The unending 'thank you'

Make no mistake about it, living at risk for a debilitating brain disorder like Huntington’s disease is a harrowing experience. During the past fourteen years, I learned of my mother’s diagnosis, tested positive for the disease, awaited the results from the testing of our daughter while still in the womb (she was negative), experienced rejection from relatives, saw my mother decline and die at a relatively early age (68), and wondered almost daily about when my own symptoms will start.

I often feel alone and hopeless.

But along the way some remarkable individuals from all walks of life have supported the fight to alleviate Huntington’s disease.

And that’s when I gain the strength and confidence to keep up my own individual fight to delay the onset of my symptoms and step up my activism for the Huntington’s Disease Society of America (HDSA).

Many of the people most devoted to the cause have no HD in their family. Some had never heard of Huntington’s disease before coming into contact with the HDSA through a fundraising event.

Support in times of tragedy

In the eleven and a half years that I have volunteered for HDSA, I have seen thousands of different individuals attend the dozens of fundraisers that our local chapter has put on, from go-kart races to sumptuous galas.

A couple of these events took place right after September 11, 2001. Despite the fear and anger gripping our nation, people still attended those events and made generous donations.

A year ago, when the national financial meltdown was leading many to speak of another Great Depression, our local chapter raised a record amount of money at our annual Celebration of Hope Gala.

I am always moved by such outpourings of solidarity and the human spirit.

Huntington’s disease shocks people when they learn of the devastating, dehumanizing symptoms that in the end leave people unable to walk, talk, and swallow. I am highly impressed that our supporters do not shy away from HD’s horrors.

It’s impossible to meet most of these people personally. Our chapter offers its thanks by publicly recognizing these individuals and their organizations on our website, in our newsletters, and in our event materials.

“Thank you” is a universal term uttered countless times each day, yet nobody grows tired of it. It’s a basic part of our humanity, of our mutual dependence.

In the struggle against HD – an orphan disease still unknown to most people and a huge stigma for many of those who have it – we know how much we depend on our supporters.

A personal thanks

Last Friday evening my wife and I did our small part in thanking one very special group of supporters: the HDSA-San Diego Board of Directors. We invited the board over to our house to enjoy snacks, drinks, and conversation around our brand new swimming pool. In part we built the pool so that I can keep in shape and perhaps delay the onset of symptoms or at least alleviate them (click here to read more). But we also wanted to share it with people like the dedicated and caring members of the board.

I have been a non-public member of this board since 1998 and have served on it longer than any current member.

In scores of meetings over the years, we have challenged one another to be more effective fundraisers, advocates, and supporters of the local HD support group and HDSA Center of Excellence for Family Services and Research at the University of California, San Diego. These meetings are among the most demanding, most important brainstorming sessions in which I have ever taken part.

We constantly ask ourselves the question: how do we bring greater attention to our cause?

The board members – most of them without HD in their families – attend some of the support group meetings to gain firsthand knowledge of the disease. They work many evenings and weekends planning our fundraising events and seeking sponsors and auction items. Their networking skills are superb. They visit the county hospital during the holidays to take gifts to HD patients. They tirelessly advocate for greater public awareness of HD, public investment in HD-related stem-cell research, and the passage of federal legislation to bring disability benefits more quickly to those stricken with the disease. They donate large sums, and they run in marathons and other races to bring in yet more money.

Not surprisingly, HDSA-San Diego has twice been named HDSA’s Chapter of the Year.

Working against time

Because board members know how desperately HD families need treatments and a cure, they waste no time.

In fact, the board works so fast and so consistently that it rarely has the opportunity to give itself credit for its many accomplishments.

In contrast with the board and support group meetings, our party provided some fun and relaxation, an opportunity for us to share more of our lives and thoughts without the relentless deadlines and the depressing realities of Huntington’s as our central focus.

It’s those awful realities that make the need for care of patients and the cure of the disease such an urgent task. With this board and our many supporters, as well as the many scientists whose research their efforts help fund, we have a team that can reach this goal.

And for that I write these words again: thank you.

In the midst of the hurricane

When I write about my experiences living at risk for Huntington’s disease, the themes usually hit me in the face.

