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.

The little things that are really big: caregiving in families with Huntington’s disease

The everyday kindness of the back roads more than makes up for the agony of the headlines – Charles Kuralt

As a member of a Huntington’s disease family, I have become deeply familiar with the common yet often unheralded human practice of caregiving.

My “HD warrior” father Paul Serbin cared for my HD-stricken mother Carol for more than a decade.

My mother died ten years ago this week. Her passing sent me into a months-long dual spiral of anxiety and depression: I had inherited the HD gene from her, and seeing her demise provided a portent of my own future (click here to read more).

Because of the inevitability of HD onset, I know that I too will require caregiving.

Furthermore, as a father, I’ve spent the past fifteen years helping my wife Regina raise our daughter Bianca, a special form of caregiving. Bianca tested negative in the womb, thus avoiding the specter of juvenile Huntington’s. As we teach her to drive and begin discussions about college, our role as parents becomes both more rewarding yet more complex.

Three weeks ago, the balance shifted, as Bianca and I became temporary caregivers for Regina: she underwent an operation to repair a torn rotator cuff and must keep her right arm in a sling for at least six weeks.

Completely interdependent

Caregiving is about all of the little – but really big – things we humans do for each other.

It’s how families, hospitals, and nursing homes run.

We are completely interdependent.

As we’ve helped Regina over the past several weeks, the meaning of caregiving has become ever more clear to me.

It involves small but important tasks: bathing her, spraying on deodorant, buttoning her shirt, adjusting her sling, driving her to doctor’s and physical therapy appointments, taking over her share of car pool duties, providing assistance in the kitchen, exercising her disabled arm – these and many more tasks have highlighted for me the importance of caregiving, taught me to be more sensitive to Regina’s needs, and reminded me of what’s most important in life.

Despite a busy high school life, Bianca has helped out, too.

It’s brought us closer together.

Bianca (left), Regina, and Kenneth Serbin (aka Gene Veritas) (photo by Bianca Serbin)

Valid and important emotions

I’m certainly no saint. I’ve done my share of grumbling! And sometimes I feel overwhelmed.

As I’ve learned from news items posted on Facebook HD discussion pages, caregiving experts say it’s okay to experience feelings associated with caregiving such as anger, boredom, frustration, and impatience.

“Whether you become a caregiver gradually or all of sudden due to a crisis, or whether you are a caregiver willingly or by default, many emotions surface when you take on the job of caregiving,” a recent article at Dementia Today states. “Some of these feelings happen right away and some don’t surface until you have been caregiving for awhile. Whatever your situation, it is important to remember that you, too, are important. All of your emotions, good and bad, about caregiving are not only allowed, but valid and important.”

As another article suggests, caregivers need to face emotions directly, find healthy ways to release anger, share feelings with close friends, and take breaks to pursue enjoyment.

These recommendations can apply to short-term caregiving situations such as recovery from an operation but also to long-term situations involving HD, Alzheimer’s disease, and other afflictions.

Overlooked and undervalued

Until my mother went into a nursing home in the final months of her life, my father cared for my mother’s daily needs with the assistance of a professional caregiver who visited their home a few hours each week. He helped her in the bathroom, fed her, and pushed her wheelchair.

She was the love of his life. He was stubborn about accepting more help at home and getting her physical therapy, but each day he climbed with her into the HD trenches.

Not once did I hear him complain. Maybe he should have!

In our celebritocracy, such dedication goes unrecognized. Each year family caregivers are estimated to provide the equivalent of nearly half a trillion dollars in unpaid care.

In America, care and caregiving are “overlooked and undervalued,” writes Zachary White, Ph.D., the author of the blog The Unprepared Caregiver.

Unlike highly valued, professional jobs, informal caregiving isn’t considered a career.

“Parents and relatives and friends won’t be able to brag about your experiences.” Dr. White writes. “There are no ‘schools’ of informal caregiving – no Harvard or Stanford to use as a guiding goal from which others can respect and admire. Others may speak highly of your role and your efforts, but it begins and ends there.”

