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.