An ‘electric,’ inspiring Thanksgiving for the Huntington’s disease community

Thanksgiving is my favorite holiday. I’ve reflected on it many times in this blog. For me, rather than the commercialism and stress associated with the holidays, it’s truly a day of relaxation, the warmth of friends and family, and gratitude.

This year, the Huntington’s disease community has bountiful reasons for thanks. Several clinical trials to test what might become the first effective treatments are in progress, and the community has demonstrated spirited participation.

The historic Roche gene-silencing program successfully started its crucial third and final phase, GENERATION HD1, earlier this year. The program includes an open-label extension of all 46 participants in the first phase, completed in December 2017, all of them receiving the drug RG6042 via a monthly injection into the cerebrospinal fluid (CSF).

“Two years ago, we showed for the first time – about 25 years after the discovery of the gene –the ability to lower CSF levels of mutant huntingtin [protein] in patients with HD, which was a very exciting first-in-human accomplishment, and that was really the springboard that allowed us to proceed to our global development program,” Scott Schobel, M.D., M.S., Roche’s associate group medical director and clinical science leader for RG6042, reported at the 26th annual Huntington Study Group (HSG) meeting on November 8. “So these heroic 46 volunteers were the foundation of that.”

GENERATION HD1 is “recruiting incredibly well,” Dr. Schobel said. “It’s been absolutely electric.” Total worldwide enrollment in GENERATION HD1 and related studies has surpassed 800. “It’s been a huge response from the community,” he added.

Several other programs provided updates at the HSG meeting.

Although much work remains to develop effective therapies, HD families and their supporters can feel proud for helping further the progress achieved in 2019.

Priscilla’s inspiring fight and peaceful paintings

An HD-stricken woman I know from Brazil, Priscilla Ferraz Fontes Santos, embodies the life-force of the HD cause. I saw Priscilla in 2013 at the sixth World Congress on Huntington’s Disease in Rio de Janeiro, and got to know her at #HDdennomore, Pope Francis’ special audience with the HD community in Rome in 2017.

Brazilians don’t celebrate Thanksgiving, but Priscilla’s words, paintings, and photos help us feel the peace and hope of our quintessentially American holiday.

Priscilla was stricken with juvenile HD as a teenager. She had played soccer, pursued acting, and completed her journalism degree, but the disease prevented her from finishing a second degree in tourism.

Many juvenile patients do not live past 30. Priscilla is 36. She takes no drugs to control her involuntary movements and other symptoms but instead relies on alternative and spiritual approaches, including yoga. However, she also follows HD clinical trials and hopes for a cure.

Starting November 22 and ending December 10, Priscilla and her art teacher are staging an exhibit of Priscilla’s paintings in Serra Grande, a town in the state of Bahia. They have called it “Colored Atmosphere.”

Priscilla with two of her paintings (family photo)

“The past two and a half years, I have been taking painting and art classes, and I have discovered for myself the pleasure and well-being that painting brings,” Priscilla wrote in an introduction to the exhibit. “As I await the cure, I have gained the courage to overcome many difficulties and meet challenges with the ever-present support of my family, friends, and health professionals who care for me.”

Priscilla ended with this wish: “I hope that you enjoy my paintings and that they awaken in you all of the strength, beauty, and joy with which I painted them.” (I translated the text from the original Portuguese.)

Priscilla is an “inspiration of strength and positive thinking” for all of us, Priscilla’s mother Lígia wrote in a message in Brazilian WhatsApp group dedicated to the HD cause.

Priscilla practicing yoga (family photo)

Symptom-free, but awaiting treatments

As always, I am profoundly grateful for not having yet developed any of the inevitable classic symptoms of HD, which struck my mother in her late 40s and ended her life at 68.

I turn 60 next month – an age at which my mother had full-blown HD and could no longer care for herself.

Last week, I presented my new book on Brazilian history to an audience at the University of San Diego. I had never imagined I would still be able to write at age 60.

