Great reasons to be a guinea pig

Huntington’s disease is a 100-percent genetic condition, so, because I tested positive for this brain disorder, I have no control over its cause. I will develop symptoms. After receiving my test results ten years ago, I could have gone into a cocoon or committed suicide or lived in reckless abandon. Instead, I decided to control what I could.

I became active in all senses of the word: watching my health, raising awareness about HD, participating in the local support group, and, as an activist for the Huntington’s Disease Society of America (HDSA), doing my small part in the effort to find treatments and a cure.

I have also taken part in numerous experiments designed to bring scientists a clearer understanding of the disease. I basically have become a guinea pig in procedures that are often repetitive, tiring, and sometimes downright boring.

They can also be very intimidating, because they force me to focus on my medical situation when I’d rather be doing something else.

But these experiments are vitally important for preparing the way for effective clinical trials. To see if a potential treatment is working, researchers must have a baseline of information about HD symptoms, including the practically imperceptible early signs of the disease in gene-positive individuals like me.

In fact, because of a shortage of test subjects, Huntington’s clinicians have been sounding the alarm for the need for more at-risk and affected individuals to join the experiments and also current and upcoming clinical trials for potential drugs.

Dr. Martha Nance, the director of the HDSA Center of Excellence in Minneapolis, has noted in a recent article that the lack of willing research subjects will “delay the development of new treatments for HD.” Similarly, Dr. LaVonne Goodman, the founder and director of the Huntington’s Disease Drug Works program (HDDW), has written that clinical trials “will accomplish little if we don’t take the next steps to maximize participation” (click here to read Dr. Goodman's article).

Many experiments, much information

I began the experiments after learning in 1995 that my mother had Huntington’s. I gave blood to be screened for the genetic defect. At that time I took the first in a series of occasional batteries of neuropsychological tests, which involve memorizing words, comparing objects drawn on paper, distinguishing the names of colors from actual colors, and other kinds of mental exercises. I have also lain for hours in functional MRI machines that took images of my brain as I slept or as I played a kind of video game with my fingers.

Scientists have even established that gene-positive individuals will suffer changes in their sense of smell. Accordingly, I took part in an experiment where I spent a long time sampling and identifying different smells of small amounts of substances presented to me in tiny cups.

I have also responded to questionnaires for the National Research Roster for Huntington’s Disease Patients and Families, a three-decade-old study of HD families headquartered at the University of Indiana.

And I am a participant in HDDW. I take HDDW supplements every day (the sugar trehalose, coenzyme Q-10, Omega-3 fish oil pills, blueberry concentrate, and creatine) in the hopes of staving off symptoms. I am required to do a periodic battery of tests on my home computer, such as tapping keys and performing mental exercises similar to the neuropsychological tests described above. In effect, I’ve been participating in a clinical trial of a kind of HD cocktail.

Testing my balance

The importance of the experiments and the stresses involved weighed upon my mind on July 13 as I took part in yet another experimental session, this one at San Diego State University.

The experiment focused on my motor control – the ability to move in a coordinated manner and to maintain stability. I had participated in the first phase of this experiment a year ago, and this latest session aimed to see if there was any change in my situation. Like most of the other experiments, it was designed to see if I am showing any symptoms of the disease so early and so slight that only a machine or a computer can detect.

First, I had to listen to about 60 beeps on a speaker and tap one of my fingers on a sensor in synch with each beep. A computer recorded my reactions for the research assistant in charge of the experiment.

I knew the experiment would probably include a test of this kind, so I prepared carefully in the morning. I didn’t want to do my daily stretch but did anyway in order to be as limber as possible, thus allowing me to have good posture and maximum dexterity.

I sat before the two sensors – one for the right hand, the other for the left – like a sprinter the moment before the starting gun is fired in the 100-yard dash. At first I made mistakes and did not keep up the tapping after the beeps had stopped, as the instructions had required. By the end I was trying to anticipate the first beep in order to make my first tap at the same time.



Outsmarting Huntington’s

As in other experiments, I needed to prove to myself that I had no symptoms. I strived to match the machine’s impulses as closely as possible. And, I thought, if I do have symptoms, I wanted my brain to compensate for them with the total concentration and energy I was devoting to the experiment.

Like the man who uses his intelligence to control his schizophrenia in the film A Beautiful Mind, I want to believe that I can outsmart these machines and ultimately Huntington’s disease itself.

In the next room I stood on the platform of a device used to measure balance. The SMART Balance Master, made by NeuroCom International, Inc., consisted of foot plates and surrounding scenery that both moved. The research assistant strapped me into a safety harness that would catch me in case I fell. In various tests, with my eyes opened and closed, I had to maintain my balance as the computer recorded reactions through foot sensors.

A research assistant demonstrates use of the balancing device.

I kept my balance with little effort and without the need of the harness. But I thought of how terrifying an experience such a machine would present to a Huntingon’s disease patient such as my mother, who died of the disease in 2006. In the last few years of her life she fell a number of times, once breaking a wrist, another time suffering a large gash on her head that required several staples. She would have found it practically impossible to remain standing in this machine, even though the movements are quite manageable for the normal person, akin to jerking motions on an escalator.

I did not ask the research assistant if he had detected any subtle symptoms of HD in my tests. I was not interested in such information, preferring instead to think that I had easily passed.

I need to continue thinking of myself as an asymptomatic at-risk individual. To learn that symptoms had started might prove too devastating to me at this time.

A sense of accomplishment

I ended the experiments with a sense of relief. I had once again stared down Huntington’s disease and, at least as far as I can tell, came away the victor.

As I look back on the day and the many other experiments in which I have participated, I have a deep feeling of satisfaction at having contributed to the gathering of knowledge about the disease.

The discomfort of having to think about HD and my mother’s demise is an extremely small price to pay for helping prepare for the day when treatments could help me and thousands of other at-risk individuals avoid early symptoms.

By participating in experiments, I’ll also be keeping myself properly informed about treatments as they become ready.

Everybody can help

Testing centers urgently need more subjects to take part in their experiments and clinical trials. Everybody can help: patients, at-risk individuals, relatives, and friends. Even if you and your family are not affected by HD, you can encourage affected families to participate and help ease the burden by driving them to the testing centers or assisting in other ways. Please contact HDSA or your HDSA chapter or Center of Excellence to learn more.

Those of us touched by HD cannot change our genetic reality, but together we can help build the mass of knowledge that will help scientists select the right treatments and fine-tune them so that people of all levels of risk and disease can benefit.

A life-or-death walk into the future

On June 15, 2009, I walked again into the epicenter of what could be the first treatment for Huntington’s disease: the Isis Pharmaceuticals, Inc. research facility in Carlsbad, California.

It was like a walk into the future. I am gene-positive for Huntington’s, and Isis is seeking to make a drug that could save me from one of humanity’s cruelest diseases. My mother, who passed on the defective gene to me, died of the disease in February 2006 at 68, after struggling with the disease for about twenty years. (Click here to read about how I said good-bye to her.) This year I turn 50, the age at which she was already showing symptoms.

Will I someday take the Isis drug for HD? Or will I be doomed to end up unable to speak and in a wheelchair?

Those were some of my thoughts as I followed up my April 2008 visit, when I learned how Isis was aiming to create a “laser-guided missile” to attack Huntington’s. (Please click here to read my entry on that visit.)

Cautious optimism

I heard great news: the project is on schedule, and both Isis and the sponsor of the research, the CHDI Foundation, Inc., are optimistic that they will find a drug molecule by the end of this year. Human testing would begin in 2011.

Last year I brimmed with enthusiasm about Isis, but the project was only in its early stages. My optimism was justified: this year I sensed great confidence at Isis. (Please click here to see my detailed update on the project.)

However, I am also tempering my optimism with the knowledge that pharmaceutical research – even in the case of a brilliant, cutting-edge company such as Isis – is always a long-shot. Only one in ten drugs that enter human trials will ever make it to market.

Effective research requires time – a commodity in short supply for those of us racing against the clock. As Dr. Frank Bennett, the Isis senior vice president for research, pointed out, even if everything goes perfectly, it would still take at least ten years for the drug to be fine-tuned for use as a preventive measure in asymptomatic, gene-positive individuals like me.