But sometimes so much is happening that it all seems like a big jumble in my mind, as if a hurricane is passing by, threatening to fling heavy debris at me or to sweep me up in its powerful winds. When I get this feeling, I feel I must hunker down and concentrate on the essential aspects of life – such as survival and family – just as I once did while taking shelter in the interior bathroom of a condo during a real hurricane.

I started to get this feeling a couple weeks ago after talking to a young man who has begun to experience HD symptoms. He had moved to San Diego to seek assistance from the local chapter of the Huntington’s Disease Society of America (HDSA), and he had some ideas he wanted to share about a project.

A couple of people in the chapter tried to follow up with him but got no response. Finally, I decided to call.

Just 22 years old

“How are you?” I asked, trying to start of the conversation politely with a person I had never seen nor spoken to before.

“Not good,” he said.

“Do you have HD?” I asked.

“Yes. I just spent a week in the hospital because of psychiatric problems from my HD.”

He didn’t even tell me his idea for a chapter activity. It was now irrelevant because of his medical difficulties. He was leaving San Diego in a few days to return to his hometown in another state.

“There’s nobody here to take care of me,” he said. “I can’t take care of myself anymore, and my family back home is going to care for me.”

He was only 22. HD had cut him down at the start of his life, precisely at the moment when people dream of a better future for themselves and for the world, a time when most people feel invincible. Unless an effective treatment or cure is found, he likely will die before he is 40, after many grueling years as a witness to his own demise.

Wanting to reach out

I thought of how lucky I have been to have approached 50 without suffering any overt symptoms of Huntington’s. I wanted to spring into action immediately. I wanted to interview this young man and present his words and photograph to the blogosphere. I wanted to redouble my efforts to make sure that neither I nor anybody else faces the same fate.

The young man departed without me having a chance to follow up, and I turned my attention to other HDSA matters.

I especially needed to return to my reportage on the project that today provides the biggest ray of hope for the HD community: the research supported by the CHDI Foundation, Inc.

In preparation for an article on the CHDI drug pipeline, I have been reviewing the audio interviews that I recorded with CHDI researchers in Los Angeles on July 20 (click here to read my initial feelings about the visit).

Transcribing the future

These are not your ordinary interviews. A team of Ph.D.s in the sciences provided me with an overview of their efforts to stop HD. They stand at the cutting edge of science, and, if successful, their project would make history.

I need to get this right. I must understand these interviews with exactitude – for myself and for the many people in the HD community who do not yet know of CHDI’s efforts or have only a vague notion of the researchers' progress.

Transcribing an interview is painstaking; the process usually requires several hours of work per hour of recording. This has taken longer, as the scientists’ many technical terms and highly complex descriptions make the material almost like a foreign language.

I am also transcribing my future, for better or for worse. The disease processes described by the scientists are perhaps already devastating my brain cells and putting me on the same path as my mother, who died of HD in 2006 after losing the ability to walk, eat, and talk. And the treatments they are investigating could rescue me from the disease.

Like my difficult feelings about people with Huntington’s disease, all of this information puts more force into the emotional hurricane of my own life as gene-positive for HD. Like a hurricane’s destructiveness, the outcome is unpredictable.

Making vital connections

It’s vital to spread the word about CHDI and also about the activities of gene-positive people like me.

As Dr. Robert Pacifici, the chief scientific officer of CHDI Management, Inc., explained, the organization is building a database that will help build better connections between HD researchers and the broader scientific community.

CHDI also seeks to learn more about the behavioral patterns of patients and at-risk individuals.

In Dr. Pacifici’s words, the sharing of information allows researchers to leverage it for the benefit of finding a treatment or cure more quickly. Someone, somewhere, could make that eureka connection.

It’s so important for us in the HD community to make connections too – in this case, with the researchers, with the donors who support our cause, with people suffering other diseases, and, above all, with each other. In doing so, we can all help make that final big connection that will end this disease.

If I can find him, I want to talk to the 22-year-old man with HD again. He’s certainly been tossed about in his own emotional hurricane. He and so many others need a strong hand to help them make their own connections.

Imagining a world without Huntington's

Today I write with the raw emotion of a son on the verge of losing his father and yearning for a world without Huntington’s disease.

I want peace for him and for me. I fear for his life, and I wearily mourn his struggles to keep going in life against great odds during the last two decades.

