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

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

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

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

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

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

Studying the history of the HD cause

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

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

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

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

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

Seeing our daughter enter college

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

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

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

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

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

The preciousness of life

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

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

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

Tomorrow, I want to enjoy Thanksgiving.

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

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

In chronicling the quest to cure Huntington’s disease, a whirlwind of emotions

Covering the 13th Annual Huntington’s Disease Therapeutics Conference left me with immense hope about potential treatments but also, as in the past, a whirlwind of emotions regarding the disorder that killed my mother and threatens the lives of tens of thousands of HD patients and presymptomatic gene carriers like me.

The conference began on February 26 with a remarkable keynote speaker invited by sponsor CHDI Foundation, Inc.: Nora Guthrie, the daughter of iconic folk singer and activist Woody Guthrie, who died of HD in 1967, and his late wife Marjorie. In 1967, Marjorie founded what would become the Huntington’s Disease Society of America (HDSA).

“We are the hopers and the changers,” said Nora Guthrie, quoting her father, to the audience of 350 scientists, drug company representatives, and family advocates. “The note of hope is the only note than can help us or save us from falling to the bottom.”

CHDI keynoters, who always come from HD-affected families, aim to inspire researchers’ quest for treatments. (I led off the 2011 event.) Guthrie interweaved her father’s music – he wrote “This Land is Your Land,” performed at President Barack Obama’s 2009 inaugural celebration – with the family’s struggles with HD.

CHDI Chief Scientific Officer Robert Pacifici, Ph.D., with Nora Guthrie (photo by Gene Veritas)

As reported in my previous article, the conference closed with the “best news since the discovery of the gene” in 1993: the Ionis Pharmaceuticals drug IONIS-HTT_Rx lowered mutant huntingtin protein an average of 40 percent, with a maximum reduction of 60 percent, in patients’ cerebrospinal fluid in a Phase 1/2a clinical trial (testing mainly safety and tolerability).

Based on animal studies, that translates into reductions in the cerebral cortex ranging from 55-85 percent. Ionis partner Roche, a major pharmaceutical firm based in Switzerland, confirmed that it would take the unusual step of skipping a Phase 2 trial (testing efficacy for the first time) and going directly to a Phase 3 (test and confirming efficacy in hundreds of participants).

I was elated to meet Nora, hear the Phase 1/2a results, and interview Roche representatives about the next steps in the clinical trial program for RG6042, the drug’s new name. (Roche and HDSA will update the HD community on Phase 3 eligibility criteria and other details.)

Upcoming articles will feature my interviews with the Roche officials and Guthrie.

Erik Lundgren (left), lifecycle leader of the Roche HD program, Gene Veritas (aka Kenneth P. Serbin), Mai-Lise Nguyen, patient partnership director of the Roche HD program, and Lauren Boak, Ph.D., Roche global development team leader (selfie by Erik Lundgren, Roche)

How early does HD start?

With several dozen presentations over 72 hours, the conference was a barrage of information about HD. Despite the positive news, like the six previous CHDI conferences I’ve attended, this event brought a stark reminder of the devastation caused by HD and the community’s urgent need for treatments.

I tested positive for the HD gene in 1999 and will, unfortunately, inevitably develop symptoms – unless a treatment becomes available soon. Watching the scientists’ presentations – many referred to the havoc caused in HD-affected brains – felt like getting a preview of how I’ll decline and die.

Sandrine Humbert, Ph.D., of the Université Grenoble Alpes (France), discussed the role of the huntingtin protein in the development of the cortex (the largest portion of the brain) of mice. Her research explores HD as a possible “developmental disorder,” that is, the progression of symptoms from the earliest stages of life, given that people like me are born with the genetic defect.

Dr. Humbert said that subtle signs of the disease appear “years before” the appearance of involuntary motor movements, which doctors until recent years used as the indicator of onset. Perhaps drugs targeting the “abnormal development” of the brain will be needed to “delay disease onset,” she concluded.

Further research is needed in this new area of HD science. Still, Dr. Humbert’s presentation and the subsequent Q & A with scientists made me wonder: as I push 60, are the memory lapses and other cognitive changes I’m experiencing because of ordinary aging – or HD?