Fighting for the cause

But I am not disheartened. On the contrary, I feel the same confidence as Dr. Bennett and the other people I spoke with at Isis such as Dr. Alejandro Lloret, who is fighting passionately to find the treatment. (Please click here to read my article about Dr. Lloret.)

I know that I too must fight – to raise awareness about Huntington’s disease and to help bring more support for our cause. Isis is deepening its commitment to research on other neurological diseases. With its unique technology it could start a revolution in the pharmaceutical industry. We HD activists need to educate the public about the potential benefits of Huntington’s research for all of humanity.

Above all, I’ve got to stay healthy until the possible Isis treatment for at-risk people comes online. No gene-positive person can know the exact moment symptoms will start. All we can do is take care of ourselves and keep hoping.

Part of good health is staying informed and remaining optimistic. It was a tremendous boost to shake the hands of the people working to stop HD, to hear their own optimism, and to see them at work in the lab. They care about people like me, and that gives me the energy I need to keep up the fight.

The time is ripe

Although I am gene-positive for Huntington’s disease and could very soon develop its dehumanizing symptoms, I feel immensely privileged to live in a time and in a country in which a treatment has become possible.

Huntington’s is still a relatively unknown disease; in the HD community, many people are still shrouded in ignorance, fear, and denial. I have touched on these themes frequently in this blog, as in the story of the woman who changed her identity and fled after her symptoms began (click here to read more).

However, scientific research has given us an increasingly detailed understanding of the cause of Huntington’s disease, its symptoms, and its social impact. And new revelations are emerging.

The path of research

In 1993, the huntingtin gene was discovered. Three years later, the huntingtin protein was found. A plethora of projects carried out by scientists around the world have sought to illustrate how the defective protein wreaks havoc in brain cells.

Meanwhile, neuroscientists and psychologists have worked diligently to trace the earliest, most subtle symptoms of the disease – for example, changes in the sense of smell – in order to prepare the way for drugs designed to stop HD symptoms early.

Several MRI studies have mapped how HD devastates specific areas of the brain. I have taken part in two of these studies. Last year, for instance, I spent most of a day lying inside functional MRI machines at a local university. Sometimes I simply slept, while other times I was required to play a kind of video game so that the machine could check my brain’s reactions.

Another discovery

On June 5, scientists made yet another startling revelation that further unravels the mystery of HD: a second protein, called Rhes, interacts with huntingtin in a way that may lead to the death of cells in the striatum, the main area of the brain affected by HD.

Everybody has the huntingtin gene and its protein product of the same name, but only people with an elongated form of the gene develop HD. Huntingtin is present in every cell of the body, so why does HD kill only brain cells? The new research indicates that the presence of Rhes, which is located in the striatum, could be one of the keys to cell death.

Scientists immediately speculated that now Rhes, and not just huntingtin, could become a target for potential drugs against HD.

The new research was carried out at Johns Hopkins University (click here to read more). Rhes itself was first identified several years ago at the Scripps Research Institute in La Jolla.

Nobody can predict when or even if an actual treatment for HD will be developed, because HD involves many factors. Further surprises such as the Rhes discovery could occur ­– either slowing progress by creating new puzzles or speeding it up by indicating other possible drug targets.

Other signs of hope

On June 15, I made a follow-up trip to Isis Pharmaceuticals in Carlsbad, California, to receive an update on the search for a drug to partially block the effects of the huntingtin gene – the first such attempt of its kind. As I did after my visit there last year, I came away with a feeling of optimism about the quest for a Huntington’s disease treatment.

Stay tuned – I will be blogging on my Isis visit very soon. (Click here to read my previous posting.)

Two days later I met with two scientists and a businessman who have started a new early-stage drug discovery company (CalAsia Pharmaceuticals) that uses a cutting-edge technology known as DFS, Differential Fragment-Based Screening, a way of identifying molecules that could serve as drugs. They are considering using their technology to help identify possible treatments for HD.

The other advances and programs taking place in HD research are too numerous to discuss here. Indeed, covering the Huntington’s disease beat properly would require a full-time, professional science writer. Years ago I used to write a tri-annual research “roundup,” summarizing all of the important findings in a single article. In the last few years I have found it too big a task.

That is good news, because it means that scientists are building a critical mass of knowledge about HD that is bringing us closer to treatments and maybe even the cure.

It’s a historic moment.

A fighting chance

When my mother conceived me in 1959, she had no inkling that she would someday develop Huntington’s disease or that she had passed on a defective huntingtin gene to me. In 1999 – ten years ago this month – I was able to take a definitive predictive test.

Since then I have proactively worked to care for my health and contribute to the search for treatments and a cure. I have participated in a support group, become an activist for the Huntington’s Disease Society of America, and taken the supplements recommended by the Huntington’s Disease Drug Works program.

My test result was positive. But today I feel that we in the Huntington’s disease community have a fighting chance to see this disease beaten in our lifetimes. We owe this chance in part to our greatness as a nation and to a generation of researchers who have passionately pursued the understanding of HD and other neurological diseases.

To flee or to fight

People respond to a diagnosis of Huntington’s disease in many ways, ranging from complete denial to optimism about the research for a cure. Indeed, in order to cope, a person with HD or at risk for the disease can experience the entire range of feelings within his or her own life – perhaps in just one day.

In the last decade, I myself have gone through dark moments of thinking that my symptoms had started and also felt near euphoria after learning of potential breakthroughs towards an effective treatment. I tested positive for Huntington’s in 1999, and my mother died of the disease in 2006 at age 68.

But some reactions, falling into a category all by themselves, stir up the deepest of emotions.

Changing her identity

I got that feeling this past week when I read the following anonymous comment on my previous blog posting (click here to read it). It reads:

“Thank you, Gene. I am new to this forum and my connection with HD is an in-law who has begun showing signs. I have wept much since she first confided in me (only five people in the world know as she changed her identity and left home long ago to escape the horror). She is the bravest person I have ever met. I do not know how you live with the time bomb, and I pray for her continually to know a measure of peace. I am adding you to my prayer list as well.”

Reading about this person’s decision to change her identity and move away sank my heart. I felt deep sadness and empathy for this person. I know nothing else about her, but I believe I know exactly what she is feeling.

Like an injured animal that knows it will not survive, she has gone off into the wilderness to die.

She reminded me of Phebe Hedges, a 40-year-old woman with HD who walked into the sea in an act of suicide, as described in Alice Wexler’s book about Huntington’s, The Woman Who Walked into the Sea (click here to read about the book).

The instinct to protect

The woman who fled acted on instinct, seeking to remove herself from all of the social horrors often experienced by the affected and their families, including denial, stigma, and discrimination.

Her instinct also led her to preserve those around her from witnessing the terrible symptoms of HD such as the inability to walk, talk, think, swallow, and remember. As her brain dies and her humanity disappears, their lives will go on in relative tranquility.

I remember visiting my mother for the first time after her diagnosis. I had not seen her since her and my father’s trip to visit my wife and me in California. I had urged my father to seek out a specialist to get to the root of my mother’s unexplained strange behavior. Now, speaking about her diagnosis, she appeared very sad and depressed. She was upset because she could not stop saying “yep.” Her self-control was disappearing. She appeared helpless and bewildered.

Looking back on that moment, I think she must have had those same deep, instinctual feelings about her impending decline.

Thoughts of suicide

The story of the woman who fled evoked my own thoughts about suicide. In the first years after my positive test for Huntington’s disease, I told my wife and some close friends that I would prefer to die with my health relatively intact than to be forced to watch myself lose my ability to write, work, and enjoy my family.

I fantasized about organizing a farewell ceremony at which I would announce my decision to my friends and family and then privately take my leave of the world. This, I thought, would be better than flailing about lonely and mindlessly while being tied down to a chair or confined to a room in a nursing home, the fate of some HD patients.

As I became deeply involved in raising of my daughter and in the local chapter of the Huntington’s Disease Society of America (HDSA), I repressed these thoughts and channeled my energies into the movement to find treatments and a cure.

