and was rapidly losing the ability to walk, talk, and care for herself. She died in 2006 at the age of 68 after a long struggle.

I never imagined that at this point I could still pursue my passion for writing, teach at the university, and support my family.

As I frequently tell students, colleagues, and my family, “health is first.” Without it, achieving goals and handling responsibilities can become very difficult, if not impossible.

Studying the history of the HD cause

I am putting the final touches on a book in my field of Brazilian history, scheduled to be published next June, From Revolution to Power in Brazil: How Radical Leftists Embraced Capitalism and Struggled with Power. I began the research more than two decades ago, not long after learning of my mother’s HD diagnosis. Seeing the project come to fruition is thrilling and profoundly fulfilling.

With the Brazil project complete, I will carry out my long-gestating plan to shift my main scholarly focus to the history of science, technology, and medicine. Last month I proposed a new, multi-year research project, titled “Racing Against the Genetic Clock: A Social, Scientific, and Personal History of the Huntington’s Disease Movement.”

I aim to study how key facets of the movement intertwined with major developments in the biotechnological and medical revolutions of the past 200 years. I believe that the HD cause can serve as a guidepost for other disease communities and inform key bioethical questions related to them.

I also want to help the HD community reflect on its path through history. 

More than ever, my scholarly work and HD advocacy will meld. (Click here to read more.)

Seeing our daughter enter college

On a personal level, good health allowed me to join my wife Regina last August in helping our HD-free daughter Bianca set up for her first semester at the University of Pennsylvania, where she is studying in its College of Arts and Sciences.

I had always feared that HD would prevent me from experiencing this special moment – just as HD had stopped my mother from interacting with Bianca as a baby and young child.

I am more determined than ever to see Bianca graduate from college and find her way in life. I’m hoping that GENERATION HD1, the historic Roche Phase 3 clinical trial of a gene-silencing HD drug, will result in an effective treatment not only for patients, but as a preventive measure for presymptomatic gene carriers like me. Roche hopes to enroll the first volunteers starting in early 2019.

Looking ahead, I hope to retire on my own timeline – not because of HD.

Regina, Bianca, and Kenneth Serbin (aka Gene Veritas) during Penn Family Weekend, October 21, 2018 (family photo)

The preciousness of life

I’ve been extremely fortunate to reach this point without HD symptoms—or other significant health problems. Many HD brothers and sisters of my generation are struggling with symptoms. 

Like so many in HD families and other difficult situations, I’ve learned to value each moment of life.

Others face different health issues. At this time last year, I lost two wonderful friends about my age, generous supporters of the HD cause, taken quickly and unexpectedly by other conditions. I’ve missed them dearly, and think about them daily as a reminder of the preciousness of life.

Tomorrow, I want to enjoy Thanksgiving.

God and nature willing, I’ll awake the next day ready to love my family, continue the fight to defeat HD, and dream of a day when a cure frees me to assist people less fortunate.

Happy Thanksgiving! And the best of health for you and yours.

A family united against Huntington’s disease

The overwhelming challenges of Huntington’s disease frequently provoke serious conflict – even splits – within families.

The genetic nature of HD, the accompanying stigma, the devastating symptoms, and the heavy caregiving burden often produce emotionally draining conflicts. Then the lack of solidarity impedes the quest for improved care and treatments.

On April 24, during a recent visit to Brazil, I met the extraordinarily united Miranda family. The Mirandas’ example provides HD families (and other disease communities) with an alternative to hostility: when adversity hit, they pulled together.

At the invitation of their matriarch, Edília Ferreira Miranda Aded Paz, I met more than a dozen members of the extended family at Edília’s spacious home in a prosperous neighborhood on the outskirts of Brasília, the capital.

Edília’s father, Marcondes Miranda, died of HD in 1974 at 62. Marcondes left an enormous number of offspring affected by or at risk for the disease. He and his late wife had 14 children, eight of whom inherited the HD genetic defect. Today there are 50 Miranda grandchildren, plus also great-grandchildren and great-great-grandchildren. Some descendants have died from HD, others currently suffer from the disease, and many young ones likely carry the defect.