In the video below you can watch the discussion of this point. For Dr. Humbert’s complete presentation, click here.

How early do Huntington's disease symptoms start? from Gene Veritas on Vimeo.

‘A bucket of cold water’

My interactions with physicians, scientists, and HD family members further reminded me of my “race against the genetic clock” and the challenges faced by HD families.

Despite the air of excitement about the Ionis Phase 1/2a results, one doctor familiar with my story cautioned me about the extensive time needed for Phase 3: “It’s a little bit naive to not consider that you might not be ready for the Ionis drug.”

“I feel like you’ve just thrown a bucket of cold water on me,” I told her.

The range of onset for someone with my mother’s and my level of mutation is between the late 40s and late 60s. She probably developed symptoms in her late 40s. She died at 68. At 58, I’m extremely lucky to have gotten this far without symptoms.

I can’t wait much longer for a drug. If successful, RG6042 probably won’t reach the market for five or six years – and that’s an optimistic scenario, since Phase 3 could fail.

The physician reminded me of the importance of planning carefully for the onset of symptoms, citing the case of one patient who was able to remain at work after some adjustments to his routine.

She did note that my advocacy and coverage of the CHDI meetings might be delaying onset: they provide me with purpose and intellectual enrichment.

Reliving the shock

At one lunch, I briefly recounted my family’s HD story to a group of researchers and the Swiss neurologist Jean-Marc Burgunder, M.D., who chairs the executive committee of the European Huntington’s Disease Network, a CHDI-supported nonprofit network for advancing research, facilitating clinical trials, and improving patient care.

I explained that, with no prior knowledge of HD, I received a bombshell in a phone call the day after Christmas 1995. In the space of a few minutes, I learned of my mother’s genetic test and diagnosis; my 50-50 chance of inheriting the gene; and the potential risk for any child I might father.

Dr. Burgunder observed that HD testing centers now have a protocol that includes notifying potentially at-risk family members about genetic testing and counseling by geneticists and psychologists.

Back then, however, all I could do was to call my mother’s geneticist to get more information about HD and genetic testing.

To relive the emotional pain of that day and look back on the improved genetic testing process made me feel as if I were going through an out-of-body experience.

Sadly, learning about HD for the first time remains a shocking experience that won’t be eliminated until we have effective treatments.

Listening to other HD family members recall their stories of genetic testing of their children, I also remembered the months-long, anxiety-ridden process of having our daughter tested in the womb for HD. Luckily, she tested negative.

Research: ‘It’s for you guys’

Despite my renewed fears about HD, the final, upbeat session on “huntingtin lowering”  (reducing the amount of huntingtin protein in brain cells) lifted my spirits. In addition to the Ionis news, it included an update on another, recently started Phase 1b/2a gene-silencing clinical trial, PRECISION-HD, run by Wave Life Sciences. (Click here to watch a video of the presentation.)

During that session, I sat next to Scott Zeitlin, Ph.D., of the University of Virginia, whose presentation concerned his research in transgenic HD mice, a common tool of researchers, to measure the effects of lowering huntingtin. He described the types of changes in the animals’ brains that also compromise the human brain.

I was heartened to hear his conclusion.

“Many of these earlier changes that we see can be reversed fairly quickly,” he said of the experiment. “So I’m enthusiastic about this.”

Though the presentation was based on unpublished research – scientists don’t like to get “scooped” – Dr. Zeitlin gave permission to post it online (click here to watch).

“It’s for you guys,” he said, referring to the HD community and echoing the ethos of the quest for treatments.

Scott Zeitlin, Ph.D., with Sarah Tabrizi, FRCP, Ph.D., lead investigator of the Ionis Phase 1/2a trial (photo by Gene Veritas)

Personal and community milestones

I left the conference at 10:45 p.m. on March 1, as the farewell banquet wound down. I had drunk a couple of cups of strong black tea – normally something an HD gene carrier should avoid but which I needed for the 140-mile drive to my home in San Diego.

I arrived at 1:10 a.m. the next morning and, wired from the tea and the conference, started work on my article about the event. I finally went to bed at 5 a.m. – also not good for an HD gene carrier but perhaps understandable given the circumstances.

