CHDI keynoter Charlotte Raven reflects on her fight against Huntington’s disease and the dashed hopes of a clinical trial

 

Like many affected by Huntington’s disease, renowned British journalist Charlotte Raven longed for the chance to participate in a clinical trial of a potential treatment for the incurable disorder.

 

Charlotte was diagnosed with Huntington’s in 2005. She inherited the genetic mutation from her father, who, after a long battle, died from HD in 2016.

 

In 2019 Charlotte had her wish fulfilled in London. As part of its HD clinical trial program to evaluate the efficacy of tominersen – the historic first attempt to attack the disease at its genetic roots – the pharmaceutical giant Roche was recruiting volunteers for GEN-PEAK, a small, Phase 1 study run in tandem with the larger, main, Phase 3 study.

 

Charlotte became “patient 1,” the first individual in GEN-PEAK to receive tominersen. If successful, the main trial would result in all participants in the program, including GEN-PEAK volunteers, receiving the treatment.

 

In her keynote speech at the recent 17th Annual HD Therapeutics Conference, Charlotte recalled the immense hope she felt about tominersen, shared by HD families around the globe: “Ever since I’d been picked to be on the trial, I’d woken up every morning thinking about the drug. It was like being in love. It was what I needed, wanted, looked forward to.”

 

A heartrending presentation

 

Those hopes were dashed on March 22, 2021, with Roche’s announcement that it was halting dosing of tominersen because of unfavorable efficacy data.

 

“Now that pinprick of light had been blacked out,” Charlotte told the 300 researchers, biopharma executives, and advocates gathered at the conference, held in Palm Springs, CA, and sponsored by CHDI Foundation, the nonprofit virtual biotech firm dedicated to developing HD therapies. “The world ended again; it felt exactly the same as the moment of my original diagnosis.”

 

Struggling with HD symptoms and assisted by her twelve-year-old son John, Charlotte bravely delivered a heartrending presentation, reading from a computer screen. Because Charlotte’s speech is slurred, the audience was provided access to an online script. She received a standing ovation.

 

Despite the bad news of 2021, drug hunters expressed renewed optimism about potential therapies. As reported in my previous article, the ensuing three days of scientific talks focused on multiple approaches. Indeed, Roche said it would test tominersen again in an improved clinical trial.

 

Assisted by son John, Charlotte delivers her keynote address (photo by Gene Veritas, aka Kenneth P. Serbin).

 

‘Feeling your personality crumble’

 

Charlotte’s keynote traced her career as an ambitious and controversial journalist and social commentator, her family’s fight against HD, and her efforts to cope with the symptoms and resulting limitations on her work and life.

 

The speech echoed Charlotte’s book Patient 1: Forgetting and Finding Myself, published last November. CHDI gave each conference attendee a copy.

 

In Patient 1, Charlotte provides a detailed, hauntingly beautiful portrait of the challenges posed by HD to both her and her extended family. Writing with help from her brother Daniel, as yet untested for the mutation, Charlotte intimately describes the toll HD has taken on her, robbing her of her memories and producing crippling anxiety.

 

“I wanted this book to be an accurate record of what it is like to exist with HD and to feel your brain and personality crumble,” Charlotte writes.

 

It also includes the first published account of the Roche program from a patient perspective.

 

‘A new leaf of hope’

 

During her CHDI keynote, to rest, Charlotte took two short breaks.

 

In the first interlude, with Charlotte looking on, her daughter Anna, 17, took the stage to speak of the special bond she has developed with her mother because of HD.

 

“Growing up under the shadow of Huntington’s has meant I’m often not the only priority, and sacrifices need to be made to make sure that my mom is properly looked after,” said Anna, who helps care for her mother.

 

Untested, both Anna and John have a 50-50 chance of inheriting the HD mutation. HD genetic testing protocols recommend against testing before age 18.

 

“Seeing and hearing about all these people working and researching to find treatments amazes me every day and makes everything seem a little less bleak,” Anna said. “The future for me, my brother, and my mom is unknown, but we have a new leaf of hope, and for that I would like to say thank you from the bottom of my heart.”

 

In the second interlude, Charlotte’s neurologist and clinical trial physician, Ed Wild, M.D., Ph.D., described her intellectual mettle. Dr. Wild wrote the Afterword to Patient 1. At the conference, he also recalled how “injecting 120 milligrams of tominersen into Charlotte’s spine in 2019” was one of his “proudest moments” in his career of helping HD patients.

