Playing in the fourth quarter of life as Huntington’s disease looms

Seeing my mother succumb to Huntington’s disease at the age of 68 and living in fear of the onset of my own symptoms, I have come to appreciate the preciousness of time.

One of my closest HD confidantes and I frequently measure time in terms of the four quarters of a football game. We see most people like us, in our early fifties, as playing somewhere in the third quarter, the prime of life.

However, I’m well into the fourth quarter. I’ve already reached my mother’s age of HD onset, and I will be extremely lucky to reach 60 without a serious reduction in my brain power and the start of chorea, the shaking and trembling experienced by most HD patients. Indeed, I cannot imagine life beyond 60, a time when my only child will be in college. I’m deeply saddened that, in an era when more people than ever are working into their late seventies and even eighties, I may have to stop in just a few years.

Because HD is inevitable, I know the symptoms will start, even as I hold out hope for some scientific breakthroughs. Maybe I’ll get a “mild” case – or maybe I’ll suffer just as badly as my mom. Like hers, most cases of HD I know devastate people physically, behaviorally, and cognitively, leaving them mere shadows of themselves.

So, these days I’m throwing long passes, aiming for touchdowns.

I’m also starting to focus on putting my affairs in order to facilitate matters for myself, as well as my wife and daughter, if HD becomes so bad that I can no longer work or take care of myself.

It’s time to prioritize. That includes stepping back a bit from this blog. Regular readers will notice that recently I’ve written much less. After a period of intense writing, I need to replenish my emotional energy.

And, in perhaps the most important process of all, I’m learning to accept my defeats, the disease, and, ultimately, my mortality.

Throwing long in the publishing world

As an activist for the Huntington’s Disease Society of America (HDSA), I’ve strived to help build awareness, although my need to remain anonymous and avoid genetic discrimination has, until recently, stymied that goal in terms of reaching out personally to people.

In mid-2010 I started to exit the terrible and lonely “HD closet” by making speeches about my family’s struggles with HD. Since then, I’ve made some ten presentations, most recently at the HDSA annual convention.

As a writer, I decided to attempt some long passes in the hope of generating greater media exposure about HD and the need to research and treat neurological disorders.

This is my moment.

Towards my goal, I’m working to publish a book about my family’s experiences with Huntington’s and scientists’ and drug firms’ quest for effective treatments. I hope to add to the excellent writings of other HD authors, including Jim Calhoun, Trish Dainton, Susan Lawrence, Carmen Leal-Pock, Sandy Sulaiman, and Alice Wexler.

How to ‘sell disease’

In today’s world, publishing a book on HD is an especially daunting challenge. With the rapid decline of traditional bookstores and the rise of the e-book, publishing is undergoing a revolution. It’s also become a virtual monopoly of an elite of blockbuster authors.

One clear message is that “disease doesn’t sell.”

Furthermore, so-called orphan diseases such as HD – with an estimated 30,000 affected people and some 250,000 at-risk – are orphans not only for the drug industry, but for the media.

Despite the terrible drama of conditions such as HD, in this information-saturated age it’s hard for people to grasp a disease that doesn’t directly affect them or loved ones.

However, in June came the encouraging news that former Palm Beach Post reporter SusanSpencer-Wendel signed a book contract for $2.3 million to chronicle how she will fulfill her “bucket list” of desires as she struggles against Lou Gehrig’s disease – a condition with approximately the same number as affected individuals as HD. She also received a seven-figure movie deal.

Indeed, disease can sell – if one has good media connections like Spencer-Wendel and discovers a way to link a story to trendy themes.

As a gene-positive HD person and HD activist, I believe disease should sell. The imminent tsunami of people affected by neurological disorders will add enormous stress on caregiving communities and the healthcare system.

Not in my wildest imagination have I thought a publisher would pay millions for a book about HD, but I do hope that, by earning at least a modest fraction of that, I could help insulate my family from financial crisis in the event of my illness and make a substantial donation to HDSA.

Focusing on the basics

As I’ve reflected on my goals, I’ve also come to recognize the danger of my ego taking my focus away from what matters most.

“Vanity of vanities!” the biblical Book of Ecclesiastes tells us. “All is vanity.”

I will continue to write about HD and strive to publish a book. However, as I head deep into the fourth quarter, other goals take on increased importance.

“Forget about the glamor,” I told myself. “Get to the basics.”

Later I quipped to myself: “God doesn’t read resumes!”

For 10 days in June, I got away from the worries of writing, career, and Huntington’s disease by traveling with my family to restful spots in northern California.

After visiting the La Brea Tar Pits in Los Angeles, we spent several days hiking in Yosemite National Park. We traversed the expansive and hot Central Valley, drove down the Avenue of the Giants in one of the state’s virgin redwood forests, strolled along the idyllic shoreline of Crescent City, took in the wild coast of Mendocino County, and celebrated our HD-free daughter’s twelfth birthday in San Francisco.

Enjoying these natural and human treasures together gave us a deeper appreciation of our home state. It also strengthened our family bonds and deepened my commitment to my daughter as she prepares to embark on a new adventure at a private school just as she enters adolescence.

At Glacier Point in Yosemite National Park

On the dock at Crescent City

Confronting the hard reality

In the HD movement we all need to strive for the big successes – such as big fundraisers, media attention, advocacy for stem-cellresearch, improved Social Security legislation, and other pressing needs.

But, as our community knows so tragically, both individuals and families need to prepare for the hard, scary reality of HD.

Instead of writing, this summer I’ve focused on dealing with the inevitable onset of symptoms – and my eventual death.

