Feel the love: a family faces juvenile Huntington’s disease

I could feel the love flowing in the Leach family for 12-year-old Terry, who struggles against the ravages of juvenile Huntington’s disease. (Click here to read my article about Terry.)

During my visit to the family on November 27, I watched big brother Charles, 18, pick up Terry and carry him from one room to another.

I heard how little brother Richard, 9, helps Terry put on his socks every morning and prepares his bowl of cereal.

I listened intently to Jennie, his 17-year-old sister, who wheels him out to the school bus at the start of each day. She is a virtual repository of profound observations about Terry’s daily fight to live with a disease that has afflicted him since infancy, stopped him from walking and talking, and, medical statistics suggest, reduced his life expectancy to fewer than 20 years.

I sat next to Angela, Terry’s mom, as she leafed through a massive binder of her handwritten notes and official medical reports on his condition, including the document revealing the results of Terry’s positive genetic test for Huntington’s. She works full-time, takes Terry to his frequent doctor’s appointments, and holds together a family whose HD-stricken father departed for another state after he left a legacy of an HD-affected son and increasingly aggressive, disruptive behavior.

And I conversed with Terry, who understood all of my questions and responded by tapping letters and symbols on a special touch-screen computer that translated his commands into words and sentences. I perused his report cards, filled with A’s, and I held the beautiful Mother’s Day card that he made for Angela by painting flower petals with his thumb print.

The Leaches: Jennie and Charles (standing)and Richard (left), Angela, and Terry (photo by Gene Veritas)

An important lesson

On that day I learned a very important lesson about Huntington’s disease, a lesson I had failed to fully comprehend about my own mother, who died of HD in February of 2006: no matter how fateful HD’s symptoms, the inner mind of an HD person remains vibrant.

Many people react to Huntington’s people by turning away, figuratively or literally. At times I could not bear to countenance my own mother – she was a “genetic mirror” reflecting my own likely future. I have written frequently about HD’s dehumanization of people and its destruction of families.

But Terry and his family drew me into their lives and showed me the great reservoir of humanity to be found in this predicament – especially if love is not forgotten.

And Terry’s eyes show the spark of desire to live life to the fullest.

Family sacrifices

Terry’s family badly wants him to have that life. They have made great sacrifices.

Because of a demanding schedule centered on Terry, for years Angela had to postpone involving Richard in after-school activities. “Richard did football for the first time this last season, and it was tough,” she told me. “Now I know why I shied away from doing things like that with him.”

Terry’s younger brother is one of his caregivers. “He’s grown up a lot,” Jennie said. “He’s nine years old but he acts like an adult.”

I asked Angela about her hopes for Terry and the pressures of being a caregiver.

“To provide him with the best-quality life that I can,” she replied.

“I’m going back to school to study accounting. I hope it can help me focus my energy on something good. Sometimes I feel helpless. As much as I can do for him or anybody can do for him, it doesn’t feel like it’s helping him in the long run. I worry about the future.”

Togetherness

After my interview with the family, they agreed to shoot a short video with a holiday greeting. At first Angela was nervous and at a loss for words, but after a few takes everybody finally got it right. Watching them through the eyepiece, I was moved by their strength, togetherness, sense of humor, and spirit.

As I prepared to leave, I told Angela that my mother had died and that I am gene-positive for Huntington’s. She had revealed to me that Richard had tested negative, and I shared with her that my daughter – the same age as Richard – is also negative. (Charles and Jennie are from a previous marriage and are not at risk.)

“We’re all in this together,” I told Angela.

Terry’s example

I always tell my daughter a bedtime story. On the night of November 30, after an evening of family frictions resulting from her complaints about fourth-grade schoolwork and not enough play time, I resolved to tell her about Terry and his struggle against the worst of odds.

“Many people have a much tougher life than you,” I told her. “But they don’t give up.”

My daughter knows that I am a Huntington’s activist, but not about my gene-positive status. It was the first time that I used a Huntington’s story to teach her about life. Two days later she asked to see the pictures I took of Terry, and we talked some more about his predicament. She read my article on Terry – the first time she has read something I've written about HD – and watched me place the piece and my photos on the web.

Soon she’ll learn about my own genetic truth.

The Leach family will undoubtedly serve as an important reference point – not only for her, but for many families facing Huntington’s and other devastating neurological diseases.

Smelling the flowers at Thanksgiving

Thanksgiving is a time to slow down and reflect on all the good in our lives.

As I wonder about when I will follow in my deceased mother’s footsteps and develop Huntington’s disease, one thing I am most grateful for is the opportunity to spend time with my nine-year-old daughter.

She is our “miracle baby”; she tested negative for HD while still in the womb.

One of the keys to life – and especially to living with a gene-positive status for a devastating brain disease – is seizing the moment. Each moment is unique and will not return.

We must smell the roses – but also appreciate many other kinds of lovely scents and scenes nature and our lives have to offer.

One recent afternoon I decided to surprise my daughter by taking her to the San Diego Botanic Garden. The pictures you see here are hers.