 

Watch the entire keynote presentation in the video below, which includes the option of closed captioning.

 

 

The best team for defeating HD

 

Charlotte finished the speech with a tribute to researchers and a reflection on how confronting HD has “humbled me, and helped me connect more with the people around me, which is a new skill that I’ve been working on with commitment and persistence.”

 

“GEN-PEAK may have turned out to be a blind alley, but it was still a step on the journey towards a cure, and I still feel proud to have been part of it,” she said. “I’ve lived a fairly selfish life in lots of ways, so it seems oddly fitting that this last thing I did to save myself, might end up saving others instead.”

 

Charlotte noted an irony: she could write Patient 1, with its portrayal of HD's impact, only because the disease had mentally “compromised” her.

 

“I feel like I’ve finally been able to portray my family and friends as they really are instead of as I’d like them to be,” she added. “They are coming to life.”

 

She concluded: “Anna and I cannot get over how HD is such a rare disease, yet somehow attracts so many of the world’s brightest and best scientists. In my complicated journey with empathy, this is the most striking gift I can imagine.”

Bidding farewell to my ‘mind coach,’ a major ally in in my fight to avoid Huntington’s disease

 

In December, my psychotherapist will retire, ending for me a professional relationship of 24 years that became the most personal of bonds and an emotional bulwark in my fight to delay – and prepare for – the inevitable onset of Huntington’s disease.

 

I had consulted therapists in my twenties and early thirties for non-HD-related matters. However, after my mother’s diagnosis with HD in 1995 and her inexorable physical and mental decline, I spiraled downward into clinical depression and anxiety. I needed more profound, long-term psychological support.

 

I contacted the local psychoanalytic society, which, after an intake interview, put me in touch with a psychoanalyst who best matched my needs and goals. I was fortunate that she proved to be a good fit. I recommend a proactive attitude about therapy, with a willingness to ask questions, and, if necessary, switching to another analyst or therapist.

 

For me, so began a journey of seeking greater personal and social enrichment. HD researchers and physicians have long encouraged a healthy lifestyle, although no one has found evidence to prove its effect. However, as discussed below, scientists are seeking ways to use HD-affected individuals’ sense of meaning and purpose as a possible path to alleviating symptoms.

 

My psychotherapist has certainly helped me build meaning and purpose not just in my fight against HD, but in life in general.

 

As the format of my therapy went from classic psychoanalysis (multiple sessions per week lying on a couch) to a face-to-face encounter on a weekly, bi-weekly, and then monthly basis, I have referred to my therapist in different ways.

 

“My therapist is like a personal trainer,” I wrote in 2009. “She’s my mind coach. She helps me keep my mind working at its best to meet the challenges of living at risk for HD, just as a personal trainer or coach helps a professional athlete keep his body in top shape.”

 

Gene Veritas, aka Kenneth P. Serbin (photo by Yi Sun, Ph.D.)

 

Psychoanalysis: unleashing personal growth

 

Founded by the Viennese doctor Sigmund Freud in the early 1900s, psychoanalysis became the basis for modern talk therapies, in which the patient shares inner thoughts with the analyst, or therapist.

 

Although in the United States in the latter 20th century psychoanalysis was reduced to a small branch of the burgeoning psychological profession, it remained important in parts of Latin America, including Brazil, my second home. I researched the history of the Roman Catholic Church in Brazil for my Ph.D. dissertation, published as Needs of the Heart in 2006.

 

From the 1960s to 1980s, the Brazilian Church became the world’s most progressive. In Needs of the Heart, I wrote that in this period Brazil helped give birth to the important and controversial

liberation theology, “but also to liberation psychology, whose implications for the Church were even more revolutionary than the new theology.”

 

“Liberation psychology had a dual significance,” I asserted, referring to psychology in the broad sense, including psychoanalysis and many other approaches. “It could free people not only from poverty of spirit and mind but also from the repressive structures of Catholicism.” Liberation psychology sought to release people from such beliefs as the need to repress sexuality and unquestioningly accept religious authority. This history resonated deeply with my Catholic upbringing.

 

Igor Caruso, a Viennese Russian Orthodox analyst and an inspiration for Brazil’s pioneers of liberation psychology, viewed psychoanalysis as ultimately an encounter of love “between two unique and equally valuable personalities.” As I wrote, he believed that without love, there was no cure.