While taking care of loved ones, members of the HD and other neurological disease communities have long advocated for better caregiver assistance and nursing home care – including disease-specific instruction for health aides. These will remain daunting challenges for the foreseeable future.

Preemptive caregiving

I believe that Regina’s devotion to me and our family is a big reason why I’ve passed my mother’s age of HD onset. She helps provide for the family by working as a full-time elementary school teacher; she sees to it that Bianca and I eat healthily; and she supports my HD advocacy.

She has done a lot of preemptive caregiving.

Caring for Regina during her recovery and remembering my mother’s struggles with Huntington’s have led me to reflect on my future caregiving needs.

As I race against the genetic clock and await the development of treatments for this incurable disorder and a health care system more responsive to those with brain diseases, I want to avoid becoming a burden on my family.

By maintaining good health in the present, I can perhaps reduce that future burden.

However, I know that, for each HD family, this is uncharted territory. We can forge ahead by caring for our our family members – and for the larger community.

One year out of the terrible, lonely Huntington’s disease closet

Today marks one year since I definitively exited the terrible and lonely Huntington’s disease closet.

On November 4, 2012, my article “Racing Against the Genetic Clock” appeared online in the The Chronicle of Higher Education, the first time I shared my story in a mainstream publication (click here to read the article). It was also published in the November 9, 2012 print edition.

By revealing publicly that Gene Veritas was Professor Kenneth P. Serbin, a historian who specializes in Brazil, I took one of the most important steps in my 15-plus years of HD advocacy.

I no longer hid the potentially devastating truth about my genes: I carry the mutation for Huntington’s and will inevitably develop its deadly symptoms.

After guarding the secret of my risk for HD ever since my mother’s diagnosis in late 1995, I could fully engage in the battle against, as I wrote, “the stigma and fear surrounding Huntington’s and other neurological disorders. In so doing, I also hope to help galvanize increased support for brain research.”

I also could finally begin to integrate my academic career with my HD advocacy and my growing, profound interest in the history of science, technology, and medicine.

Gene Veritas (aka Kenneth P. Serbin) (photo by Bianca Serbin)

Big strides

Over the past year, I have made important strides in my advocacy.

With the publication of my family’s story, many people within my circle of friends and professional colleagues learned in detail about the challenges posed by orphan and genetic diseases, not just the symptoms but the serious social implications.

For the first time, I publicly raised funds for the cause, bringing in more than $16,000 to the Serbin Family Team at the April 14 Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA).

At the University of San Diego (USD), my employer, I spoke openly about Huntington’s disease. Through colleagues I even learned of other families in the area facing the risk of HD. (Click here to read the feature story on me and my family on the university’s website.)

In the spring, I participated in the first meeting of faculty members aiming to establish an undergraduate concentration in medical ethics. I’ve also discussed HD and genetic testing with a USD biologist studying the ethical dilemmas raised by genetic practices.

The highlight of my academic work this year took place at the World Congress on Huntington’s Disease from September 15-18 in Rio de Janeiro, Brazil. I gave a presentation on coping with HD. I also reported on the event and posted more than 30 videos I had shot. In São Paulo, on September 21, I delivered a speech on HD and bioethics.

As I wrote, “I felt vindicated in my decision to go fully public about HD … and meld my professional and personal lives with my advocacy.”

Concern about health care

On October 16, as the U.S. Congress voted to end the two-week government shutdown resulting from Tea Party Republicans’ attempt to block Obamacare, I published a blog article describing how I had revealed my gene-carrier status to my health plan.

At the suggestion of one of the leaders of the HD movement, I sent a copy of my article to Speaker of the House John Boehner, who has dueled politically with President Barack Obama over the Affordable Care Act.

“I am dismayed at how the national debate over health care has taken an unhealthy and highly unproductive turn,” I wrote to Boehner. “Having seen my mother succumb to Huntington’s disease, and facing the threat of that disease myself, I have witnessed firsthand, and experienced, the terrible drama of our inadequate system of care for people with neurological and other disorders that carry a large stigma…. Please do your utmost to bring better care for all Americans and create a more productive national dialogue.” (So far I haven’t gotten a response.)