My daughter loves seeds and plants. Shortly after she started to walk, at around ten months, I started to take her to a local park. There she discovered all kinds of plant parts to collect. I was her assistant. She learned to make “soup” with these interesting ingredients. Often we had to bring everything home for her to keep.

Two years ago I helped her with her first science fair project. She planted seeds and measured and graphed the growth rate of several species. This past year she studied pollution flowing into the Tijuana Estuary and the Pacific Ocean.



These days we still bring home sticks, pine cones, petals, and her beloved seeds.

I sometimes tell her she’s going to be a botanist.

For many years, my wife and I didn't talk about our daughter’s genetic test. After worrying so much about HD’s impact in so many aspects of our lives, we wanted to enjoy her without the disease’s ugly possibilities marring the one area of our life that was normal.

Lately, though, as she has matured, the consequences of our decision to have her tested have become powerfully present. She is free from HD.

A couple days ago my wife recalled how, before the genetic test, she had often felt the baby’s kicks and wondered whether we would continue with the pregnancy. Had she tested positive, we would have contemplated an abortion, which we oppose on moral grounds but recognize as necessary in some cases.



Now, as she flowers like the beautiful plants that she loves to photograph, our daughter will soon start learning about her father’s gene-positive status.

Perhaps her budding interest in nature will help her comprehend and accept my own biological reality.

But that story is for another day. For now, I want to enjoy her photographs and her own beautiful life.

No time for fear

Knowing that I will almost certainly develop a devastating brain disease, how do I deal with fear?

A good friend posed that question to me on the afternoon of Halloween. He called just as I was settling down into my comfortable recliner to relax a bit and watch some television before my daughter, accompanied by my wife, went out trick-or-treating and I prepared to man the front door.

I can’t remember anyone ever asking me that question so bluntly in the ten years since I tested positive for Huntington’s disease.

The question took on special urgency, because my friend, who had nearly died of lymphoma in the 1990s, would find out in a couple of days whether his recurring symptoms, including intense headaches, signaled a return of his cancer. His anxiety had become unbearable, and he needed help.

Many strategies

For an hour and a half I described some of the strategies I had employed over the years to confront my many worries about Huntington’s: working with a psychotherapist, taking various drugs for anxiety and depression, and reading the book Don’t Sweat the Small Stuff … and it’s all small stuff as well as some writings by the Vietnamese Buddhist Thich Nhat Hanh. I also try to exercise, live in the moment, and to connect with my spiritual dimension, for example, by attending Mass.

I spent most of the time explaining the positive and negative reactions I had to different medicines and how it had taken me years, with the help of my therapist and several psychiatrists, to find a combination that kept me emotionally stable.

I also emphasized the importance of building a trusting, long-term relationship with a therapist – a person I can call upon to discuss difficult feelings and help me maintain stability. I like to refer to my therapist as my “mind coach.”

Personal trainer for the mind

“Doesn’t LaDainian Tomlinson have a personal trainer?” I asked my friend, a big football fan, in referring to the star running back of our local team, the San Diego Chargers.

“Sure!” he replied.

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

Paralyzing memories

When I hung up, however, I felt distraught. I was deeply worried that my friend’s cancer had returned and that he might die.

And I was faced once again with my gene-positive status for Huntington’s. I found it especially troubling to recall the last weeks of my mother’s life, when, seeing her completely debilitated by HD, I felt as if I were looking into a genetic mirror – my own future as a Huntington’s patient unable to walk, talk, or even swallow. After she died in February 2006, it took me months of mourning and a new combination of drugs to stop the panic attacks I was suffering, bowing down low, over and over, mimicking my mother’s symptoms (click here to read more).

I immediately took down some notes, thinking that I would blog in the next day or two on the subject of dealing with fear.

But the memories of my own deepest fears emotionally paralyzed me, and I decided to wait.

No “magic bullet” for fear

It also struck me that I hadn’t really answered my friend’s question. I had described to him my coping mechanisms, but I hadn’t even scratched the surface of my feelings about HD.

My friend has read much of this blog over the years, so he had a general idea of my struggles in living at risk. But even in writing more than 50 posts over nearly five years, I still hadn’t fully described for my readers – or for myself – how I was confronting my gene-positive status.

The more I thought about it, the more I concluded that I had no single, simple answer for “dealing with fear.”

Some excerpts from my notes reveal the jumble of thoughts that came to mind and the lack of a “magic bullet” for overcoming fear:

Wife. Distractions…. Finding right pills…. Deep breathing. Letting water run on my head in shower. Spirituality, attending church, thinking about the larger questions of humanity. Feeling part of the HD movement. Sharing with others. The blog…. Exercise, swimming, walks. Work as a distraction. Denial…. Hope for treatments, research. Pretending I’m immortal. Remembering how at age five I decided I would never die. Pretending that it’s all a bad dream. Pretending that I’m a child again. Focusing on [my daughter] and her development. Many times I tell myself that I will beat the disease.

Every reminder of HD – and they come at least once each day – leads me to select one or more of these strategies.

