A proud Huntington’s disease gene carrier’s message to his ‘miracle baby’ daughter on her senior year in college

 

When I tested positive for the Huntington’s disease genetic mutation in 1999, at 39, I was convinced I was doomed to repeat my HD-stricken mother’s onset of symptoms in her late 40s.

 

I had tested because my wife Regina and I wanted to plan for children, who, if I had the mutation, would also have a 50-50 chance of inheriting it.

 

We decided to have a child before the availability of preimplantation genetic diagnosis (PGD), which involves in vitro fertilization of embryos without the mutation. So, we had our daughter Bianca tested in the womb. Her negative result in early 2000 was one of the happiest moments of our life. She was our “miracle baby.”

 

Now, 21 years later, Bianca has started her senior year at the University of Pennsylvania, where she is finishing a U.S. history honors thesis. She has flourished in her classes and successfully taken on several leadership roles.

 

Bianca understood from about the age of two that her grandmother was ill with a genetic disease. HD transformed my mother into a mere physical and mental shadow of herself, taking her life at 68 in 2006. Four years later, when Bianca was 9, she learned that I, too, was at risk but that she was not.

 

I have been extremely lucky. I am almost 62 and was found to have no HD symptoms at my recent annual neurological checkup. I have perhaps benefited from the positive action of modifier genes and a far greater opportunity than my mother had – we had never heard of HD prior to her diagnosis – to prepare for the disease.

 

As Bianca navigates the challenges of senior year and prepares for post-college life, I want to provide her with a message of hope, challenge, and some of the wisdom I have picked up along my own life’s journey, including our family’s struggle against Huntington’s. My letter to Bianca follows after the photo below.

 

Regina Serbin (left), Gene Veritas (aka Kenneth P. Serbin), and Bianca Serbin at the Edge sky deck during a visit to New York City in August 2021 to celebrate Bianca's 21st birthday (photo by Devon Riley)

 

Dearest Bianca,

 

When you graduate next May, you and your classmates will come of age at a time of immense challenges.

 

I am impressed with how you (and so many other students of all levels) have shown great fortitude and flexibility when forced into the new reality of online learning and social distancing during the monumental disruptions of the COVID-19 crisis.

 

I was happy to see that this semester Penn has moved students back into the classroom, allowing you to recover some of the lost joy of the college years.

 

With the rapid development of highly effective RNA-based vaccines, many of us are reaping the fruits of the biotechnological breakthroughs of our era. Researchers are also exploring a variety of such genetics-based approaches as potential Huntington’s treatments. Because many of these advances promise to change our very nature, they will pose ethical dilemmas.

 

Our family has lived this in the flesh. The biomedical revolution made it possible for you to know your life will be free of Huntington’s. However, as you have learned, being HD-free does not mean being challenge-free. Far from it!

 

But the freedom from HD has enabled you to plan a life in which you can strive for academic and professional excellence, and to develop your personal qualities.

 

As you venture forth, remember always that you’re not going it alone. You can rely on others, just as you should be available to support others. Life is a collective endeavor, as our family has learned so well from the fight against HD. As I always tell people dealing with the initial shock of discovering Huntington’s in their families, “together we will beat this disease!”

 

In your drive for personal success, cherish the preciousness of time, as I have learned to do in confronting the fears of HD. Use ambition to push ahead, but don’t let it dominate your inner good. Always make time for family and friends.

 

Take time to meditate and cultivate your spirituality, because I believe that we all have such a dimension, independent of any belief system or organized religion. As you have done at Penn, find ways in your life to connect to something larger than you.

 

Bianca, I’m elated with how we have come to share many passions: for writing, the study of history, historical movies (especially war films), music, our dog Lenny, and our family.

 

Because of HD, your grandmother could barely hold you as a baby. Your “HD warrior” caregiver grandfather loved you deeply. I wish they could have shared your college years.

 

I have not wanted you to worry about me getting HD, which is a major reason that I have strived so hard to maintain good health – and to support the search for treatments that could save me from HD’s inevitable though often unpredictable symptoms.

 

You and Mom have joined me at Hope Walks and other fundraisers, and in 2017 you gave up the chance to attend your junior prom to take part in Pope Francis’ special audience with the HD community in Rome. I so deeply appreciated having you by my side during that breathtaking moment.