Edília, who tested negative for HD, took the family’s lead on HD in the mid-1990s. At 65, she is the vice president of the União dos Parentes e Amigos dos Doentes de Huntington (UPADH, Association of Relatives and Friends of Huntington’s Patients), based in Brasília, and she sits on the board of Brazil’s other HD organization, the Associação Brasil Huntington (ABH), headquartered in São Paulo.

“What’s interesting about my family is that it united us,” Edília, a retired public servant, said of Huntington’s. “From the moment we learned that a very large number of people had the gene, we came together.”

We spoke in Portuguese during the family meeting, which I recorded so others could listen later. Edília and I had met briefly at the World Congress on Huntington’s Disease in Rio de Janeiro in 2013, and she follows this blog. I had long wanted to meet with UPADH members.

“I do everything possible and impossible to keep the family united,” Edília continued. “Because in my mind, if things are already bad enough with all these people affected, it’s even worse if we’re alone.

“I don’t have the disease, but I never celebrated that fact. Two other sisters who tested negative and I used to say: what’s worse – having a disease yourself or seeing siblings die from that disease and knowing that nieces and nephews have the disease? But I took on this mission. I don’t do it to show off. I do it because it makes me feel good. I don’t have the disease, but I can help.”

Edília at her home in Brasília, April 24, 2016 (photo by Gene Veritas)

Unconditional love for the stricken

The meeting at Edília’s home was the largest family gathering I have encountered in nearly two decades of HD advocacy. After warm introductions, we sat in a circle in the living room. With Edília’s prompt, I began the meeting. I explained that my mother died of HD and that I carried the HD gene.

For the next two hours, as we shared our stories, I witnessed the deep pain that HD has wrought on the Miranda family and their courage to fight back.

Edília’s sister-in-law Izaura Maria Soares Miranda lost her husband, Genésio Miranda, to HD. They had three sons and a daughter. All three sons developed HD. The oldest, Marcus Vinícius, died nine months ago, at 46.

“The disease started in him at age 32,” Izaura said, still deeply stricken with grief. “I took care of my son for eleven years. I saw him die little by little. I didn’t want him to die. I’m still mourning him. A piece of me is missing.

“No mother deserves to go through that, to lose a son. I know he’s now at rest. He suffered a lot. But that doesn’t diminish the pain.”

Seeing her other sons devastated by HD has multiplied her suffering, said Izaura, 65, an attorney who has testified about HD in the Brazilian Congress.

“In the next incarnation I don’t want children,” she insists. “I don’t want to suffer. I love my children unconditionally. I raised them alone and continue to care for them alone. So I’d kill or die for them. In the next incarnation I don’t want to suffer.”

Edília's nephew Félix (left), friend Estela, sister-in-law Izaura, and niece Samantha (photo by Gene Veritas)

The other relatives present revealed many other difficult HD challenges: caring for parents and children stricken with the disease, pondering genetic testing, and pooling resources to aid affected relatives unable to earn a living, including one symptomatic woman with young children.

In the words of one niece, Edília has “mobilized the entire family” to assist relatives in dire need because of HD.

In another example of unity, Edília noted the regular collaboration between the UPADH and ABH. The two organizations emerged independently of each other based on the needs of the families they serve in their particular regions of Brazil.

The Mirandas make history

According to Edília and a 2009 news article on the family, in 1995 the Mirandas became the first Brazilian family to undergo genetic testing for Huntington’s disease. Scientists identified the disease-causing gene in 1993, making such a test possible.

Advised by a neurologist in Brasília, the extended family pooled its resources and paid about $80,000 for the tests, done in a lab in another city. The family elected Edília to receive the results for the entire family.

Very quickly, most of the family regretted the decision to get tested: HD was untreatable, so what good did it do to know? Edília knew she had tested negative, but at the time nobody else in the family wanted to learn the results. So Edília didn’t share the documents with anybody.