Making sense of the struggle

Next month will mark 14 years since I learned that my mother had HD. In retrospect, I have fought hard to stay healthy, stable, upbeat, and, as an activist for the local chapter of the Huntington’s Disease Society of America (HDSA), engaged in the campaign for treatments and a cure.

My friend’s question about “dealing with fear” forced me to analyze once again my quest for survival. Fortunately, his cancer test results came back negative. But his own deep fears, and a bit of my advice, have prompted him to take greater care of his emotional health as he continues to live at risk for lymphoma.

In my case, I now see more clearly that I have conscientiously strived to devise my own unique strategies for confronting fear and to construct a network of human support via my family, friends, and HDSA.

Constructively confronting fear

So how have I dealt with fear? As I live at risk for Huntington’s disease, fear shadows me constantly. But I know the fear of HD well – so well, in fact, that dealing with it is now part of the routine of life. I try as much as possible to keep it in perspective and not allow it to stop me from focusing on my family and my activism.

I have constructively confronted fear. And this is a daily task.

It struck me that, as Jackson Browne put it in his song “The Pretender,” in the evening I lay my body down, “and when the morning light comes streaming in, I’ll get up and do it again. Amen.”

These past few days I have perceived yet another facet of living at risk for Huntington’s disease.

“I have no time for fear,” I concluded. Acknowledge it and move on.

Creating hope

Living at risk for Huntington’s disease frequently leaves me emotionally drained. Sometimes I fantasize that it’s all just a nightmare from which I’m about to wake up. Other times I wish I were a different person with just normal worries, free from thoughts of suffering and death.

I discovered that my mother had Huntington’s in 1995. I tested positive for the disease in 1999. I attended her funeral in 2006. This year, on October 4, I held a memorial service for my father, the Huntington’s disease caregiver-warrior who gave up on life not long after her death.

It would be a vast understatement to say that the last few years have been difficult. Life in the Huntington’s disease trenches brings a steady barrage of troubling thoughts resulting from the death of loved ones, abandoned dreams, and the underlying worry about when my own symptoms will start and how my wife, daughter, and I will cope.

But at the core of the human spirit lies hope. Each day I must summon that hope. As an activist for the Huntington’s Disease Society of America (HDSA) and at-risk blogger, I have met this challenge for more than eleven years.

Acting and living hope

I have learned that hope is not just a feeling, nor fantasies about a better life, nor a fervent prayer for the cure of HD – it's action.

I can’t just feel hope. I must live hope.

As I wrote in my previous entry (click here to read more), my HD activism has become the center of my life and transformed me as person.

Understanding the research

When I research and write about the efforts to find treatments and a cure, I am building hope. The potentially most significant effort at controlling HD happens to be occurring just a few miles from my home, at Isis Pharmaceuticals, Inc., in Carlsbad, California (click here to read my report). In 2011, Isis scientists hope to begin the first human tests of a drug that would halt HD at its genetic roots.

I visited Isis last year and again this past July to interview the scientists involved in the research and shoot photographs of their work. Incredibly, the Isis project, which is funded by the Los Angeles-based CHDI Foundation, Inc., is still relatively unknown in the HD community.

I believe deeply in the need to understand and monitor this project. The privilege of meeting and understanding the work of these individuals gives me at least some sense of control over my own destiny. I want to know exactly how this disease works – and exactly how the potential Isis drug might work like a soldier within my brain cells to defend them against the ravages wrought by my mutated huntingtin gene as it generates handicapped proteins.

Electrifying news

Several years ago I described how watching my mother struggle with her symptoms was like looking into a “genetic mirror” (click here to read more). I had inherited my defective huntingin gene from her and would likely develop the disease around the same time she had – in her late forties and early fifties.

I turn 50 this year. As Isis and many other projects explore the intricacies of HD-affected cells and seek solutions for the disease, I gaze into another kind of genetic mirror: a model of my own compromised cells.

Not long ago people thought that the Isis approach might be feasible around the year 2025. Back then every other possibility of a treatment seemed at best partial, both limited in its potential effectiveness and quite distant in the future. (Click here to read about my “ups and downs” in waiting for a cure.)

The first news about Isis two years ago came to me like a lightning bolt, and I want to keep passing on that electrifying feeling to everybody else in the HD community and beyond. Although nobody can guarantee that a potential Isis solution will actually work, I want my articles on Isis to generate excitement and hope.

Excitement and confidence

Now I am preparing a series of articles on CHDI, which has become the prime mover in HD drug discovery with a budget last year of $80 million. In a nutshell, CHDI is like a miniature Manhattan Project to stop HD. The researchers’ excitement and confidence are palpable.

I had a similar feeling on September 28, when Dr. Jody Corey-Bloom, the director of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego, revealed a plethora of approaches for HD treatments during her annual research update to the local HD support group.

One of the most inspiring HD presentations that I have seen, Dr. Corey-Bloom’s report is a “must see” for everybody. I posted it online the next day.