My father, who turns 82 on October 1, broke his femur last Thursday, August 20, after he fell in his room at an assisted living facility back in my Midwestern hometown. Steadily losing weight and refusing to eat enough since he went into the facility last fall, today he was transferred from a hospital to a nursing home. In April he had suffered an apparent stroke that has left him unable to say more than a few phrases.

My father was a Huntington’s disease warrior, a flawed but courageous man who cared for my mother from the early 1990s until she went into a nursing home in mid-2005.

Painful memories

Now, like her, he needs a feeding tube to keep going. But the doctors fear that he would not survive the operation to implant the tube. According to his living will, he doesn’t want one anyway. About a year after my mother’s death from HD in February 2006, he gave up on life and started a downward spiral into dementia and immobility.

The bad news reminded me of the difficult decision he, my sister, and I made to decline a feeding tube for my mother and let her die under the care of hospice workers.

The past week I have felt as if I were drowning, unable to come up for air in a whirlpool of emotions sucking me down into my own eventual hell with Huntington’s disease. I tested positive ten years ago this summer and am now at the age where the onset of symptoms is typical.

I am angry and frustrated, because without HD life would be so different for me, my wife, and our nine-year-old daughter.

I know that I can’t blame all my difficulties on HD, but it has indubitably taken a massive toll on our ability to lead a normal life, with moments of calm.

Life is moving so fast, and with HD to worry about, it seems to race ahead even faster.

Fantasies of a better life

What would our lives be like without HD?

Like the phrase “imagining a world without Huntington’s,” which I put on the website that I manage for the San Diego chapter of the Huntington’s Disease Society of America, I spent a part of the last few days fantasizing about my family’s life in the absence of HD.

It seemed to be the only way to escape the overwhelming sadness.

My mother, who would be 71 years old today and on track to live close to 90 like her mother, is my father’s stalwart companion, keeping him active, optimistic, and loved as he heads for his mid-80s.

They travel together frequently. On their 50th anniversary in 2008, they realized a lifelong dream of visiting Europe. My dad took her to many of the places he saw as a young soldier in the 1950s, and they visited his father’s birthplace in Eastern Europe.

Gathering around the pool

Today they are gathered around our brand new swimming pool. My dad never learned to swim and was always afraid of the water, but we are going to coax him to try out the spa. He thoroughly enjoys shooting video of his granddaughter splashing in the pool.

My mom smiles beautifully as she plays with her granddaughter in the water. She was the swimmer in the family and took me to my first swimming lessons at the neighborhood pool. Grandma has taught her granddaughter how to sew, and tomorrow the two of them will join my wife to shop for maternity clothes at a local mall.

Yes, we finally decided to have that second child that my wife wanted for so long. Grandma and Grandpa are beaming with pride and already making plans for driving cross-country again just after the birth to help us out for a few months as they reside in our guest room.

They wanted us to have kids so badly, and now they can’t get enough of our daughter.

While the women are shopping, my dad and I will head for the driving range and knock around a few balls, just as we did when he first taught me how to swing a club in the backyard, making me the first kid golfer in the neighborhood.

I am barbecuing burgers the same way my parents used to on their gas grill during the humid Midwestern summers. We reminisce about how we used to top them with tomatoes just picked from my dad’s beloved garden.

Words of appreciation

After dinner we are going to look at family pictures and tell stories to our daughter, who is now so curious about her grandparents’ past.

While my wife puts her to bed, I am going to chat in the living room with them.

Tonight I especially want to tell them how much I appreciate what they did for me, raising me, tolerating me in my bad moments, helping put me through college. Only after becoming a parent myself did I come to have a true understanding of their importance and sacrifice.

It feels great to connect with them. Their lives are complete as the cycle of life continues. We even joke about their good chances of becoming great-grandparents….

It’s like one of those good dreams that seem so real, so inspiring, so perfect – but, for us, impossible.

Pondering an exit from the HD closet

Huntington’s disease forces gene-positive people like me to live many paradoxes. One of the most difficult involves the challenge of going public with my status, a challenge far more difficult than those faced by people with cancer, AIDS, and other devastating but more common and better-understood diseases.

To help end this deadly brain disorder, HD people and their families must come out of the closet to act as public advocates and participate in research experiments. But doing so carries the enormous risk of discrimination and profound misunderstanding at work, with insurance companies, and even within extended families such as my own, as I revealed last year.