Already in January, as I prepared for the potential fallout of going more public through my writing, I had participated in an HDSA webinar on genetic discrimination. On July 11, I took part in another webinar titled “preparing for the unknown,” which discussed the importance of establishing end-of-life directives for caregivers and loved ones. On August 8, after my annual appointment for cognitive testing at the HDSA Center of Excellence for Family Services and Research, I picked up a copy of a sample advanced directive.

This summer I also reviewed the slides from a March webinar on “workplace accommodations for HD” – an especially crucial topic for me because I plan to continue as long as possible in my position as a university professor.

Receiving this information has helped me start to prepare mentally, emotionally, and logistically for the onset of HD

Putting things in order

In recent months I’ve fantasized a lot about retirement – from both my career and the HD movement.

“Our culture thinks it’s cool to be exhausted,” I wrote recently in my notes about this fantasy. “We wear it as some kind of badge of honor. I myself have been like this. But it’s absolutely nuts! I need to pace myself, keep getting down time. It’s so true what I’ve heard in Brazil: Americans live to work, Brazilians work to live.”

In particular, this summer I’ve also felt a powerful urge to put my life in order, especially those areas I’ve long neglected because of time spent on HD activism. In the fourth quarter, it’s time to take stock of my life – and to enjoy doing so.

I began by transferring the songs from several hundred music CDs onto iTunes. Listening to many of these songs for the first time in decades brought a flow of good memories from my twenties and thirties.

Next, I reorganized my home office for the first time since we moved to this home in September 1999. I threw away garbage bags laden with hundreds of old 3.5-inch diskettes, checks and check registers going back to the early 1990s, and numerous other unneeded items.

I like the idea of traveling lighter on my journey with HD and through life.

I finally caught up on our home movie collection, started scanning old family photos that are beginning to fade, and filed work and HD-related CDs and DVDs in a storage case I had bought about four years ago.

I like caring for plants. I potted three new ones and placed them by the window. It felt great to get my hands dirty and to smell the soil. Sunday evening is watering time.

What causes this desire for order? The natural rhythm of life? A side effect of HD’s subtle psychiatric symptoms, which can include obsessive-compulsive behavior? Just plain fear of onset?

Whatever the cause, the greater sense of order has brought me a sense of comfort, of preparedness for HD and whatever else life might bring, of living the moment.

Shifting passions, accepting fate

I’m in a fight for my life against HD. Ironically, that means that perhaps it’s time to stop fighting so hard. Fighting too hard can worsen stress. A positive family life, exercise, tranquility – these are the real keys to personal survival.

I have a stable job, a loving family – and the tremendous gift of so far having avoided HD’s classic symptoms.

Tranquility and stability will help me negotiate the dramatic shift in my professional career from an emphasis on Latin American history to the history of science and the chronicling of the HD movement.

In one of my recent dreams, I plunged down a Rio de Janeiro hillside on the back of a wheelchair driven by a disabled man – undoubtedly an HD man – who, like my mother, could not speak.

I used to value traveling to Brazil. Savoring those experiences brings a warm glow to my heart. As a professor and father, I pass on those experiences to the next generation.

Now I’m becoming excited about new kinds of travel: through the biotechnological revolution, through my own mind in search of its meaning.

Yet, despite the vast progress in brain research of recent decades, the drug industry still has not produced a single remedy for neurological disorders. Although I never abandon hope, I also understand that a treatment may not arrive in time to save me.

Ultimately, tranquility and stability will help me prepare spiritually for the onset of HD: the realization that, in the end, I must accept my fate.

An angel fighting for the cure (Huntington’s disease and abortion – Part I)

Lying in a hospital birthing room, Christina Wright held her premature infant son Timothy John awhile in her arms and, after he died, handed his tiny body over for research that might help save her husband and thousands of others from Huntington’s disease.

On August 28, 2011, Timothy became an “HD angel,” yet another mourned but deeply loved victim of this killer brain disease. His brain was donated to a tissue bank at the University of British Columbia’s renowned research program on Huntington’s.

After the fetus tested positive for the abnormal gene that causes Huntington’s, Christina and her husband Michael prayed at their local church in Coral Springs, FL, and then decided to abort their child in the 22nd week of the pregnancy. Hoping all along that they might carry the baby to term, they had already given him a name.

For more than ten years, Michael has helped care for his 54-year-old mother Gail Suvino, now residing in a nursing home with late-stage HD. In October 2010 Michael himself tested positive for the disease. He is 34, and he worries constantly about when his own symptoms will start.

Christina and Michael Wright (family photo)

The ‘toughest decision’

Christina and Michael could not bear the thought of their son facing the threat of a life burdened with severe disabilities and ultimately cut short by years, if not decades.

“It was very hard for me,” Christina said with great emotion in a phone interview on December 8. “I didn’t know that he was going to be born alive. He was strong and a fighter and wanted to live, and that breaks our hearts.”

“He looked just like me when he was born,” said Michael, who had stood by Christina during the birth. “He had my big feet and chicken legs.”

“This was the toughest decision we ever had to make,” he continued. “I bring it up every day. A lot of people don’t know what this disease does to a family. It does massive damage to a family.”

A birth with a research goal

With medical assistance, a baby delivered at 22 weeks would have a 10 percent chance of survival, explained Christina, a pediatric nurse. Because this was an abortion, the medical team did not intervene to save Timothy. He died of heart and lung failure.

“I did not have a clinical abortion,” Christina said, noting that in a standard abortion the mother is put under anesthesia and the fetus terminated and removed in pieces with the help of forceps. Under those circumstances, the brain could not have been used for research.