At the ninth annual HDSA Celebration of Hope Gala in San Diego on October 17, the master of ceremonies, ESPN Monday Night Football anchor Mike Tirico, briefly described the Isis project to the 500-strong audience and congratulated the company on its efforts. Events like HDSA-San Diego’s “In the Huddle” mainly focus on fun and fundraising, but the mention of Isis allowed the science to shine through for a moment (click here to watch the video I shot).

That moment became possible thanks to CHDI’s generous backer and the many scores of HDSA fundraisers of all sorts and sizes held across the country in recent years. They have kept the money flowing into the labs, where scientists are hard at work on treatments and a cure.

We in the HD community surely need a big shot of confidence after so many decades of discrimination, ignorance, and lack of progress in the search for treatments.

Hugging HD-affected friends

I always come away from the gala emotionally wired. To see an important part of the local community – including the president, coaches, and many players of the very generous San Diego Chargers NFL football team – rally to our cause is a great confidence-builder for our local HDSA chapter.

At the gala I also encounter families affected by HD. I hugged two of my oldest friends from the at-risk section of our support group. Both of them are now symptomatic and have left their jobs. But they have fought every step of the way to minimize the impact of their symptoms and to galvanize others into supporting our cause.

Sharon just contributed an article to the HDSA-San Diego website about the 2010 Race Across America, in which her husband and three other men will for the third time cross the country by bike in just eight days or less! (Click here to read more.)

Julie simply inspires me. We forged a friendship outside of support group, and every year my family and I look forward to the holiday cards she designs with one of her beautiful paintings on the cover. A few years ago, before her symptoms started, Julie fought and beat breast cancer. Although she has lost some of her stability and had to lean on her husband during the dinner, we conversed normally. I was glad to hear that she is at work on yet another painting.

The mystery of solidarity

Hugging these sisters in Huntington’s disease is a deeply moving and mysterious experience. It inevitably reminds me of my mother, but it is much more than that.

We know one another so profoundly because of the genetic defect we share and all of the sadness, loss, and discrimination that have resulted from that fact. I feel sorrow for them as their symptoms progress. (I’ve heard Sharon say that she’s not worried about herself, but about the future of her two teenage daughters.) And I know that they fear for me and my family as we worry about my health.

But I also gain strength in watching them persevere. By sharing our experiences and building solidarity, we once again create hope for ourselves and for the HD community.

Spiking adrenalin

Less than 72 hours after the dinner I was scheduled to undergo my annual checkup at the Center of Excellence. I started getting informal checkups around eight years ago. I could do this because the people at the center knew me from my work for HDSA. I wanted to keep HD out of my official medical record, because of my very real concerns about potential discrimination.

Four years ago, however, I decided to become an official patient so that I could go through the full, formal workup all HD patients get on a periodic basis. I wanted to make sure I'd get the best possible monitoring of my health and the best advice on how to care for myself. Luckily, the Center of Excellence is separate from my health plan, so my confidentiality is protected.

I awoke at 4 a.m. on October 20, an hour and a half before my usual time and with my adrenalin already spiking. It was going to be a long day at work before the 3:30 p.m. appointment at the clinic. I wrote in my blog notes: “HD clinic today – yet one more reminder that I could get very sick! How many times do I need to be reminded?!”

When no change is good

Because I had recently gone through numerous batteries of neuropsychological tests for HD research experiments and done well, I entered the consultation room confident that I could repeat my good performance. I successfully carried out the tests administered by an assistant.

The doctor gently shook one of my hands up and down in his hand while asking me to draw a circle in the air with my other hand. He had me look up, down, left, and right without moving my head. He checked my reflexes, and he had me stand still while he pushed me hard from the back to see if I could maintain my balance. Finally, he had me walk down the hallway and then return on a straight line in the same way that a cop checks a suspected drunk driver.

The doctor supplemented these observations with questions about other aspects of my health and a general conversation about my life, my work, and my HDSA activism. He also reviewed the notes from past visits.

The doctor had personally examined me on past visits. (Last year I had been assigned a relatively inexperienced resident who mechanically performed the examination and did not appear to have the more holistic approach that this doctor had acquired, so I firmly insisted that I get to see him too.) “I see no change over the past four years,” he concluded.

In an era when Barack Obama made the word “change” a great national slogan, the phrase “no change” provided great relief. I had survived another year without any apparent overt symptoms of HD. Those symptoms could start at any moment and carry me down quickly, as I saw in the case of my mother and many other HD patients. But for now, at least, I can continue to function normally, enjoy my family, and carry on with my advocacy.

I had worked diligently over the past year to get to this point in stable health. Once again, with the assistance of the Center of Excellence, I had created hope.

Another side to HD

Shortly after I, in deep pain, wrote about my father's death, Dr. Martha Nance, the director of the Minneapolis Center of Excellence, sent me an article that she had just written and titled “The other side of a dark disease." Two days ago, I finally had a chance to read it.

“There is another side to HD … which needs to be told – a story of beauty, courage, engagement and inspiration,” she wrote.

Dr. Nance recounts the valiant actions of children coming to the aid of their HD-affected parents, communities creating fundraisers and rallying around families touched by the disease, and old high school buddies and rivals joining to help care for a former classmate who has HD.