It was titled: “The best news for the Huntington's disease community since the discovery of the gene: Ionis trial data revealed, Roche confirms jump to Phase 3” (click here to read more).

Appropriately, it was entry number 250 in this blog: a personal milestone symbolic of my avoidance of symptoms, of my advocacy, and of the hope for treatments or even a cure.

(Visit my Vimeo album for other presentations and interviews at the conference.)

(Disclosure: I hold a symbolic amount of Ionis shares.)

Faith in each other: sticking together through the challenges of Huntington's disease

This article is dedicated to my lovely wife Regina and to HD caregivers.

In 2017 my wife Regina and I marked 25 years of marriage with several celebrations, including a May dinner in Rome before meeting Pope Francis at #HDdennomore and then at one of our favorite San Diego restaurants on our anniversary, December 8.

Throughout last year, I relished the many triumphs of our life together: establishing successful careers, building important friendships, and raising our daughter Bianca, who will graduate from high school in June.

I have also reflected on how Regina and I have confronted the ordeals of Huntington’s disease, the debilitating, genetic neurological disorder that took my mother’s life twelve years ago this month. Because I too carry the HD gene, I will inevitably develop symptoms.

Last year, former San Diego Chargers PR director Bill Johnston exemplified the commitment to caregiving when, after 38 years with the team, he skipped its transfer to Los Angeles to keep his wife Ramona in an award-winning HD care facility.

“He didn’t run away from his marriage vows,” HD community member Dave Elliott reacted to the news in a Facebook comment. In HD families, those vows imply a heightened commitment.

Gene Veritas (aka Kenneth P. Serbin) and Regina Serbin at the Vatican Museums, with St. Peter's Basilica in the background, Rome, May 2017 (photo by Bianca Serbin)

Avoiding the HD shipwreck

Regina and I have faced the challenges of HD together.

The day after Christmas 1995, we received the terrible news that my mother had HD, that I had a 50-50 chance of inheriting the genetic defect, and that the children we planned for also faced a risk.

Many relationships shipwreck upon receiving such news (click here to read more).

However, Regina stood firmly by my side. One night, as I lay beside her gripped with fear, she hugged me tightly.

In 1999, Regina sat by my side as a geneticist revealed that I had tested positive for the HD gene.

Seven months later, we shared a tremendous sense of relief with the news that the baby in her womb, our daughter Bianca, had tested negative.

In 2011, Regina sat in the front row as I delivered the keynote address at the “Super Bowl” of HD research, the Sixth Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc.

Each day, Regina lives with the fear that she could lose me to HD. Like my “HD warrior” father, who cared for my mother daily for more than a decade, she faces the prospect of watching (and tending) to my slow deterioration and loss of self.

However, not once has she blinked in her commitment.

With faith in each other, and also in the Creator, we have stared down the lion of HD. Striding side-by-side in annual Team Hope Walks, we yearn for an effective treatment.

A healthy relationship might delay onset

Like any long-term relationship, ours has had its ups and downs. Sometimes our different cultural backgrounds (Regina’s from Brazil) have led to disagreements. Overall, though, we have come to accept and appreciate each other’s foibles.

Ken and Regina in front of the Sugar Loaf Mountain in Rio de Janeiro, 1991 (family photo)

We’ve built a united front in running the household, helping Bianca prepare for college, and strengthening the family finances, preparing for the likelihood of my disability.

Whereas my mother’s HD symptoms started in her late 40s, at 58 I have fortunately avoided HD onset.

Scientists are still seeking to explain the differences in onset in people with identical HD mutations like my mother and me. I’ve strived to lead a healthy life, as I’ve chronicled in this blog.

Though the data from studies is complex, science suggests that healthy relationships can help promote overall health.

I firmly believe that I remain asymptomatic in good part because of Regina’s love and support, and because of our shared mission to build a family and raise a thriving child, soon to turn 18.

Treasuring my family

In our frenetic society, and as my aging seems to make life move faster, it becomes easy to take Regina for granted in our daily routines.

I feel a deep need to stop time and savor every moment with Regina and Bianca.

As I've pondered the deeper meaning of our marital commitment, I've focused on what's essential: treasuring them fully.