 

I am thrilled and thankful to have the clarity of mind to enjoy your progress towards graduation. You have made me deeply proud.

 

Because of our and so many other families’ dedication to the HD cause, and also thanks to the researchers, I remain ever hopeful for an HD treatment in my lifetime. If that moment comes, I know that no matter where you are geographically and professionally, we will celebrate with tears of joy.

 

I hope HD strikes me minimally and very late in life, as I have seen in some cases. Together our family has seen many people with HD fight tremendously to overcome the disease, and their caregivers devote every ounce of strength. As it has throughout our journey, the hope for both my good health and the arrival of treatments will continue to sustain us ­– even beyond the start of any symptoms that might occur.

 

No matter what difficulty, please remember that I have always treasured our great moments together and watching you grow as a person.

 

No one knows what tomorrow will bring. In this moment, let’s cherish the positive, including the fact that you, Mom, and I are healthy. As your senior year progresses, I want to celebrate our joy together as you prepare to graduate.

 

Raising you has brought Mom and me greater meaning and purpose – and, above all, lots of love to share.

 

Healthy and ambitious, you are poised, with your generation, to leave your mark on the world.

 

Congratulations on your senior year! Enjoy the ride!

 

Love,

 

Dad

 

 

 

The Serbin Family Team of the Huntington's Disease Society of America San Diego Chapter's  2014 Hope Walk: from left to right, Dory Bertics, Bianca Serbin, Jane Rappoport, Gary Boggs, Yi Sun, Kenneth Serbin, Regina Serbin, and Allan Rappoport (photo by Bob Walker)

‘Inequality is unsustainable’: a view of the quest for Huntington’s disease treatments from the Global South

(I dedicate this article to the worldwide HD community as we mark Huntington’s Disease Awareness Month in many countries around the planet.)

 

Both the COVID-19 pandemic and the quest for treatments for rare and genetic diseases have laid bare deep social divisions across the world, and it behooves the scientific establishment to help resolve this ethical dilemma, says a leading Brazilian Huntington’s disease clinician.

 

“The world should not be divided between those who have money and those who don’t,” Mônica Santoro Haddad, M.D., a neurologist with 33 years’ practice at the Universidade de São Paulo (USP) School of Medicine, told me in an April 30 Zoom interview about the 16th Annual HD Therapeutics Conference. “The pandemic has already shown us that. This inequality is unsustainable.”

 

Dr. Haddad has assisted HD patients from 600 families at the USP neurology clinic and her private office. A participant in the 2013 Therapeutics Conference in Venice, Italy, and 2014 meeting in Palm Springs, CA, she watched all of this year’s three-day virtual event (April 27-29) online. The conferences are sponsored by CHDI Foundation, Inc.

 

“What we’re witnessing in Brazil [regarding the pandemic] is immoral – Brazil in relationship to the world and Brazil in general,” Dr. Haddad observed, speaking in her native Portuguese. “Two categories of people have been created: those with the vaccine, those without the vaccine.”

 

A South American giant struggles

 

Sadly, Brazil ranks second in the world behind the United States with more than 428,000 COVID-19 deaths.

 

As a history professor, I have dedicated much of my career to the study of Brazil, a country that I consider my second  home; my wife is Brazilian, and her extended family is there. Along the way, I have witnessed the development of the Associação Brasil Huntington and built ties to its leaders.

 

A major country of the Global South – the world’s developing countries – Brazil has an estimated 20,000-plus afflicted individuals and an active HD movement. An enthusiastic group of some 30 Brazilians took part in #HDdennomore, Pope Francis’ special audience with the HD in May 2017. Francis, a native of Argentina, is also the first pontiff from the Global South.

 

However, although Brazil’s medical system has gained international recognition for past vaccine campaigns and its model fight against AIDS, during the pandemic the country has lacked hospital beds, cemetery plots, and basic supplies. Like Donald Trump, Brazilian President Jair Bolsonaro denied the crisis, downplayed the dangers, and actively denounced such measures as mask-wearing.