“I went through the birth to be able to donate the brain,” Christina continued. “The doctors did insert pills into my cervix to induce my labor. I pushed him out. I delivered my son with the purpose of fighting this disease.

With great pain in her voice, Christina spoke of how she will miss her son.

“No one wants to hurt their child,” she said. “We loved him so much. We always will. Even if we have ten children, we’re always going to be missing one. He was our son and always will be. We have pictures of him. We have his ashes in an urn. He will live in our hearts forever.

“I feel like he’s fighting in a different place,” she added. “He’s my husband’s angel. My son can help save my husband. He’s a warrior. I couldn’t be more proud as a mom, to know that my son helped find a cure to beat this. Some moms want their children to be a doctor or a lawyer. Mine might help find the cure for a disease that destroys families.”

Painful memories of another test

When I read Christina’s Facebook posting about Timothy on August 29, I felt terrible. I decided immediately that I would soon write an article for this blog about their plight. This is the first of two articles about HD and abortion.

Never an easy decision, abortion is even tougher for people of faith like the Wrights and a pediatric nurse like Christina. The disabling, ultimately deadly nature of HD further complicates that decision.

Interviewing the Wrights was one of the most difficult moments in my 13-plus years as an HD activist.

Listening to them sent my mind reeling back to the winter of 1999-2000, when my wife and I tested our own baby for HD in the womb six months after I had tested positive for HD. As I told the Wrights, their experience closely resembled ours – except for the all-important fact that our daughter tested negative.

As I pictured Christina holding Timothy, I imagined what it would have been like if our daughter had died in her mother’s arms immediately after birth.

I can’t find the words to describe the pain I felt. I shared our family’s story with Christina and Michael. I told them that I supported their decision and thanked them for donating Timothy’s brain for such a worthy cause. “I appreciate that,” Christina said.

In recounting the interview to my wife, I explained how the Wrights had oscillated between continuing and terminating the pregnancy. I then recalled our own situation. “Nobody knows for sure until they’re actually faced with the decision,” my wife said. I agreed.

An HD-free child

I am immensely relieved that our “miracle baby” is HD-free.

On several evenings this past week she and I happened to watch a recording of The Heart of Christmas, a new feature film based on the story of Dax Locke, a toddler whose battle against a rare form of leukemia mobilized the community to support his family and celebrate Christmas early so that he could enjoy it one more time before he died in 2009. Thinking of the Wrights, I felt so privileged to share these moments with her.

Last Saturday morning, after we accompanied her to a testing center for a private school entrance exam, I reflected on her progress in life and her immense potential.

The most powerful drive in life – more than the sex drive or anything else – is the need to nurture and protect a child. No calamity wounds a family more than the death of a child.

An imperfect situation

The Wrights’ story reveals the tragedy of HD, the wrenching decisions it forces upon families, and the imperfect conditions under which they must make and carry out those decisions.

After meeting through Match.com and dating awhile, Christina and Michael married on St. Patrick’s Day of this year. Michael, a beverage merchandiser who had to quit college in part to help care for his mother, had revealed to Christina that he had tested positive for HD but so far had not symptoms. Christina witnessed the tough reality of HD by meeting Gail.

“A lot of people would run the other way,” Michael said. “She really loves me.”

Christina, now 38, had been told by doctors that she couldn’t get pregnant because of an irregular menstrual cycle since the age of 14 and, later, ten years of failed attempts to conceive in a prior relationship. She and Michael didn’t use contraceptives.

The pregnancy caught the Wrights completely by surprise. Thus they hadn’t had the opportunity to seek genetic counseling, nor could they resort to PGD (preimplantation genetic diagnosis), which would have allowed them to choose embryos without HD for implantation into her uterus.

Pondering the results

An amniocentesis was done on the baby at sixteen and a half weeks, the earliest possible moment. But the results of the HD test took three more weeks to arrive.

Michael’s abnormal gene has 42 CAG repeats, whereas a normal huntingtin gene has only ten to 29. Those extra repeats cause the disease. Timothy had 40 repeats. Statistically speaking, Michael, who is 34, will probably develop symptoms sometime in his forties or fifties. Someone with 40 repeats might develop them a bit later, although, according to Michael, Gail’s symptoms started around the age of 36 or 37, and she has only 36 repeats.

Although they are finding more clues, scientists still don’t know exactly how and when the disease starts. Anybody with 40 repeats or more will definitely develop symptoms at some point.

The Wrights had learned that the child of a gene-positive man has a much greater chance of developing juvenile Huntington’s disease, which can start as early as the toddler years. But that’s because the father can often pass on more repeats, whereas a mother usually passes on her number. In this case, Timothy actually had fewer repeats.

“I almost don’t want to know that, if that’s the case,” Christina told me after I explained my understanding of that connection between repeats and juvenile HD. “We very much wanted our baby. We feel that we gave him back to God, especially because we’re Catholic.”

‘We were bonding’

The process of learning about their child’s fate was awkward. The Wrights received the results of Timothy’s HD test from an on-call obstetrician, rather than from their regular doctor, who was out of town. No social workers or geneticists were on hand to help clarify the information, and it was the first time the obstetrician had ever advised a patient on an amniocentesis involving HD.

The Wrights faced additional time pressure because in Florida a fetus at 24 weeks is considered viable, Christina explained. Had Timothy reached that age, the couple would have had to travel to another state for an abortion.

“We were both crying and both devastated,” she said of the impact the news of Timothy’s gene-positive result. “It was very difficult for us. I didn’t think God would give us more than we could handle, and so I wanted to have our son.