I am hoping that the memory of those dark thoughts has come alive again only for a short time.

I will need complete focus as yet another stage looms in my personal battle against HD: the need to become more public in my activism.

We must speak out

I would never criticize the woman who fled, for I saw her pain in my mother’s face and have denied my own at-risk status in numerous ways. As my readers know, I use a pseudonym on this blog – my own self-protection because of the horrors of HD. And if I develop full-blown, highly debilitating symptoms, suicide might once again look like the only way out.

But at this juncture I want to go down fighting. And I have come to believe that, despite whatever happens to me because of HD, my life can still have deep meaning and significance.

As one caregiver stated angrily at a Huntington’s disease support group meeting that I attended last month, nobody will notice – or help – affected individuals and their families unless we speak out and let the world know about the enormous challenges posed by HD.

A dream about going public

Two nights ago, after I had started writing this entry, I dreamt very clearly about Huntington’s. In the dream my co-workers – who in reality and in the dream do not know about my situation because of my fear of discrimination, and of losing my job or not getting a better one – are speaking enthusiastically about a new and deeply worthy cause: HDSA. They are planning to attend an exciting fundraising event that the organization is putting on in a few days (click here to read more).

Near the end of the dream I decide to reveal my story to this warm and understanding group of people.

Like the woman who fled, I cannot escape the horrors of Huntington’s disease. But, unlike the animal that dies alone in the wilderness, I can tap into a community for help – a community of HD families, activists, and supporters who are working to find treatments and a cure.

As I often write to others in the community, together we can beat this disease.

HD: hurtling towards death

Knowing that the first, subtle, and practically imperceptible symptoms of Huntington’s disease are most likely already at work in my brain and body, I have become hyper-conscious about the brevity of life.

We are all in a race to death, but people at risk for life-shortening diseases know that their time to the finish line is painfully fast and troubled. In my case these feelings erupted to the surface of my being as I saw my mother in the devastating final stages of Huntington’s disease in 2005 and early 2006 (click here to read more). They intensified as I dealt with deep grief about her death and my future as an at-risk individual after attending her funeral in February 2006.

Since then I have increasingly thought of the acronym “HD” in a very different light. For me it stands not only for “Huntington’s disease,” but also for the fact that I am “hurtling towards death.”

I’ve been a workaholic and a perfectionist since childhood. I feel a fanatical urge to “get everything done” before I start having perceptible, debilitating symptoms. And lately the need to build a prominent legacy has consumed me.

Striving for efficiency

On the professional front, it’s not been enough for me to publish several respected books in my field. I strive for ways to liberate my creative activities in the same way that led Isaac Asimov to write hundreds of books.

At home and on the computer I am constantly responding to and/or saving the many e-mails I receive each day from four different accounts, and I am organizing our family papers into files and file boxes.

On the family front, I’ve been pushing my eight-year-old daughter to practice her piano as we prepare for our second annual piano-guitar duet next month. I pick her up from school three days a week and am in charge of the home for many hours, as my wife also works full time. I regularly have to stop myself from turning our relationship into yet another opportunity to value efficiency above all in my life.

My relationship with my wife has increasingly revolved around raising our daughter, as neither of us has relatives nearby to help with her care or to nurture family ties. As she finishes the third grade, planning for a possible transfer to private school – with her college education in mind – has taken on greater urgency.

We’ve also been spending lots of time and money remodeling our home, and, as I wrote recently (click here to read the entry), we’ve now taken on the building of a swimming pool. The pool will be an antidote to the hectic pace of our lives, but for now its construction is a new source of stress as we negotiate with contractors, watch our back yard turn into a massive hole, and put up with the din of machinery.

A decade of activism

Last month I completed eleven years as an activist for the local chapter of the Huntington’s Disease Society of America (HDSA). For seven of those years I wrote, edited, and published the chapter newsletter and participated in a plethora of other activities, from taking notes at board meetings and folding the newsletters to raising money and organizing meetings of HD advocates with California’s stem-cell oversight board in the quest for funding HD research.

My latest project was to oversee the overhaul of the chapter web site that I inaugurated in 2002. With limited funds and time, it was a time-consuming but rewarding task. This blog will now be published on the site too, and I will manage and edit the site and produce articles for it (click here to visit the site).

All of this frenetic activity has come to a head as I worry about the health of my father, a Huntington’s disease warrior who cared for my mother for 15 years and who has declined rapidly in the past few months (click here to read that entry).

HD people: like anybody else

Two weekends ago someone blind-sided my car, sending me to the hospital briefly and causing $3,000 in damage to my vehicle. I escaped with just a sore neck, but it was the first time I was involved in an accident. The shock left me emotionally paralyzed for the better part of a week, and the hassle of dealing with insurance companies, getting a rental car, and finding a repair shop threw off my focus.

“This can’t happen to me!” I angrily told myself. “I have HD to worry about! I have an agenda to meet and a mission to fulfill!” I was deeply upset at being knocked off balance and losing precious time. As a result, I couldn’t work on this blog for a couple weeks.

I had a hard time understanding that people at risk for HD are just like anybody else. Then I remembered an at-risk friend who got breast cancer just before she started having HD symptoms. Being at risk for HD does not make me immune from the rest of life’s challenges.

Unable to dream of the future

With the help of a psychotherapist I struggle to keep juggling the many balls of my life as I face the inevitability of my symptoms. The pace grows ever faster, and I am frustrated that I don’t have another six hours each day.

I sometimes fantasize about how calm things would be if I were not hurtling ahead into Huntington’s disease. I could perhaps follow the natural rhythm of life, slowing down as I proceed into my fifties and look forward to retirement, my daughter’s college, and her wedding in my sixties.

But that’s where my imagination stops, because my mother started showing signs of HD in her late forties and had full-blown HD by her mid-fifties. The last ten years of her life she hardly spoke and eventually ended up in a wheelchair. By age 68, when she died, she was a mere shadow of herself.

She never really got to know her granddaughter. And now, because of my fear of following in my mother’s footsteps, I can’t even dream about the day my daughter will bring her own child into the world.

So instead of relaxing, I often accelerate my work with HDSA and my other projects. Every day I try to squeeze in as much life as possible.

The fight against HD often feels long and weary. My other passions and manias often help me escape the thought of HD. But they have often left me exhausted.

So, as I write this today, I start to focus on an important question: what should my most important legacy be? But before I even begin to answer this question, I need to catch my breath.

A Huntington's warrior lays down his shield

My father, who is 81 and ailing, was one of those unsung Huntington’s disease caregivers who quietly dedicate themselves to a spouse.

I think of him as a Huntington’s disease warrior.

No matter how bad my mother’s HD symptoms got, he met the challenge every day. He cared for her from the early 1990s until she went into a nursing home in the late summer of 2005, and he visited her at the home every day and fed her lunch until she breathed her last breath on February 13, 2006.

Complete dedication

In retrospect, my father might have learned more about HD and found many other ways to help my mother, but as a companion and caregiver in the home he was completely dedicated. As he watched HD inexorably destroy her body and mind, he gradually took over all the household responsibilities and stoically and lovingly saw to all of her needs. He got her up in the morning, dressed and groomed her, put on her lipstick, prepared three meals and spoon-fed her, assisted her in the bathroom, and bathed her.

My father told me once that she was the only woman he had ever slept with. Although he could be crotchety and domineering at times – what men in his generation weren’t? – he showed her unquestioning love and loyalty.

Whenever he went out, he took her along, no matter how long it might take to get her ready or how difficult it might be to get her in and out of the car. One image forever burned into my memory is of the two of them leaving a restaurant that had a heavy entrance door. As she shuffled her way through, with him trying to guide both her body and the door, she lost her balance. Her body swiveled and then flopped to the ground, thumping on its side like a wrestler knocked to the mat. In the final months, she was in a wheelchair.

My mother was only 68. Had it not been for HD, she might have lived well into her eighties, as had both her mother and maternal grandmother. And she could have helped care for my father, who was ten years older.

Signs of decline

In the last few years before her death, my father started to show some of the usual cognitive decline that comes with aging such as forgetfulness and confusion, but he kept both himself and my mother going.