 

In addition, Brazil has fallen victim to the international inequities in the rollout of vaccines. Both U.S. President Joe Biden and former Brazilian president Luiz Inácio Lula da Silva – a likely candidate in the 2022 presidential election – have backed waiving COVID-19 vaccine patents to assure global access.

 

Brazil’s deep internal disparities have led to inadequate vaccine distribution to the poor and marginalized.

 

Recognizing similar, longstanding neglect in other South American countries, the humanitarian organization Factor-H has continued to assist abandoned HD families during the crisis.

 

Providing everybody access to medicines

 

Echoing her concerns about COVID-19, Dr. Haddad affirmed the need for a “change in the paradigm” regarding rare and genetic diseases like Huntington’s.

 

As in the U.S. and elsewhere, fear and denial frequently underlie Brazilians’ decisions to avoid genetic testing and facing the terrible medical and social challenges posed by the disease. Many Brazilians have “prejudice against disease” in general, Dr. Haddad told me in a 2013 interview.

 

However, the trend against testing might be shifting for the younger generations, and could also change among older groups when the overall outlook for treatments has improved, Dr. Haddad wrote in a May 14 WhatsApp message. Clinical trials seeking presymptomatic HD gene carriers will require testing, she added.

 

Like medical professionals in many countries, Dr. Haddad believes genetic testing is a personal decision, with the procedure governed by established protocol and with professional medical and psychological support.

 

As of April 2021, the Brazilian government has required all private health plans and insurance to cover genetic testing. This represented a “small advance,” Dr. Haddad asserted in our Zoom interview, because health advocates want to see the country’s free public health service also provide that benefit.

 

For Dr. Haddad, for HD to be defeated, inequality must diminish.

 

“The question is: is it ethical to diagnose someone with one of those diseases and not have a treatment available?” Dr. Haddad said. “This is a question that I discuss with my patients and with my colleagues.”

 

She added: “It is certainly not ethical to have a treatment that not everybody has access to.”

 

The HD Therapeutics Conference left her with her “hope battery recharged” and confident that a treatment is possible, Dr. Haddad said.

 

 

Gene Veritas interviewing Dr. Mônica Haddad (screenshot by Gene Veritas, aka Kenneth P. Serbin)

 

Advocating for open science

 

At the close of the conference, Dr. Haddad was inspired by the presentation by featured speaker Aled Edwards, Ph.D., who in 2004 founded the Structural Genomix Consortium (SGC), which practices and advocates for open sharing of scientific information, particularly as it applies to protein science, chemical biology, and drug discovery.

 

Dr. Edwards, the SGC CEO and a scientist based at the University of Toronto, spoke on “HD drug discovery in the public domain – a model for CHDI.” A breath of “fresh air,” Dr. Edwards’ talk pointed the way to reducing inequality, Dr. Haddad told me.

 

“What we would also like to do is develop a drug discovery ecosystem that prioritizes affordability and global access, and, of course, to do this in collaboration with industry,” Dr. Edwards stated. “Now this might sound naïve, but I’d like to emphasize there’s quite a bit of drug discovery experience in the SGC and in our network.”

 

Dr. Edwards presented examples of researchers who have followed the open science model – including 16 “HD open science programs” that share science “as they go,” with some even blogging about their findings. He highlighted the work of Rachel Harding, Ph.D., an SGC researcher and postdoctoral fellow at the University of Toronto who achieved the “very challenging” task of purifying the huntingtin protein to a “resolution that is practically useful” to other scientists.

 

Dr. Harding has widely shared both the protein and reagents (compounds that facilitate chemical reactions) that enable the making of the protein, ultimately aiming to inform the discovery of potential HD drugs, in particular so-called small-molecule drugs, Dr. Edwards explained.

 

Discussed at the Therapeutics Conference, these drugs become distributed very evenly across the whole body, including the brain, whereas several drugs in other current or recently completed clinical trials need to be injected directly into the brain or via spinal tap.

 

“This is a really fantastic contribution to the public good that these folks have made,” Dr. Edwards said of Dr. Harding’s team.

 

Sharing science as they go: Huntington's disease "open science champs" as presented by Dr. Aled Edwards, at upper right (screenshot by Gene Veritas)

 

Seeking more efficient drug discovery

 

Dr. Edwards underscored a key point: despite spending $300 billion globally each year on research and development and producing many hugely successful drugs, the biomedical field is highly inefficient. “We need to do better as a society,” he asserted.