“It wasn’t just a pregnancy at that point. It was our son. We saw his picture on the ultrasound. I was gaining weight. I could feel him move. We were bonding with him. We started picking names. It was just very hard.”

Medical advice

But the obstetrician told her that she “was being selfish and not considering the life of the child” if she went through with the pregnancy, she said.

Other doctors that the Wrights knew at the University of Florida in Gainesville – where Michael travels regularly to participate in an HD research study – couldn’t tell the couple when the symptoms would occur and how bad they might be.

“We wanted to consult with them,” Christina said, explaining that they spoke with these physicians via cell phone. “Their opinion meant more than an obstetrician’s. They agreed that it would be better not to have the child.”

She added that these doctors did not mention the relationship between the CAG repeats and the age of onset.

All of the doctors led the Wrights to conclude that they would have a “sick baby,” Christina said.

Timothy’s purpose

Sitting in a pew at their church, the Wrights prayed and cried for more than an hour. The parish priest appeared and asked what was wrong, and, without mentioning HD or a genetic test, the couple explained that they had gotten “bad news” at the doctor’s office and would have to deliver their child prematurely.

“He came into our room (at the hospital) and said a prayer and held our son and put some holy water on him and christened (baptized) him,” Christina said, adding that Timothy was probably dead at that point. “It was very touching for us.”

Timothy lived for about 90 minutes. The medical personnel needed to get his brain on dry ice in 30 or so minutes, and they shipped it to the University of British Columbia’s Huntington Disease BioBank. There scientists study tissue samples to understand “the way DNA changes associated with Huntington’s disease affect the actual physical characteristics and proteins of the brain and tissues.”

“That was one thing we were adamant about,” Christina said. “If we were going to lose our son, we wanted something to come from this.

“We’re not ashamed of what we did. We just want to help find a cure.”

The couple wants to share their story to raise awareness about Huntington’s and support the quest for a cure not just of HD, but other devastating neurological conditions such as Alzheimer’s and Parkinson’s, Michael added.

Timothy is now part of that quest.

“We felt that was his purpose,” Christina said.

Opinions on testing

The Wrights still want a child and are now saving to afford PGD, which can cost upwards of $10,000 and even twice that amount, depending on the circumstances. Their insurance doesn’t cover it.

They believe that PGD is “the responsible thing to do,” Christina said. She strongly disagrees with families that, when pregnant, choose not to test for HD via amniocentesis.

“With all that science has to offer, it’s (also) the responsible thing to do,” she said.

“Just think about the long-term effects if they don’t do the right thing,” Michael said. In using the latest scientific techniques, he and Christina aren’t seeking the “perfect baby, but a healthy baby,” he added. “You owe it to your family” to assure healthy genes, he said.

“God gives us these vessels, these instruments, this technology to guide us and help us along, especially in the medical field,” Michael said. “Don’t go through it blind-folded.”

More HD families need to “come out of the closet,” Michael continued. HD is “not something to be ashamed of. People look at Mom and think it’s a stroke. It hurts."

Learning from the Wrights’ example

In concluding the interview, I told Michael that he and I were “brothers” in the fight to stay healthy and support the cause for the cure. I told Christina that she was my “sister” in the cause.

I’ve been meditating on Timothy and his parents. I pray that others don’t have to face their terrible predicament, although many surely will until the medical community achieves greater awareness of the genetics of HD.

Ultimately, effective treatments or a cure would liberate people from this predicament.

We can learn much from Timothy John Wright. His parents gave us his brain for research – to serve the greater, common good. Understanding the bigger picture, Christina and Michael committed the ultimate act of human solidarity.

We in the HD community also need to see the greater good. Whenever possible, we need to participate in research. To do so, we must exit the terrible “HD closet.” I myself remained pseudonymous, in the closet until 2010, and in February of this year I came out by delivering the keynote speech to HD specialists from around the world gathered at a key conference in Palm Springs.

As Michael pointed out, we need to rise above the difficult feelings surrounding HD and gain heart from the fact that our participation in the quest for treatments and a cure is helping to create the dawn of a new era. Along with the scientists, we are taking a quantum leap in the study of the brain. We are the pioneers pointing the way to better brain health. We are doing something profoundly good and important.

From suffering to progress for all

In the past, many people – including my own family – have viewed HD as a matter of suffering. But today, with scientific progress, HD is about the human quest for a longer and more fulfilling life for all.

In the Bible, Abraham was willing to sacrifice his own son in a sign of complete commitment and love. Our collective human sorrow is captured In Michelangelo’s Pietà, with Mary holding the body of her son Jesus after his crucifixion.

Michelangelo's Pietà, in St. Peter's Basilica in Rome


The mini-urn containing Timothy's ashes (family photo)

We in the HD community are all Timothy John Wrights in our mothers’ arms.

Indeed, we in the HD community endure great suffering. “You think, ‘God can’t be that cruel,’” Michael said.

But, like the Wrights, none of us should feel ashamed. This community has lots of love – and it shows it just as the Wrights have done.

(The second part of this series will tell the story of Katelyn Sandbulte, a 20-year-old juvenile Huntington’s disease patient in the first trimester of pregnancy.... At this special time of year, please remember to donate to the Huntington’s Disease Society of America.)

Bin Laden and HD

Most Americans will always remember exactly where they were during the 9/11 terrorist attacks.

And most of us will probably remember exactly what we were doing when word came of 9/11 mastermind Osama Bin Laden’s killing on May 1, 2011.

I was checking HD-related e-mail. “No bearing on HD… Thank God Osama Bin Laden is DEAD,” read a message from a member of the Facebook discussion group called “HD Family.”

