Lessons from the Maui wildfires for human solidarity and the fight against Huntington’s and other diseases

 

In late June – vacationing in the balmy Hawaiian town of Lahaina – my wife Regina and I snorkeled at Pacific Ocean coral reefs teeming with marvelous aquatic life, dined on succulent seafood, and recharged our emotional batteries after a difficult first half of 2023.

 

We had celebrated our 30th wedding anniversary by traveling to Hawaii for the first time, to the islands of Kona and Oahu, in March 2022. I had never expected to reach my early 60s healthy: I carry the deadly gene for Huntington’s disease, which took my mother at 68. Inspired by the spirit of aloha, we returned with our daughter Bianca in July 2022, this time to Lahaina, on the island of Maui, to celebrate her college graduation.

 

Now, we are alarmed by the massive destruction of Lahaina’s historic core on August 8 by wildfire, and the impact on the rest of Maui. As of August 14, 96 people had succumbed to the fire. This was the deadliest wildfire in the U.S. in over a century, resulting from sweeping long-term human-led changes to the Hawaiian landscape, climate change, and seeming poor preparedness by public officials.

 

We were heartbroken to learn of the deaths and how the fire burned down museums, restaurants, and stores that we had visited on Front Street, the historic main drag dating back to Lahaina’s time as the capital of the Hawaiian kingdom and whaling center in the 1800s. More than 2,000 buildings were destroyed or damaged.

 

We were heartened to see how Hawaiians were coming together, with help from the mainland, to assist one another and express hopes for rebuilding.

 

Such devastation, I believe, is another reminder to strive for human solidarity in the face of global climate change, war, and disease – including devastating neurodegenerative disorders like HD and Alzheimer’s and the threat of future pandemics.

 

Gene Veritas (aka Kenneth P. Serbin) with exhibit of whaling equipment at the Lahaina Heritage Museum in the Old Lahaina Courthouse (photo by Regina Serbin). After the fires, only a shell of the building remains.

 

An overpowering nature

 

With the coronavirus pandemic, the war in Ukraine, and the climate crisis, the history of humanity and the environment may have reached a tipping point.

 

In July, as the world experienced record temperatures, United Nations Secretary-General António Guterres declared that global warming has become “global boiling.”

 

The fires at Lahaina and other parts of Maui reminded Regina and me of the overpowering nature of wildfires in California, which in recent decades have burned ever more acres, taken lives, and forced evacuations.

 

In 2003, during the massive, deadly Cedar Fire, we and thousands of other families were forced to leave our homes in our San Diego residential neighborhood homes; for two long days we wondered whether we would have a home to return to. We saw flames rising 40 or 50 feet into the air as we drove off in our vehicles. Several homes in our neighborhood burned down. Many other neighborhoods also had to evacuate.

 

Significantly, this fire was not restricted to the backcountry but reached into the suburban neighborhoods of the city of San Diego.

 

In Hawaii, a group of youth are suing the state’s Department of Transportation over climate change. In another case involving young people, on August 14 a Montana judge ruled..that the state's failure to consider climate change when approving fossil fuel projects was unconstitutional.

 

Regina and I are exploring ways to lessen our impact on the environment.

 

Keeping the momentum on disease research

 

There is no arguing with nature.

 

With this new reality, as the climate crisis threatens to deepen, societies could have fewer resources for combating disease because of the need to prioritize saving the environment.

 

There is also no arguing with biology. I have endeavored to avoid HD onset through building new avenues of enrichment and building meaning and purpose, including my new interest in the history and culture of Hawaii – stimulated yet further, though in a tragic sense, with Lahaina’s traumas.

 

After our trip to Lahaina, I underwent surgery on my left hand to repair the damage wrought by another biological reality: arthritis and tendonitis. The hand had become painful and weak. I wore a cast for a month, and am now undergoing physical therapy.

 

As with a hip or knee replacement, I am hoping that the operation will restore full use of my hand for many years, and to enable me to work, exercise, and carry out daily activities to reinforce my overall health in the fight against HD.