 

One leading priest-analyst in Brazil described psychoanalysis as a “special grace received from God” because of the profound self-discovery and personal growth it unleashed in people.

 

Although psychoanalysis in the U.S. fell behind other areas of psychology and medicine in terms of scientific innovation, it has, with the rise of neuroscience and molecular biology, experienced a renaissance. Using brain imaging, researchers have been exploring how different types of psychotherapy, including psychoanalysis, affect brain structure. (For details, see Nobel Prize laureate and brain scientist Dr. Eric Kandel’s In Search of Memory.)

 

Also, as I experienced, psychoanalysis could be aided with psychiatric medications.

 

About a year after learning about my mother’s HD diagnosis, during a year-long research stay in Brazil, I did therapy with a local analyst for several months. She urged me to continue analysis in the U.S. after my return in mid-1997.

 

Sharing the trials and triumphs of the HD cause

 

I, too, became liberated by psychoanalysis. As is often the case, the process took years.

 

In December 1997, I met my analyst for the first time. After a few preliminary weekly conversations, I lay on my therapist’s couch four times weekly, for 45 minutes, over about five years.

 

I always paid out-of-pocket: my insurance did not cover psychoanalysis. Fortunately, the psychoanalytic society sought to help people of all income levels. In retrospect, paying privately gave me a greater sense of security about confidentiality, because (in one of those terrible ironies of the U.S. health system!) I was deliberately keeping my HD status from my health plan, for fear of discrimination and losing my health coverage, until fully going public in 2012 (click here to read more).

 

As we talked, my analyst took copious notes on my thoughts and asked questions. I spoke mainly about my fears, feelings, and past, especially with regard to my relationship to my family, in particular my mother, who was slowly dying of Huntington’s.

 

My therapist listened intently and compassionately to my many struggles with HD and, more than anyone else, came to know how my fear of the disease – along with other factors – hindered clear thinking and the ability to enjoy life. She also shared my pride and joy in the many fundraising and awareness-building triumphs I achieved with others for the local chapter of the Huntington’s Disease Society of America (HDSA).

 

My psychotherapist helped me cope with the impact of my positive test for the HD mutation in 1999, my daughter’s negative test in the womb in 2000, and my mother’s death from HD in 2006.

 

Descending into the bedrock

 

By early 2003, we had reached a point in the analysis where I needed – and wanted ­– to descend into what I called the “bedrock,” the deepest, most difficult feelings, fears, and memories, which are the hardest to access and confront. Rooted in childhood and adolescence, they long preceded my family’s struggles with HD. However, I seemed incapable of entering the bedrock. Part of my mind resisted both my therapist, and myself, preventing me from being completely honest with myself and gaining more self-understanding.

 

My therapist gently pushed me to consider psychiatric medication to overcome that resistance.

 

Holding a Ph.D., but not an M.D., my therapist could not prescribe medicines, leading me to work with psychiatrists at my health plan.

 

That process proved difficult and frustrating; rather than specify my true concerns to these doctors, who knew nothing of my HD status, I had to speak in generalities.

 

Finding a winning combination

 

In addition, finding the right medication and the right dosage required years of trial and error. My first attempt, with Zoloft (sertraline), nearly proved disastrous: while driving my wife and daughter, I blanked out and ran the car onto the curb. Luckily, no one was injured. I immediately quit the medication.

 

Next, Prozac (fluoxetine) left me disoriented and extremely drowsy, so I was switched to Zyprexa (olanzapine). My mother was also taking this drug for her HD symptoms as an alternative to Haldol. Haldol was one of the standard prescriptions for HD but, we heard from the HD community, not recommended in many cases.

 

With worsening clinical depression and especially anxiety after my mother’s death in 2006, and working with a highly sympathetic psychiatrist (but who still did not know my risk for HD), I found a winning combination of escitalopram and risperidone for the respective conditions.

 

Since the late 1990s, I had also taken trazodone for sleep but quit in 2016 because I had improved on that front considerably. I have also wanted to avoid overloading my system with medications.

 

In contrast with Zoloft and Prozac, escitalopram and risperidone apparently did not cause any unpleasant side effects, although, according to my doctors, I have taken these last two drugs at very low doses. A general caution I heard from doctors: certain antidepressants can negatively impact sexual function.