 

“For many diseases – Huntington’s, Parkinson’s, Alzheimer’s – we don’t even know the molecular mechanism of the disease, let alone how to design a therapeutic strategy,” Dr. Edwards said, adding that a system in which the “first past the post gets the money” in designing drugs has required “the pricing of medicines at levels that are unaffordable for most people on the planet.”

 

Dr. Edwards displayed data demonstrating how globally most research focuses on the familiar rather than explore new, potentially crucial areas of biology. Similarly, in industry, companies pursue drugs in parallel rather than collaborate, wasting valuable resources, he added.

 

SGC is working against the grain, trying to create the way for a new scientific culture. The SGC never files for patents “as a core principle,” Dr. Edwards explained. “All of the work we do goes into the public domain, including the reagents that we make.”

 

If labs and companies openly shared data before doing the final crucial test on a potential drug in a Phase 3 trial, the field could not only save money, but test multiple drugs at the same time, he said.

 

Rather than rely on patents, the system should take advantage of federal laws that give companies protection from competition for a fixed period, generally five to twelve years, Dr. Edwards affirmed. The law provides even longer periods for orphan and pediatric drugs.

 

Supporting the public good

 

“There is no law of physics that says industry has to invent a drug,” Dr. Edwards said. “That’s the social system that we’ve put in place. Let’s imagine a different system.”

 

To “walk the walk about open drug discovery,” SGC established the Agora Open Science Trust, a registered charity in Canada modeled on Newman’s Own Foundation, which funnels profits from food products with the picture of the late Academy-Award-Winning actor into philanthropy.

 

Dr. Edwards described its goal: “To support open science and the public good, and price new medicines to ensure global access. Whether you’re a rich American or live in Thailand, you’re going to get the medicine at a price you can afford.”

 

In its first project, Agora has focused on children’s cancers. As of yet the trust has not announced a plan for an HD drug program, although Dr. Edwards and the above-mentioned HD open science researchers have an abiding interest in finding treatments.

 

Indeed, regarding those treatments, Dr. Edwards concluded that “if we do it as a collective, we’ll get further faster.”

 

 

Dr. Aled Edwards explains the creation of for-profit drug companies to fund the Agora Open Science Trust, whose mission is to ensure global, affordable access to new medicines (screenshot by Gene Veritas).

 

Knowledge belongs to the world

 

If Dr. Edwards and SGC achieve their goals, they will have a place in history, Dr. Haddad observed. The emphasis on sharing data will “democratize” knowledge, she added.

 

“It’s obvious that a company does things to earn money,” Dr. Haddad continued. She noted, however, that Dr. Edwards is asking scientists and others to put their vanity aside to help the suffering.

 

Brazil has not yet hosted, and may not host in the future, any sites for the major HD clinical trials, Dr. Haddad pointed out. She noted that the local HD community attempted to bring to Brazil the historic Phase 3 gene silencing clinical trial by Roche, which reported the unfavorable results at the HD Therapeutics Conference. In South America, Roche ran the trial in Argentina and Chile.

 

“We did the paperwork to try to include a Brazilian research center, and because of questions raised by an ethics committee and political and legal issues, we were unsuccessful,” Dr. Haddad explained. “Brazil did not permit genetic material [from the clinical trial] to be sent out of the country.”

 

For now, Dr. Haddad said, Brazilians can at least look forward to the possibility of their government’s authorization of the drug Austedo, approved by the U.S. Food and Drug Administration in 2017 for chorea, the involuntary movements that occur in many HD-affected individuals.

 

At this time, Brazil’s lack of participation in clinical trials of drugs that aim to slow or stop the disease is “not important,” Dr. Haddad concluded. Echoing Dr. Edwards – and the hope of thousands of Brazilian HD families anxiously awaiting the arrival of effective treatments but fearful that the country might not be able to afford them – she added: “The knowledge obtained belongs to the world.”