Not long after she died, however, he told me, “It won’t be long before I follow your mother.”

My father had lost his reason for living. Last year, as his decline accelerated, he moved into an assisted living facility (click here to read my entry about the process).

Rapid descent

Since then, he has gone downhill even more rapidly. One day in late February he walked out of his room looking for my mother. The head caregiver had to take him aside for a long talk and explain patiently that his wife had died.

In March I flew to my hometown to spend a few days with him at the facility. He was in a so-called “memory care” unit for people with severe cognitive loss. He cannot leave the unit without a family member or caregiver.

It took my father a while to grasp fully that I was his son. He now has no memory of my mother’s death from Huntington’s disease. In fact, he no longer knows what HD is. Perhaps that is a blessing. Walking just a few yards tires him. Once it took him several minutes to lift himself up from the couch. I had to coax him to eat and drink.

Glimpse into the future

As I spent time with my father and tried to improve his care, I was reminded painfully of my mother’s demise. And I got a probable glimpse into my own future in a care facility if an effective treatment or cure for HD is not found soon. I tested positive for the HD genetic defect in 1999, and I am now at the very age when my mother’s symptoms started.

On April 18 my father became severely dehydrated and was admitted to a hospital. When I called on the phone, he could barely speak. On April 23 he was transferred to a rehabilitation facility, where physical, speech, and occupational therapists will attempt to revive his health to the point where he can return to the assisted living home.

I had a difficult time this past week thinking of my father. For a couple of nights I slept poorly because while I thought his death might be imminent.

A stroke and painful transitions

I’ve thought about how lonely it must be for my father in the rehab facility. The transitions have been many and brusque: from losing his wife to losing his car and home to losing now the last semblance of a home life, with yet another group of strangers in charge of his care. The rehab nurse told me on April 24 that he had trouble remembering his name and mentioned that his doctors had listed a stroke as a possible diagnosis.

Today my cousin and uncle visited my father and were told again that he had had a stroke. My cousin wrote in an e-mail: “I fed him a cup of ice cream. No way he could have fed himself.”

On the night of the 24th I opened several e-mails from the real estate agent hired to sell his condo so that he has sufficient funds to pay the very expensive monthly fee at the assisted living. In one of the messages, I clicked on a link that took me to a virtual tour of the one-floor condo, where my parents had moved when my mother’s symptoms made it too risky for her to continue in the split-level home where I grew up.

The video camera zooms in and out as it travels through each room of the condo. I can see the bathroom where they spent so much time together struggling to overcome what HD had done to my mother’s mind and body. I see the bedroom where he slept alone, the kitchen counter where he fed her, the family room where he spent countless hours reading the paper, watching TV, and talking to her as she sat silent and motionless in a chair.

I also see the bed where my mother slept – the bed where HD ravaged her brain. Whenever I visited my dad after my mother’s death, he offered that bed to me. I shuddered at the idea of lying down in the same spot where my mother slowly lost the last of her cognitive abilities. I could not bear to think that I might become like her. I refused to sleep there.

Watching the video was an eerie and completely unexpected experience. Nobody is in the picture, and some of the furniture is gone. Everything is tidy.

The cycle of life continues. The old Huntington’s disease warrior who fought so many battles for his beloved is now laying down his shield.

Our economic comeback and the cure industry

As the unemployment lines grow and our economic crisis deepens, America’s leadership of the world comes into question. Can a country that literally gambled on its financial future make a comeback?

Bankers, business people, and politicians must honestly correct the mistakes that took us to the brink of financial collapse.

But America also needs to plan for the future in a way that renews our leadership and inspires confidence.

President Barack Obama has spoken frequently of rebuilding the nation’s infrastructure and developing green technologies that make us less dependent on oil and other pollutants. The government has already committed massive sums to these goals.

The president has also identified health care reform as essential for our future. There is huge potential in this area, but in order to realize it, but we need to look at health care in a new way.

From innovation to obesity

For a long time, we Americans were a nation of innovators. From people who tinkered in the garage at night to the great inventors and scientists working in the world’s best laboratories, we created a cornucopia of new products and solved a myriad of problems. Flash of Genius, a movie released in 2008, captures the spirit of individual creativity still present in the 1950s and 1960s. Americans always had a “can do” attitude. No challenge seemed insurmountable.

But as the also film shows, large corporations helped snuff out that spirit.

And our wealth went to our heads, making us complacent, arrogant, and, in many cases, literally obese. Like the people in the animated film Wall-E, which I watched recently with my eight-year-old daughter, we have moved into an oasis built on ignorance and a total disconnect from reality.

Instead of innovating and producing, we became a service economy dominated by the financial sector. We have been living off the fat of the land.

In a world where so much of our work has been outsourced to China, India, and elsewhere, what will there be left for America to do? Will we become, as one influential congressman once sarcastically declared, a nation where everybody just delivers pizza to one another? How can we possibly lead the world again with vigor and vision?

A new industry

One way is to use our ingenuity to create new products that the whole world will want to buy. In the past we did this with cars, airplanes, computers, and a whole assortment of other inventions and goods that people everywhere wanted.

This new array of “products” should be treatments and cures for diseases and the procedures and medications that go along with them.

While much of the debate about our health care system promises to follow the old paradigm of public versus private, American versus European, we need to expand our vision of health care to include a cure industry. In this broader view health care is not a drain on society, as it is currently seen, but the motor that generates new wealth.

Thus the president and our leaders need to expand our vision of health care beyond the idea of simply controlling costs.

Seeking the end of disease

America’s call to action today should focus on the elimination of disease.

America proclaimed a war on poverty and another one against drugs. What we need now is a mission to find treatments and cures for all diseases.

Strangely, no leader in more than a generation has stepped forth to declare a campaign against disease, even when we had federal budget surpluses and a booming economy in the 1990s.

To carry out this mission, we need once again the same "can do" spirit that brought us the Marshall Plan, the construction of the Interstate Highway System, and the Apollo space project. And we need a new generation of tinkerers and dreamers to provide the solutions.

Our leaders need to help create this vision by focusing on what has always been America’s great plan: the pursuit of a quality life for all people.

Leadership and accountability

Sadly, in our recent history the presidency has meant a flight from leadership rather than the willingness to assume it bravely. President Bill Clinton squandered the opportunities of the post-Cold War peace dividend and, instead of resigning in the wake of the Monica Lewinsky affair, stayed on and devalued the office. Instead of calling Americans to volunteer for the armed forces or other new initiatives after the 9/11 attacks, President George W. Bush sheepishly asked Americans to shop and take a vacation.

Focused as they are on the economy, President Obama and our legislators should boldly announce a plan to eradicate diseases, from AIDS to Huntington’s. Our university laboratories, biotech companies, and pharmaceutical industry should collaborate to invent new treatments and drugs that will form the next generation of products “made in America” and desired around the world.

Educators and government officials at all levels must rekindle our youths’ interest in science, math, and engineering, so that a new generation of Americans can take charge of the cure industry and pursue many other worthy goals in the fields of science and technology.

Public-private partnership will be crucial in this initiative, as it was in so many of the great achievements of our past. This will require greater accountability and productivity on both the part of government and industry and especially of the National Institutes of Health and the large pharmaceutical companies, both of which have suffered a loss of prestige in recent years. All the players involved need to be more agile and innovative.

This new mission will require us to retool America economically and morally. And, instead of borrowing our way out of our economic crisis, it provides a way to create our way out.

A holiday message: hope for the forsaken of Huntington’s

Growing up Catholic, I was always both bewildered and impressed by Jesus’s words on the cross on Good Friday: “My God, my God, why have you forsaken me?”

I wondered: why would God the Father – Jesus’s own father! – abandon his son? At that moment, dying for all of humankind, Jesus hung on the cross in utter loneliness.

As I have contemplated Passover, Holy Week, and Easter in light of my gene-positive status for Huntington’s, it struck me that HD patients and their caregivers must often feel just as forsaken in their daily struggles against this condition that destroys the brain.