I immediately jumped to CNN.com to confirm the report. I shouted the news to my wife in another room, where she was getting our 10-year-old daughter ready for bed.

“What a relief!” my wife and I told each other as I rushed to put the TV on CNN.

Riveted to the screen, we watched President Barack Obama’s announcement.

I could feel the two of us being transported back nearly a decade, when we spent so many evenings in that same room anxiously watching the television and worrying what other atrocities Bin Laden might perpetrate upon the nation.

A cause hampered

In fact, Bin Laden did have an enormous – if not always direct – bearing on many facets of American life – including the cause to eliminate Huntington’s disease.

In the economic boom of the 1990s, as scientists got their first inklings of possible treatments for HD in the wake of the discovery of the HD gene (1993), the cause started to build substantial momentum under the leadership of the Huntington’s Disease Society of America (HDSA) and the Hereditary Disease Foundation.

Even the tech stock crash of 2000 didn’t seem to threaten the promise of new research.

But Bin Laden’s attacks on the World Trade Center and the Pentagon struck at the heart of our financial and military might. And, as I feared, they diverted the national focus towards security issues and away from philanthropic activities and medical research, both crucial in the fight against HD.

Thus, like many Americans, I took the attacks personally. For the first time that I could remember, I cried for our country.

My worst fears

In June 1999, fewer than two years before 9/11, I had tested positive for HD. In January 2000 our daughter tested negative in the womb. So I was acutely aware of the threat posed by the defective huntingtin gene.

The 9/11 attacks seemed to dash all hope of a quick solution to HD.

I was angry at the Bin Laden terrorists for disrupting our lives and the promise of progress.

I felt especially forlorn about my own gene-positive status, because my mother, who had already been suffering from HD for at least a decade, was rapidly declining and could no longer talk.

As I told a friend at the time, my worst fears had come true: a cataclysmic event threatened to break the back of the nation, perhaps postponing the discovery of a treatment or cure to a date well beyond the start of my inevitable HD symptoms.

But, like the rest of the country, our local HDSA chapter somehow moved ahead, and we proceeded with our plans to raise awareness and funds.

On September 20, 2001, I volunteered at a fundraiser at a small amusement park that brought in $5,000 for HDSA-San Diego. I remember the strange mixture of emotions as I hustled around the park and worried about terrorism.

Exactly one month after 9/11, I attended our chapter’s very first Celebration of Hope Dinner. We raised almost $63,000 – about $10,000 more than our goal.

Generosity and terror

In December 2001, still caught up in the whirlwind of 9/11, I wrote an editorial for our chapter newsletter titled “Generosity and Terror”:

The most immediate concern is about funding. The attacks quickly focused Americans’ sympathies on the plight of the thousands of victims and their families. We mourn these horrible losses and support the efforts to bring the killers to justice.

The attacks also harmed our economy, and the outpouring of sympathy has diverted attention from many other charitable activities.

Government at all levels shifted its focus to dealing with the aftermath of the attacks and protecting the nation against future threats. We are at war. This all means that the government is spending – and will likely continue to spend for years to come – tens of billions of dollars for military defense and national security.

This combination of difficulties could undermine long-term philanthropic giving and reduce the level of activities of many charities and programs that fight disease.

But HDSA-SD supporters have suggested that the reality can and should be otherwise. Within weeks of the attacks they helped us raise tens of thousands of dollars. Other HDSA events went on as planned elsewhere. This is a resounding message that generosity and compassion will overcome the hateful politics of terror. The American spirit is to move ahead, no matter what the odds.

We thank those who have supported us during these difficult moments.

And we urge our leaders to remember that a great nation survives not only with a strong defense, but through the continuation of its programs for the betterment of human life. That includes funding for the National Institutes of Health and other initiatives against disease. In the campaign against terror we must not lose our public soul of domestic concern and generosity by overspending on weapons.

Strong health is our most basic prerequisite for survival as a nation. In the fight to stop disease, the test tube will topple terror, MDs will outlast murderers, and veneration of life will overcome the cynicism of violence.

Ups and downs of philanthropy

American charitable giving slumped from 2001 to 2003, but grew to record levels by 2007.

During the early 2000s downturn, HDSA also took a hit. Previous, ambitious plans for a $20 million annual budget fell by the wayside. Public advocacy languished. And, for a number of reasons, HDSA fell into financial disarray. Only now is financial stability in sight.

Under new leadership, HDSA is seeking to reconfigure itself as a community service organization for HD families. (May is Huntington’s Disease Awareness Month, and I’ll be writing soon on HDSA’s outlook.)

CHDI: a godsend

Meanwhile, in the past six years the CHDI Foundation, Inc. has invested heavily in potential treatments and a cure. Its budget will reach an estimated $100 million this year.

Informally known as the “cure Huntington’s disease initiative,” CHDI has been a godsend for the HD community. It is partnering with biotech companies, the government, and academic labs to speed up the hunt for effective drugs.

Thanks to a wealthy, anonymous donor, CHDI has kept spending at high levels despite the deep recession of 2007-2009, occasioned by a record drop in charitable giving that dwarfed the post-9/11 slump.

Thus, while in the short run Bin Laden’s attacks impacted the HD cause, in the long run the emergence of CHDI trumped terrorism.

In 2001 the 9/11 attacks had caused me to lose much of my hope for an effective treatment or cure. In 2011 I now have a level of hope previously unimaginable – in terms of the organizational and financial commitment to the cure and the research progress.