Getting the COVID-19 vaccine and a new exercise bike to keep stable in the fight against Huntington’s disease

 

In my fight against Huntington’s disease, I have strived to delay the inevitable onset by working hard to keep my overall health stable. This strategy has included avoiding potential shocks to my system.

 

Now the leading cause of death in the United States, COVID-19 poses a threat to all of us. As a 61-year-old HD asymptomatic gene carrier, I have religiously followed recommendations on social distancing, mask use, and handwashing.

 

As a university professor, I have taught online since March 2020. The pandemic has rocked universities’ finances and employees’ benefits. Despite serious precautions by the schools, the coronavirus has surged among some students, including at my campus, the University of San Diego.

 

On February 6, I got a last-minute opportunity to get vaccinated with the Moderna COVID-19 vaccine. A San Diego nonprofit clinic that was following guidelines to first vaccinate individuals 65 and over announced around midday that not enough people from that group had responded, thus making available extra doses that needed to be injected that day. Educators and healthcare workers were invited to get that first of two doses.

 

My wife Regina, an instructional coordinator for the San Diego Unified School District, and I jumped at the chance. After a two-hour wait, including filling out forms and questionnaires, we received our shots! We were jubilant. Getting vaccinated also felt like an extra gift for Regina: February 6 was her birthday.

 

 

Gene Veritas, aka Kenneth P. Serbin, receiving an injection of the Moderna COVID-19 vaccine (selfie by Gene Veritas)

 

As one of the tens of millions of Americans now at least partially vaccinated, I am protecting not only my health, but also limiting the spread of the pandemic. (For an expert discussion of the ethics of COVID-19 vaccination, including the phenomenon of “vaccine guilt,” click here.)

 

I was also proud to get the Moderna vaccine because its RNA-based approach resembles some of the treatment strategies being tried in HD clinical trial programs. Furthermore, the scientist-written HDBuzz website has urged HD-affected individuals to get vaccinated for COVID-19.

 

Though I had a sore arm and felt a queasy for a couple of days, I have felt normal since. We are scheduled to get the required second shot on March 6. I also have participated voluntarily in the federal government’s V-safe After Vaccination Health Checker, a mobile phone app including questions about pain and other potential side effects.

 

An innovative, ‘neurobic’ spin bike

 

Four days after our COVID shots, technicians delivered and set up our long-awaited new exercise machine, the Peloton Bike+, which has a screen for watching online classes.

 

Regina and I have always prioritized exercise. This has become ever more important as we have aged. When we had a backyard pool built in 2009, I insisted on installing a Fastlane swim device so that I could exercise vigorously.

 

I have varied my exercise – swimming, walking, riding a stationary bike – to focus on different parts of the body.

 

In general, avoiding physical and mental routine can reinforce brain and overall health. This has led me to practice “neurobics,” a word that combines words “neurons” and “aerobics.” Such brain workouts can include something as simple as engaging with interesting people or taking a different route every time I walk. Neurobics can increase levels of the critical brain nutrient BDNF, brain derived neurotrophic factor. (Click here to read more.)

 

After the start of the pandemic, we noted the extensive TV advertising for Peloton (which even became the subject of a recent Saturday Night Live skit poking fun at the motivational online workouts).

 

The Peloton bike and other online exercise apps that feature live and recorded exercise classes are an innovative, neurobic way of connecting with coaches and others. Users can expand their physical and mental horizons with the wide variety of online cycling classes, strength exercises, stretch classes, yoga, and other activities.

 

 

Gene Veritas riding the Peloton Bike+ (photo by Regina Serbin)

 

We have found the Peloton Bike+ and the app to be far superior to our previous exercise bike, which had begun to deteriorate. A spin bike, the Peloton allows for a more versatile workout.

 

In the psychologically devastating social isolation of the pandemic, the Peloton is also allowing us to thrive indoors. Despite a significant sticker price, the bike makes sense budget-wise, since the money from Regina’s cancelled gym membership goes to a monthly payment plan.

 

Subtle impairments predate onset

 

On February 16, I received a stark reminder of how Huntington’s disease can impair gene carriers, however slightly, in the years leading up to an actual clinical diagnosis.