On October 20, the Brazilian newspaper O Estado de S. Paulo published a Portuguese-language opinion piece by me discussing my message to Boehner and the embarrassing behavior of the U.S. political leadership. I wrote that citizens like me were anxious to see the country get back on track with its economy and health care system.

A scholar-advocate

Last night, I spoke to a good friend and long-time professional colleague who provided frequent support over the past two-and-a-half years as I prepared to make my definitive exit from the HD closet.

“Tomorrow is the first anniversary of my article in the Chronicle,” I told him.

“Are you glad you did it?” he asked.

“Of course!” I responded.

“And the sky didn’t fall!” he rejoined.

Indeed, the days of the terrible and lonely HD closet are now in my past.

The memories, however, are still fresh. And when the nation debates health care as it did again recently during the shutdown, I fear a return to that painful period of my life in which I felt compelled to hide the threat of HD.

I also know that thousands of HD families around the world remain in the HD closet – because of lack of knowledge about the disease, stigma, fear, and the devastating symptoms.

I now refer to myself as a “scholar-advocate.”

Very soon I plan to even better integrate my identity, setting up an e-mail signature with both my real name and pseudonym and links to HDSA, my blog, and my Chronicle article.

With this new dual public identity, I will forge ahead as I seek to promote collaboration in the HD community, greater awareness about the disease and its many challenges, and an end to the fear of sharing our stories.

A gene-positive dad’s reflections on Huntington’s disease, parenthood, and the fragility of life

Our “miracle daughter” Bianca, who tested negative in the womb for Huntington’s disease in early 2000, recently turned 13.

As my wife Regina and I have watched Bianca transform before our very eyes into a teenager, I have contemplated the beauty and fragility of this miracle of life.

Bianca’s latest birthday was doubly special: she became a teenager, and we again quietly gave thanks for her gene-negative status.

Had Bianca tested positive for HD, she might now be facing the scourge of juvenile Huntington’s (JHD), a particularly cruel form of the disease caused when a gene-positive parent, usually the father, passes on a more severe form of the genetic mutation, causing onset to occur as early as the toddler years.

JHD strikes while a person is still developing physically and neurologically. JHD can cause considerable pain, and some patients require operations for problems such as deformed limbs.

Few JHD patients survive beyond the age of 30, and some die during childhood.

Whenever I witness JHD families’ terrible struggles, I breathe a sigh of relief that we as a family avoided such an immense burden on top of my race against the genetic clock.

Nobody’s exempt from life’s challenges

However, as a father striving to provide Bianca with a safe, stable, and promising upbringing, I know that freedom from HD doesn’t mean freedom from life’s other risks. Regina and I must still help her negotiate not only the successes, but also the many challenges that lie ahead – and to know when to step back and let her handle them on her own.

We’re also aware that each day illnesses of all sorts, genetic and otherwise, strike many teens and young adults. The other day I learned that a friend’s son faces an incurable, though partially treatable genetic disorder. My heart sunk when I learned of the difficulties that await this young person.

The HD community faces many tribulations, but so many others suffer, too. Understanding this helps Regina and me to put our family’s situation in perspective.

Genetics, families, and ethics

Child-rearing provides the key to understanding a major human purpose: propagating the human species and aiming toward a brighter future.

Today the study of genetics and the search for treatments for life-threatening genetic conditions such as HD constitute a new human purpose but also new, ever-more-nuanced definitions of conception and the family.

Regina and I faced the terrible possibility of bearing a child with the HD gene. In 1999, preimplantation genetic diagnosis (PGD) wasn’t possible. Today it helps families eliminate HD forever from the family line

In the Genomic Era, families can take advantage of new scientific tools, but use of these tools also forces us to confront new ethical and moral questions.