Worse, at the time Brazil lacked protocols for genetic testing. Such protocols include a waiting period before collecting the DNA sample, as well as genetic and psychological counseling.

The Brasília neurologist simply handed over the test results with no additional information, Edília recalled.

“As a consequence of that, big changes were made in way test results had to be delivered,” Edília said.

In 2008, Edília removed the genetic test documents from the safe in her house and burned the results of those who had tested positive for HD but didn’t want to know their status. Edília had memorized the results; at the April meeting, she discussed some of them openly.

“Yes, I burned them, because looking at them brought great suffering,” Edília wrote after our encounter in Brasília. Without psychological support for the family or the hope of treatments, “I felt at rock bottom,” she recalled.

Anxious to end the ‘nightmare’

Today Edília and her family have greater hope.

At the meeting on April 24, the Mirandas eagerly awaited news on the latest HD clinical trials. They were excited to meet an advocate from the United States, where the HD cause is relatively strong and many companies and universities have labs focused on finding treatments.

The Mirandas especially wanted to know about the Ionis Pharmaceuticals Phase I HD gene-silencing clinical trial currently in progress in England, Germany, and Canada. I reported that the first group of gene-silencing volunteers had safely completed their portion of the trial, and that the chief HD drug hunter has expressed confidence that effective HD treatments will eventually appear (click here to read more on these developments).

The family hopes anxiously for a cure to be freed of the “nightmare” of HD, said Jucilene, a niece who struggled terribly with fear before testing negative in 1995.

Noting that I had avoided symptoms into my 57th year, the Mirandas also wanted to discuss my personal strategies for avoiding the inevitable onset. We covered the gamut, from supplements to psychotherapy, exercise to healthy eating.

Gene Veritas (seated, center) with members of the Miranda family (personal photo)

I promised further news from two key, Portuguese-speaking members of the effort to develop HD treatments: Celina Zerbinatti, Ph.D., vice president for biology at Evotec, a Germany-based drug discovery company partnering with CHDI Foundation, Inc., the nonprofit virtual HD biotech, and Cristina Sampaio, M.D., Ph.D., CHDI’s chief clinical officer and one of the individuals responsible for Enroll-HD, the CHDI-sponsored global patient registry and clinical trial platform.

“You are in good hands!” Dr. Zerbinatti said in an interview aimed at the Brazilian HD community in which she outlined the efforts of CHDI and Evotec.

In another interview, Dr. Sampaio explained the importance of Enroll-HD for Brazil and urged Brazilian advocates to keep pushing for the adoption of the program in their country.

I conducted both interviews at the annual CHDI conference in February. You can watch them in the videos below.

'Vocês estão em boas mãos!' A Dra. Celina Zerbinatti fala para a comunidade de Huntington no Brasil from Gene Veritas on Vimeo.

A Importância do Enroll-HD para a Comunidade de Huntington no Brasil from Gene Veritas on Vimeo.

Enroll-HD rejected in Brazil

With large HD families such as the Mirandas, Brazil and other Latin American countries could play a pivotal role in defeating HD by providing badly needed volunteers for crucial research studies and clinical trials. The world’s sixth largest nation, Brazil has an estimated 20,000 HD-affected individuals.

However, Enroll-HD currently functions in only two countries in the region, Argentina and Chile.

In October 2015, CONEP, Brazil’s National Research Ethics Commission, rejected CHDI’s proposal to set up Enroll-HD there.

“It never occurred to us that Enroll wouldn’t come to Brazil,” Edília said. “Enroll is very important for us.”

Reconciling different standards

Advocates aim to reverse the commission’s decision.

On March 28, Edília, ABH President Vita Aguiar, three former ABH presidents, and other advocates met in São Paulo with the CONEP coordinator, Dr. Jorge Venâncio. Edília’s niece Taís, an attorney, also took part. She is at risk but has not tested for the disorder.

“We were very well received,” Edília said. “It was a very productive meeting. We wanted to know why the Enroll application hadn’t been approved.”