 

I attended an online presentation by Paul Gilbert, Ph.D., a professor and the chair in the Department of Psychology at San Diego State University, to the University of San Diego Neuro and Psych Research Club. Titled “Neuropsychological Changes in the Premanifest and Manifest Stages of Huntington’s Disease,” Dr. Gilbert’s talk highlighted some of the key findings in his ongoing research on this topic, including data from a 2020 article by his team in the journal Cognitive and Behavioral Neurology.

 

Premanifest HD involves the period before a neurologist can actually observe a gene carrier as having experienced the onset of the disorder’s typical motor, cognitive, and/or behavioral symptoms, stated Dr. Gilbert. In the past, physicians only saw the motor symptoms – involuntary movements and unstable gait, for example – as signs of the malady

 

Using verbal learning and memory tests, the research has demonstrated that these individuals can develop subtle cognitive symptoms – in particular, memory loss – ten to fifteen years before the formal diagnosis, Dr. Gilbert explained. The memory deficits increase dramatically after HD onset, he added.

 

“It really argues that we as clinicians need to be looking at not just the motor symptoms to make a diagnosis of Huntington's disease, but really starting to look at cognitive symptoms,” Dr. Gilbert asserted.

 

That position echoes the general trend towards a view of Huntington’s as a multi-symptom disease over the past several decades.

 

Statistical versus clinical signs

 

As a regular participant in research studies, I have performed a number of the tests that Dr. Gilbert described.

 

During the Q&A, noting that gene carriers like me worry about where we stand on the road to onset, I asked Dr. Gilbert whether the premanifest impairments hamper “actual functioning,” for example, daily activities such as driving, balancing a checkbook, and communicating with others.

 

“They’re statistically impaired, but they’re not clinically impaired,” Dr. Gilbert observed about the gene carriers in the research studies. The deficits are “very subtle” and can only be picked up on testing, he added.

 

Nevertheless, he added that his research has also determined that subtle memory impairment does have a “measurable but quite mild” impact on activities like handling finances or taking medications, but that only after onset does the disease seriously interfere with daily living.

 

(Dr. Gilbert’s work also echoes the recent landmark study of young HD gene carriers, ranging in age from 18-40 and illustrating no significant cognitive of psychiatric decline. Click here to watch Dr. Gilbert’s 2018 presentation on HD to University of San Diego students.)

 

Anticipating a brighter future

 

With the pandemic and the worst economic crisis since the Great Depression, I am very fortunate to have a job and work remotely.

 

Because an estimated 20 percent of HD onset results from non-genetic factors, my imminent protection from COVID-19 and anticipation of new neurobic adventures with the Peloton can help me maintain stable health.

 

They certainly have helped me to feel optimistic about the future – for the first time in a year. I am also looking forward to news on the key HD clinical trials in progress.

 

Although we recognize the long-term social impact of the pandemic, Regina and I are especially looking forward to a healthier and happier 2022 for all, and the chance to travel: we hope to attend my 40th college reunion, celebrate our 30th wedding anniversary, and watch our HD-free daughter Bianca graduate from college.

 

We are thankful for every moment of life.

Happy Thanksgiving! And hail to the pharmaceutical and biotech industries – and the scientists!

Thanksgiving this year is going to be radically different for many Americans, including my family.

 

I will celebrate my favorite holiday just with my wife Regina, home in San Diego.

 

As it has for many Americans, the COVID-19 pandemic has prevented us from hosting our usual small group of friends.

 

After eating a healthy brunch, we plan to have a Zoom call with our HD-free “miracle” daughter Bianca, a junior history major at the University of Pennsylvania. We are ever thankful that Bianca did not have to face the devastating possibility of juvenile HD. We will miss her, but are reassured knowing that she will spend the day with her boyfriend and his immediate family in the East.

 

We also hope to Zoom with some of our local friends. 

 

However, despite the terrible pall cast by the pandemic over the 2020 holiday season, I feel extremely optimistic that researchers will find a highly effective vaccine for the coronavirus.

 

The announcements of preliminary data by Moderna and the team of Pfizer and BioNTech revealed that their vaccine candidates reduced COVID-19 infections by 95 percent in clinical trials.

 

Dr. Anthony Fauci, the director of the National Institutes of Allergies and Infectious Diseases (NIAID), described the Moderna data as “stunningly impressive,” noting that he would have settled for 70-75 percent efficacy in a vaccine.