Even more importantly, I’m able to continue supporting and loving my wife Regina and daughter Bianca. A sophomore at the University of Pennsylvania and HD-free, Bianca will spend Thanksgiving with friends in Connecticut. However, in a few weeks she will be home for winter break.

I am crossing my fingers that GENERATION HD1 and other trials can produce an effective treatment – and that I can hold on long enough to benefit and share more precious time with my family.

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.

Pope Benedict XVI’s resignation: a witness to aging, a signal for a new bioethics

Undoubtedly, history will most remember Pope Benedict XVI not for any accomplishment or lack thereof, but for his courageous and humble decision to become the first head of the Roman Catholic Church to abdicate in seven centuries – and only the fifth in 2,000 years of Catholicism.

One cannot fail to be moved by the 85-year-old leader’s recognition that he no longer possesses sufficient “strength of mind and body,” leaving him unable “to adequately fulfill the ministry entrusted to me.”

He made the announcement on February 11. He will leave his post on February 28. Shortly thereafter, a conclave of cardinals, the top leaders of the Church, will meet to select a new pope from among themselves.

Benedict XVI’s resignation is a witness to aging and human mortality.

No matter what our beliefs about religion, this simple but profound action gives us pause to reflect on how we can accept our own human limitations.

For the Huntington’s disease community, it also provides an opportunity to recall the ethical, social, and spiritual dimensions of our collective struggle.

Turning over the keys

In a world with many governments and institutions ruled by old men unwilling to release their grip on power, Benedict XVI has voluntarily relinquished control of the Church – the epitome of male dominance – to go live in a building that has until now served as a cloistered convent.

Pope Benedict XVI 

In a global, image-conscious youth culture offering plastic surgery and hair implants to the middle-aged and elderly, Benedict XVI has said that it’s okay to age.

Many elderly people resist giving up freedoms such as the pleasurable and powerful experience of driving a car until an adult child worried about safety takes away the keys or gets a court order to declare the parent incompetent.

Benedict has turned in the keys on his own, saving others from potentially embarrassing and even dangerous predicaments and opening the door to potentially more youthful leadership in greater tune with today’s world.

According to the New Testament of The Bible, Jesus gave the Apostle Peter the keys to the Kingdom of Heaven. The historical successor to Peter, Benedict XVI will pass on those spiritual keys to a new pope, another illustration of the profound humility of his abdication.

Each day, HD-affected people and their caregivers strive together to strike a balance between the individual patient’s desires and the need for proper care. We, too, face the terrible burden of wondering about the right moment for the caregiver to take over the keys.

Gene-positive, asymptomatic people like me and those with early symptoms wonder how long we can hold onto our keys, and we worry greatly about burdening our families.

Ultimately, those keys represent our lives and our hopes for a peaceful death and the possibility of a hereafter – a place without the suffering of Huntington's disease.

Revealing frailty

Rather than leave the world the spectacle of a pope struggling to hold onto the reins of power while ensconced in the palatial papal dwellings, Benedict XVI may instead ultimately provide the world the image of a retired pope hospitalized or sheltered in what could effectively become a nursing home, with caregivers assisting him with basic needs.

If Benedict XVI develops or already has Alzheimer’s or some other neurodegenerative disorder, rather than be hidden behind a Vatican bureaucracy nervous about a transition of power and the Church’s image, his condition will become known to the world.

His predecessor, Pope John Paul II, suffered from Parkinson’s disease. Despite his symptoms, John Paul II kept up his busy schedule of trips and public appearances. He also advocated for greater research towards a cure.

The HD community has long understood the similarities between the frailties caused by Huntington’s and those of Alzheimer’s, Parkinson’s, and other disorders. We can stand with Benedict XVI as he faces the possibility of his own neurodegenerative symptoms, and we will continue to advocate for remedies for HD, still untreatable but the focus of intense research efforts.