According to Edília, Dr. Venâncio explained that the CHDI applicants had not answered all the questions posed in the government paperwork. In addition, the Brazilian officials disagreed with some aspects of the international research study standards included in Enroll-HD.

Edília cited the example of genetic testing. In the Enroll-HD program, which collects participants’ blood samples and tests for the HD genetic defect, the participants can decline to learn their genetic status.

“With the Brazilian government, the patient has to know,” Edília said, referring to the country’s rules for research studies.

As one of Edília’s relatives pointed out, Brazil’s requirement will diminish the number of volunteers willing to offer their blood for Enroll-HD. Scientists study aspects of the blood to advance the effort to discover treatments.

For those who would participate and learn their genetic status, either Enroll-HD or the local clinics involved in the program would need to provide genetic and psychological counseling, Edília explained.

As the Miranda family’s earlier experience with genetic testing starkly illustrated, Brazil lacks an adequate genetic counseling infrastructure. A recent news report noted that this continent-sized country has only 100 geneticists, for example.

A pledge to resolve issues

Despite this and other disagreements over protocol, Edília remained optimistic that Enroll-HD would enter Brazil. She said that Dr. Venâncio pledged to help resolve all of the pending issues. He guaranteed a response to a new application within three to six months, she said.

The Brazilian advocates also await resumption of the initiative at CHDI, where the long-time Enroll-HD coordinator, Joe Giuliano, recently left to take a position elsewhere.

“The coordinator of CONEP asked us to notify him as soon as we submit the new application so that he can give it priority,” Edília said.

Long-term hopes

My trip to Brasília marked milestones in my journey as a college professor, Brazil specialist, and Huntington’s disease advocate. I also had the chance to visit my brother-in-law and his family.

From April 25-28, I helped evaluate proposals to establish research in the social sciences and humanities to be funded by Brazil’s National Council for Scientific and Technological Development. The prestigious multidisciplinary meeting of some 40 researchers from around the world widened my perspective as a scholar branching into the history of science, technology, and medicine. I hope this endeavor will enhance my ability to interpret the history of the HD cause and advocate even more effectively for it.

On the evening of April 28, for my research on Brazilian politics, I attended a turbulent hearing of the committee installed in the Brazilian Senate to consider the charges of impeachment brought by the Chamber of Deputies against President Dilma Rousseff. On May 6 the committee voted 15-5 to recommend the charges to the full Senate.

I was thrilled to have the health and clarity of mind necessary to witness this historic moment: I had always thought that by now HD would have prevented me from taking the arduous trip to my second home.

Despite Brazilians’ current pessimism about their country’s immediate political and economic future, I felt a renewed sense of hope for the long term after meeting the Mirandas.

Led by Edília, they will not rest until the day HD no longer threatens their family and the families of so many others.

Gene Veritas (aka Kenneth P. Serbin, Ph.D.) at Brazil's Congresso Nacional building in Brasília, April 28, 2016 (photo by Lucas Souza)

Defeating Huntington’s disease starts with taking care of yourself and joining Enroll-HD

For those of us affected by Huntington’s disease or at risk for it, the fight against the disorder begins by taking care of ourselves.

This idea occurred to me during my daily morning meditation on Jan. 14, 2016, as I anticipated my annual checkup in the Enroll-HD program later that day.

Many people struggling to come to terms with HD ask: with so much to worry about, how can I contribute to the cause?

You can start simply by committing to care for your health and asking family members and others to help monitor your condition. In doing so, you will help your family, too, by preparing for and perhaps even diminishing the current or eventual caregiving burden associated with Huntington’s.

You can extend that assistance to the entire HD community by joining Enroll-HD, a worldwide registry of affected individuals, asymptomatic HD gene carriers, untested at-risk individuals, and other family members. With its growing database, Enroll-HD serves as a platform and research project aimed at facilitating clinical trials and the discovery of treatments.

The greater the participation in Enroll-HD, the faster trials can take place.

Helping the researchers

Not long after learning of my own risk for HD in 1995, I started participating in research projects based at the University of California, San Diego (UCSD), and San Diego State University (SDSU) (click here to read about one example).