 

“It is really a spectacular result that I don’t think anybody had anticipated would be this good,” Dr. Fauci said. He had similar praise for the Pfizer/BioNTech data.

 

Both of these trials use genetic approaches: they introduce the virus’s own genes into cells to provoke an immune response.

 

According to the New York Times’ Coronavirus Vaccine Tracker, several dozen other companies have embarked on clinical trial programs using some form of approach based on genetics or other cutting-edge strategies. Only ten projects are making vaccines using the traditional approach of injecting weakened or dead coronaviruses.

 

In all, scientists are testing 54 vaccines in clinical trials, and at least 87 more are under investigation in animals.

 

Genetics-based approaches are familiar to the HD community, where researchers have investigated the potential of gene silencing drugs for more than a decade. Researchers in the lead program, Roche’s historic GENERATION HD1 Phase 3 clinical trial, hope to analyze data in 2022. 

 

When I heard of the initial reports of Moderna’s genetics-based approach, I felt deeply confident that humanity would ultimately defeat the coronavirus. 

 

The potentially record speed in getting a vaccine to the world is testimony to the ingenuity, dedication, and focus of the biotech and pharmaceutical industries, which I have observed with deep interest in my nearly quarter century as an HD advocate and student of the science – and as a writer summarizing the science in simple terms.

 

In October, posting on Facebook an article on the bold Triplet Therapeutics clinical trial program – yet another genetics-based effort – I wrote the following: “Hail to the many imaginative and hard-working companies in America’s pharmaceutical industry!”

 

I also salute the scientists involved, and the many pharmaceutical and biotech firms of other nations engaged in the fight against COVID-19 and HD.

 

Also, we must not forget the millions of doctors, nurses, and other healthcare workers and first responders who have heroically attempted to hold the line against COVID-19, thus giving the researchers the time necessary to develop the vaccines.

 

Thanksgiving is our quintessential American holiday. This year, with the pandemic, it takes on a global significance. Across all cultures and nations, the virus has led us to realize once again our common humanity – and the collective efforts needed to safeguard life for all.

 

 

Photo by Bianca Serbin, taken in fall 2009 at the San Diego Botanic Garden (click here to read more).

Annual Huntington Study Group meeting reveals an HD community energized to aid families, develop treatments

Moved online because of the COVID-19 pandemic, the 27th Annual Huntington Study Group Meeting nevertheless revealed an HD community committed to aiding affected families and developing cutting-edge treatments.

Originally scheduled for Atlanta, GA, the virtual conference took place from October 29-31, with more than 800 scientific and medical participants from around the world. The meeting featured two days of presentations concerning care of HD-afflicted individuals, as well as updates on key clinical trial programs, aimed at producing drugs.

 

On Family Day, which drew an estimated 180 additional people, the affected, caregivers, and advocates heard both expert presentations on coping with HD and highlights regarding research.

 

Research moving full steam ahead

 

Martha Nance, M.D., a long-time member of the Huntington Study Group (HSG) and the director of Family Day organizing committee, kicked off that event with a reflection on the “highlights and lowlights” of 2020 so far. A neurologist and frequent sounding board for this blog, Dr. Nance is also the medical director of the Huntington’s Disease Society of America (HDSA) Center of Excellence at Hennepin County Medical Center in Minneapolis, MN.

 

We all know the lowlights, Dr. Nance said: the COVID-19 pandemic, the death of George Floyd in Minneapolis, the 2020 election with its uncertainty, and climate change.

 

“For me, a highlight of this entire year was this meeting,” Dr. Nance said, referring to the great progress in HD research. “The last two days we heard about more things than you can shake a stick at.”

 

Dr. Nance listed the important developments detailed in the scientific talks, including several innovative ways to potentially block the harmful effects of the mutant huntingtin gene. Both the scientists and family members got updates on GENERATION HD1, the historic, in-progress gene silencing clinical trial by Roche aimed at reducing the amount of toxic huntingtin protein in the brain.

 

At the conference, several speakers referred to temporary slowdowns in research programs because of the new safety protocols resulting from COVID-19. Dr. Nance also noted difficulties in accessing some HD community members because of the pandemic in the U.S. and abroad, although she also has observed a helpful “explosion” in telemedicine.