Best strategy: honesty

Regina, Bianca, and I rarely discuss HD as a family matter, but it does frequently come up in the context of my advocacy as a volunteer for the Huntington’s Disease Society of America (HDSA) and writer of this blog.

In 2012 and 2013 the three of us took part in the local annual HDSA Hope Walk to raise funds and awareness.

Kenneth (left), Regina, and Bianca Serbin with Allan and Jane Rappoport, the Serbin Family "Beat HD" Team in the 2012 HDSA-San Diego Hope Walk (photo by E. J. Garner)

Bianca has also read several articles from this blog.

Responding first to Bianca’s curiosity about my mother Carol’s illness and eventual death from HD in 2006, I have always answered her questions about HD with explanations appropriate for her age at the moment. In so doing, I have relied on my knowledge of the science of HD and other families’ experiences with its social impact – but also on my gut.

Seeing how denial, stigma, and discrimination tear apart HD families – including parts of my own – I have always adopted a strategy of openness and honesty in discussing Huntington’s with not only my daughter, but other members of my extended family and my “HD family.”

New vistas

Parenting never ends. It requires constant attention, patience, and spousal teamwork. Each stage in the child’s life is unique and demands creativity and receptivity on the part of the parents.

During our vacation in Europe last month, Regina and I made a special effort to open up new vistas to Bianca and become closer to her. She is striving to become independent, but, even though she may not admit it, she still needs and wants parental love and attention.

Now, as we prepare to return to the routine of school, I feel great pride in Bianca’s good health and accomplishments.

However, I also worry about the many challenges of the teen years, and I wonder increasingly about her rapidly approaching young adulthood. She is just five years from entering college!

Strengthening bonds

I feel extremely fortunate to have so far avoided the inevitable symptoms of HD. An HD-free life has allowed me to enjoy my HD-negative daughter and protected her from having to confront living with a symptomatic dad.

As I await potential treatment breakthroughs, I savor every moment.

With each passing day, I become ever more conscious of the fragility of life.

However, as long as I enjoy good health, I will work to the utmost to strengthen my bonds to my family and to share the demands and joys of parenting with my wife.

Memories of genetic testing: from my mom to Angelina Jolie

My family’s experiences with genetic testing for Huntington’ disease rarely stray from my daily thoughts.

The day after Christmas in 1995, I learned that my mother had tested positive for HD, a condition I had never heard of. The devastating news that she was afflicted with an untreatable, fatal disorder set me on a quest to learn all I could about it and help find a cure.

In June 1999, I tested for HD primarily because my wife and I wanted to start a family. Sadly, I was gene-positive. That information changed my life forever, altering my career path and thrusting me into a race against my own genetic clock – and for the cure.

In January 2000, our daughter tested negative in the womb – one of the happiest moments of our lives. Now, as she enters the teen years and becomes independent, I realize how our decision to test her 13 years ago has liberated her and us from ever having to worry about HD affecting her or her own potential children.

Lately, I’ve been reliving the powerful emotions of those three experiences and reflecting on how genetic testing has both provided important life-planning tools for HD families and forced them to make the kinds of difficult decisions I have made.

When I read in an HD Facebook group about someone who has tested negative, I at first become extremely jealous and even a bit angry. Then I feel relief for that individual and his or her family and send on a note of congratulations.

When I see news of a positive test, I feel the need to offer comfort and encouragement – and to redouble my advocacy efforts.

Don’t rush, sit with your emotions

An instructive lesson on the promise and perils of genetic testing came in the presentation by genetic counselor Lauren Dennis on “HD and Genetic Counseling” at the February 25 San Diego-area support group meeting.

“Basically we’re giving you a yes or no to a situation where there’s no cure,” Lauren said as the started her overview of the counseling and protocols involved in the testing process. “We’re really looking into that crystal ball to give you that information. Once you have that information, there’s no going back. We want to make sure that you’re in a good place to get that information and be able to cope with it.”

This approach stems in large part from the risk of suicide associated with HD testing, Lauren explained.

Among many key points, she emphasized that individuals should not rush into testing.