 

Not having to worry about the hand will also provide an important psychological boost.

 

Our concerns about the environment come precisely as the search for cures for neurodegenerative diseases got some good news: for the first time, the FDA has approved two drugs that have shown efficacy in slowing the progression of Alzheimer’s (click here and here to read more).

 

We need to have that momentum carry over to HD and other diseases. After having to step away from advocacy earlier this year, followed by weeks of inactivity due to my operation, I hope to return to regular reporting of the quest for HD therapies.

 

Gene Veritas recovering from hand surgery (photo by Regina Serbin)

After another critical Huntington’s disease clinical trial proves negative, a time to embrace self-care and caregiving

 

A long-awaited clinical trial of a drug aimed at improving daily function  in the early stages of Huntington’s disease has produced negative results, Prilenia Therapeutics announced on April 25 at the American Academy of Neurology meeting in Boston.

 

According to Prilenia, the drug, pridopidine, failed to show improvement for trial participants on its primary and secondary measurements of symptoms (endpoints).

 

"Unfortunately, the failure of the PROOF-HD trial to meet its primary endpoint in preliminary analyses is a huge disappointment for the HD community,” Jody Corey-Bloom, M.D., Ph.D., the director of the Huntington’s Disease Society America (HDSA) Center of Excellence in San Diego, wrote me in an e-mail on April 25. “There was, however, some suggestion of benefit on other clinical measures, particularly a computerized assessment of motor function [a person’s movements], and I suspect we will see additional detailed analyses in the coming months.”

 

“We won’t sugar-coat this: the trial results were unfortunately negative,” the HD science site HDBuzz concluded. “The drug did not slow progression of HD as measured by the TFC [Total Functional Capacity]. Failing to meet its primary endpoint means that pridopidine will not get licensed by the FDA and other regulatory agencies.”

 

“The data obtained as part of the study remain useful and will be analyzed further for new insights they can provide,” Martha Nance, M.D., the HDSA Center of Excellence director in Minneapolis, wrote me. “We will not stop looking for better answers.”

 

Seeking a disease-modifying therapy

 

As an HD gene carrier who will inevitably develop symptoms, I had hoped to take pridopidine – if prescribed by a doctor – to help prevent or slow disease onset and maintain my daily activities. At 63, I have reached far beyond my HD-stricken mother’s onset in her late 40s. She died at 68.

 

Pridopidine would have been the first drug to potentially affect the progression of HD. Also, unlike drugs in other key trials that require spinal injection or direct injection into the brain (requiring an operation), pridopidine is a pill.

 

The news about pridopidine is the latest in a series of disappointing clinical trial news over the past two years. Last October, the highly innovative Triplet Therapeutics, Inc., had to shut down because of investor nervousness about the HD field. In December, Novartis had to end a program of developing its own pill for HD, branaplam, because of serious side effects in volunteers in a clinical trial.

 

PROOF-HD was a definitive Phase 3 trial. There are no other Phase 3 HD trials in progress for disease-modifying therapies.

 

Researchers remain hopeful that they will ultimately develop effective therapies. In January, Roche announced the start of GENERATION HD2, a second, less ambitious clinical trial of its gene-silencing drug tominersen. Other trials are in progress. This week, scientists and drug hunters focused on the cutting-edge developments at the 18th Annual HD Therapeutics Conference in Dubrovnik, Croatia (click here to read more).

 

Prilenia CEO and founder Michael Hayden, M.D., Ph.D., reporting the negative results for improvement in Total Functional Capacity in PROOF-HD participants at the HD Therapeutics Conference, April 27, 2023 (photo from HDBuzz)

 

Stepping back from advocacy

 

With the rest of the HD community, I have been riding the “clinical trial roller coaster” of emotional ups and downs in the quest for therapies.