Ever since I discovered in late 1995 that my mother had HD, I have hidden the fact from all but a handful of trusted friends and relatives. I have mainly feared discrimination at work and the potential loss of opportunities for a better job, as I have described in previous entries (click here to read more). Even though HD and other diseases are considered disabilities, the reality is that employers can often find a legal pretext for dismissing an individual expected to decline someday.

In my field, which involves writing and other demanding intellectual tasks, few people would want to risk hiring someone who tested positive for a brain disorder and had a 100-percent chance of developing it.

And once gene-positive status emerged, it could spread rapidly via the Internet.

Family concerns

I am also wary of exposing my family to the many challenges of living with a husband and father on his way out of the HD closet. My nine-year-old daughter knows her grandmother died of HD, but we have not yet told her about my status nor that she tested negative in the womb.

Recently I discussed with my wife how to continue this blog in the likely event that my symptoms prevented me from writing. I suggested that she and my daughter could post videos of me – to show the onset of symptoms and my struggle to overcome them – but she adamantly opposed the idea as an invasion of family privacy. She understandably sees the immediate burden on her and our daughter as outweighing the potential good for the cause.

I have frequently mulled over the process of coming out but have always pulled back. This has been a long struggle, and a very difficult one. It was especially painful to hide the real cause of my mother’s death from people at work or individuals who were curious but whom I did not trust.

She died of HD in 2006. I told these people that she died of respiratory difficulties. Most accepted this without questioning. One person, perhaps a bit of a busybody, wanted to know more details. When I refused to elaborate, he became testy. I felt annoyed and angry at this person, but also because of the need to brush him off.

Since then, nobody has touched on the subject. I know, however, that if I had revealed HD as the cause, people would have felt shocked. And many would sooner or later have learned that HD was a genetic condition with dangerous implications for me and my family.

A sheath of anonymity

I’m not the kind of person to seek sympathy, but at the time of my mother’s death I certainly needed it. I received support from readers of this blog and others who know about the existence of HD in my family. But by downplaying the death of my mother to those who didn’t know about HD, I denied myself access to the reservoir of human solidarity that people need in a time of grief, in this case multiplied by the devastation of HD and the threat to my own well-being.

I have hidden a crucial dimension of my life, and, as a result, feel distant from friends and co-workers. Sometimes I even get angry at them for not knowing, for not sharing the burden with me. It’s the human tendency to blame others for misfortune. This tangle of feelings makes it difficult for me to be myself.

My self-imposed sheath of anonymity inevitably involves an aspect of denial. By not revealing my status to others I feel safe, and I can avoid all of the painful feelings associated with explaining to people HD, its impact on my family, and the seemingly inevitable course ahead.

HD is not like cancer or AIDS or heart disease, where the mention of a single sentence or even just a word telegraphs a wealth of information. It is not only a little-known, orphan disease. It is a devastating, multi-symptom disease that requires a detailed explanation of its medical aspects and an even more detailed discussion of its social implications such as genetic testing and discrimination.

Trying to tell a friend

When I turned down a wonderful job offer two years ago because of the threat of HD to my family, I decided to start coming out of the closet gradually and carefully. I became involved in stem-cell advocacy here in California, and I started revealing to more people my gene-positive status and my authorship of this blog. During a recent visit to CHDI Management, Inc., which seeks treatments and a cure for HD, I was introduced as a gene-positive person to strangers for the very first time.

The other night I wanted to experiment yet further with coming out. I went to a coffee shop to chat with a friend I have known since 1987. A few years ago he went through a painful divorce, and now he faces financial troubles. He needed a shoulder to lean on and somebody to brainstorm with about his future.

In the days before our meeting, I built up the resolve to tell him about my struggle with HD. I too wanted to lean on someone who knew me long enough to be able to sympathize and even discuss with me a strategy for coming out locally, since we have so many common acquaintances.

I kept wondering, “How can I bring up a huge new problem out of the blue, one that I have hidden from him for more than a decade, especially when he’s going through a crisis of his own?”

We hadn’t seen each other in about a year, so it was a warm and heartfelt evening for both of us. I gave him some tips on landing some work, and I told him about some of my difficulties at work and even about the big job I turned down a couple of years ago.