Unity and ingenuity

In his speech about Bin Laden’s killing, President Obama appealed for a renewal of national unity and reminded Americans that we “can do whatever we set our mind to.”

Listening to the president, I felt proud to be an American and rejoiced in his optimism about our future.

American ingenuity can bring about better care for our HD patients and their families and the treatments that I and tens of thousands of other gene-positive and HD-affected people so desperately need to stave of the devastation of our brains and eventual premature death.

On May 6, I will travel to Sacramento, CA, to interview a team of scientists working on a potential Huntington’s disease stem-cell treatment under the leadership of Dr. Jan Nolta. The next day I will deliver a speech on my experiences as a gene-positive HD activist at the annual convention of HDSA’s Northern California Chapter.

On May 17, I will give a similar speech at Alnylam Pharmaceuticals, which aims in the next year or so to begin Phase I clinical trials for a potentially revolutionary HD treatment.

HDSA, CHDI, Dr. Nolta, Alnylam, and so many other scientists could together change the history of Huntington’s disease and of science and medicine.

It took America ten years to get Bin Laden. With similar determination we can defeat Huntington’s disease in the next ten years.

The diary of a Huntington's disease activist

In my previous blog post, I described my secret, second career as a Huntington’s disease activist.

Today I was off from work because of the Easter holiday, so I decided to catch up on a few of the most pressing tasks on my HD “to do” list.

Recently I’ve received questions from other members of the HD community about how to engage in or improve upon work in the cause. I hope that this blog article – which I am fashioning as a kind of diary entry – will provide some suggestions.

Also, next month is HD Awareness Month – an opportunity for everybody in our community to reflect on our roles in the cause. On May 7, I’ll be speaking on the topic of effective activism at the annual convention of the Northern California Chapter of the Huntington’s Disease Society of America (HDSA).

6-7 a.m.

After having gone to bed early (9:30 p.m.), I arose to prepare scrambled eggs for our “miracle baby,” who tested negative in the womb in January of 2000. She’s taking state achievement tests this week, and my wife and I want her to eat an extra good breakfast to help boost her performance. As my wife got her ready, I checked the first e-mails of the day from the HD Facebook discussion groups to which I belong, and did my morning stretch.

8 a.m.

I returned home after dropping my daughter off at school. With both my wife and daughter off to their activities and the house quiet, I performed my morning deep breathing exercises and mini-meditation.

This morning ritual helps me face yet another day of living at risk for HD while juggling job, family, and other responsibilities.

8:10-9:15 a.m.

I started thinking about tonight’s monthly HD support group meeting. I always come back from support group distraught at seeing people with HD and hearing others tell their sad and difficult stories of living at risk or experiencing the initial symptoms such as problems with driving.

I don’t want to go – but I must. I decided to go back to bed for some extra sleep – and to help my mind work through the fear so that I can function normally the rest of the day.

9:20-10:30 a.m.

I awoke after about an hour of sleep feeling less depressed.

I responded to some work and personal e-mails, and then turned to HD e-mail again. I exchanged several messages with the local special events coordinator for HDSA-San Diego about corporate sponsorship logos for our chapter website, which I oversee. These logos need updating to reflect new 2011 supporters of the cause here in San Diego.

I also made a few phone calls about Senate Bill 648, the Huntington’s Disease Parity Act of 2011. If passed, the law would make it easier for HD-affected individuals to obtain federal benefits.

I found out over the weekend that the sister of a very good friend is a staffer to Rep. Xavier Becerra (D-Los Angeles), a member of the powerful Committee on Ways and Means and the ranking member of the Ways and Means Subcommittee on Social Security. Rep. Becerra did not back the bill last year, when advocates obtained 153 co-sponsors in the House of Representatives. His support is crucial, and we need to get him on board. (Click here for a previous blog article on the bill.)

I recalled HD advocate Allan Rappoport’s sage advice: if you don’t know a representative or senator, ask five friends for help. At least one of them is bound to know an elected official or how to contact one.

10:30-10:45 a.m.

I phoned Jeri, a middle-aged woman who cares for her nephew Tony, who was stricken with HD in his early 20s. I want to write a blog article about care, using Jeri’s selfless dedication to Tony as an example. Completely disabled, Tony now lives at Edgemoor Hospital, a public facility where Jeri visits him each evening to help him eat dinner.

Jeri told me that Edgemoor was in the news because a 50-year-old non-HD patient, who was recovering from a car accident, allegedly bled to death because of hospital neglect (click here to read news coverage).

Later I sent the link about the article to the HDSA-San Diego board and support group facilitators.

Edgemoor personnel have cared for dozens of HD patients over the years, and I fear that I, too, may end up there if my family cannot care for me or afford to find proper assistance. I have visited Edgemoor on several occasions. The facility seems to have improved, but the news of neglect – and a $2 million legal payment from the County of San Diego to the dead man’s family – left me deeply worried about the fate of HD people there.

11 a.m.-noon

I drafted the letter below to Sen. Barbara Boxer (D-CA) about the HD Parity Act.

Dear Senator Boxer:

I urge you to join Senator Kirsten Gillibrand as a co-sponsor of S. 648, the Huntington’s Disease Parity Act of 2011.

One of the cruelest of conditions, Huntington’s disease destroyed my mother’s brain, leaving her unable to walk, talk, or swallow. HD is like a combination of Alzheimer’s and Parkinson’s, with psychiatric problems added to the mix. After more than 15 years battling the disease, my mother died in 2006 at the age of only 68.

I tested positive for HD in 1999. There is no treatment or cure, and I will very likely develop symptoms within a few years. I am 51.