“As it passes from generation to generation, HD insinuates itself into the fabric and history of a family and community,” Dr. Nance concluded. “I have heard many stories of sadness, scorn, and hopelessness among my patients. But I hope that these tales of humanity and generosity will serve as a reminder that families, friends, and communities have the potential to do great good – and that the goodness, in turn, will rub off on others in ways that we may never know.”

Because a few people fearlessly stepped forward to assist people with HD and raise awareness, thousands learned about the disease and became an extended community of caregivers.

That, too, is how we can live hope and create it anew each day.

My new profession: HD activist

The threat of Huntington’s disease in a gene-positive person’s life cuts down many hopes and dreams, including the drive for professional success.

In the ten years since I tested positive for the genetic defect, I have steadily diminished both my considerable career ambitions and my commitment to my profession, which requires substantial intellectual commitment.

I joined the board of the San Diego chapter of the Huntington’s Disease Society of America (HDSA) in 1998. From 2001 to 2007 I researched, wrote, edited, and laid out our tri-annual newsletter.

On average I spent about six weeks a year working on the three issues. I interviewed many people in the local HD community and encouraged others to write about their stories. The most intensive period of work would start on a Friday evening and extend through twelve-hour Saturdays and Sundays, during which I came out of my home office only to eat or briefly say hello to my wife and daughter.

Friday night folding parties

Many a time I drove the diskette or CD to the printer, troubleshot last-minute problems, and drove around with boxes of newsletters in the trunk of my car. In the early years, before we employed a print shop that automatically folded the newsletters, our board held Friday night “folding parties.”

We’d sit or stand around a table and fold the 1,500 or so copies. Then we had to stick address labels on them and sort them into boxes by zip code so that the post office would give us the non-profit bulk rate.

My wife helped out, as did our toddler daughter. I remember her sitting on the floor with newsletters in front of her. It was one of her first experiences of contact with people outside the immediate family. I was proud of her, and I always felt happy and relieved to know that she had tested negative for HD while in the womb.

Running the website

I designed and implemented our very first website in early 2002, a do-it-yourself project on Tripod.com. Shortly thereafter a local company, Lawinfo.com, generously donated the services of a professional designer, and we were off and running with online communications.

That site soon needed a serious revamping and, in late 2007 we haltingly began the project. The work became intense in the second half of 2008, when another board member and I researched companies and interviewed their representatives. Thanks to my board colleague, who had extensive experience in website oversight and content management, the process went smoothly.

After we selected Regency Web Services of Irvine, California, the highly intensive, detail-oriented work of design and construction began. In February, I spent a day in Irvine learning the custom content management system. Our new site finally went live in April.

Two jobs

Throughout this entire period of writing newsletters and managing the website, I also attended monthly board meetings, helped with and reported on fundraising events, participated in HD support group meetings, and became deeply involved in HD advocacy, especially in the area of stem-cell research. I have also monitored the chapter’s e-mail inbox.

All this work is like having two jobs.

The more time, thought, and energy that I dedicated to HDSA, the less I concentrated on reaching the upper echelons of my field.

In 2007, I had a job offer that would have positioned me quite well for the move to the top (click here to read more). It included a very substantial raise, greater responsibility, and the chance to work with some of the most accomplished and most ambitious people in my field.

But I turned it down. If my wife had taken a job in her field in that town, she would have seen her salary and benefits drop dramatically, thus diminishing many of the gains on my side of the family income equation.

If it weren't for HD, we likely would have made the move. However, my mother started showing symptoms of HD in her late 40s, and, as I am about to turn 50 very soon, I too could start losing my capacity to walk, talk, and think. We simply could not risk a situation in which my wife would have to support both me and our daughter on a severely reduced salary and with inadequate benefits.

My new companion

Since the inauguration of our family’s new pool in July, I have been swimming at least a few times per week for the first time in a many years. The pool has a Fastlane, which creates a powerful current, converting a small pool into a virtual lap pool. My wife and I researched the Fastlane very meticulously, as I wanted to use the pool as part of my program to attempt to prevent the onset of HD.

The Fastlane is my new companion in the fight against HD. Not only does it make exercise both highly challenging and convenient; I also get a psychological boost from the exercise and from knowing that I am doing something good for my body.

One of my heroes growing up was Mark Spitz, the winner of multiple gold medals as an Olympic swimmer. I remember him explaining once how he got through the long and difficult training sessions. He said that, as he swam, he would think of all of his old girlfriends.

When I’m out there with the Fastlane, I’m often thinking about the increased flow of blood and oxygen to my brain. I think about BDNF, brain-derived neurotrophic factor, a substance produced by exercise that is very good for the brain. Researchers, in fact, are looking for ways to increase BDNF in the brains of HD patients.

Turning point in the pool

On September 23 I took an especially vigorous swim. Like many people, I also use exercise as a moment to blow off steam or to mull over problems. On this day I thought through all of the many changes in my life resulting from the knowledge of my gene-positive status and my HDSA activism.