Revising bioethics

The social impact of Huntington’s disease and the efforts to understand and treat it have thrust our community into the forefront of the biotechnological revolution.

As I recently wrote, “The story of Huntington's is the story of our time. Huntington's was one of the very first diseases for which a genetic test was developed. As knowledge increases about numerous other health risks, medical ethics must undergo profound revision, and a genetic-rights movement must arise. To borrow one scholar's phrase, disease-gene carriers like me are ‘moral pioneers’ on the genetic frontier.”

Benedict XVI’s witness to aging and mortality comes at a time when the Church hierarchy, Catholic believers, and society in general have struggled mightily with other life-and-death issues such as birth control, abortion, embryonic stem cell research, and mercy killing.

Benedict XVI shored up traditional Church teachings on these matters, but he also belonged to a generation of Church thinkers faced with the challenge of formulating a system of Catholic bioethics to meet both the ever-expanding promise and dangers of the biotechnological era.

Thus, Benedict’s witness to aging could help the Church forge ahead with a carefully conceived and balanced bioethics.

By suddenly opening up the Church to the selection of a new pope, Benedict XVI has created potential space for new ideas regarding bioethics.

If a pope can humbly resign, perhaps the Church can humbly admit the need for greater flexibility.

Responding to challenges

Pope John XXIII (1881-1963, pontiff 1958-1963), a simple man of peasant origins not expected to make waves, surprised the world in 1959 by calling the Second Vatican Council, which took place from 1962-1965. This June 3 marks the 50^th anniversary of John XXIII’s death.

Vatican II brought the Church into the modern world by carrying out the most sweeping reforms in the history of Catholicism. Those reforms included the end of the universal Latin Mass (in favor of the Liturgy in local languages), initiation of dialogue with other religions as well as with antagonistic political creeds such as Marxism, and greater participation by laypersons in the Mass and administration of the Church.

Vatican II responded to a great malaise in the Church in the 1950s caused by censorship of innovative ideas and an exaggerated dependence on tradition and ecclesiastical authoritarianism. Today a similar malaise – created by the current sex-abuse scandals and cover-ups involving priests, bishops, and even cardinals – plagues the Church.

In the late 1960s, powered by the energy of Vatican II, the Church seemed on the rebound.

Future reforms

As is well known, Benedict XVI worked hard to contain and even reverse the trends unleashed by Vatican II.

However, unlike the 1960s, when so much seemed possible for the Church, today the institution suffers from a crisis of credibility.

Liberal Catholics like me have again begun to urge that the Church call for a Vatican III to address such issues as the sex-abuse scandal and the ordination of women (for another example, click here). The Church also needs reform on issues such as obligatory priestly celibacy, the ordination of married men, and hypocrisy about homosexuality in an institution with large numbers of mainly closeted gay clergy.

A Vatican III was virtually impossible under Benedict XVI as active pope. However, his radical departure into retirement has now made a council possible. It may not matter if the new pope is another conservative, because Benedict XVI’s powerfully symbolic resignation, his witness to aging, has signaled to the leadership that it can and should explore new avenues, new modes of action.

Bioethics could and should become the centerpiece of a Vatican III.

As the Church clamored for peace and social justice in the 1960s, today it can take a new and invigorating leadership role in helping the world adapt to the challenges of the genome, the environment, new forms of human relationship, and the immense caregiving burden created by science and medicine’s ability to prolong the life of the body ahead of the mind.

In its long and often wise history the Church has evolved gradually and deliberately. It can now begin to embrace the postmodern world.

We in the HD have also born witness – to immense suffering, to an ambitious scientific effort to improve the lives of people through the search for treatments and cures, and to hope. We have much of our own wisdom to offer the Catholic Church, and the world, in the quest for a new bioethics.

(A similar version of this article appeared today in Portuguese in the Brazilian newspaper O Estado de S. Paulo.)