A couple of times, when the conversation briefly paused, I thought of seizing on the moment.

Emotional paralysis

But I couldn’t. All I could do was make vague references to “other factors I’ll tell you about sometime” or “something I won’t get into now.” I’ve become so good at hiding my worries about HD that he had no inkling of the anxiety I was feeling.

I didn’t want HD to ruin our evening. And I felt very guilty about burdening my friend at a time when he’s struggling to pay the rent and buy groceries.

And I couldn’t find a way to talk about such a devastating situation when I currently do not have the overt symptoms of Huntington’s disease. I kept feeling that it would all seem so abstract and hypothetical in comparison to his predicament.

I felt this even though I knew that my situation is one of life and death.

But it is a death that would come very slowly, like my mother’s 20-year struggle with HD.

I felt emotionally paralyzed. It was easier to keep on my protective sheath.

No ritual for discussing HD

My terrible hesitation stemmed in part from the lack of a societal ritual for coming out about two conditions: the results of a genetic test and at-risk status for a neurological disorder. People are used to hearing about patients suffering from heart disease, cancer, or AIDS. Actress Farrah Fawcett shared her demise from cancer with the country by appearing in a reality TV show. Just a few days ago Secretary of State Hillary Clinton stood shoulder-to-shoulder with AIDS patients at a clinic in South Africa and helped once again to give the victims of that disease a public voice. People with AIDS were once enormously stigmatized.

But in the new era of the Human Genome Project and the burgeoning of neurological disorders such as Alzheimer’s, few people have yet to pioneer the act of coming out with HD and other similar conditions. Former First Lady Nancy Reagan came out with her husband’s Alzheimer’s, and actor Michael J. Fox went public about his battle against Parkinson’s. But these are exceptional cases.

For HD the situation is even worse, because its symptoms are more devastating. And since the death of Woody Guthrie in 1967, no famous American has come out with HD. Public understanding and our collective consciousness about these conditions are still at the level of a hush.

Over the years many television programs have portrayed people at risk for HD. In the current program House one female character wrestles with the decision to get tested and then struggles with being gene-positive.

This may signal that HD is moving closer to the mainstream, but TV is not reality. Real at-risk and gene-positive people don’t go public. Many hide their status just as I do. Many, many more won’t even get tested.

It could take years – if not decades – to change this situation.

Confiding in others

Around 11:30 p.m., my friend and I decided to say good-bye. Our friendship was renewed. We both had a sense that the conversation wasn’t over, and we agreed to meet again soon.

My friend, who is a highly capable and proud man, had confided a lot in me by sharing personal difficulties.

I believe that next time it’ll be easier to raise the subject of HD.

The time has also come for me to confide in others. I’ve already begun that process through this blog and my eleven years as an activist for the Huntington’s Disease Society of America. Now I’ll be taking my activism to a new level by personally speaking to more people about HD.

There are no guarantees of assistance or even sympathy. Indeed, coming out could backfire and bring serious consequences.

But each experience of coming out can only strengthen my courage and prepare me for the next one.

At the very least I will be increasing one by one the number of people who know about the challenge of Huntington’s disease. It’s time for the stigma about HD to end, enabling gene-positive people like me to speak openly and without fear.

Ten years after the test

Life goes in cycles, and so do our memories. Lately I’ve been thinking a lot about the tenth anniversary of when I tested positive for the genetic cause of Huntington’s disease.

Yesterday I felt the urgent need to write about what’s happened since that day in June 1999 when I learned the terrible news. Two days ago, on July 31, I received a private comment on my blog from a mother who just revealed her HD status to her nine-year-old daughter.

The girl, who has been watching her grandmother succumb to HD, asked if she too would fall ill. Her mom replied, “I don’t know.” Usually children are not tested for HD, so the daughter won’t be able to know her own status until she turns 18. The daughter also wanted to know if her mother would die. “I hope not any time soon,” she replied.

The mother’s cognitive symptoms – which are causing depression and affecting her temper – have already begun. This reminded me of another friend, in her forties, who had to quit her job and stop driving because of early HD symptoms.

This year I turn 50. By that age my mother, who died of HD in 2006 at the age of 68, was having the odd mood swings that frequently signal the full onset of the disease.

But I have yet to suffer its overt symptoms.