In January 2015, shortly after my participation in the PREDICT-HD study ended, I registered in Enroll-HD.

At this month’s follow-up visit at the UCSD Huntington’s Disease Clinical Research Center, I once again gave blood that scientists can use in the numerous research projects facilitated by Enroll-HD. I also underwent a battery of cognitive tests.

In addition, I participated in four research projects by scientists at UCSD, SDSU, and other local institutions. Two involved standing on high-tech platforms designed to detect  balance problems in people who have brain disorders and concussions. Another involved a measure of fine motor skills, which are seriously affected in HD, by writing on a special tablet connected to a computer.

Finally, I spit into a tiny collection tube for a project involving the detection and study of the huntingtin protein in saliva. Abnormal huntingtin causes HD.

Gene Veritas (aka Kenneth P. Serbin) writing on an experimental tablet (above) and standing on a platform to detect balance problems (below) (photos by Ayesha Haque)

A neurological exam

My visit concluded with a standard neurological exam by Jody Corey-Bloom, M.D., Ph.D., the director of the UCSD clinic. Among other tasks, I had to follow her fingers with my eyes, rapidly tap together my thumb with my index and middle fingers, and walk down a straight line for about 25 feet.

To my great relief, Dr. Corey-Bloom noted no irregularities! At 56, I am now past the point at which my HD-stricken mother displayed the characteristic involuntary movements.

Afterwards, I discussed with Dr. Corey-Bloom my questions and concerns about my potential participation in the SIGNAL clinical trial to test a monoclonal antibody as an HD treatment.

I will soon provide an update on SIGNAL.

Enroll-HD’s positive impact

The next day, I obtained the latest news about Enroll-HD from Joe Giuliano, the director of clinical operations for CHDI, the multi-million-dollar nonprofit virtual biotech aimed exclusively at developing HD treatments. In collaboration with HD research centers and clinics around the globe, CHDI sponsors Enroll-HD.

Enroll-HD officially launched in July 2012. According to Giuliano, as of January 15, nearly 9,000 individuals from 14 countries and 140 sites had signed up.

Has the program met CHDI’s expectations?

“I think there’s a high level of engagement among the patient community and among the investigators around the world,” he said during a phone interview. “The recruitment has been excellent. We could have 10,000 participants by the end of March, which would be amazing. I’m really pleased with how well the availability of the dataset and the biological samples [blood] has worked out. In other words, people are using the data, and the data is available through the website. It’s a great example of making data available quickly.”

What’s been the impact?

“We’ve been actively assisting three clinical trials that have been going on – PRIDE, Amaryllis, and LEGATO – with their recruitment,” Giuliano continued. “We have released our second periodic dataset, with 4,150 participants. There are 28 projects that are currently using Enroll-HD data, to answer different research questions. We’ve been actively distributing biological samples for a variety of projects.”

As a result of Enroll-HD, scientists are deepening their understanding of the disease, and doctors are finding ways to improve care.

Enroll-HD contributes directly to the quest for treatments. The larger the number of potential clinical trial volunteers, the greater the chance that trial administrators can enlist the required number for each trial. The number of HD trials has increased each year, increasing the demand for volunteers. Without the trials and the volunteers, scientists can’t test treatments.

Joe Giuliano (left) and Gene Veritas at a 2015 CHDI conference

Challenges in Latin America

On the downside, in one key region, Latin America, Enroll-HD has progressed “very slowly,” Giuliano said. So far, Enroll-HD is only operating in Argentina and Chile.

In October 2015, the National Research Ethics Commission in Brazil – the world’s sixth largest nation, with an estimated 20,000 HD-affected individuals – rejected the proposal to set up Enroll-HD there.

“Obviously we were very disappointed,” Giuliano said. “I think the National Research Ethics Commission rejected based on some areas where there was a perception that the Enroll-HD study was not aligned well with some of Brazil’s legal precedents.”