“We don’t want this to be an impulsive decision,” she said. “Sometimes people pick up that phone and call us: ‘Gosh, I just learned that Huntington’s disease was in my family last week.’”

Such people sometimes want to test immediately, she said.

That scenario starkly reminded me of my own wish to undergo testing right after learning of my mother’s test and diagnosis for HD.

However, as I learned then, and as Lauren explained during her presentation, counselors often ask people like me to first learn more about the disease and the need to plan regarding potential issues like insurance coverage, career, and family planning

“You really need to sit with the emotions and the idea of what that result would mean for you and how it will impact your life,” she continued, referring to the required one-month wait between submitting the DNA sample from a cheek swab and obtaining the results. “You need time to do that.”

Limitations

As I listened to Lauren’s presentation and the subsequent Q&A session, I recalled the many other facets of my family’s experiences with testing.

Lauren explained that each individual or family seeking counseling is unique, so advice is offered on a “case-by-case basis.”

Ultimately, genetic testing is only the start of a family’s journey with HD, she concluded.

“That’s a huge limitation of genetic testing,” she said. “We can give you the yes or the no. We can’t tell you the when. We can’t tell you what age. We can kind of gauge from the family history – it might be similar…. We can’t tell you where, exactly what symptoms you’re going to have, or how severe they will be or how long your progression will be. That is a limitation. We don’t have that magic crystal ball.”

Lauren’s presentation is an excellent introduction to testing for any HD family interested in learning more about the process. You can watch it in its entirety in the video below.

New meaning

In definitively exiting the terrible and lonely “HD closet” over the past six months, the history of my family’s three HD tests has taken on new meaning.

As an HD advocate and historian, I’ve always had concern about the impact of genetic testing on society in general.

Now, after my employer, the University of San Diego, published an official website article on March 1 about my journey with HD, I’ve begun to implement my long-desired plan to more formally explore the history of science, technology, and medicine and link with university programs relevant to that area and HD research.

Recently I met with faculty members in charge of the university’s brand new neuroscience major. This is a hot field. Projected to take in 20 students its inaugural year, the program has already attracted some 100 students interested in the major.

In a couple years, after some careful planning and lots of research, I hope to teach a course on the history of the brain, which would be highly useful for neuroscience students. Also, as chair of my department, I am helping to lead the search for a new faculty member in the history of science, technology, and medicine who could potentially build additional bridges to neuroscience and many other campus programs situated in one of the world’s leading biotech hubs.

Medical ethics

Last month, the university posted an article about a new student-designed website, Genetics Generation, that aims to provide impartial information about genetics and engage the general public in conversations about genetics and ethics.

One of the site’s ethics case studies, titled “Huntington’s Disease and Personal Autonomy,” is like a page ripped out of my family’s story: a young, gene-positive man and his wife want to test their unborn child for the HD mutation.

However, unlike our story, this hypothetical couple encounters hesitation from their doctor, who counsels against obtaining information for a condition that may not affect the child until adulthood.

The case study ends with a reader’s poll: “if you were the doctor, what would you decide?”

Click here to read the entire case study and to register your vote.

I contacted the biology professor, Dr. Laura Rivard. The students produced the website as part of her course, Ethical Issues in Genetics. Our e-mail conversation led to an invitation for me to participate in a planning meeting for a new, multidisciplinary academic concentration in medical ethics.

As the healthcare and biotech industries continue to grow, the concentration would provide students with urgently needed perspective and reflection on matters such as the transformation of the healthcare system and issues in genetics.

I will join future planning sessions and offer my expertise on HD wherever it might be useful to students and fellow faculty.

Building these larger connections via my work as a professor will help me extend my HD advocacy to new spheres and highlight HD’s pioneering role in genetic testing and genetics research.

Walking in another’s genetic shoes

This past week the often terrible impact of genetic testing hit home once again as I heard the news that world-famous actress Angelina Jolie had revealed in The New York Times that she had undergone a preventive double mastectomy because she had tested positive for BRCA1, which sharply increases the risk of breast cancer and ovarian cancer.