Hope of clinical trials creates new, proactive outlook on Huntington’s disease

A diagnosis or positive genetic test for Huntington’s disease has always meant a terrible, prolonged death sentence. However, the vast, growing body of knowledge about the disease and the genuine hope of clinical trials have opened the door to a more optimistic, proactive outlook on HD.

That’s the message I’ve transmitted in recent speeches, including one titled “Genuine Hope for Huntington’s Disease Treatments: New Ways of Thinking about HD,” the keynote for the event “Living with Huntington’s: An HD Education Day,” held by the North Carolina Chapter of the Huntington’s Disease Society of America (HDSA) on May 12.

“It was a very, very hopeless situation,” I told the audience in describing my mother’s diagnosis with HD in 1995 and my positive test for the condition in 1999. We in the HD community kept hearing that there was no “effective way of stopping Huntington’s.”

In recent years, however, the increase in research and the promise of potential treatments have brought about “the transition from hopelessness to hope.”

Read on for a summary of the speech’s main points. You can also watch it in the video below.

2012 North Carolina HD Talk from Gene Veritas on Vimeo.

Our lives are not lost

I drove home the idea of hope by discussing the worldwide effort to end HD and the imminence of potential trials, including the one aimed by Isis Pharmaceuticals, Inc., to silence the HD gene and expected to begin by late 2013 or early 2014, and, if successful, to result in a drug perhaps by 2020.

“These are real people in the labs,” I emphasized, showing a photo of Isis scientists at the company’s Carlsbad, CA, facility. “We think of scientists as people in these white coats, maybe wearing really thick glasses, or having really pointy heads, sitting in a lab. But they’re everyday people just like all of us, and they want to see the treatments.”

“It’s time for a new outlook,” I continued, recalling the HDSA slogan “let’s make this the last generation with HD.” “That seemed like a dream ten or 15 years ago, but now I think we’re closer to that becoming a reality.”

Rather than slip into the old, depressing notion that HD is untreatable, we now must embrace a new phrase: “HD will be treatable.”

“It’s more and more a question of not if, but when this is going to happen,” I said, noting that scientists are now “genuinely optimistic” about potential treatments. “We need to tell ourselves everyday: there is hope, and my life is not lost.”

A more proactive view of genetic testing, self-care

Because of the hope provided by research, fear of genetic testing “can and should diminish,” I observed. Gene-positive people can plan for the future by maximizing their physical, emotional, and spiritual health and putting in order matters related to insurance coverage, career, finances, and family planning.

They can and should also participate in current or future trials requiring gene-positive, asymptomatic participants, I said.

“You can give back to the community at large by participating in the search for treatments,” I added.

“So yes, testing is scary, there’s no doubt about it,” I said. “But I think now testing is ultimately proactive. I think we need to turn around the way that people think of testing as something so intimidating and scary, a life-ending experience.”

Overcoming denial, spurring participation

I began and ended the presentation with a reflection on the roadblocks to our success.

“We know that there are a lot of HD families that could not make it here or didn’t want to be here today,” I said. “Part of the reason there aren’t more people in the room is because we struggle in Huntington’s with a terrible stigma, and along with that stigma comes shame, fear, and one of my worst enemies of all, denial.”

Denial affects all of us because it discourages the participation in clinical trials and therefore hinders scientists from effectively testing potential treatments.

To engage others in the process, we cannot preach or harass, but must pursue a gentle approach. Most importantly, we need to live by example, to keep telling our personal stories, “opening your heart to others” and educating them about the trials.

“We need to live optimistically, on a daily basis,” I concluded. “Yes, HD is a terrible cross to bear. But I think that knowing we can be part of the solution, that we can help the scientists, help the doctors find a treatment, this is something that gives us a sense of purpose, gives us a sense of being part of something larger than ourselves. It’s not just me, it’s not just my family. It’s people around the world who are affected by Huntington’s, and other conditions.”

(For additional thoughts about the new outlook on HD, please click here.)