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.

Striving for brave new brains

As I turned 52 on December 31 and a new year dawned on the world, I came ever closer to onset of Huntington’s disease, the cruel killer that took my mother’s life in 2006 at the age of just 68.

However, in 2012 I also will live with the hope that, as science and medicine progress with time, researchers will control and perhaps even eradicate HD.

Indeed, we stand on the verge of a new age. Neuroscience, brain scans, our understanding of genetics, and brain-machine interfaces will vastly improve the health and capabilities of the brain and perhaps enable the cure of HD, Alzheimer’s, Parkinson’s, Lou Gehrig’s, stroke, and numerous other maladies of the central nervous system.

On Christmas and my birthday I was able to celebrate the results of my annual check-up at the local HD clinic on December 20: the doctor marveled at how, despite carrying the same genetic defect as my mother, I have yet to show any apparent external symptoms of the disease (click here and here to read about my HD-avoidance strategies).

With the predicted biotechnological advances, those of us who are gene-positive may someday put bionic brains on our birthday wish lists – brains without risk of HD and that enhance mental capabilities far beyond anything we can currently imagine. Even sooner, advances in medicine may deliver drugs and techniques that counteract the cruel changes wrought in HD brains.

Breathtaking predictions

I contemplated these possibilities during my holiday reading, which included Judith Horstman’s The Scientific American Brave New Brain: How Neuroscience, Brain-Machine Interfaces, Psychopharmacology, Epigenetics, the Internet, and Our Own Minds Are Stimulating and Enhancing the Future of Mental Power, an exciting, easy-to-read synopsis of recent advances in brain science.

Horstman outlines how brain scientists predict breathtaking breakthroughs by mid-century – most with a firm foot in current reality.

According to scientific forecasters, “computer chips or mini-processors in the brain will expand memory; control symptoms of brain disease, from Parkinson’s disease to depression and anxiety; and wirelessly receive and transmit information so that you won’t need a cell phone or a computer to stay in touch.”

“Brain surgery will be a thing of the past except in the most severe cases,” Horstman continues. “Advanced neuroimaging will identify mental illness and brain disease before symptoms show and in general be used to ‘read’ minds and predict and control behavior. Microscopic robots – nanobots – will enter your bloodstream to diagnose and repair brain damage. Protein molecules will travel your brain in a similar way to turn on or off brain cells or genes responsible for brain diseases.”

Brave New Brain explores numerous other current and potential facets of brain health and related technologies, including:

● neurogenesis (the growth of new brain cells);

● deep brain stimulation and “brain pacemakers” (using electricity to stimulate brain health and performance);

● brain-nurturing mental and physical practices such as meditation, breathing, and yoga;

● the impact of digital technology on the brain and its integration into the brain;

● artificial intelligence;

● miniature cameras for broadcasting images of the inner workings of the brain;

● thought-activated neural implants (for example, for working mechanical limbs);

● prostheses of portions of the brain (people are already living with artificial retinas and cochleas, the auditory portion of the inner ear);

● and, in one forecaster’s view, the downloading of our brains onto chips “so our consciousness can live on forever, perhaps even downloaded into robots – or into an avatar, an ageless biological clone,” perhaps making us an endangered species increasingly replaced by cyborgs.

“Neuroethicists” and others worry that “humans will become machines,” Horstman observes. These individuals also point out new issues involving privacy in genetic testing; ownership of body parts, tissues, and genes; insurance discrimination; potential abuse of new technologies by employers and others; and the impact of all of these changes on social equality and our way of controlling criminals. Neuroethicists are grappling with these many issues.

Curing dementia

According to Horstman, Alzheimer’s, other dementias, and perhaps even mental retardation will be “preventable, curable, and even reversible in many people.”

The demand for cures is immense: some two billion people worldwide suffer from a brain-related illness, with an annual economic cost of more than $2 trillion, Horstman writes. Almost half of all people over age 85 develop dementia, and by 2050 an estimated 100 million individuals will experience this condition.

Offering a glimpse of how these cures could take place, Horstman writes of “brain boggling” nanotechnologies such as “preparing specialized protein molecules that swim to a predetermined site and are activated externally by probes or lasers that turn off or on specific genes.”

This kind of “nanomedicine” would allow medical treatments to leap across the formidable blood-brain barrier, which separates the bloodstream from the fluid that bathes and cushions our brains, Horstman explains.

Alnylam’s HD gene-silencing trial

The trends in neuroscience and related fields mean that scientists someday will likely control HD and perhaps, as Horstman describes, completely turn off the gene that causes it.

Key research in “gene silencing” already holds great promise.

In partnership with Medtronic, in 2012 Alnylam Pharmaceuticals plans to apply to the federal Food and Drug Administration (FDA) to conduct a Phase I clinical trial of a drug containing ALN-HTT, a small interfering RNA molecule (siRNA) that doctors will inject into the brains of trial participants.

Conducting a brain operation, doctors will run thin tubing under the skin from a Medtronic-designed pump to a nodule at the top of the patients’ heads, and from that point a very fine needle will deliver the drug into the putamen, one of the regions of the brain most devastated by HD (click here to read more).

If the Phase I trial demonstrates the safety of ALN-HTT, Alynlam will proceed to Phase II to measure the efficacy of the drug.

Alnylam intends to use ALN-HTT to silence the huntingtin gene so that less huntingtin protein is produced to harm brain cells. If successful, the treatment would save brain cells from dying and slow down and possibly even reverse the course of HD.

A decade ago, this approach seemed like science fiction. Today, it provides immense hope that HD will be controlled in our lifetimes.

On December 28, 2011, Alnylam presented a highly positive report: testing of ALN-HTT in non-human primates demonstrated “widespread distribution of the siRNA and significant silencing of the huntingtin mRNA.” The drug was well tolerated.

Conducted in collaboration with Medtronic and a research team at the University of Kentucky, the study will greatly facilitate the FDA application for a human trial.

Isis Pharmaceuticals, Inc. is developing a similar approach for treating HD and hopes to apply for its own Phase I clinical trial, perhaps within the next year or two (click here to read more).

The pioneering HD community

As Horstman describes, such gene silencing techniques only scratch the surface of the great potential in brain-disease treatments. Indeed, we may someday look back on these initial attempts as primitive.

But they are revolutionary. We in the HD community are helping to pioneer this revolution in brain science by participating in research studies and clinical trials, fighting the terrible stigma associated with the disease, and, as I did last February, exiting the terrible “HD closet” to tell the world about the need to defeat HD and other neurological disorders.

HD families no longer stand alone. Our movement has gone global – with international conferences run by research organizations, numerous HD-related websites, and the establishment of Enroll-HD, a multi-country database of HD-affected, gene-positive, and untested at-risk individuals. Just last month a new HD group formed in China, the world’s most populous country.

We stand on the frontier of science, and for this reason in 2012 and beyond we can forge ahead proudly and bravely.

It’s up to us to lead the way. If we all unite and participate in this great movement, we can help build toward the bionic brains of the future.