 

I am also acutely aware of the passage of time – and that I may never get to participate in a clinical trial. GENERATION HD2, for example, restricts participation to ages 25-50. In the 30 years since the discovery of the huntingtin gene, we still have not seen a therapy to slow, stop, or reverse the disease. This month marks 25 years of my work as an HDSA volunteer advocate.

 

Recently, due to unforeseen circumstances unrelated to HD, I have had to step back from my advocacy, including this blog. My current challenges come on top of the juggling act that has characterized my fight against HD since my mother’s diagnosis in 1995 and positive test for the mutation in 1999.

 

So I have struggled to maintain my sense of meaning and purpose – crucial in slowing cognitive decline in HD. 

 

I have thus felt the need to concentrate on self-care. I believe there is wisdom in recognizing the importance of self-care – especially for someone like me facing a challenge for which science has yet to find an answer.

 

As I have learned, my first obligation is to my own health – remaining symptom-free and therefore fully available for my family, friends, and others I love and care for.

 

In this blog I have aimed for transparency about my health. For my own and the community’s benefit, I have sought to report accurately and thoughtfully on the quest for therapies, the endeavor to provide better care, and the many ramifications of HD (click here to read more).

 

Prioritizing diet, sleep, and exercise

 

So, as an advocate striving to be the best version of himself, I want to embrace self-care.

 

Last August and September, though fully vaccinated and having masked except for meals, I fought off an infection of COVID-19 caught in Boston while attending HD2022: Milton Wexler Biennial Symposium, sponsored by the HD-focused Hereditary Disease Foundation. I have been deeply concerned about COVID-19 because of the many instances of long COVID, the disease’s neurological symptoms, and the devastating impact on people in their 60s and older.

 

The pandemic has highlighted the need for self-care and caregiving.

 

To continue HD-free, I must prioritize the triad of a healthy diet, adequate sleep, and regular, vigorous exercise. I tell myself about swimming: in terms of health, “this is the most important thing you can do today.”

 

Recently, after challenges replacing my retired psychotherapist of 24 years, I began working with a new therapist – a profound form of self-care.

 

Self-care for me also includes continued participation in Enroll-HD and other HD research studies.

 

 Gene Veritas (aka Kenneth P. Serbin) swimming in his backyard pool (family photo)

 

Addressing deficits in care and caregiving

 

With the negative results from PROOF-HD and other recent trials, I am reminded of the debate and tensions over “care versus cure” that I witnessed at the start of my HDSA advocacy in the late 1990s and early 2000s. We need both. I saw my mother’s desperate need for care as HD devastated her and fought with fellow advocates to support the search for a cure.

 

As I age, and with the continued lack of effective therapies, the likelihood that I will not take a disease-modifying drug increases – as does, therefore, the likelihood that I will need caregivers. For HD gene carriers like me, improvements in caregiving will become essential.

 

As one key study has shown, serious deficits HD in care and caregiving remain, and plans for addressing this issue remain aspirational.

 

Most HD funding goes to biomedical research. Greater resources for HDSA and other patient advocacy organizations could help address the care and caregiving shortfalls.

 

Being patient and gentle with human fragility

 

Upon entering this world, we are all subject to illness, both genetic and non-genetic. The fight against HD, COVID-19, and other illnesses highlights our human fragility.

 

We are all potential caregivers and recipients of care, at various times in our lives.

 

I have found heart in the words of Pope Francis during his historic May 2017 audience with the HD community at the Vatican, which I attended with my family: “Fragility is not an ill, and disease, which is an expression of fragility, cannot and must not make us forget that in the eyes of God we are priceless. Disease can also be an opportunity for encounter, for sharing, for solidarity.”

 

As I patiently and gently await the recharging of my mental and spiritual batteries, I am mindful of my own – and others’ – fragility and the new opportunities for solidarity in achieving research progress and improved caregiving.

Passing on the Huntington’s disease advocacy baton to the next generation

In the fight against Huntington’s disease, a familial condition that can plague generations, each generation must pass on the advocacy baton to the next.