 

Taking these medications was a huge step, because growing up I learned that psychological counseling and especially anything psychiatric were taboo and seen as shameful by many in my extended family.

 

Fear of HD diminished dramatically

 

In my late 40s, this successful treatment of escitalopram and risperidone relieved me of depression and greatly reduced my anxiety. In tandem with my therapy, these drugs finally helped me psychologically to feel as well as I ever had in my adult life. I have now taken them at the same dosage for more than a decade, and will do so for the foreseeable future.

 

Entering the bedrock, I continued to gain new insights with my therapist. The fear of unconditionally trusting her disappeared. I was able to comprehend my psyche. I became more perceptive and more self-aware – and also more accepting of others and more loving towards my family.

 

My fear of HD diminished dramatically – even though I knew that each day brought me closer to the likely onset.

 

I have the normal ups and downs we all have, but the medications continue to help keep me stable.

 

The benefits of stability

 

In 2011, my therapist helped me prepare for, and then marveled at, a major achievement in my HD advocacy, the first major step outside the “terrible and lonely HD closet”: my keynote speech at the Sixth Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc., the nonprofit virtual biotech firm that is the largest private funder of efforts to develop treatments.

 

My therapist provided support for another milestone, and the beginning of the fully public phase of my advocacy: the publication of my article “Racing Against the Genetic Clock” in The Chronicle of Higher Education in 2012.

 

Psychological stability enabled me to work ever more effectively as an advocate and to concentrate on activities such as exercise that have bolstered my health. By then, I had also come off the couch, and our meetings became less frequent.

 

My therapist also became a regular reader of this blog. In some sessions, we have discussed concerns I have expressed in articles. On other occasions, therapy has helped suggest blog topics.

 

My therapist has been a true friend and partner in the fight against HD!

 

A broad strategy for avoiding symptoms

 

In recent years, as I have proceeded into my sixties, I have reflected on how I have so far avoided HD symptoms. On September 17, during my annual neurological checkup, the doctor found no signs of HD. My mother became symptomatic in her late forties and died at age 68. (Click here to read more.)

 

Psychotherapy forms part of a broad range of interrelated strategies for keeping healthy, including physical and mental exercise, blogging on HD, and taking supplements, some of which were ultimately proved ineffective. I also eat a healthy diet, and I meditate and practice spirituality. I have the benefit of a stable, solid-paying job and a close relationship with my wife and daughter.

 

As psychotherapy has helped enrich my life, it has also given me a greater overall sense of meaning and purpose.

 

Researchers are carefully studying these factors as a way to alleviate symptoms.

 

Meaning and purpose are key

 

In July, a team of twelve researchers published “Meaning and purpose in Huntington’s disease: a longitudinal study of its impact on quality of life,” in Annals of Clinical and Translational Neurology, a journal of the American Neurological Association.

 

The researchers studied 322 HD-affected individuals: 50 just starting to experience symptoms, 171 with early-stage disease, and 101 with late-stage disease. The participants did both an in-person assessment and an online survey. Data were collected between 2012 and 2016.

 

The results of the study demonstrated that “higher” meaning and purpose were “positively associated” with “positive affect [mood] and well-being,” the researchers stated.

 

Meaning and purpose also were associated with “decreased depression, anxiety, anger, emotional/behavioral disruptions, and cognitive decline at 12 and 24 months across all disease stages,” they wrote.

 

More research needed

 

The article pointed out the study’s limitations: correlation does not necessarily mean causation.

 

Thus, the researchers recognized the need to verify their findings with “additional instrumentation” to measure the connection between meaning and purpose and the patient-reported data. The study also did not account for possible bias from people on “psychoactive medications.”

 

Nevertheless, the researchers described the study as a “compelling first step” toward understanding the primary mechanism behind meaning and purpose – and how they might improve quality of life in HD-affected individuals.

 

Finding ways to help patients

 

The researchers concluded that their findings “parallel” those seen in those affected by cancer and might help point the way to “palliative HD interventions,” approaches that might relieve symptoms without removing the root cause.

 

They also pointed to the value of psychotherapy. They cited articles from studies of cancer patients and other conditions focusing on psychotherapy and other palliative measures such as spirituality.

 

Critically, a sense of meaning and purpose “may serve as a resiliency factor for suicide in people with the HD gene in that it can impact factors associated with suicidal ideation (e.g., depression, anxiety) as well as suicidal behaviors (e.g., impulsivity and anger).”