Staying when the Chargers leave: a leading Huntington’s disease advocate sets a gutsy, loving example

After the San Diego Chargers’ recently announced move to Los Angeles, team public relations director and Huntington’s disease advocate Bill Johnston made a gutsy, loving decision: after 38 years with the Chargers, he will quit so that his HD-afflicted wife Ramona can stay at the highly-regarded San Diego nursing home where’s she spent the last decade.

Bill made his decision after thoroughly researching nursing homes in Orange County, which is much closer to the Chargers’ new Los Angeles headquarters than San Diego County. He visited seven facilities, paying special attention to their ability to conscientiously care for someone with HD. As the HD community is all too painfully aware, such facilities often provide poor care.

Bill did not find what he wanted. He opted for Ramona to remain at Edgemoor Hospital in Santee, located next to San Diego. A public nursing home, Edgemoor has cared for dozens of Huntington’s patients over the past several decades.

“Everybody would make the same decision I am making if they were in my shoes,” Bill told the San Diego Union-Tribune. “It’s just the situation I find myself in.”

Bill awakes at 4:55 a.m. daily and visits Ramona at Edgemoor before heading to work. She was diagnosed with HD in 1999 but had showed symptoms earlier. She is now in the late stages of the disease, confined to a wheelchair and unable to care for herself. The native San Diego couple met in high school and married in 1983.

“She can’t talk anymore, but she’ll make some sounds,” Bill told the Union-Tribune. “Sometimes, I think she’s trying to say my name. Maybe it’s just wishful thinking.”

The Johnston team at the 2014 Rock-n-Roll Marathon raising funds and awareness for the Huntington's Disease Society of America. Bill has his arm around Ramona, in wheelchair. Daughter Hayley stands directly behind Bill (photo by Andrew McClanahan/PhotoRun.net)

‘I’ll always do what I can’

By interrupting his career and staying in San Diego, Bill is rolling with one of the many punches thrown by HD. His son Jared, 31, tested negative for HD. Daughter Hayley, 28, remains untested; she has a 50-50 chance of having inherited the HD genetic defect from Ramona.

Other HD families have adapted their lives dramatically to meet similar challenges. In my family, my mother died of HD, and I carry the gene. Since my mother’s diagnosis in 1995, HD has frequently dominated my family’s life. Fortunately, our daughter tested negative and is today a healthy teenager.

Bill’s situation reminded me of my own. In 2007, in a wrenching, career-changing decision, I turned down a major job offer in Miami to remain in California, a biotech state with crucial public support for stem cell research. California also has HD-involved companies such as Ionis Pharmaceuticals, Inc., which is currently running a historic Phase I clinical trial of a gene-silencing drug. Most important, remaining in California allowed my wife to keep her relatively well-paying teaching job and pension, our financial lifeline if I become disabled.

I had also bonded with Bill and many other members of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego). Through chapter events, Bill and his family have raised nearly $3 million for HDSA. Their leadership and fortitude have inspired people in the local HD community and beyond.

In response to my e-mail query about his plans for future advocacy, Bill wrote: “I’ll always do what I can.”

“Bill has been a ‘tour de force’ in advocating for the HD community in San Diego and nationally,” HDSA-San Diego president Beth Hoffman, Ph.D., wrote in an e-mail. “Bill has tremendous energy and passion, and brings wonderful and new ideas to our fundraising efforts. He’s always been there to drive the chapter’s success. We are thrilled that Bill will remain in San Diego and look forward to expanding our efforts towards the HDSA mission with him.”

“I am not surprised by Bill's decision to stay,” long-time HDSA-San Diego board member Misty Daniel wrote. “His dedication to Ramona and our HD community has never faltered over the years. Bill's decision to stay reaffirms what most HD families know: that family truly is everything.”