I feel as though I've started my handoff to my daughter Bianca.

HD has profoundly affected my family in multiple ways. My mother was diagnosed with HD in 1995 and died from it in 2006 at age 68. I tested positive for the genetic defect in 1999, and have been racing against the genetic clock ever since. Bianca, thankfully, tested negative in the womb in 2000.

At 57, an age when my mother had chorea (involuntary movements) and severe cognitive loss, I am blessed to have remained symptom-free. However, because HD gene carriers inevitably develop the disorder, I know that, unless scientists discover an effective treatment, I will someday become ill.

HD families must stick together to confront the devastating symptoms, caregiving demands, and difficult challenges the disease brings, but it’s by no means easy.

Avoiding the denial that prevents family solidarity and feeds ignorance about the disease, my wife Regina and I have revealed to Bianca at appropriate moments how HD has impacted our family. We have done so gradually but always honestly. Often, we spoke about HD in response to her questions. (To read more, click here and here.)

Gene Veritas (aka Kenneth P. Serbin) with daughter Bianca and wife Regina (2016 family photo)

A biology assignment

Now 16, Bianca is a healthy and vibrant high school junior. She has frequently read this blog and over the years has participated in several fundraising events for the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego).

Her gene-negative status means that the threat of HD stops with me. Of course, she is concerned about my health, and she is deeply saddened by the plight of juvenile HD patients. She has volunteered for HDSA-San Diego.

Last week she worked on an assignment for her high school biology class titled “A Day in the Life: A Study of Human Genetic Disorders.” From a list of diseases, she chose HD. Drawing on medical and scientific sources, she wrote a four-page summary of the biology of HD, symptoms, its rare status, age of onset, and potential treatments.

Life with HD

For the required creative component of the assignment, Bianca wrote an imaginary patient journal titled “Life with Huntington’s Disease,” from the perspective of this blog, her conversations with me, and her observations over the years.

Bianca captured the sadness, anger, and fear associated with HD. In one excerpt, she wrote:

Today was a bad day. It has been hard lately to ignore HD. I wish I could say I don’t think about it all the time, but I do. Especially now that Mom is getting worse. She can barely walk at this point. Dad helps her eat, shower, use the bathroom, and dress herself. It’s hard for me to see my mom act in a more childish manner than my three-year-old daughter. It’s hard for me to see my mom this way because I know that I will one day experience the same thing. I feel exceptionally lonely nowadays. I know others who struggle or who have struggled to take care of someone with HD, but I somehow feel like my situation is unique, somehow worse than everyone else’s.

However, Bianca also portrayed the strength and hope of HD families and advocates, writing:

Perhaps the best part of having HD is getting to meet so many people who are involved with the cause. The Huntington’s Disease Society of America is one of the most supportive groups of people I have ever worked with. Few know the struggle that accompanies this disease. It’s nice to be able to talk to people who do, people who have lost loved ones, as I have, to this horrible sickness, people who, like me, are at risk.

Bianca Serbin (photo by Gene Veritas)

Honesty and family solidarity

Reading Bianca’s words, I know that HD is forever seared into her consciousness.

I was deeply moved by her decision to write about our family’s struggles with Huntington’s. I am very proud of her.

The experience reinforced the necessity of accurate, patient, and, above all, honest communication within Huntington’s families.

In our conversations last week many powerful memories came to the fore. Bianca told me that one of her earliest recollections was of us visiting my parents’ home in Ohio (she was three) and seeing my father and me help my mother after she fell on the floor.

Bianca learned from me last week how the disease could potentially affect other members of our extended family.

As I looked at her, I felt an immense sense of relief that she is HD-free. I also felt wonderful anticipation: in less than a year she will be applying to college.

‘Don’t worry for now’

At the conclusion of our conversation the night before Bianca turned in the assignment, we discussed the fact that the greater the genetic defect (gene expansion), the earlier the onset.

We inevitably focused on my potential age of onset, ranging from the late forties to the late sixties.