A crash in the dark

A deep sadness gripped me upon reading the mother's comments and exchanging e-mail messages with her. I told her that my own daughter – who is also nine – had tested negative for HD in the womb. The time is fast approaching when she will start to learn about my status. In January 2000 my wife and I broke into tears of joy when we learned she was negative. We will need to explain all of this to her and reassure her that she will not get HD like her grandmother.

Lately all of this is on my mind.

From time to time I lose my balance and have fallen to the ground on several occasions.

During the early morning hours of yesterday, after getting up to go to the bathroom, I suddenly became disoriented and couldn’t find my way back to bed. I seemed to have blacked out or gone sleep-walking.

I usually put my hand on the wall to guide me in the dark, but this time I could not find it. I instead hit the mirror of the sliding door of a long closet and went flailing and crashing down to floor, knocking a picture off another wall, hitting a night stand with my arm, and breaking the frame of another picture.

Luckily, except for a scraped arm, I am okay. My wife, who had fallen asleep in another room watching TV, awoke thinking that a burglar had entered the home.

Could I, too, be experiencing the first overt symptoms? My mother fell a lot during her battle with HD, especially in the last few years of her life. Once she broke a wrist. Another time she needed staples to close a head wound. In the final months she was confined to a wheelchair.

Or am I just getting older and need to install a night light in the bedroom?

Or – as I think most likely – was my bedroom accident a psychological response to the woman’s plight and the future discussions I will have with my daughter?

Avoiding onset

I cannot foretell tomorrow. But, despite this incident, my current lack of overt symptoms might indicate that the genetic defect is affecting me differently than it did my mother. Maybe, I fervently hope, my onset will occur much later.

I count every day of good health as a blessing and an opportunity.

I have the same degree of mutation in my gene as my mother, and it is the degree that generally determines the age of onset. That’s why HD strikes people ranging in age from young children to the elderly, with the most common age of onset ranging from 35 to 55.

Thus, according to standard research on HD, I am likely to develop symptoms soon.

But other factors, as yet undiscovered, could affect onset. Scientists believe that a so-called modifier gene, or genes, could influence the way the defective gene huntingtin operates. Researchers have been searching for the modifier for several years. If discovered, a modifier could become another predictor of age of onset, with a genetic test similar to the one I underwent.

Different levels of preparation

My mother was the first known person with HD in our family. It came as a complete surprise, and she therefore had no way to prepare for it. I was almost 36 when I received the news of her illness and have tried to care for my health conscientiously. A good diet, regular exercise, avoidance of stress, and psychotherapy all became part of my medical kit against Huntington’s. I have also participated frequently in the local Huntington’s disease support group, a major source of comfort and solidarity for our community.

I take the Huntington’s Disease Drug Works-recommended cocktail of supplements (the sugar trehalose, coenzyme Q-10, omega-3 fish oil pills, blueberry concentrate, and creatine). Scientists are examining these substances as possible treatments to alleviate symptoms or stave them off.

Anecdotal evidence suggests that HD people with poor habits such as heavy drinking get sick earlier. Some in the HD community have also commented that traumas such as car accidents and operations can cause onset or lead patients into a sudden, deep decline. In late 2007 and early 2008 I faced a decision about an operation. I had an extremely painful anal fissure and, wanting to avoid the possible trauma of surgery, first tried another treatment for a couple of months before finally opting for the operation (click here to read more).

A positive attitude

I believe that a positive attitude has also kept me stable. Since 1998 I have worked as a volunteer activist for the Huntington’s Disease Society of America, and for almost five years I have blogged on living at risk.

My wife has given her love and unconditional support. Although she does not yet know my status, my daughter is aware of HD and my activism. My devotion to them helps me keep a healthy balance among work, activism, and family life, and their love provides an incalculable emotional boost.

This blog is a catharsis that helps keep me focused and sane. I’m producing a record of my struggle with HD and the larger movement to care for HD families and find treatments and a cure. I can vent my feelings and share them with a wider community.

I am also very fortunate that a journalist friend – who inspired me to start this blog – reads every entry, assists with editing, and, most important, helps to deepen and clarify my message. I have come to depend on his selfless dedication. Familiar with the disease long before I ever heard of it, he has become my Huntington’s alter ego.