 

However, despite the uncertainty about overall scientific research funding because of the COVID-19 crisis, “research is alive and well in Huntington’s disease,” Dr. Nance stated. “If what happened at this meeting continues, research in Huntington’s disease is moving full steam ahead.”

 

“I found the meeting to be energizing,” Dr. Nance concluded in an e-mail to me on October 31.

 

For detailed reports of the research presentations, see HDBuzz’s coverage by clicking here and here.

 

For the next year, HSG is providing access to on-demand recordings of the conference talks and other events. Click here to register for access.

 

‘Heroes,’ and a thank-you for me

 

Dr. Nance devoted most of her Family Day introduction to counterpoising the difficulties of 2020 with the stories of “heroes” who have stepped up to assist others in the HD community by exercising their unique skills.

 

“We need to hear about some people who’ve done good things,” she explained. “I hope that you can emboldened, empowered by some of these heroes.”

 

Dr. Nance – to my surprise and appreciation – began with the example of me, Gene Veritas (aka Kenneth P. Serbin), the author of this blog, now in its sixteenth year. Dr. Nance recalled how she and I had worked together on our college newspaper (click here to read more). She said that I use my journalistic skills to help inform the HD community, and to be “very up front about my struggles and fears” as a carrier of the HD mutation.

 

I write in this article about myself because Dr. Nance stressed how important it is for the HD community to be informed about its social ramifications.

 

‘I can’t breathe’

 

Dr. Nance recalled my September 2014 report on Jeffrey Bane, a West Virginia man arrested because the police misunderstood his HD symptoms to be the result of narcotics abuse (click here to read more).

 

Dr. Nance replayed the video of a bystander who had filmed Jeff suffering injuries as the police held him to the ground, thinking that, with his involuntary, HD-caused movements, he was resisting arrest. “I can’t breathe,” Jeff said desperately as he asked the officers for help.

 

Jeff only received the help of paramedics after the police had held him to the ground for almost ten minutes, Dr. Nance pointed out. 

 

Then she asked the attendees “to just take a deep breath, pause, and think for a minute.”

 

After 54 seconds elapsed, she resumed her presentation. “Hopefully you took a deep breath,” she said. “I think probably you felt anger, hate, sorrow, sadness, fear, anxiety.”

 

She continued: “We can’t change something that happened six years ago. What we can do is try as hard as we can to keep events like this from happening against in the HD community.”

 

Dr. Nance noted that HDSA has a toolkit for educating first responders, police officers, and fire personnel about HD. The organization provides other resources (such as a special HD ID card) to help HD-affected individuals and their families prepare for potential encounters with the police, she added.

 

(I have explored these crucial themes in other articles. Click here to read more.)

 

‘Your life matters’

 

In examples surely moving to the audience, Dr. Nance presented the stories of several other HD “heroes.” 

 

Inducted into the Minnesota Auctioneers’ Hall of Fame in 2005, Joe, whose wife and daughter died of HD, took “his grief, his sadness, his sorrow” and raised money and bought electric toothbrushes for hundreds of HD-afflicted people, Dr. Nance recalled.

 

As a ten-year-old watching his mother face HD, B. J. Viau started an annual basketball hoop-a-thon that over the years raised some $750,000 for HD research. Among other things, B. J. went on to become one of the founders of the highly active international Huntington’s Disease Youth Organization. 

 

Diagnosed at ten with juvenile HD, Elli started kickball tournaments to support the cause. She became an internationally recognized HD advocate.

 

Dr. Nance also recognized the 791 “heroes” who are taking part in the GENERATION HD1 clinical trial.

 

With HD, she said, it’s easy to become angry, sad, and depressed. However, people can also “stand up tall” to help others. We need more everyday heroes, she added.

 

“Your life matters – not to take away from anybody else whose life matters,” Dr. Nance said in closing. “What you do makes a difference.”

 

Dr. Martha Nance (left) praises the advocacy of juvenile Huntington's disease-affected Elli Hofmeister (in images at right) at the virtual 2020 HSG Family Day (screenshot by Gene Veritas).