“Hopefully I will get sick only in my late sixties,” I told Bianca.

“Or maybe you’ll get sick even later – or not at all!” Bianca responded optimistically.

We discussed the hope of clinical trials.

A bit later, determined not to let all this hinder her life plans, I told her gently: “Don’t worry about HD for now. That’s something off in the future.”

Bianca and Kenneth Serbin (family photo)

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)

‘None of us are free until we are all free’: science and solidarity at the 10th Annual Huntington’s Disease Therapeutics Conference

Riding the emotion of a keynote speech by a young scientist at risk for Huntington’s disease, and seeking treatments with the immense help of a non-profit foundation, the participants at a historic research conference this week witnessed the fusion of science and human solidarity ultimately necessary for defeating HD.

On the evening of February 23, I and the approximately 300 attendees at the 10th Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., listened as Jeff Carroll, Ph.D., recounted his mother’s demise from HD, his positive test for the HD genetic mutation, and his decision to pursue a career in science to save himself and others from HD.

“He’s an interesting combination of things in terms of being an advocate in the community, in terms of being someone from an HD family, in terms of being a top-flight researcher in the HD community, in terms of being a great communicator – he and his partner Ed Wild – in establishing HDBuzz, which is just a tremendously useful model of how to communicate results out to the rest of the community,” Robert Pacifici, Ph.D., CHDI’s chief scientific officer, said in introducing Dr. Carroll at the conference in Palm Springs, CA.

As an HD researcher-advocate who has attended all ten therapeutics conferences since 2006, Dr. Carroll offered a uniquely qualified, candid assessment of the progress towards treatments and CHDI’s role in the process.

“Every year, I come home revitalized and energized by the site of so many smart people working so hard on this problem,” Dr. Carroll, 37, told the audience in the main ballroom at the Parker Palm Springs hotel. He expressed his profound gratitude to CHDI, which has funded his and numerous other scientists’ research.

Painful progress toward success

However, success depends on the “efficient and timely completion of well-designed Phase III trials with HD drugs,” Dr. Carroll continued.

“A few weeks ago I attended a meeting at the Princeton CHDI office that included attendees from major pharmaceutical companies currently running HD clinical trials,” he said. “They are deeply concerned about something that would never have occurred to me to worry about, which is poor recruitment for trials of Huntington’s disease drugs.

“On reflection, it makes sense that the HD community may be wary of the way we have been speaking to them. Participating in the first clinical trial of a new molecule might be exciting, but participants of the third could be excused for having some questions.”

Trial administrators put participants through a daunting number of tests, he observed, which may discourage people from participating in more than one trial. Because trials are extremely expensive, sponsors often try to maximize the findings in Phase II, but not enough trials are reaching Phase III, he added.

“It must be said the scale of what is possible here must be unique in human history,” Dr. Carroll said of the efforts by CHDI, which has put more than $700 million towards treatments. “Resources on the scale being deployed by CHDI have been spent on common diseases, but never before have they been spent on such a focused attempt to ameliorate a rare disease.”

The HD community will achieve “something never done before” or “fail majestically,” he quipped with irony.

He added: “We might actually be watching the painful progress toward success.”

You can watch Dr. Carroll’s speech in the video below.

None of Us Are Free Until We Are All Free: A Keynote Speech on Huntington's Disease by Dr. Jeff Carroll from Gene Veritas on Vimeo.

Our brothers and sisters

After Dr. Carroll and his wife Meghan had HD-free twins, thanks to preimplantation genetic diagnosis (PGD), he believed that “HD is done killing people in my family until I am gone,” he recalled.

However, recently two at-risk babies were born in his extended family.

“For a brief window, my family was the last that had to face this awful threat,” Dr. Carroll said. “But the arrival of these children has reminded me that none of us are free until we are all free.”

We must “raise up those of our brothers and sisters still suffering,” he concluded.

Like me, Dr. Carroll is racing against the genetic clock.