Knowing that he and others are reading about my thoughts and feelings provides another enormous boost to my morale.

I stay informed about potential treatments, sign up for experiments (click here to read more), and strive to understand the many scientific discoveries about the disease. One old pharmacist friend from the local support group – who became symptomatic only in her early 60s and who still remains lucid – is convinced that understanding the disease is a factor in delaying onset.

My life’s calling

My dedication to the campaign against Huntington’s connects me to the “big picture” of the human struggle for a better life for all. I am exercising leadership in ways I never imagined. To speak out at support group, to respond to an e-mail from someone in distress about Huntington’s, to help jump-start stem-cell advocacy in California, to report on the scientists who are working hard on treatments – all of these kinds of activities bring me deep satisfaction.

I feel that I have found my life’s calling. If I follow in my mother’s footsteps and become disabled by HD, I will have fought to the best of my ability to care for myself and to make others aware of the urgent need to end HD's devastation.

Yesterday morning, upon remembering my crash in the night, I wanted to forget HD. But when I thought of the HD-stricken mother and her daughter – and then my own daughter – I knew that I needed to write down my feelings and prepare for another day in the fight. Whatever the reason for my current lack of overt symptoms, I have the opportunity to play a part in the historic effort to eliminate one of the world’s cruelest diseases.

A new attitude about Huntington’s disease

The words come like a slap in the face: I already have Huntington’s disease.

Even though I do not yet have the classic, overt symptoms of the disease such as shaking limbs, slurred speech, and decreased mental capacity, the fact that I inherited the genetic defect for HD from my mother means that my brain cells have already been compromised.

This is the new way that Huntington’s disease must be seen by patients, physicians, researchers, and public agencies, according to Robi Blumenstein, the president of CHDI Management, Inc., the firm that carries out the CHDI Foundation’s quest for treatments and a cure. (CHDI once stood for “Cure Huntington’s Disease Initiative,” but today is simply the name of the two organizations.)

Advances in scientific understanding of HD – including its early, subtle signs – have wiped out the old paradigm of classifying individuals as gene-positive but asymptomatic. The symptoms are already there on the cellular level, even if they don’t seem to affect daily life.

I visited CHDI’s Los Angeles research office on July 20 to meet Robi, staff members, and several of the many full-time researchers who are focusing exclusively on designing potential drugs to combat Huntington’s.

(This is the first in a series of entries on CHDI that will focus on this drug-discovery organization and its potential pipeline of Huntington’s treatments. The many possibilities in that pipeline reflect how HD attacks cells and the brain on many fronts.)

Personal feelings and our cause

Robi, who has read my blog for years and always thought of me as “Gene Veritas,” met me in person for the first time. Although I did not think of myself any differently, I at first felt awkward because I could see that Robi was suddenly absorbing myriads of new information about a person he had known only through an online pseudonym.

I had a similarly unnerving feeling when Robi, in introducing me to others, stated right off that I was gene-positive. I had never been introduced as such, and I could feel my good old friend denial wanting to split off my “Gene Veritas” identity and kick it out of the room. By visiting CHDI, I was taking a definitive step towards being more open about my HD status and more public in advocating the cause to eradicate the disease.

These personal feelings transcended my own individual predicament. Robi and I immediately launched into a discussion about how the world sees HD and why it’s all-important to galvanize people – especially in the HD community itself – to join the cause. Fear, ignorance, denial, courage, dedication, and the plethora of other reactions of HD families all complicate the decision engage in HD activism.

Robi, CHDI, and others in the HD community worry that potential treatments could start flowing out of the pipeline, but a shortage of participants in clinical trials and the lack of imagination of some trial administrators could prevent new drugs from getting properly tested and ultimately approved. (I had written about this topic on July 14.)

Seeking to inspire people

How, we asked ourselves, could we inform the community that researchers’ new view of HD has redefined how the disease should be dealt with by affected families? What would inspire people to become more active?

CHDI itself has been somewhat of a mystery to the HD community, even though last year it had a budget of $80 million, making it by far the largest non-governmental concern working on treatments for HD. Focused purely on science and drug discovery, CHDI has quietly gone about its work with the support of a donor who, like so many of us in the HD community, prefers to remain anonymous.