 

As the article pointed out, and as is well-known in the HD community, “suicide is a leading cause of death.”

 

Nostalgia, and looking ahead

 

As I read the journal article, I recalled my own fantasies about suicide in the first few years after my mother’s diagnosis and as I worried whether I had inherited the mutation.

 

The birth of our daughter in 2000 gave me immense meaning and purpose. I stopped thinking about suicide as a way to escape HD. My fight against HD became not only advocacy for the cure, but a personal quest to maintain stable health so that I could see my daughter grow up.

 

My mind coach has been an invaluable companion in this journey.

 

As we have our final sessions, I will become deeply sad. It feels like a lifelong friend moving to another city, with little chance of a visit.

 

My therapist and I have discussed the pain of separation. As usual, she will be helping me to remain stable and find a good path forward.

 

With nostalgia, we have also discussed the tremendous progress I have made, including the highlights of my HD advocacy.

 

In July, I began meeting occasionally with another therapist, so that I have psychological support beyond my mind coach’s retirement.

 

I am looking forward to discovering another ally in the fight against Huntington’s.

Making the threat of Huntington’s disease ‘small stuff’

To reduce anxiety about the threat of Huntington’s disease, I start each day with a deep breathing exercise and meditation.

I started developing this practice in late 1997, two years after learning of my mother’s diagnosis for HD and the devastating fact that I had a 50-50 chance of inheriting the mutated gene. After many months struggling with worry and denial, I had hit rock bottom emotionally. (I eventually tested positive for the HD mutation.)

Browsing at titles in a bookstore – bookstores mattered a lot more before the e-book explosion – I came across Don’t Sweat the Small Stuff… and it’s all small stuff: Simple Ways to Keep the Little Things from Taking Over Your Life, a bestseller by the late Richard Carlson, Ph.D.

Over the next few months, I studied the book’s 100 brief chapters, each prescribing how to achieve calm in our harried world. Some might consider self-help books shallow, but I found this one to have a core of wisdom.

Chapter 1, “Don’t Sweat the Small Stuff,” lays out Dr. Carlson’s basic philosophy, a combination of Judeo-Christian fraternal love with a Buddhist de-emphasis of the desire for material success.

“Often we allow ourselves to get all worked up about things that, upon closer examination, aren’t really that big a deal,” Dr. Carlson wrote. “We focus on little problems and blow them way out of proportion…. So many people spend so much of their life energy ‘sweating the small stuff’ that they completely lose touch with the magic and beauty of life. When you commit to working toward this goal you will find that you will have far more energy to be kinder and gentler.”

Getting calm with deep inhalation

Chapter 63, “Count to Ten,” was pivotal for me.

“When you feel yourself getting angry, take a long, deep inhalation, and as you do so, say the number one to yourself,” Dr. Carlson suggested. “Then, relax your entire body as you breathe out. Repeat the same process with the number two, all the way through at least ten (if you’re really angry, continue to twenty-five).”

The deep breathing “clears your mind with a mini version of a meditation exercise,” he explained. It increases the oxygen in your lungs, reduces anger, and provides perspective, making “big stuff” look like “little stuff.”

With time I settled on 20 deep breaths for every morning, followed by a few minutes of quiet relaxation. I usually sit in a lotus position on a carpet or on the edge of a chair or couch with my back arched forward to get the air as deeply into my lungs as possible.

When family or work obligations occasionally make it impossible to meditate at home, I do my breathing while driving or in airports.

When I don’t meditate, my day almost always becomes more stressful, sometimes even sad.

The breathing provides a powerfully calming effect. I feel that I’m doing something good for my brain by increasing the oxygen. By reducing my overall stress level, I hope, I can help delay the onset of HD symptoms.

In the video below, you can watch the demonstration of the technique I gave at the start of my keynote speech at the 2011 HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., in Palm Springs, CA. Other members of the HD community as well as caregivers and counselors engage in or recommend similar exercises, and a vast bibliography exists on yoga and meditation techniques. The principles here can apply for everybody in any aspect of life.

Coping with Risk for Huntington's Disease by Meditating from Gene Veritas on Vimeo.

Increased anxiety, new insights

The past couple years I have included in my meditation a reading from Living Faith: Daily Catholic Devotions. Resonating with many of Dr. Carlson’s points, Living Faith helps me tap my spiritual dimension, longstanding since my childhood in the Catholic church, and contemplate the mysteries of suffering and the Creator’s love.