I imagined how difficult it must have been to have received the news of her test, but I also felt relieved to know that medicine has found a way to reduce the risks for Jolie and myriads of others threatened with the possibility of breast cancer.

“My chances of developing breast cancer have dropped from 87 percent to under 5 percent,” Jolie, whose mother died of the cancer at the age of 56, wrote. “I can tell my children that they don’t need to fear that they will lose me to breast cancer.”

For some, the option of the double mastectomy might seem extreme, and, as commentators on Jolie’s situation noted, other approaches to combatting breast cancer do exist.

However, people should not judge Jolie. She made the best decision for her. Nobody can fully comprehend her decision until walking in her genetic shoes.

Likewise, nobody should judge HD families faced with the extremely difficult issues surrounding genetic testing and procreation.

Hoping for prevention

The minute I heard the report on Jolie, I thought of my own test – and the fact that for the HD community no preventive procedure or treatment exists.

Sometimes, HD-affected individuals, gene-positive people like me, and caregivers feel like jumping at a radical solution. We do so because of hopelessness.

My chances of HD onset are 100%. To reduce that by even half would be fantastic. To reduce it to 5 percent would be a miracle.

With the rest of the HD community, I’m rooting for the current and upcoming clinical trials aimed at testing approaches such as gene therapy, which could potentially halt, reverse, and maybe even prevent symptoms.

(May is HD Awareness Month! Learn more about the cause and donate by visiting the site of the Huntington's Disease Society of America.)

Feeling the hope

(I dedicate this article to the dozens of people who joined or supported the “Serbin Family Team” on April 14 in the 2013 Team Hope Walk-San Diego of the Huntington’s Disease Society of America, HDSA.)

Lately, I’ve been feeling great hope – even as my genetic clock ticks ominously – that researchers will find an effective treatment for Huntington’s disease and save me from following in the footsteps of my mother, who struggled against this so-called “devil of all diseases” for nearly 20 years before succumbing at age 68 in 2006.

Because the underlying causes of HD are untreatable, I’ve rarely permitted myself to have all-out hope during my 15 years of advocacy and personal fight to avoid the inevitable symptoms. I’ve braced myself for the impact of onset, even as I keep advocating for the cause on full throttle until our community, together with the scientists working overtime for effective treatments, achieves victory.

Hope is a precious commodity to be savored when breakthroughs occur. I’ve saved a couple bottles of Hangtime Pinot Noir, the wine served at the Parker Palm Springs hotel in 2011 at a reception after my first major speech on HD, delivered at the Sixth Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., in February 2011. I’m keeping at least one to celebrate on the day a treatment is announced.

Big news, a sense of relief – tempered by reality

In recent weeks, the science news and advocacy milestones have left me feeling particularly buoyant.

On April 2, I was thrilled with President Barack Obama’s announcement of the BRAIN (Brain Research through Advancing Innovative Neurotechnologies) initiative, which will spend hundreds of millions of dollars over the next decade to map the mysterious circuitry of the brain. Although HD researchers hope to find treatments before the potential benefits of BRAIN become available in a decade or more, the announcement of the project finally brings brain health and research to a long-overdue prominence in American politics.

The very next day, HDSA held a symposium at the U.S. Senate to mark the 20^th anniversary of the discovery of the HD gene. Dr. Francis Collins, the director of the National Institutes of Health and one of the scientists who helped find the gene, keynoted the meeting, which included presentations by key HD researchers about the prospects for treatments. As I watched the live streaming video of the event, I could feel the sweep of history as I reflected on the scientists’ words and my family’s odyssey with HD, beginning with my mother’s genetic test in 1995 and my own test in 1999.

Just a few days later, on April 8, the Swiss pharmaceutical giant Roche and Carlsbad, CA-based Isis Pharmaceuticals, Inc., announced a multi-million-dollar partnership to bring Isis’s potentially revolutionary HD gene-therapy drug into clinical trials, with a projected start date of the first half of 2014. I have followed the Isis project closely since 2008, visiting the company’s labs, interviewing its scientists, writing detailed articles about the research, and, in speeches to the HD community, citing the project as a great sign of hope.