But because of the need to engage with HD families, CHDI needs to communicate better, as does the traditional Huntington’s Disease Society of America (HDSA), in which I have been an activist since 1998.

Increased knowledge about HD and how to measure its early stages have opened up the possibility of new drugs, and this in turn requires new ways to measure these drugs’ impact. MRI scans, for example, can show major changes in the brain of HD people many years before the classic symptoms appear. Similarly, scientists believe that early stages of the disease affect the sense of smell and certain fine motor skills.

Time to change attitudes

The medical community used to tell gene-positive people to take good care of their general health and simply hope the symptoms would appear late in life. For these people life is a time bomb. Individuals like my own sister, who has not been tested for HD and is in deep denial about the disease, say there is nothing they should do because there are no treatments. (Click here to read more about my extended family’s reactions to Huntington’s disease.) In fact, most at-risk people refuse testing.

The new HD paradigm, however, will require a big shift in attitudes, if we are to be ready for the treatments that CHDI and others are aiming to produce.

Robi described a simple but extremely important example of a time-honored test neurologists use to check Huntington’s patients’ motor skills. At the direction of the doctor the patient taps his or her index finger and thumb together rapidly. Early on people with HD lose the ability to perform this function.

One or more potential drugs against HD might prevent the loss of this capability, with the drugs' effectiveness measured through this simple test. But, as Robi pointed out, people in the medical and research community with traditional views of drug development might dismiss a treatment for something so seemingly unimportant if they do not clearly understand its importance as an indicator of neurological damage.

Get thee to a clinic

Everybody in the HD community – both the tested and the untested – should visit one of the 22 HDSA Centers of Excellence or other neurological clinics to be examined on a regular basis and to participate in the long-term studies that track the impact of the disease. People also should learn about clinical trials in their area. Centers of Excellence are a good source of information, as is the website HD Trials.

It is also time for new attitudes about genetic testing. For too long, people have avoided testing, fearing a potential death sentence. HD families must see testing as a way to connect with the effort to treat the disease and find a cure.

When scientists discovered the HD gene in 1993, nobody could yet speak of a drug pipeline. Today that pipeline exists with a large number of so-called drug targets, potential ways of alleviating and perhaps even stopping the disease.

Tested individuals are an important piece of evidence in the HD puzzle – not only for this generation but the next. Rather than a burden, testing can be seen as a step toward contributing to the greater good and the reaffirmation of life.

Getting tested requires great courage. But everybody has the potential to stir up that courage.

Going public

HD families must become more public, at the very least within our community. I have attended dozens of local fundraisers and other events over the years. These events are for the benefit of our families and HD people. But how many HD people and their families actually attend? Very few!

It’s not easy to get out of the house while suffering from HD. I know it’s difficult, because I had to help my own mother, who died of HD in 2006 at the age of 68, get in and out of cars, wheelchairs, and bathroom stalls.

But it’s not impossible. Centers of Excellence, support groups, caregiver resource centers, and other agencies offer strategies for keeping HD people mobile. Families can also consult the many books on caregiving such as Lessons from the Ancients: A Humorously Helpful Guide for Caregiving, by veteran HDSA activist Jim Calhoun.

HD families should become involved in support groups, the governing boards of local chapters, fundraising, and advocacy.

HDSA is supporting House Bill 678, which would end the standard two-year waiting period for disabled HD people to receive government benefits (click here to read more about the bill). Ask your congressional representative to co-sponsor this bill.

People can also tell their stories to the local media, via blogs, and on the websites of local chapters and organizations such as the Huntington’s Disease Advocacy Center.

As one leading HD activist put it recently at an HDSA support group, if we won’t help ourselves and speak out, why should anybody else care about us?

HD families need to press the flesh more often – within the community and in public. As painful as it may be, we also need to remind family members who are in deep denial that they can make a difference.

Strength in numbers

My own feelings and experience parallel what has happened in the HD community since the discovery of the gene in 1993 and the resultant promise of treatments and a cure.

I have struggled to strike a balance between the need to build public awareness about HD and the impulse to remain anonymous and shield myself, my career, and my family from the terrible prejudices, job worries, and insurance nightmares that surround Huntington’s and other neurological diseases.

Now we in the HD community have reached a critical juncture. With the hope of treatments and a cure, the time has come to speak out and build strength in numbers.

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.