Bearing burdens

After writing about my family’s decision to borrow money for us to build and enjoy a swimming pool while I am still healthy (click here to read the entry), I received an e-mail from a caregiver. Her husband died young of HD, and her adult daughter now has the disease.

“I am wide awake at 3:26 a.m.,” she wrote in telling me of her many burdens and reminding me of the many nights my wife has lost sleep in worrying about my health. She continued, “I don’t think there is anything as ugly as HD. Satan did a good job creating this one! If I could only stop, for just a day.” But she didn’t give up and has started a Huntington’s disease support group.

This past week I also met a brave woman, Missy, through WeAreHD.org (the Social Support Network of Huntington’s Disease). Her late husband had been diagnosed with HD when she was eight weeks pregnant with their second child.

Men usually pass on HD in a far worse form than women, and this also results in their children getting the disease much earlier. The father died in November 2007. Only two months later, the couple’s oldest child, Jordan, was diagnosed with juvenile Huntington’s disease. Now 13, Jordan already experiences the involuntary movements, known as chorea, that ultimately stop HD people from working and walking.

I was shocked to read that Jordan has 73 CAG repeats. (Everybody has the huntingtin gene, but the repeats of the CAG trinucleotide are normally no higher than 30.) I have 40 and am on the cusp of what is defined as HD. The number 73 is phenomenally high. In general, the higher the number of repeats, the earlier onset will occur and the more severe the disease will become. That’s why Jordan is already so deeply affected.

Here is how Missy describes her daughter’s symptoms on her page at WeAreHD.org: “twitching, choking, decline in school work, abnormal gait, decline in speech, some falling, mild depression, some memory loss. Dementia is starting to come into play.”

Missy urged us to get our pool and enjoy our time together. She told me how Jordan had an easier time with mobility when she entered a pool in Florida during a trip away from the family’s home state of Wyoming.

I was deeply moved by the image of a young person being struck down by HD just as she was beginning the transition to full awareness about her body, her surroundings, and her life. I thought of her enjoying the warm water of the pool despite the curse of Huntington’s.

Feeling abandoned

And I wondered how forsaken she must sometimes feel. Where was the God of the Passover who spared the first-born of the Israelites while ravaging the households of the sinful Egyptians?

On Good Friday I listened to one friend tell of another’s struggle to deal with a recent and rapid onset of multiple sclerosis. Like HD, MS is a disease of the central nervous system. Our friend is having spasticity (impairment of the muscles). She is only in her forties but could be relying on a wheelchair in as few as seven years.

Thinking of my own mother’s death because of HD three years ago, I could not bear to listen to our friend’s plight and had to turn away. How long will it be before I start to show symptoms and lose the ability to walk, talk, swallow, and think?

I too felt forsaken.

But, according to the Bible, God delivered the Israelites to the Promised Land.

And less than three days after Christ died on the cross, He rose from the dead.

Finding hope

The Passover and Christ’s Resurrection are two of the most unbelievable stories ever told. Through the centuries, these stories have motivated billions of believers in numerous religious traditions. Today many people still believe in the literal intervention of God on behalf of the Israelites and in the Resurrection. Others are indifferent or discount these stories as superstition.

They are undeniably stories of salvation that all people can relate to. An overburdened caregiver’s attention to the sick is akin to the men carrying the dead Jesus to the tomb. The yearning for a cure for a girl with juvenile Huntington’s is like the hope of the Israelites in Egypt.

What human being has not struggled with the inevitability of death? Families struck with Huntington’s feel it all too soon and all too poignantly. But, as Jesus exhorted people to do, Huntington’s families take up their cross and move on with life.

The Promised Land and the Resurrection are their hope – a land and an existence enjoyed with the fullness of life and without twitching, choking, depression, or dementia.

The prophets and Jesus asked their followers to believe in the possibility of such a life. In effect, they asked people to believe in the seemingly impossible. Today, scientists are making immense strides in finding treatments and perhaps even a cure for a disease that not so long ago seemed incurable. Like the faithful of the past, Huntington’s disease families can persevere if they’re willing to believe in the possibility of the cure and dedicate themselves – no matter how modestly – to the cause.

In a time of crisis, the best investment of all

The economic crisis threatens to end our leadership of the world’s financial system and erode our standard of living. We have borrowed too much on our future, leading other nations to doubt the value of the dollar and sapping resources from investments that could reinvigorate the economy. The export of jobs and factories to China and other countries has weakened our ability to bounce back. The state of California is broke, and the extra taxes of all kinds we’re already paying here won’t put more than a dent in the deficit.

It’s a tough time to raise money to cure a disease – especially a cruel and fatal one such as Huntington’s disease, where not a single treatment is available for attacking the root causes.

It’s an especially harrowing time for me as I approach the tenth anniversary of my positive test for Huntington’s and the age at which my mother, who died of HD in 2006, began to show symptoms. Like most other Americans, my wife and I saw the value of our retirement savings plunge by 30 to 50 percent. For the first time in our careers we will not get a raise.

I worry a lot about what will happen if I become symptomatic and lose my job, forcing my wife to carry the full burden of supporting the household and saving for our eight-year-old daughter’s college education.

Taking on debt

So what did we do last month? We responded the American way and took on more debt! With the government pushing mortgage rates to historic lows, we decided to refinance ours at a very attractive 4.375 percent – and took out $75,000 to build a swimming pool and fix up the house.

We easily qualified for the new loan because we prudently stayed away from extra borrowing during the financial bubble. In fact, we’ve always played it very conservatively with our money because of my at-risk status.

But I’m scared about this new path we’re taking. Sometimes I think we are just as crazy as our financially irresponsible leaders in assuming this new debt at the time that my HD risk grows exponentially. In HD gene-positive status means that a person definitely develops the disease.

My wife denies it, but I believe that she wants a pool to substitute for the second child we did not have. Our daughter tested negative for HD while still in the womb, and the prospects of a second round of prenatal (or pre-implantation) testing, coupled with the stresses of my own at-risk situation, kept us from going through another pregnancy.

My wife sees the pool in the back yard, including a spa, as the new focal point for family relaxation and a place to enjoy with friends. Most of all she thinks it will provide fun, exercise, and unforgettable memories for our daughter.

In one of those many episodes of delicate negotiation that make up the everyday reality of marriage, I finally agreed to the pool. (In the deal I am supposed to get some custom bookshelves for my home office to replace the wobbly ones purchased many years ago at a discount outlet.) Like so many of our decisions, we ultimately agreed because we want our daughter to grow up with as many opportunities as possible. She just loves playing in a pool!

As I write these words I can see her laughing and splashing in the water as I stand at the grill preparing dinner and my wife sits in the spa with a glass of wine. It’s the kind of picture I use to help me escape reality.

Enjoying the moment

But the daily reminder of my gene-positive status and the memory my mother’s death jolt me into the reality of mortality.

Life really is short, and every moment that passes is unrecoverable. I do want my wife and daughter to enjoy that pool to the fullest. If we just keep waiting for the “right moment,” it could be too late for all of us. My daughter will have grown up, and perhaps I will have become like my mother – speechless and confined to a wheelchair.

I also view the pool as a place for me to unwind. Those living at risk for Huntington’s are bolstered when stress is lowered. The opportunity to swim more often will also be therapeutic, as we want to install an “endless pool,” an underwater jet spray that creates a current against which to stroke.

Despite Huntington’s and the bad economic news, life must go on. I’m at risk for HD, and that means our family inevitably ends up taking more risks in other realms of life.

I am striving to live out one of the grand lessons that being at risk has taught me. There are things more important than career and even more important than taking part in the monumental effort to find treatments and a cure for HD. They are the moments I can love my family and leave my daughter with the warm feeling of togetherness and being cared for.

That’s the best investment of all.

Disease, denial, and support: the many kinds of family

Huntington’s disease, a cruel and fatal illness with no treatment or cure, triggers the best and worst in people’s ways of facing adversity.

In my own extended family the different reactions to HD have brought me both the deepest emotional pain and the warmest feelings of human solidarity.