Crying for our community

This conference, my fifth, has proved especially poignant for me personally – even more so than the 2011 meeting, which I keynoted. In terms of the quest for HD treatments, it has been a landmark event. (My next article will provide an overview of the conference’s scientific aspects.)

I was both deeply saddened and heartened by Dr. Carroll’s story. I relived my own mother’s death from HD in 2006, my positive test for the gene in 1999, and my daughter’s negative test for HD in the womb (PGD was unavailable) in 2000.

It was one of the best speeches I have heard in two decades of observing the HD movement. Dr. Carroll tempered his enthusiasm and compassion for the HD community with hard-nosed, no-nonsense scientific analysis.

For the evening of February 25, the conference organizers arranged for a surprise outdoor screening of the 28-minute documentary The Lion’s Mouth Opens, about actress, director, and producer Marianna Palka’s positive test for HD. The film made the 2015 Academy Awards shortlist for Best Documentary Short.

As part of the surprise, Marianna, whom I had met earlier in the day, took questions from the audience. She appeared at the edge of the crowd, next to me, just as the film was ending.

Gene Veritas (left, aka Kenneth P. Serbin), Marianna Palka, and Louise Vetter, CEO of the Huntington's Disease Society of America (photo by Jerry Turner, CHDI)

It was a highly emotional experience for me. Filled with anger, frustration, and overwhelming sadness that a young person like Marianna should have to face HD, and once again reliving the trauma of my own HD test and the excruciating experience of testing our daughter, I hugged Marianna and cried uncontrollably for several minutes as she held and consoled me.

It’s so unjust that people have to face HD, I thought to myself.

I hardly ever let myself think that, trying to be strong, but at that moment I allowed myself to do so, and also to let loose all of the powerful emotions of the conference.

I told Marianna I was so sorry for her.

Marianna, who is just 33, was strong, telling me that we would all work together against HD.

After the film finished, Marianna talked with the audience about her experience of genetic testing, her strategies for staying healthy, and her work in film. She observed that The Lion’s Mouth Opens makes men cry.

You can watch Marianna’s exchange with the audience in the video below.

'The Lion's Mouth Opens' and Marianna Palka on Huntington's disease from Gene Veritas on Vimeo.

Enrolling families in the fight

At the start of the conference, I had lunched with Joe Giuliano, the CHDI director of clinical operations in Princeton, N.J., HD advocate Jimmy Pollard, and Chris Brown, a scientist from Evotec, a drug discovery company headquartered in Germany.

We pondered the same critical issue raised by Dr. Carroll, and that brave advocates like Marianna impel us to consider: how to inspire more families in the HD community to become involved in research studies and clinical trials.

I recalled my own speeches and blog articles about the terrible barriers to greater involvement: ignorance, fear, denial, stigma, and family tensions.

Giuliano is also the chief CHDI administrator for the Enroll-HD program, a global platform, research project, and HD patient and family registry aimed at facilitating clinical trials and the discovery of treatments. As Giulano and others have noted, it is not scientists who cure diseases, but the patients who participate in clinical trials.

That observation provides a fitting coda to Dr. Carroll’s speech.

And it underscores the absolute necessity to fuse science and solidarity in the fight against not just HD, but all diseases.

For an update on Enroll-HD, watch my interview with Giuliano below.

An Update on Enroll-HD from Gene Veritas on Vimeo.

A personal landmark, and gratitude

With this article I have completed my own HD milestone: it is the 200th post in this blog.

I am grateful to so many: God, my wife and daughter, my HD-victimized mother Carol Serbin, my HD-warrior father Paul Serbin, who died with a broken heart in 2009, CHDI, and the entire HD community.

Although I worry that my overly emotional response to the conference could signal the mood swings characteristic of early HD onset, I am also grateful that I remain, according to my last neurological checkup, asymptomatic.

As I prepared to depart the conference, I pondered how the HD movement can reinforce human solidarity and our bond with the researchers.