Over the past couple years, now well beyond the age at which my mother’s symptoms started, I’ve become more anxious about HD as well as things in general. So, early this year, I decided to add a daily reading from Don’t Sweat the Small Stuff to my morning meditation.

A couple weeks ago, I finished.

Rereading Don’t Sweat the Small Stuff brought back warm memories of how I had overcome difficult moments, including depression, in those early years after my mother’s diagnosis – including my own positive test for the HD mutation in 1999.

It also revealed how I’ve usually dealt successfully with the ongoing challenges of living at risk. Rereading the book reinforced the lessons I had learned. It also provided me with new insights.

Some of my favorites are: Chapter 6, “Remind Yourself that When You Die, Your ‘In Basket’ Won’t Be Empty”; Chapter 16, “Ask Yourself the Question, ‘Will This Matter a Year from Now?”; and Chapter 66, “Think of What You Have Instead of What You Want.”

Problems as teachers

Two chapters in particular have helped me reflect on HD: Chapter 17, “Surrender to the Fact that Life Isn’t Fair,” and Chapter 75, “Think of Your Problems as Potential Teachers.”

“One of the nice things about surrendering to the fact the life isn’t fair is that it keeps us from feeling sorry for ourselves by encouraging us to do the very best we can with what we have,” Dr. Carlson wrote. “We know it’s not ‘life’s job’ to make everything perfect, it’s our own challenge.”

Regarding problems, he wrote: “Rather than push away the problem and resist it, try to embrace it. Mentally, hold the problem near to your heart. Ask yourself what valuable lesson(s) this problem might be able to teach you.”

Humility, acceptance, and hope for treatments

This is solid advice. However, isn’t a deadly genetic brain disorder like HD truly “big stuff” that just can’t be meditated away?

I’ve thought a lot about this question as I reread Don’t Sweat the Small Stuff and corresponded with HD-affected friends. They are struggling with the loss of their mental and physical abilities; they can no longer work or drive and need help from others for the simple tasks of daily living.

Recently I also attended the wake for an old friend who died in his early 60s of pancreatic cancer, a mainly incurable condition. I didn’t know he was ill, so his death came as a shock.

I imagine my own HD symptoms, watching myself quietly fade away, losing the ability to write, teach, and engage with my family as we guide our daughter through high school and start thinking of retirement.

That is big stuff!

However, I try to make it as small as possible. When I’m not resorting to my old friend denial – which becomes harder as I approach the inevitable onset – I reflect on two of the key lessons taught by Dr. Carlson and the authors of Living Faith: the need for humility and acceptance.

I will die. As I witnessed with my mother, HD is a horrible way to go.

However, until onset I will adhere to Dr. Carlson’s Chapter 100: “Live This Day as if It Were Your Last. It Might Be!” 

As both Dr. Carlson and Living Faith's authors would agree, living life in that manner includes making the world a better place and engaging with family, friends, and many others. I may die of HD, but the collective work of advocates like me, together with the scientific community and friends and supporters, may help make HD "little stuff" in the future by furnishing effective treatments.

Going with the flow of time

Like many in our fast-paced era, early in life I developed an acute sense of time. Patience with others, with life, and with myself was not one of my virtues.

After learning in 1995 that my mother had Huntington’s disease and that I had a 50-50 chance of inheriting the devastating mutation, my anxiety about the passage of time multiplied.

On one level, I definitely came to appreciate the preciousness of time – especially after testing positive for HD in 1999 and seeing my mother succumb to the disease in 2006 at the age of 68.

On another level, however, worries about time have continued to gnaw at my mind. I strive to enjoy life, providing for and spending time with my family, but also to create a legacy as a scholar, writer, HD advocate, and citizen. As I once wrote, “I’m squeezing as much as I can into my life before the symptoms start.”

‘Tricking’ time

For a long time I’ve believed that I can somehow trick time, getting more than 24 hours out of a day.

Not long after I had learned of my mother’s HD, one of my students asked me why I walked so quickly around the campus. “I have so much to do!” I replied while pondering my professional ambition and worrying about my vulnerability to the disease.

I frequently recall a radio segment about a former federal cabinet official whose ambition led him to obsess about reducing to the absolute minimum the time spent on each detail in getting ready in the morning.