This genetic killer strikes people like me in their prime, saddling our families with a huge caregiving burden and ruining their finances.

Individuals affected by HD qualify for Social Security Disability benefits and Medicare. However, bureaucracy and inaccurate information about the disease make it difficult for HD people to actually secure their benefits. Some are even denied those benefits.

S. 648 would enact two very important changes in the law.

First, it would require the Social Security Administration to update its decades-old, inaccurate disability criteria for HD.

Second, it would waive the two-year waiting period for patients to receive Medicare benefits, thus bringing assistance quicker to families in dire straits.

Passage of the HD Parity Act will bring immediate relief to HD-affected families. I have paid Social Security taxes all of my working life, and my wife and daughter will urgently need federal benefits when I can no longer help support them. Passage of the Act will provide at least some peace of mind for us as we fight as a family to deal with the devastating symptoms of Huntington’s disease.

12:20-1 p.m.

I started writing this entry.

1-1:30 p.m.

I ate lunch (tilapia, brown rice, roasted vegetables, olives, and yogurt) and took my midday dosage of my Huntington’s Disease Drug Works supplements (trehalose, Omega-3 fish oil pills, and Coenzyme Q-10).

1:30-1:55 p.m.

I normally take a “power nap” this time of day, but because I slept extra in the morning and need to work on this post, I skipped it in order to write.

1:55 p.m.

I got ready to pick up my daughter from school. I normally spend part of Monday afternoon at home with her as she reads or does homework, and at around 4 p.m. I drive her to her weekly piano lesson. Today we moved her lesson up to 3:15 so that I can prepare for tonight’s support group meeting. I usually leave around 5:30.

3:45

I read an e-mail noting the “lukewarm response” of California Senators Boxer and Dianne Feinstein to the HD Parity Act. We will have to redouble our efforts to get them behind the bill.

6-7:30 p.m.

I attended the support group meeting. Tonight the HDSA-San Diego board made its annual visit to the group to discuss chapter activities and the goal of national HDSA to strengthen ties to the grass roots, providing greater service for HD families. I was happy about the renewed commitment to care.

I also conversed with several HD people. Once again, I looked into the “genetic mirror” – my own probable future as a gene-positive individual.

Big goals – but little ones, too

As you can see, there’s no secret ingredient or spectacular formula for being a Huntington’s disease activist. Such work requires time, focus, and clear objectives.

It also requires a strong belief in the cause. Without commitment, it’s easy to be discouraged and give up.

I constantly keep in mind our overall goals of raising awareness, providing better care for HD-affected individuals and their families, and finding treatments and a cure.

However, along the way we must tackle the many small, intermediary tasks. When each one of us completes these tasks, together we build a movement – and make a difference.

That’s what today was all about for me.

The shadow career

After my mother was diagnosed with Huntington’s disease in 1995, I joined the local support group of the Huntington’s Disease Society of America (HDSA). In 1998, I became a member of the HDSA-San Diego Board of Directors in the cause to raise awareness about HD and the need for treatments and a cure. After testing positive for HD in 1999, I intensified my efforts even further.

As I watched HD destroy Mom’s brain and worried about the inevitable onset of my own symptoms, my activism developed into a second career.

This was a secret career – one that I hid from everybody outside the HD community because of the very real possibility of genetic discrimination in the workplace, and in my field as a college professor and specialist in Brazilian history.

This has been my “shadow career.”

A bombshell

At the start of my first career, I had to keep HD in the back of my mind. I was striving to obtain tenure at my university job. This required complete dedication, with many 12-hour days, lost weekends, and weeks of forfeited vacation dedicated to research and publications, the gold standard of scholarly distinction and advancement.

In the first couple years, I felt completely exhausted, physically and emotionally. Getting tenure is like making partner at a law firm. The institution virtually owns you for the first six or seven years.

Then, just as things were starting to look a little brighter during my third year, I received a bombshell: my mother had HD, and I had a 50-50 chance of inheriting the condition. I could pass it on to the potential children my wife and I were contemplating.

That news transformed my life forever. Since that moment, the threat of HD and its many social implications (for marriage, family, insurance, health care, and income) severely impacted my career.

Focusing on the essentials

I first reacted to the emotional jolt by working even harder for professional success. I was 36, and I knew that I could start getting symptoms in my 40s. So I wanted to squeeze in as much life as possible – even to the point of neglecting my wife.

In June 1999 I tested positive. That was another huge blow. In January 2000, our daughter tested negative in the womb, a huge relief to my wife and me. She was born healthy in June 2000. (Click here to read more about these two genetic tests.)

Along with my decision to join the HDSA-San Diego board, those new, life-changing experiences forced me to change perspective about my career.

The birth of a first child brings most couples a deeper understanding of life’s meaning and responsibilities. The birth of our “miracle baby” especially moved me to focus on the essentials of life.

Sadly, Mom had already lost the ability to talk, and she couldn’t even properly hold our baby on her lap during my parents’ trips from Ohio to our home in San Diego.

As Huntington’s disease attacked Mom, I felt an urgency to get my own psyche in order to become a better father and husband in the potentially very short window of time of good health that remained. I worked extremely hard with my psychotherapist, my “mind coach,” to clear my mind of as much emotional clutter as possible.

Racing against time, I also wanted to multiply my efforts in the HD cause.

Hiding my activism

Juggling a new baby, household, job, and HD activism, I stopped going the extra mile at work.

Even with tenure in hand, this was highly risky. Office politics can often trump competence, as I learned in 2005 during my attempt to obtain a promotion.

So, while genetic discrimination remained my primary concern, I also hid my HD activism from my professional colleagues because I feared some might not sympathize with my predicament.