Then, as I increased my pace and moved ever closer to the Fastlane, it suddenly hit me that I had become a very different person. I had given over to my HD activism all of the ambition and energy that had once driven me professionally.

“You are no longer that professional,” I told myself several times as I worked against the current.

Coming to terms

After swimming, I wrote down some of my random feelings:

“We live in a society obsessed with success and celebrity. I’ve given up on success. I’ve undergone a career switch. My regular job is my paycheck. This is a process that I’ve been going through since I found out about Mom’s diagnosis for HD and especially after my positive test. Success is not money or fame or a career but a cure of the disease and living to a normal, healthy old age.

“I could get sanctimonious about success, but I won’t. Where would I be if HD had not hit me? I’d like to think that having a family and aging and maturing would make me more sensitive to these issues and also to other people and their issues. But I think HD has definitely played a role in this.”

A bit later I wrote an e-mail to one of the great friends I have made through the publication of this blog: “I just have to be careful not to let all of this HD advocacy work, blogging, HDSA volunteering, etc., consume me. It sometimes borders on an obsession, which is natural when you’re fighting for your life.”

Everything pales in comparison to HD

My dad, the Huntington’s disease warrior who cared for my mother for fifteen years until she died in February 2006, had died on September 25, two days after my revelatory swim. In the weeks leading up to his death and in the aftermath, I struggled with a hurricane of emotions involving his health, the strained relations with family members who are in denial about HD, and my deepening fears about the possible start of my own symptoms.

On October 6 – two days after we held a memorial service for my father – I added one more follow-up item to my swimming notes: “Everything except family pales in comparison to this battle against HD.”

An unenthusiastic interview

I’ve written this blog entry while riding home on a long flight back from another job interview. I applied for this job because it matched well with my qualifications and would offer the chance of another substantial raise. Obviously a part of me still strives for some professional achievement, although I had mixed feelings about making the trip, especially so soon after my father’s death.

As in 2007, it was exciting to meet new people in the profession, and it was deeply gratifying to see how excited they were to meet me and discuss my accomplishments. Nobody, however, had the slightest idea of how I spent so much of my time.

And, with my father’s death and the many preoccupations of recent weeks, I did not have time to prepare adequately. I did not perform as well as I could have.

My heart was not truly in the interview, and I knew it. We all frequently mask our true emotions with a smile, a gesture, or a comment. I have become an expert at this after keeping my gene-positive status secret for so long – precisely because I don’t want to jeopardize my professional opportunities.

I put on this performance once again during the interview, but this time it was not very easy. Perfectionist that I am, I became frustrated with the way the interview went. I was sad and exhausted at the end of the interview and simply stared out the window at the dreary fall evening as I rode to the airport.

Back home at Job One

After the 2007 offer, I decided that I would hunker down in San Diego for the long-term battle against HD. If I get an offer this time, I will certainly be tempted to take it, because it could be even better than what I was offered in 2007.

But we will once again face the same big question: will my wife’s less secure situation in a new job be good for the family as a whole if I become symptomatic?

Sadly, once again the best I may be able to do is use a potential offer as leverage for a counteroffer with my current employer.

When I get off the plane, it’ll be time to get back to Job One: remaining secure in my current job, staying healthy, dealing with the emotional fallout of my father’s death, loving my family, and keeping alive the flame of hope for treatments and a cure for Huntington’s disease.

An experiment and a death

On September 25, as I went through two different MRI machines and a battery of psychological tests aimed at detecting changes in my brain caused by Huntington’s disease, an e-mail arrived in my inbox informing me that my father had died.

This Huntington’s disease warrior, who lovingly cared for my mother for fifteen years before she died of the disease in 2006, gave up his last breath less than a week before his 82nd birthday and just two days before what would have been his and my mother’s 51st wedding anniversary.

That day and the hours since have been marked with all of the agony and irony flowing from my mother’s illness, my own gene-positive status for HD, and my extended family’s difficulties in facing up to HD’s hard reality.

The day of tests and experiments had exhausted me emotionally and, when I turned on my computer at home, the news of my father’s passing made me downright depressed and anxious.

Painful memories

My father started giving up on life about a year after my mother’s death, and after going into an assisted living facility a year ago, his mind and body steadily declined to where he had an apparent stroke in April. Several weeks ago he broke his leg. At the nursing home where he spent his final days he refused to eat and drank very little liquid. The aides had to use a lift to move him back and forth between his bed and a chair. He hardly spoke.

So his death was not surprising. In fact, I welcomed it as an end to his physical and emotional suffering.

But his demise reminded me poignantly of my mother’s own decline, and the circumstances of his death and its aftermath are like a knife in my heart.

The long string of events that led to my receiving the communication of my father’s death not from a concerned family member but objectively and coldly in a lawyer’s e-mail leads back primarily to Huntington’s disease.

HD and family disputes

A year ago I wrote about how my sister and her family and also my mother’s brother and his family remain in deep denial about Huntington’s (click here to read more). My mother’s condition, my insistence on optimal care for her, my activism in the Huntington’s Disease Society of America, and my gene-positive status all made them deeply uncomfortable and angry.