Identifying with that attitude, I find it simultaneously fascinating and tragic.

Though I know that going to bed at a regular time contributes to good neurological health, I often stay up late, thinking that if I just squeeze in a bit more work or one more TV show, I’ll somehow have gotten more time out of the day.

So much of my life is tied to the mystery of time, including a self-esteem reliant on a sense of accomplishment and recognition. If it weren’t for this damned time, I could do so much more!

Defeating time is the avenue to feeling powerful, and toward the goal of defeating Huntington’s disease.

Ultimately, to defeat time is to defeat death itself. This desire is a not uncommon phenomenon as people age, but the specter of HD makes it unavoidable.

Counteracting anxiety

To counteract the anxiety about time and HD, I have employed some key strategies. I work with a psychotherapist, take medications to stave off anxiety and depression, and subscribe to the philosophy of Don’t Sweat the Small Stuff … and it’s all small stuff. I also try to exercise, live in the moment, and to connect with my spiritual dimension, for example, by attending Mass.

When brushing my teeth seems to take forever because I’m anxious about getting to a seemingly more important upcoming activity, I try to remember the advice of the Vietnamese Buddhist monk Thich Nhat Hanh to savor the simplest of experiences as part of the process of life.

I’ve also sought wisdom about time from the scientific minds of our era.

However, after reading biographies of Stephen Hawking and Albert Einstein, I’ve understood clearly how we are in the infancy of defining and comprehending the dimension called time.

We can’t even perceive time with our five senses – except for the fact that our bodies age and diseases like HD take their inevitable toll.

A terrible delusion

Last month, in a conversation with my psychotherapist, I came to the healthy realization about how I have deluded myself about tricking time.

A few weeks later, I departed with my family for a three-week trip in Europe.

Once again, vacation time provided me with a small but stimulating break from the routine of work and the challenges of living at risk for HD.

Amidst the excitement of visits to cities like Berlin, Prague, and Vienna, I maintained my daily morning meditation.

As we whisked through Europe, the mystery of time once again loomed.

I wanted to stop time so that the great moments with my family would never end.

Kenneth Serbin (left) with daughter Bianca and wife Regina on the Charles Bridge in Prague (family photo)

A revelation

However, during one moment of meditation, I had a mini-revelation about time.

I told myself: “You cannot trick time. You must be with time and part of time. You cannot go against time. You must accept it. You must flow with it.”

In the days since, I have felt a renewed sense of peace.

I don’t believe outcomes are preordained, but I do feel that I must no longer resist the flow of time.

I cannot extend my time. I must live with the amount I have as best I can.

I must approach life, including the threat of Huntington’s disease, with acceptance, even as I strive daily to make a difference.

Although scientists are working feverishly on potential clinical trials, treatments may not appear in time to save me.

I can help, I can hope, and I can wish progress for everyone in the HD community. But I cannot stop time to wait.

The return of the Huntington’s whirlwind

In my quest to avoid the symptoms of Huntington’s disease and aid the search for treatments and a cure, I frequently struggle to cope with powerful feelings.

As I’ve written before, I constantly aim to keep a balance in my life between “striving” for the HD cause and “chilling” by enjoying the simple pleasures of life.

However, both the fear of symptoms – I tested positive for the HD gene in 1999 and at 53 have now passed my mother’s age of onset – and the excitement about the real hope for treatments sometimes provoke a whirlwind of emotions.

After a ten-week hiatus from this blog and most of my HD advocacy last summer, I took my advocacy to new heights starting in the fall. Since then, I’ve fought to keep a steady course as I’ve confronted both depressing and exhilarating feelings.

Recently, however, the sensation of being caught in a whirlwind has returned.

People keep dying

The people I meet through my advocacy regularly remind me of the terrible suffering inflicted by HD.

To be an HD advocate requires compassion – but also the ability to absorb great pain.

In preparing my recent article on HD and adoption, I interviewed two of my “HD sisters,” women in their mid-40s with about the same degree of genetic mutation as mine. I was startled to hear them describe how the onset of cognitive impairment has severely restricted their lives. I could not help but wonder how my own life as a college professor, HD advocate, husband, and father will be affected when my own inevitable symptoms start.

For my article on two HD activists, I delved into the wrenching story of Karli Mukka, a 13-year-old who died of juvenile HD. To see children who should be flourishing cruelly cut down by HD sends a spike into my heart.