Something’s wrong with Mom

In the late 1980s my mother started having strange emotional outbursts. When I visited home during the holidays in 1989, I heard my mother crying as she told a friend on the phone that she couldn’t handle having me home, even though I hadn’t seen her in more than a year. My father complained that they would dress for church or an evening out, only to have my mother insist at the last minute that they stay home. By 1992 her legs sometimes starting shaking uncontrollably at night. My father would hold them down in the bed for a while, but the shaking would not stop. At the time I did not know about these incidents, and my parents, probably thinking the shaking was not a serious problem, did not seek medical assistance.

I was living in another time zone, so I could not observe my mother’s daily behavior. My sister, who lived around the corner from my parents, did not take any action, and, for a combination of reasons that included lack of knowledge about medical matters, she never commented to me about the changes in my mother.

Then, in early 1995, my parents came to spend two months with my wife and me. We immediately saw that something was wrong with Mom. She was depressed and would pout like an angry child. I took her to a bedroom and, with my father watching, gave her a neck and back massage to calm her down. I suspected (wrongly) that my mother’s anti-depressant was causing a negative reaction or was at the wrong dosage.

I urged my father to take my mother to a specialist, and he finally did. They made the rounds to different doctors and heard diagnoses such as dystonia and chorea (but not specifically Huntington’s chorea, as HD used to be called). Then a neurologist suspected Huntington’s disease. In mid-1995, without my knowledge, my mother tested positive.

Ignoring the problem

Although my parents had learned that HD was a genetic disease and that my sister and I each had a 50-50 chance of inheriting it, they did not call or write with the diagnosis. (They never explained why. I can only speculate that at the time my parents didn’t fully understand the disease, and, like lots of other members of my extended family, believed that ignoring the problem would make it disappear.) The day after Christmas I opened a holiday letter from my sister stating that she was relieved to finally learn the cause of my mother’s problems.

I immediately called her and for the first time heard the phrase “Huntington’s disease.” In the space of a few minutes, the seemingly distant and certainly resolvable problems of my mother had become something very different. Not only did she face a monstrous future; so too, possibly, did my sister, her husband and three sons, my wife, and I.

Reacting to the trauma

I quickly became involved in the local support group of the Huntington’s Disease Society of America (HDSA). But I did not react calmly. In a few months I went into a period of denial and irresponsible decision-making. I did not right myself until the spring of 1998, when I became an activist with the local chapter.

With each year my activism has grown exponentially, as I have recounted in so many entries in this blog. As my wife puts it, not a day passes that we don’t think about Huntington’s disease.

As I learned about the disease, I passed information along to my father and sister in the hopes that they would do everything possible to keep my mother as healthy as possible as we waited for a treatment or cure. My father cared for my mother until she went into a nursing home in August 2005. I deeply admired his love and devotion, but I became increasingly frustrated at his and my sister’s inability and unwillingness to obtain therapies that might slow my mother’s decline.

Unbearable possibilities

I was the family problem-solver and, whenever I went home, I mobilized the family to take necessary steps. However, living so far away, I was limited. And I could not force my father and sister to take my advice.

Aside from concerns about specific aspects of my mother’s health, I had few conversations about HD with my father and practically none with my sister. I sent them publications and told them about dietary supplements and experimental drugs. Once, at the beginning of my HDSA advocacy, I convinced them to donate $300 each to a fundraiser. My father followed my suggestion to serve my mother blueberries and have her take a fish oil supplement. But we had no serious, sustained engagement about Huntington’s.

Whereas I took the HD test in mid-1999 and have rigorously taken the supplements recommended by Huntington’s Disease Drug Works (HDDW), my sister decided against testing. Because there is no effective treatment or cure, she would rather live without the devastation caused by a positive test and the long-term worry of wondering when symptoms would start. Many, many at-risk individuals take this path. For her, I believe, it’s unbearable to consider the possibility of having inherited HD from my mother and perhaps having passed it on to her three sons.

My father and especially my sister have preferred total denial. Before a visit back home in 2001 my sister had agreed to allow me stay at her house so that I could save hotel money and would not have to see our deteriorating mother every minute of my time there. At the last minute she went back on her word. Distraught, I cancelled the trip.

During another trip home I called my sister to discuss the need for communication and family solidarity. She hung up on me. We did not see each other that visit.

Around that time my wife and I offered to buy her eldest son, a high-school student, a round-trip plane ticket to come visit us. My sister never responded.

My gene-positive status is a constant reminder to my sister and her family of the threat of HD. Our daughter, who tested negative in the womb, is a symbol of the peace of mind my sister must wish she could have for her own children.

No sympathy

After I revealed my positive test result to my sister and father, they did not respond: no sympathy card, no phone calls, no offers of help or solidarity. Not once did I hear the phrase: “I’m sorry that you tested positive.”

Only when my mother’s death became imminent did my sister express any sympathy. After I visited my mother in the nursing home in January 2006 and contemplated my possible future by looking into the genetic mirror, my sister said: “That must have been hard for you.”

Only about a year after my mother’s death did my father, watching me take HDDW supplements, recognize for the first time that I could be struck with HD.

Now that my mother is gone, my sister and I have had to focus on finding an assisted living facility for my father, who is going downhill rapidly. During July 4 week I took my eight-year-old daughter back home to visit her grandfather for what could be the last time. I hoped the trip would create a sense of family for my daughter and build family solidarity.

But the attempt at solidarity backfired. My brother-in-law refused to shake my hand and to greet my daughter, and my sister was visibly nervous throughout the visit.

In recent weeks I left my sister messages to call me about our father. She called me back once and, with her family egging her on in the background, she began an angry tirade, then hung up. When I tried to call back to calm her down and reason with her, my brother-in-law and oldest nephew angrily answered the phone and swore at me. When I started to raise the issue of HD, my brother-in-law laughed and hung up.

With no hope of effectively communicating with my sister and her family, I have turned over my part in the matter of my father’s care to a lawyer and asked him to serve as an intermediary between me and my sister.

HD all over again?

My sister’s strong reaction eerily reminded me of our mother’s outbursts at the start of her disease. My sister is 46, and it was in her late 40s that my mother perhaps began to show the first psychiatric symptoms. My wife and I wondered: could my sister be showing the first signs of HD?

In a farewell e-mail to one of my nephews, I asked whether my sister had ever sat down with him and his brothers, now adults, to discuss the possibility that they and their potential children could inherit HD. They know that their grandmother died of Huntington’s, but, following in the footsteps of their mother’s denial, they seem oblivious to its implications.

“Mental problems”

For all their denial and aggressive behavior, at least my sister and her family know what HD is. An uncle and aunt have displayed an even stranger, more perverse form of denial.

Ever since they learned about my mother’s illness, my mother’s older brother and his wife have completely hidden the fact of HD from their two children, their son-in-law and daughter-in-law, and, by extension, their five grandchildren. According to my aunt and uncle, my mother had “mental problems.” My aunt has always alleged that she needed to protect her family from having to worry about HD.

I have heard rumors over the years that my uncle would get tested, but I don’t know if he ever went through with it. He’s now in his mid-70s and probably does not have the disease.

My uncle is a successful small businessman. He lives in a fine home and always drives the latest cars. Whenever I tried to call him to ask for a donation to fight HD, he complained about all of the solicitations he was getting from HDSA and other causes. One time he gave $100. I later wrote a long letter explaining how the family had to rally together around my mother. I hinted that, as a successful businessman with many contacts, he could make a substantial donation and also play a leadership role in fundraising. I never heard back.

Over the years I became weary of hearing my aunt talk of the need to shield her children. She and my uncle rarely visited my mother throughout her illness. Only when she came close to death in the nursing home did they come to visit more frequently. Even then, my aunt could not get much beyond her concerns about protecting her immediate family.

However, when my mother died, my aunt and uncle had no choice but to reveal the truth. But they told only my cousins – not their spouses – about HD. Somehow they arranged for only my cousins, and not their families, to attend my mother’s funeral. I can only imagine what strange logic was used.

I never pressured my aunt and uncle to change their views or to reveal anything to their children. The fear and stigma of HD in this branch of the family seem like a page out of Alice Wexler’s new book on Huntington’s disease, which I recently reviewed (click here to read the review). HD had become such a huge taboo that I decided simply to live and let live.