Ramona with Chargers star and HDSA supporter Antonio Gates at the 2007 Celebration of Hope Gala (photo by Gene Veritas)

Change means new opportunities

After 56 seasons in San Diego, the Chargers’ departure angered local football fans and civic leaders. “The Los Angeles Judases have betrayed us for 30 pieces of silver,” wrote Union-Tribune sports columnist Nick Canepa, who is also a member of HDSA-San Diego’s advisory board, in reference to the move

The team’s’ exit has also posed a huge challenge for HDSA. Bill’s involvement since 1999 added the team’s high-profile pro-football brand to most major fundraising events, including the chapter's annual gala. For years, HDSA-San Diego board meetings took place at Chargers’ headquarters, and team owner Dean Spanos allowed use of that facility for fundraisers. In 2003, Spanos and his wife Susie received HDSA’s Harold Leventhal Community Service Award at a dinner in New York City.

However, Bill’s decision to remain has helped offset the feelings of desertion resulting from the Chargers’ move. His connections, creativity, and dedication will help the chapter strike out in new directions. As Bill has always made clear, he’s also in this fight for Hayley – and for all families affected by HD.

Bill and Hayley Johnston exchange ideas at an HDSA-San Diego event in May 2016 (photo by Gene Veritas).

Over the years, other chapter members and even Bill himself recognized the danger of relying too heavily on the Chargers. As a result, the chapter has strived to diversify its sponsor and donor base.

The Chargers’ exodus might also provide unforeseen benefits such as distancing HDSA-San Diego from the uncomfortable connection to a sport now linked to brain diseases similar to HD.

“The Chargers organization has been stellar in its support,” Dr. Hoffman wrote, noting the chapter’s gratitude for the players’ “enthusiastic participation” at fundraisers. “We will miss our Chargers.

“That said, the HDSA-San Diego board and all of our wonderful volunteers are hard at work attracting sponsors and making our events even more exciting. Whenever there are changes, there are new opportunities. Our job is to find and leverage these opportunities to their maximum potential.”

‘Crying a few million tears’ for the fallen victims of Huntington’s disease

Huntington’s disease relentlessly attacks the brains of its victims and in other ways wearies many of us involved: advocates, caregivers, gene carriers like myself awaiting onset, young people pondering genetic testing.

Knowing at 56 how fortunate I am to have remained healthy beyond my deceased mother’s age of onset, I took a “break” from advocacy over the summer. (Click here to read more).

However, on October 24 the hard reality of HD hit home once again.

Responding to a request from the Huntington’s Disease Society of America (HDSA) for information on this blog’s impact in the “landscape of HD communication,” that morning I wrote a long e-mail detailing how At Risk for Huntington’s Disease has reached thousands of people via both the web and Facebook.

Since I began writing in January 2005, the blog’s 230 articles have garnered more than 650,000 page views. More than 3,200 Facebook friends also have access to the blog in 60 HD-related groups.

“I think one of the most important aspects of the blog has been the wide range of topics it has covered: my family's struggles with the disease (mother dying, me testing positive, [my daughter] testing negative, etc.), the many social implications of the disease, advocacy issues, and the search for treatments,” I observed.

Reviewing the blog’s history reminded me of many painful moments in my struggle and of the HD community's collective suffering.

A nervous stumble

That afternoon, I had my annual HD checkup with a neurologist.

As with past checkups, in the hours before the visit, I became apprehensive about my performance on the various neurological tests.

One involves walking heel-to-toe along a straight line. This year I began that test with a bit of a nervous stumble. I wondered if that might be an early sign of onset.

I regained my balance and successfully completed the walk. I was going to suggest to the doctor that I repeat it, but she told me that I had done fine.

The other tests also went well.

Fortunately, she once again declared me symptom-free.

Tensing up at support group

Naturally, I felt greatly relieved.

However, I faced yet another challenging HD moment that evening: the annual research update at our local support group, from Jody Corey-Bloom, M.D., Ph.D., the director of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego.

Each year I record Dr. Corey-Bloom’s talk, later posted here and on Facebook. Striving to produce a video of good quality, I tensed up as I focused in and out and turned the camera to follow Dr. Corey-Bloom’s movements. This was vital information for the HD community.

With the rest of the audience, I intently listened to her presentation of the latest research breakthroughs and news of the crucial clinical trials that provide hope for effective treatments and perhaps even a cure. The update included a detailed discussion of the historic gene-silencing Phase I trial by Ionis Pharmaceuticals, Inc. (Click here to read more about the Ionis trial.)