“Oh, not another one!” I exclaim to myself when I read on Facebook about the death of yet another juvenile HD victim.

Seeing these fighters in our community go down makes me vow to redouble my efforts.

Such sadness seems unending. People keep dying of this horrible disease – with no treatments whatsoever to help them.

On February 13, along with the photo below, I posted the following about my own sadness on HD Facebook memorial and prayer pages:

Today marks the 7th anniversary of my mother Carol Serbin's death from HD. My father Paul, her "HD warrior caregiver," died three and a half years later. I miss them both terribly. I tested positive for HD in 1999. Our daughter tested negative in the womb. I had hoped treatments would come in time for my mother, but, sadly, they didn't. I continue as an HD advocate fighting to avoid onset and for the discovery of effective treatments.

A tribute and a Valentine’s gift

Solidarity has soothed the emotional pain.

The loving comments on my parents’ photo from HD friends and acquaintances brought great comfort. Wrote one woman:

Look at the smile on your Mom. I have noticed that no matter how sick these people are, they manage to still smile. My daughter is one of them. Such brave people. Sending Hugs your way Gene, all the way from Canada.

I could not have imagined a more lovely tribute to my mom and dad than the artistic reinterpretation of my parents’ photograph posted on the HD prayer page by Rebecca Rose, who lost an adult daughter to HD in 2009 and a 9-year-old granddaughter in January 2012.

On February 14, Valentine’s Day, I received a wonderful gift from sports talk show host Chick Ludwig, a friend of some 35 years, who interviewed me during a segment about HD on his program on WONE radio in my home state of Ohio.

The joy and excitement of reconnecting with Chick in such a special way and sharing my story with a live radio audience left me overwhelmed.

Looking to the World Congress

Solidarity has also helped recharge my advocacy batteries

In response to the Portuguese version of my definitive coming-out article in the mainstream media, Paulo Vannuchi, a survivor of brutal torture during the Brazilian military dictatorship (1964-1985) and the country’s minister of human rights from 2005-2010, wrote me a long and moving personal e-mail, pledging to support the cause in any way possible.

I was thrilled that a man with great political influence and a record of defending the disabled could help the HD cause in Brazil, my wife’s homeland and my “second home” after nearly three decades of studying its history and people.

The world’s fifth most populous country with nearly 200 million people, Brazil has an estimated 13,000-19,000 HD patients and 65,000-95,000 at risk of carrying the gene, making it a key player in the effort to globalize the search for treatments through the so-called Enroll-HD program.

Indeed, Rio de Janeiro, Brazil’s second largest city, will host the 2013 World Congress on Huntington’s Disease from September 15-18. I will speak in at the congress on the topic of coping with the knowledge of living with the mutant gene.

Paulo and I have begun to brainstorm how to raise the profile of the congress and awareness about the disease in Brazil, where the community is even more closeted than in the U.S. and whose Huntington’s association has only minimal resources. (I will explore the reality of HD in Brazil in a future article.)

After 25 straight years of living in or visiting Brazil, I declined to travel there in 2011 and 2012. I’ll spend a good part of this year planning a very special return: to attend the congress, my first ever HD event outside the U.S., alongside other HD people in the land I love as much as my own. I'm very happy that I'm finally able to meld the professional and personal sides of my life with my advocacy.

However, planning for the trip could also cause anxiety. As a Brazil specialist, I feel an immense responsibility to help make the congress a success.

Managing feelings

As I once again negotiate the twists and turns of the HD whirlwind, I’ve worked extra hard to take care of myself emotionally.

Like a lot of guys, I’m often in denial when it comes to managing feelings.

I wrote in my blog notes:

You men out there: do you take care of your feelings? Do you take care of yourself? Are you always trying to be the hero? The problem-solver? Are you listening to what your spouse says about HD, taking into consideration her feelings?

Luckily, throughout most of my journey with HD I have had the support of a (female) psychotherapist, my “mind coach.” I also take medication for depression and anxiety.

Joining an HD support group just one month after learning of my mother’s diagnosis of HD in late 1995 was one of the most important things I’ve ever done.

Likewise, seeking psychological assistance has helped me deal with the numerous ups and downs of living at risk for Huntington’s disease.

Keeping calm in a whirlwind is not easy. However, with friends, love, and support, we can keep forging ahead.