As I prepared an article on this latest phase of the project, I felt a profound sense of comfort and elation as I pondered how the deal with Roche should accelerate the research, increase the potential for effective results for symptomatic HD people, and, for the very first time, allow scientists to envision ways of preventing presymptomatic people like me from ever developing the disease!

I let out a long sigh of relief – as I do again now in writing these words – and imagined a future without HD for me and the tens of thousands of families around the world devastated by the disorder.

However, since then I’ve tempered my enthusiasm with reality. Although scientists express genuine optimism about developing treatments, only one in ten clinical trials leads to a drug.

As I race against my genetic clock and past my mother’s age of onset, a treatment may not arrive in time to prevent my symptoms.

Nevertheless, the great feeling of hope lingers and brightens my days!

Our generous supporters

In the midst of these events, my wife, my daughter, and I sought fundraisers and walkers for the April 14 Team Hope Walk.

In the wake of my definitive exit from the “HD closet” (in an article in The Chronicle of Higher Education and an interview on the website of my employer, the University of San Diego), nearly 70  friends, colleagues, and other supporters donated more than $16,000 to the “Serbin Family Team” – more than three times our goal. (Overall, local HDSA board members expected the event to net more than $40,000 for the organization.)

Twelve volunteers joined us in the 5K walk at Tidewater Park in Coronado, CA, to help raise awareness about HD.

Members of "Serbin Family Team" at 2013 Hope Walk-San Diego (photo by Vince Margetta)

I felt enormous pride in my family, my friends and supporters, and the HD cause.

Love and humility

I was moved most by donations from individuals and families themselves hit with serious illnesses, all of them with at least a partial genetic basis: breast cancer, colon cancer, young onset Parkinson’s disease, fragile X syndrome, and multiple sclerosis.

My family and I learned of these other families’ struggles, including, in one case, a harrowing decision about genetic testing.

I was deeply moved by this outpouring of generosity and love.

For me, it was also a lesson in humility, a reminder that so many others suffer from disease, an opportunity to become more sensitive to others’ needs, including the need to support other causes.

Above all, the immense display of support for the “Serbin Family Team” stirred in me the same feeling of hope that I experienced in contemplating the Roche-Isis project.

Hope wins out

Sadly, just two days before the walk, I learned of the death of a fellow HD support group member, a 20-year Navy veteran and airline pilot whose career and life were cut short by Huntington’s disease. He was just 65.

“Damned disease finally won,” his mournful wife wrote me in an e-mail.

As on countless occasions in my battle against HD, I had to overcome a sense of hopelessness, which threatened to overpower all of the good feelings about the research and the Hope Walk.

At the Hope event, I hugged our departed friend’s wife. Everybody held a moment of silence for him.

Before setting out on the walk, I guided one of our team members, a ninth-grader with a passion for science and technology, over to the area where employees from walk co-sponsor Vertex Pharmaceuticals were congregating.

I introduced him to Paul Negulescu, the Vertex vice president of research, and mentioned that he aimed to become a researcher.

Paul invited him to visit the Vertex facility and, in the future, perhaps contribute as an intern.

“I want to cure diseases,” the budding scientist told me during the walk.

Our cause had lost a warrior, but the Hope Walk had helped prepare another to do battle.

(Below see other photos from the Hope Walk.)

"Serbin Family Team" members (left to right): friends Sofia, Jessica, Alejandro, and Victoria along with Ken Serbin, with San Diego skyline in background

"Serbin Family Team" members James Kohn (left), Ami Carpenter, and Ken Serbin at finish line

Vertex Vice President of Research Paul Negulescu (left), Ken Serbin, and Vertex Vice President, Biology, Beth Hoffman

"Team Vertex" and friends with San Diego-Coronado Bridge in background