Over the years my sister has gone back on a promise of lodging at her home when I went to visit her and my parents back in the Midwest, angrily hung up the phone on several occasions, and refused to see me or simply ignored me when I was in town.

Last year she ignored several phone messages about my father, then strangely called to holler at me. “I can’t talk to you!” she said in an exasperated and definitive tone and then hung up yet again.

Her strange behavior reminded me of my mother’s outbursts during the early stages of Huntington’s. She is untested, as are her three grown sons. To my knowledge she and her family have never had a conversation about HD.

Growing anger

Whether she has HD or not, I had to find a way to help my father get placed in a proper facility. At one point, if I had not intervened in the absence of initiative from my sister, the local adult protective services agency would have simply taken my dad away without any input from the family.

So now I asked my father’s lawyer to assist her in finding a facility. Because of her inability to communicate with me and her husband’s and oldest son's use of vulgar language when I tried to reason with them, I also asked the lawyer to serve as an intermediary.

My anger over the past year has grown. When I visited my father in March, I did not see my sister.

After my sister did not instruct the lawyer to call me about my father’s death, I became deeply upset.

An inexcusable lack of compassion

A couple hours after I opened the e-mail, my father’s sister called to talk about my dad. Then she dropped a bombshell: the wake would be in less than 48 hours and the funeral in less than 72. The obituary, the destination of donations, the Mass, the burial – my sister decided everything without any concern about my wishes, without any message to the lawyer or any relative.

This was the polar opposite of the situation after my mother’s death, when the funeral home held the body several days so that my family and I could buy tickets and make other arrangements in preparation for the cross-country flight. Back then my sister and I were talking, because, during a previous visit back home, I had called her to insist that we work together to find a nursing home for my mother.

After my father’s death I wanted to call the funeral home and the church to postpone things, but my wife pointed out that my sister would never agree. The situation would become only worse. We agreed that it was a bad idea to attend the funeral.

I asked the lawyer to transmit a brief message to my sister, in which I stated, “Your attitude and actions are insulting and inexcusable. You lack compassion.”

A California dreamer

At the time of the wake, I took my dog for a long walk and reflected on my father’s life and his meaning to me.

His heart was always in California. He had actually moved the family here for a couple of weeks in July 1966, but then rushed us back to the Midwest because he was homesick. He loved visiting us here and always spoke longingly of California as a kind of paradise, especially during the long and harsh Midwestern winters.

My sister had his body, but I had his spirit, I told a friend. It’s as if he’s hovering above me as I enjoy the hot weather of the first days of the Southern California fall.

The past few days I have been going through slides that he took over the years. The California trips figure prominently in the collection. I recalled with my wife how we had tried to convince him to move out here with my mom in the late 1990s, before the housing bubble, in part so that we could arrange for better care for her. He became very excited but ultimately got scared of too much change in his life, even if that change was for the better.

A senseless, painful rift

Going through those slides and also pictures from my own collection, I also reflected a lot on my relationship with my sister. I found several images where I am having a rollickingly great time with her sons, with her and her husband looking on. One photo was from New Year’s Eve in 1989, when I babysat the three of them so that she and her husband could attend a party.

I remembered long and meaningful conversations we had in her home. In fact, my parents used to get angry and jealous because I would spend more time at her house than at theirs.

Then, about five or six years ago, in the midst of our family’s increasing difficulties with my mother’s condition, my sister told me on the phone, “You’re not really a brother.”

How, I asked myself, could this senseless, painful rift occur?

How could I be denied a part in my own father’s funeral?

Touching raw nerves

Undoubtedly part of the cause lays in differences in personality and life experience, but these are things that all families experience. Exploring them all would require a book.

Although my sister clearly lacks sensitivity, it only really became noticeable after Huntington’s disease appeared in our family.

Fear of HD brought out the most boorish, most ignorant kinds of behavior that I could imagine.

It also touched some very raw nerves.

My sister, who had wanted a daughter, became resentful and angry when my wife and I had ours. Most important, our child was free of HD, because we had her tested in the womb.

I became the family expert on HD and urged my father and my sister to take measures to help my mother, but my sister and her family always saw my efforts to help my parents as an intrusion that upset their comfortable cocoon of denial.

The impetus for a cure

While the final social consequence of HD for my sister is to sever all familial ties, I forged ahead in helping the effort to find a cure.

As I wrote in two previous entries (click here to read more, and also here), finding the cure means affected and gene-positive individuals need to participate in experiments.

CHDI Foundation, Inc., the world’s biggest organization aimed at finding treatments and a cure for HD, is studying the progression of the disease in the brains of non-symptomatic gene-positive individuals like me. We are crucial in this experiment, because symptomatic individuals, who have chorea (uncontrollable movements), would move during the scans and therefore compromise the images. In fact, in the first scan the researcher, psychology Ph.D. student Ian Greenhouse, placed my head in a head clamp to prevent even the slightest movement.

Ian Greenhouse explains the use of the structural MRI machine in the experiment (photo by Gene Veritas).