Given the many projects in progress, Dr. Corey-Bloom spoke for 90 minutes, her longest update ever.

Seeing HD-affected support group attendees reminded me of my good fortune but also of the inevitability of my own onset, if a treatment isn’t found.

You can watch Dr. Corey-Bloom’s update in the video below.

Update on Huntington’s Disease Research 2016: A Presentation by Dr. Jody Corey-Bloom from Gene Veritas on Vimeo.

‘A life-long Holocaust’

Still pondering the exhausting moments of October 24, the next morning I was jolted by a powerful comment on my September 15 article "Dreams for a better future: an opportunity we Huntington’s disease people and our families are denied."

The words speak for themselves:

I am in nearly the same situation as the author of this blog. I am now 59 years old and will be 60 in February. Huntington's Disease killed my father & half my family. My sister is dying now in an extremely horrible case where she is burning so many calories that she looks like a skeleton. I have actually had continual muscle contractions all my life since I was about 25 years old, but nothing else. I've been able to live my life and work and function normally (although, I never married or had children). I've wondered my entire life when it would happen to me. Now, at almost 60, I wonder if this is it, and this is all that will happen, and I wonder why. Why did it kill so many people in my family and not me?

I can't really imagine a more horrible experience in a family. I had a doctor once tell me that he had never seen a single person come out of a Huntington's family who wasn't emotionally damaged for life. He described it as a kind of "life-long Holocaust" where you live your entire life watching one persona after another die the most horrible deaths, and unlike the Jews, you don't have anyone you can blame.

I have cried a few million tears in my life, but now approaching 60, I am able to see some things I could not have seen years ago. I look at myself and my family, and I realize that none of us are the people we would have been without this disease. We all became so much "more." We all learned to truly "see" people, to feel empathy with all people suffering, to appreciate all the small moments and the good things in life. We all embarked on a life-long journey to find meaning and to understand our place and purpose in this world. And, when I look around and see all the various kinds of suffering in this world, it makes me think that maybe this has always been the reason and the purpose for it – to cause us to become "more."

These words not only rekindled my desire to defeat HD; most importantly, they also inspired compassion.

Sarah falls to HD

A diagnosis for Huntington’s disease forever changes the lives of affected individuals and their families.

Without an effective treatment, thousands of people around the world continue to succumb to HD.

On October 17, Huntington’s took the life of 37-year-old Sarah Brook of Tamworth, England.

Many in the HD community became familiar with Sarah’s struggle on “Sarah’s Dream,” a Facebook page run by her mother Gail and stepfather Jeff. “Sarah’s Dream” is also the name of a motorcycle the family used in the effort to raise funds and awareness. According to Gail, Sarah’s first symptoms appeared in her early twenties. Sarah's father died of HD at the age of 35.

“This is the saddest time of my life,” Gail wrote on Facebook. “Nothing could compare to the loss and heartbreak I feel. […] It's the wrong way round, this shouldn't be happening. I can't bear the thought that I'll never see her again. I want to hold her so much.”

Sarah’s funeral took place on November 3. Her body was cremated.

“We've put her near the TV,” Gail wrote of Sarah’s ashes, held in an urn. “She's always liked her telly, and [we] will scatter them in the place she chose, when we feel ready.

Despite their enormous loss, Gail and Jeff will continue in the fight against HD.

“We've been married for 33 years and he adopted Sarah, knowing that she was at risk of HD,” Gail wrote me in a Facebook message. “We have agreed to carry on with Sarah's Dream, in memory of Sarah.”

We need to find a way to wipe away the tears of HD. Perhaps we can be heartened by the profound dedication to the cause displayed by Sarah's family.

Above, a collage of photos of Sarah Brook. Below, Jeff Brook riding Sarah's Dream (family photos).

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

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

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

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

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

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

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

Helping the researchers

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

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

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

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

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

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

A neurological exam

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

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

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

I will soon provide an update on SIGNAL.

Enroll-HD’s positive impact

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

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

Has the program met CHDI’s expectations?

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

What’s been the impact?

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

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

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

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

Challenges in Latin America

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

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

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

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

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

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

Building a common cause

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

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

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

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

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

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

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

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