A polar opposite

Another branch of the family has acted in a completely different way. From the start, my father’s brother and his family have demonstrated complete solidarity.

I hadn’t seen my cousin—my uncle and aunt’s eldest son—in some fifteen years. When I called him out of the blue in 1999 to seek a donation for my first HDSA fundraising event, he demonstrated that he had been completely informed of my mother’s illness. When I sheepishly asked if he could donate $300, he shot back: “How about $1,000?”

I opened up immediately to my cousin about my gene-positive status and got advice from him on insurance questions. Later, when HDSA sought to improve its advocacy program, my cousin used his connections in the legal profession to help out. When The Washington Post published an article about HD and my story in 2005, my cousin immediately ran out to buy extra copies of the newspaper for me (click here to read the article).

During my July 4 trip back home I visited my cousin’s home along with my daughter and my father. We talked about HD, my sister, and my father’s decline, but we also enjoyed many stories from the past. I don’t drink hard liquor, but my cousin showed me his collection of Scotch whiskeys and got me to try a few. It’s been decades since I’ve felt such family togetherness. I was thrilled that my daughter could experience such a warm reception from relatives. My cousin is a true leader in the family. I know I can count on him.

Building a new family

After my sister and her family yelled and swore at me on the phone, a feeling of deep gloom about humanity came over me. I wanted to write this entry immediately, but for several days I became emotionally paralyzed.

Sadly, it is the inability to overcome denial and the lack of solidarity that sometimes make HD families their own worst enemies. Rather than reaching out, these families hide.

How wonderful it would be if my sister and maternal uncle and their families could join our cause. But they operate with the belief that information is harmful. I operate with the hope that it can ultimately be liberating.

I cannot change their way of thinking. And although it confounds me, I do not judge them. Because they have never opened up about HD, it’s impossible to fully understand their motives. I have to accept that each person deals with adversity uniquely. And as adversity goes, HD is extremely difficult. The bigger life’s challenges, the greater the potential for rising to the occasion – or hiding in the sand. I truly hope that they do not have to face the scourge of a positive test result for Huntington’s disease and all that it implies.

The good news is that I can focus on the positive side of the family in the person of my cousin and those around him. And I can be a force for greater openness by writing in this blog and continuing my work with HDSA.

And the gloom begins to dissipate even further when I think of all of the HDSA support group members, fellow activists, scientists, physicians, generous attendees at our fundraisers, and the virtual community of HD people and at-risk individuals with whom I communicate from around the world. They do care. Together we have built our own family.

The roots of our stigma

Huntington’s disease carries a huge stigma. Many families with HD cover it up, and many face discrimination. Surrounded by fear and ignorance, in many ways Huntington’s is stuck in the Dark Ages.

Why is this so?

Most people have not heard of Huntington’s or have only a very vague idea about it. It’s a devastating disease that people, once they see it, would rather not think about because it makes them confront an ugly version of mortality. HD destroys people’s humanity, frequently reducing patients to shaking, emaciated, wheelchair-ridden bodies unable to communicate with others. It’s like looking at death in slow motion.

Indeed, in remembering loved ones lost to HD, family members often refer not to the date of death, but the time of the onset of HD symptoms. I know that I lost my own mother, who died of HD in 2006, many years before that.

But the stigma derives not just from HD’s destructiveness. Different people in different times and places have reacted to the disease according to their circumstances and the beliefs of their communities about disability, science, and human nature. The stigma becomes hard to wipe away because it is part of the way people have learned to think and feel about HD, as taught by their families, doctors, schools, and government.

A new book uncovers prejudices

For the first time, a new book explores the roots of HD’s stigma. Written by historian Alice Wexler, it is titled The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease (Yale University Press).

Many will recall Alice as the author of Mapping Fate: A Memoir of Family, Risk, and Genetic Research (1995), in which she chronicled her mother’s demise because of HD and her dynamic family’s quest for a cure. Starting in the late 1960s her father, the late Milton Wexler, became a national champion of HD research, and her sister Nancy Wexler, a top scientist, helped pioneer the Genome Project and the discovery of the HD gene in 1993.

Like so many of us, Alice, too, is at risk.

In The Woman Who Walked into the Sea, Alice explores how Americans over the past two centuries dealt with and interpreted HD. Although people in the early 1800s did not know what caused St. Vitus’s dance – as HD was then known – they understood that it ran in families. Some people with HD faced prejudice, but others were tolerated in their communities. Contrary to popular images of the disease, a number of HD-affected individuals achieved local prominence and great respect, as Alice explains.

However, today’s HD-affected families also will be all too familiar with the portraits and struggles depicted. For example, on a summer night in 1806, Phebe Hedges, a 40-year-old woman from East Hampton, New York, walked into the sea in an act of suicide. Remembering doctors’ failure to understand my mother’s condition, I found it painful to read about past families’ experiences with clinicians who were unfamiliar with HD’s symptoms or who refused care and instead urged affected families to avoid marriage and having children.

Instead of following the standard line about heroic researchers, Alice spends much of the book focusing on the challenges faced by the families.

The ambiguous Dr. Huntington

Thus the American physician Dr. George Huntington (1850-1916) appears in the book as a very ambiguous figure. On the one hand, he was the first scientific observer to note that HD involved what would eventually be called “dominant inheritance” – in other words, that a child of an affected parent had a 50-50 chance of inheriting the genetic defect and that the disease disappeared in the branch of a family where a particular parent did not have it. As a result, after the publication of Dr. Huntington’s findings in 1872, St. Vitus’s dance quickly became known as Huntington’s chorea – “chorea,” of course, meaning the shaking produced by the disease. (“Chorea” later gave way to the word “disease” when it became clear that HD also involved cognitive and other problems.)

On the other hand, Dr. Huntington used the concept of “insanity” to describe the depression and difficulties in judgment resulting from HD. That emphasis, Alice asserts, “introduced a term with powerful negative associations” and “may have heightened social fears surrounding the disease.” Scientists classified Huntington’s as a “degenerative disease,” reflecting not only its neurological reality but beliefs in social Darwinism, survival of the fittest, and the concept of a superior race.

Despite the importance of his discovery, Dr. Huntington showed no interest in carrying out further research. The Woman Who Walked into the Sea teaches us that, in the late 1800s and early 1900s, many other scientists were involved in discussions about HD, both positive and negative. Understanding the disease was a collective, international effort.

As the field of medicine modernized in the late 1800s and created the new specialty of neurology, Huntington’s was transformed from a “medical curiosity” into an “interesting” disease, Alice observes. Because of HD’s genetic cause and consistent symptoms, many neurologists came to see it as the “neurological disorder par excellence.” Research on HD broke new ground in the history of medicine. It helped to disprove the widely held belief that acquired – not genetic – influences could be passed on to the next generation. Understanding that a disease could have a specific genetic cause invalidated the belief that a person’s “weakness” or generalized tendency to illness could degenerate into any number of diseases.

Eugenics and sterilization

However, scientific progress, combined with an exaggerated emphasis on survival of the fittest, fostered extreme measures against people with disabilities. Long before Nazi Germany, the United States embraced eugenics, the idea that society should improve its genetic stock by preventing the unfit from having children. In 1907, Indiana passed the first legislation legalizing sterilization of inmates in public institutions. Over the next three decades, our country produced the harshest eugenics laws in the world outside those implemented by the Nazis.

Families with HD bore the brunt of eugenics. Alice describes the work of Dr. Elizabeth Muncey, a federal Eugenics Record Office researcher who compiled information on more than 4,000 people, past and present, who were linked to Huntington’s.

“Muncey was doing science, but also surveillance,” Alice writes. “She was scrutinizing certain families, diagnosing and labeling them, and in this manner, setting them apart from their neighbors. In this environment, her questioning, not only of the affected families but of their neighbors, ministers, and physicians, as well as town officials, inevitably put the families on display in a way that they had never experienced before.”