The researchers hope to discover if it’s possible to use MRI scans to observe what happens in the earliest stages of the disease, said Ian, who previously worked at Harvard University and helped to establish an MRI center at the University of California, San Francisco. He now works in a cognitive neuroscience laboratory at the University of California, San Diego (UCSD). These early signals, he explained, could help predict when and how a patient would develop more serious symptoms. This data could help in the development and administration of drugs.

Last year I volunteered to take part in the experiment at its UCSD site, one of several CHDI is using. On September 25 I returned for the one-year follow-up, which was necessary to trace the changes in the brain that may have occurred. In addition to the scans, I performed a battery of cognitive tests, answered a questionnaire about my health and Huntington’s disease in my family, took a mood test, and gave blood. Some of this data will go to COHORT, the Cooperative Huntington’s Observational Research Trial sponsored by the international Huntington Study Group.

UCSD researcher Melissa Generoso displays one of the cognitive tests I performed (photo by Gene Veritas).

Predicting the weather

The first scan, done in a structural MRI machine, included two parts: an anatomical scan and diffusion tensor imaging (DTI). The anatomical scan measured the amount of gray and white matter across my brain as well as cerebral spinal fluid. The DTI measured the strength of connectivity between different areas of the brain.

Afterwards Ian showed me my brain on computer – the brain I inherited from my HD-stricken mother and my father, the tireless, dedicated Huntington’s warrior. Ian and the other researchers aren’t allowed to comment to test subjects on what they see in the scans, and I wasn’t really interested in hearing if my brain had been damaged.

In the second, functional MRI machine I performed two experiments, both while holding a control box with two buttons. In the first experiment, the weather prediction paradigm, I had to determine whether it would be rainy or sunny based on symbols flashed on a screen. After I pressed one of the buttons, the program revealed the correct response. The symbols themselves – for example, a rectangle – did not signify anything about the weather, so I had to make my predictions based on trial and error.

The research team adopted the weather game because of the success scientists achieved with it in Parkinson’s disease patients, explained Sarah Sheldon, the coordinator of the CHDI-UCSD project and a research associate who performed the second set of scans on my brain. In the Parkinson’s experiment, researchers compared their ability to predict the weather to that of amnesia patients. The amnesia patients learned well, because the part of the brain used for this procedural learning was independent of conscious memory, Sarah said. But, even though they had their full memories, the Parkinson’s patients had difficulties predicting.

For this task, the area of the brain affected in Parkinson’s, the frontal striatal basal neural circuitry, is the same as in HD, Sarah explained.

Sarah Sheldon, coordinator of the MRI research project, stands at the entrance to the UCSD center where she ran one of my brain scans (photo by Gene Veritas).


Threats to white and gray matter

In the second functional MRI experiment I had to press the left or right button according to the indication flashed on the screen. Sarah instructed me to respond as quickly as possible. If, however, I heard a beep, I was supposed to do nothing. The beeps came almost immediately after the visual signal. I had to comply with two imperatives: quickness of hand but also in the ability to hold back. Sarah called the latter “stop signal reaction time.”

With this experiment, which is also used to assess people with brain lesions and attention deficit hyperactivity disorder, researchers hope to gain a better understanding of chorea. Chorea, of course, prevents people from inhibiting their movements, so people who are losing that ability would do poorly in the experiment.

According to Sarah, to date the researchers have observed that the HD test subjects’ white matter (the filaments of the brain’s network) is deteriorating more quickly than the gray matter (the cells). Thus they are hypothesizing that the network starts to go down first, later leading to the destruction of the structure, the cells.

Sarah noted, however, that the conclusions are only preliminary, as they still need to evaluate the rest of the data, including the information from the cognitive and mood tests and questionnaires.

A very long day

The stress of being reminded so extensively about my gene-positive status – as well as the exhilaration of assisting with critical research and meeting the young scientists who carry it out – caused me to want to tune out at the end of the day, especially because it was a Friday.

Little did I expect that my routine check of e-mail at the end of the afternoon would bring the devastating news of my father’s death.

With all the anxiety in my life, my wife and I agreed that trying to confront my sister about his funeral or even simply attending it in such horrible circumstances was not worth the risk of greater emotional trauma. We both recalled how my father had suffered a heart attack at the age of 53 and how heart problems afflicted many other members of my family.

My father’s son

Then my wife had a brilliant idea: we would hold our own memorial service on Sunday, October 4, at our home. This would afford me the opportunity to grieve with our closest friends and my cousin and her family, who live in Los Angeles.

Planning the memorial, including the preparation of a photo presentation spanning my father’s adult years, took practically all of my energies this past week. I have privately mourned, and I have quietly processed the meaning of his life for me and the monumental impact of Huntington’s disease on our family.

The sadness is profound, a heartache that will never disappear. However, we will not focus on our loss, but celebrate what he gave to me and the world.

I am my father’s son, and my dedication to the HD movement is ultimately a result of the life path he prepared for me. And the strength and courage I need to persevere will also well up in me because of the example he set in caring for my mother.

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.