However, Giuliano said that Enroll-HD will step up efforts to involve Latin America’s HD families. With growing interest in Colombia, that country be the next to join Enroll-HD, he said.

“We’re working harder than ever,” Giuliano affirmed. “You haven’t heard the end of us in Brazil. We’re really committed to Latin America. Many of us believe that Latin America, like in the beginning of their history of HD research in Venezuela, which played an important role – now in the later stages of HD research it’s going to resurge, reawaken, and become an important player in HD research again.”

In a future article I will explore the Brazil decision in depth as well as ways HD families can push for greater acceptance of Enroll-HD there and in other countries of the region.

Building a common cause

As I approach the inevitable onset of HD and feel many of the other effects of normal aging, I realize more than ever the need to stay in shape via a healthy diet, daily stretching and aerobics, meditation and spirituality, and psychotherapy.

Without health, I cannot work, dedicate myself to my family, or advocate for the HD cause.

Caregivers, the "HD warriors" who enter the trenches each day, must also seek opportunities for respite.

With the significant progress towards HD treatments of recent years and growing awareness of the importance of HD and other neurological disorders, advocates have a busier agenda than ever.

I am thrilled to assist HD research and the implementation of the critical clinical trials by taking part in Enroll-HD.

After following the HD movement in Brazil for two decades and participating in the historic sixth World Congress on Huntington’s Disease there in September 2013, I aim to join my Brazilian HD brothers and sisters to advocate for reconsideration of the government’s rejection of Enroll-HD.

We must not lose the momentum in Brazil and Latin America!

Only by building this common cause can we ultimately defeat HD.

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.

Engaging a ‘scared population’ of Huntington’s disease families by respecting their journeys

The number of clinical trials for Huntington’s disease treatments has increased exponentially, pushing up the demand for volunteers. Now advocates ask a pressing question: how to inspire more affected families and individuals to participate?

I have addressed this theme with increased frequency in recent years, as in my last two articles (click here and here to read more). As a carrier of the devastating HD mutation who saw his mother succumb to the disease, I feel in my gut the urgency to involve other members of the community.

“If no patients or gene-positive people show up for trial participation there will be no novel treatments, ever!” Daniel P. van Kammen, M.D., Ph.D., wrote in an e-mail in response to my articles.

For several years, I have maintained a dialogue on this topic with Dr. van Kammen, from 2007-2011 the chief medical officer for CHDI Foundation, Inc., the nonprofit virtual biotech focused exclusively on developing HD treatments. A professor emeritus at the University of Pittsburgh, Dr. van Kammen currently serves as an independent consultant for central nervous system (CNS) clinical trial development.

“The notion that if you build it they will show up, just does not work!” Dr. van Kammen continued. “In general only 5% of people diagnostically eligible for drug development study participation, do so. This is fine for a large population with Alzheimer’s. Not for the HD community either at risk or diagnosed. So people have to come forward.”

As he indicated, there’s a relatively small number of HD-affected individuals, estimated at 30,000 in the U.S. By contrast, as many as 5 million Americans over age 65 may have Alzheimer’s.

Beyond that, a good number of HD-affected individuals cannot participate in clinical trials because of so-called exclusion/inclusion criteria. (I’ll write about this issue more in a future article.) So that leaves an even smaller number of potential trial subjects.

The Enroll-HD program, the global platform, research project, and family registry aimed at facilitating clinical trials and the discovery of treatments, recently marked its 5,000th registrant but needs as many as 25,000 more volunteers.

People deciding at their own pace

Over my nearly two decades of advocacy – my mother was diagnosed in 1995 – I have learned that it’s important to respect the unique journey of each individual touched by HD. Without that respect, we cannot begin to engage what Dr. van Kammen described as a “scared population.”

From a pure research standpoint, the more at-risk people who test for the HD gene, the better. Despite the enormous psychological burden of knowing that I will develop HD, I don’t regret undergoing genetic testing.

I often wish that more individuals from the untested at-risk pool – the vast majority of those people don’t  get tested – would also test and/or participate in programs such as Enroll-HD, which doesn't require that people learn their genetic status.