Alice Wexler

Charles Davenport, a scientist who worked with Muncey and analyzed her data, concluded that “it would be a work of far-seeing philanthropy to sterilize all those in which chronic chorea has already developed.” It was the government’s job “to investigate every case of Huntington’s chorea that appears and to concern itself with all of the progeny of such.” A government that failed to prevent the spread of Huntington’s was “impotent, stupid” and invited “disaster.” And immigrants with Huntington’s should not be allowed into the country. Davenport called for developing a predictive test for Huntington’s for eugenic purposes.

In the 1930s the Nazis may have forcibly sterilized as many as 3,500 people affected by HD. Tens of thousands of Americans were also involuntarily sterilized between the 1920s and 1960s, some of them perhaps affected by Huntington’s.

A long life for historical fictions

Alice illustrates how the scientific theories of the early 1900s, although eventually rejected, endured in our culture as beliefs held by everyday people. This deepened the stigma of HD. For decades, doctors continued to recommend against marriage for families affected by HD. Sadly, rather than researching ways to alleviate the disease, the scientific and medical communities advocated control of the families.

Fear about Huntington’s reached a crescendo in the 1930s and 1940s. New theories emerged, claiming that the original sufferers of the disease had been accused of witchcraft and had even played a part in the famous Salem witch trials of 1692. Both respected scientific journals and the popular magazine Literary Digest published articles on the alleged witchcraft connection; the Digest referred to HD as “the witchcraft disease.”

Not until 1969 did others debunk these “historical fictions,” as Alice calls them, adding that one perpetrator still clung to them as recently as the 1980s. Alice states unequivocally: “I have found no credible examples of an individual accused of witchcraft who behaved in ways evocative of this disease.” Even some people in the HD community still subscribe to the witchcraft theory as a way of highlighting the status of affected individuals as victims of oppression.

Time for indignation and action

The long history of prejudice and misunderstanding about HD reconstructed in The Woman Who Walked into the Sea will make you indignant, no matter what your relationship to HD. Alice’s book provides important information for scientists, activists, and families involved in the search for treatments and better care for people with neurological diseases. She shows us that disease is not just a question of science and medicine, but also of history and the cultural codes that we all live by.

As a gene-positive individual and activist, I will use The Woman Who Walked into the Sea to explain to our community and to others why the disease has so long been stigmatized and shrouded in mystery.

It also will help combat the stigma today. As Alice so expertly illustrates, substituting “fact” for “superstition” does not always lessen stigma and prejudice: at first, modern science actually increased prejudice via the practice of eugenics.

Recently I read a reader’s comment on a newspaper website asserting that it was wrong for a couple facing HD to have children. It angered and saddened me. Today we have genetic testing for HD, but, thankfully, the decision to go through with it lies solely with the at-risk individual. The information is confidential. We also have pre-implantation genetic diagnosis (PGD), which permits a couple to select a non-HD-carrying embryo for in vitro fertilization.

My wife and I tested our own daughter, conceived before PGD was available, while still in the womb. She is negative for HD. We wanted a child, even though we knew that my own gene-positive status meant I could soon become disabled. The history of HD as recounted in The Woman Who Walked into the Sea warns us of the need of HD families to assert their rights to have children and to guard against discrimination.

We know that we can shape a better future for ourselves by advocating for better understanding of HD and, as Alice urges, demanding that the medical and scientific communities use new biomedical knowledge to benefit families. This means getting involved in advocacy and politics. Many people may find this distasteful or difficult, but unless we do so, we run the risk of facing new versions of the HD stigma.

Huntington's disease, destroyer of families

When my mother died of Huntington’s disease 28 months ago, she became but the first victim of the disease in our family.

The stark truth of HD’s reach into our lives came down like an anvil on my head when I received a surprise phone from a social worker, who told me that my 80-year-old father might have to be admitted to the geriatric psychiatric ward of the hospital back in my hometown. Someone at the Veterans Administration, where my father has occasional medical appointments and picks up his discounted medicines, had filed a complaint with Adult Protective Services, the agency that looks after adults who are neglected or unable to take care of themselves.

When the social worker looked in on my dad, she saw him talking to my mother’s wedding picture, turning on the television for it, and checking frequently to make sure that “she” was okay.

My father started caring for the picture around the first anniversary of my mother’s death, about 16 months ago. He sometimes takes it with him in the car and to my sister’s and friends’ homes, and he hangs a decoration on it.

“You know that it’s just a picture, don’t you?” my relatives and I always ask him. He readily responds yes.

HD wiped out the ‘golden years’

After 48 years of marriage and 15 years of caring for my mom after her HD became full-blown, it’s understandable that my dad would develop an attachment to her photo. He’s especially lonely because I live thousands of miles away and because he has relatively little contact with my sister, her husband, and their three sons. According to my sister, he became alienated from them in part because he had dedicated himself fully to caring for my mother and had no time for them. He has nobody to help him with the grieving process.

My father had remained quite alert while my mother was alive, but he has declined physically, mentally, and emotionally since her death. He does not eat properly, has lost weight, and has several serious health problems. In addition, his short-term memory has severely deteriorated, and he often becomes disoriented. He refuses to even discuss an assisted living facility, so as a stopgap measure late last year we arranged for caregivers to come into the home for a couple hours three times a week. Early this year he fired them, claiming they were too expensive. He is stubborn, proud – and unaware of his changing circumstances. When I continue to press upon him the need for assistance, he becomes angry and defensive and says, “I don’t need any help!”

My mother was only 68 when she died. I had always assumed that she would be his caregiver someday, and that he would die first. Huntington’s disease reversed their roles and robbed them both of their “golden years.” Instead of trips and time with the grandchildren and friends, they struggled together with her decreasing ability to walk, talk, and eat. Slowly my mother became but a faint shadow of her once vital self.

Avoiding the lock-down

The social worker arranged for counselors to come to my father’s house to evaluate him. It was a Friday afternoon, and they would arrive at 10 a.m. on Monday. Because I was preparing to hire a geriatric care manager to keep watch on my dad and his health, I tried to negotiate with her to postpone the meeting for at least a few days. But she was adamant: she was concerned about my father’s safety. A lawyer urged us to “play along” with Adult Protective Services, because it has lots of “authority and clout.” I finally convinced her to hold the meeting at 3 p.m., when my sister and others could be present.

I learned that my dad could be in the hospital for as long as ten days. Worse yet, the geriatric psych ward was a so-called “lock-down” facility: he would not be allowed to leave. If they found him incompetent, he would go immediately to a nursing home or similar facility. Depending on the availability of beds, we might not even have a choice of location.

I feared a devastating shock to my father’s fragile emotional state. The first night of the crisis I stayed up until 2 a.m. on the computer researching the law and potential solutions to my dad’s plight.

That night I had a vivid dream in which my father – the man who had guided me through so many of life’s challenges – led me through a desert filled with vipers, a white bobcat, and other threatening animals. I in turn helped him navigate the same dangers.

Rallying the family

I considered flying home but, given the precious little time before the meeting, decided it was best to work the phones to rally family members (including a cousin who’s an attorney) and discuss the predicament with a geriatric care manager, who was already familiar with my dad’s situation.

My sister and five other people representing our family attended the evaluation. I believe that the show of solidarity with my father convinced the counselors that he did not need immediate hospitalization.

But there is no doubt that my father needs immediate help in many other ways. The counseling agency will arrange to spend several hours with him three times a week, and he will start getting Meals on Wheels. We need to stop him from driving and start making plans for an eventual move to an assisted living facility.

HD’s many victims

Like my dad, my sister and I are stoic about life and really good at denial, too. But we’re forced once again to stare Huntington’s disease in the eye. Instead of enjoying our father’s final years, we’re constantly reminded of my mother’s illness and his loving, heroic, and tragic attempts to deal with it. We see how sad and run-down he has become after the long fight against HD.

So we are victims too. My father’s episode reminds me of my own gene-positive status and the likelihood that I will follow in my mother’s footsteps. My sister, who is 46, is untested, and she and her husband wonder about the status of their sons. My wife stands by helplessly as she worries about me and what her own life will be like when my inevitable symptoms start and I can no longer be the dedicated father I have been to our daughter, now eight years old.

HD is more than a disease. It is a destroyer of families. And that is all the more reason why we must stop it.