But then I remember how I wanted to get tested immediately after learning of my mother’s diagnosis. I postponed the decision after receiving advice regarding the discriminatory consequences of testing, and, more than three years later, bit the genetic bullet because my wife and I wanted to know my status before starting a family. Six months later our daughter tested negative for HD in the womb.

What a journey!

When I meet people new to HD, I am aware that I can offer ample advice based on experience. However, I stick to the basics, allowing them to ask questions and share their stories and fears at their own pace. I remind myself that testing for HD is often an extremely trying process, with implications for the extended family. This personal decision requires time and reflection.

People new to HD are embarking on their own journeys based on their backgrounds and particular point in life.

The same respectful approach applies in encouraging people to attend a support group, visit the local HD clinic, participate in fundraising activities, and enrolling in studies and clinical trials.

The dynamics can be complex. In the face of HD, many families close ranks. However, many split, beset by fear, denial, and the stigma of HD.

Activists’ self-respect

I have received enormous respect from my fellow HD advocates.

We activists must always remember to respect our own journeys.

At 55, I have passed the age of my mother’s HD onset. Each day without symptoms is a gift.

To maintain self-respect, I must allay guilt about doing too little for the cause. I especially feel this way when missing a support group meeting or a local event of the Huntington’s Disease Society of America (HDSA).

Lately I have also faced advocacy fatigue. However, seeing other, often less fortunate families suffer from HD – like the young man holding his HD-stricken grandmother or the family with members stricken by both adult-onset HD and juvenile HD – leads me to gird myself again for the fight. On April 11, at an HDSA educational event at the William W. Backus Hospital in Norwich, CT, I will share my story and the hope offered by the upcoming gene-silencing clinical trial planned by Isis Pharmaceuticals, Inc., and Roche.

In re-engaging, I remind myself that my journey is unique, too, with my own particular moments and needs.

Enjoying the present, planning the future

Twenty years into the cause and ever closer to disease onset, I need to focus on my health, enjoying life, and my family.

With a sabbatical from teaching duties, I am also writing a long-gestating book on Brazilian politics that I had partially put aside because of my work as departmental chair the past five and a half years and my developing interest in the history of science, technology, and medicine.

As our daughter approaches college age and my wife and I initiate conversations about retirement plans, we are also focusing on shoring up the family finances. As all HD families know, losing a working family member to the disease not only severely reduces family income but also creates a caregiving burden very costly in both time and money.

Luckily neither of lost our jobs in the Great Recession, but like many Americans in the eroding middle class we have received little or no increase in income during the recovery.

At 55, I also face the normal challenges of aging. Over the past eight months I have struggled with a nagging elbow pain that has prevented me from swimming, my preferred exercise and excellent for cardiovascular and brain health. Luckily, with my doctor’s okay, I am back swimming, although the pain continues. Because of pain elsewhere in the body, I have spent many an hour at physical and occupational therapy sessions.

I want to remain as limber as possible to facilitate coping with HD symptoms (more on this in a future article).

I also continue to exercise my mind. As I wrote to an old friend regarding the recent tenth anniversary of this blog and its 200th article, “Writing for survival is my motto.”

Affirming the good in our lives

Like many others in the HD community, my journey has deepened my search for spiritual meaning.

I have added another book to my morning meditation, Gratitude Works!, a book about gratitude journaling by Robert A. Emmons.

Writing regularly about the positive experiences in our lives promotes a shift in awareness from “what we are lacking to the abundance that surrounds us,” Emmons writes.

“Gratitude leads us to affirm and acknowledge the good things in our lives,” he adds.

Our community has immense suffering, but is also has immense good.

I am grateful for remaining asymptomatic today, for the many people bravely struggling to come to terms with HD, and for the great respect the members of the HD community have for each other as we live our unique moments together.

I’ll be even more grateful when more people enroll in clinical trials. Yes, we may be a “scared population.” But we may also be a “sacred population,” one dedicated to a deeper purpose, helping to conquer this awful disease.