I have noticed, for instance, that as a man I am not expected to act as the primary caregiver for my daughter, whereas it’s considered perfectly natural for a woman to take on such a role.

In such an environment, I felt it would be extremely difficult for some co-workers to understand my commitment to the Huntington’s disease cause.

Until recently, I’ve kept a near-perfect firewall between my activism and my job. In that respect, the pen name “Gene Veritas” has lent me great protection.

Doubts and guilt

My shadow career looms large.

The extra hours I once spent on my paid job I now dedicate to the HD cause. I maintain professionalism in the workplace, but I no longer strive for the academic glory that can be achieved only with intense, ongoing dedication to intellectual matters.

Lately my secret career has cast a great shadow of guilt and doubt over my life.

In 2007, I had received an excellent job offer at another university, but I turned it down because of the very likely possibility that we will need to depend on my wife’s income when my HD symptoms begin. (Click here to read more.) She teaches in the public school system and, barring a fiscal meltdown, will receive a generous pension. So my wife and I have decided to make a stand in San Diego.

But the question rankles in my mind: what would my career have been like without HD? What new opportunities might our family have encountered had I been able to advance on a regular basis?

We are financial prisoners of HD. Long ago we abandoned our goal of a summer (and eventually retirement) home in Brazil, my wife’s country and where she could fully enjoy her home family and culture without having to rent as a short-term visitor or rely on relatives for lodging.

As my wife and I are constantly reminded, HD has robbed us of many dreams.

Public appearances

Recently I started taking my activism to an even higher level – and in public.

On February 7, I delivered the keynote address to the 6th Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative."

On May 7, I will speak at the convention of HDSA’s Northern California Chapter. And on May 17, I will make a presentation in Cambridge, MA, at Alnylam Pharmaceuticals, which hopes to bring a potentially revolutionary treatment into human clinical trials within the next year or so. At both events I will speak on the topic of my activism and coping with HD.

I will visit HDSA national headquarters a couple days later, and in June I am tentatively scheduled to appear as an HD community representative at a Huntington’s disease meeting at the National Institute of Neurological Disorders and Stroke (NINDS) in Washington, D.C.

Crashing in the fog

As I come out of the shadows, this second career could completely overshadows my regular job.

This huge transformation in my activism has preoccupied me now for more than a year.

The other day it left me so emotionally foggy that I became distracted while driving and accidentally crashed my brand new car (!) into a wall. I was okay, but the mishap caused $1,600 in damage to the vehicle.

Just a couple days later, I almost rear-ended another car as I drove down a familiar street.

In the case of several HD people I know, frequent, seemingly inexplicable car accidents or other driving difficulties were one of the first signs of symptoms.

Are my symptoms starting?

Or, as a friend pointed out, am I a “multi-processor” with much on my mind? (After all, I crashed a previous new car into a wall shortly after I received my HD test results. That was long before any symptoms were expected to occur, but I was unnerved.)

Part of the fog comes from the deep sadness I feel as my first career becomes less and less significant. And that causes the guilt about that career to increase.

No time for wavering

In Palm Springs, I spoke on the topic of “unmasking Gene Veritas” and reintegrating the two, until now separate parts of my life.

Since then, I have also have begun thinking of possible ways to integrate my two careers.

So much is on the line: my life, the lives of my wife and daughter, the lives of tens of thousands of HD-affected and at-risk individuals and their families.

As I completely abandon the shadows, I must resolutely overcome doubt and guilt. It is not a time for wavering. It is a time for conquering Huntington’s disease.

Unmasking Gene Veritas: a Huntington's disease activist goes public

After 15 long and often painful years, I have taken off the mask that led me to use the name “Gene Veritas.”

I have left the darkness surrounding Huntington’s disease.

At 5 p.m. on February 7, 2011, I gave the keynote address at the Sixth Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative.”

About 250 prominent scientists, physicians, drug company representatives, and others listened to my speech, which was titled “Blog Entry 85 … Unmasking the World of Gene Veritas: An Activist Copes with the Threat of Huntington’s Disease.”

I was introduced by Robi Blumenstein, the president of CHDI Management, Inc., the organization that implements the foundation’s goal of finding treatments and a cure for HD. The meeting took place at the Parker Palm Springs hotel in Palm Springs, CA, from February 7-10.

Vanquishing disease

I revealed my real name. I described my family’s struggles with HD, my personal challenge to live a healthy, balanced life under severe pressure, and how, while maintaining a career and family, I have dedicated my life to ending the threat of this cruel disease.

And I saluted the scientists in the room and around the world working hard to find treatments and a cure. I urged them to redouble their efforts.

“You and I – the HD-positive man and the community of HD researchers – you and I stand on the cutting edge of science and of history,” I declared. “Because, in conquering HD, you are going to hold out the hope of a world in which disease is vanquished.”

At the end of this article I have posted a home video of my speech. (A professionally edited version of the video will become available in the near future.)

A liberating feeling

I have stepped decisively out of the HD closet.

But “Gene Veritas” will still live on in cyberspace. That powerful name – the “truth in the genes” – has become my trademark. Through its anonymity and universality, it symbolizes the common struggles of families threatened by HD and numerous other neurological and genetic diseases.

In my speech, I spoke of the need for HD activists to liberate the entire community from the darkness and stigma surrounding HD. Before my speech, I wrote that I felt like an “alien” because of that stigma (click here to read more).

Now, however, I feel liberated.

Not time to rest yet

To say the least, it was a momentous week for me.

For now, I just wanted to share with you the speech.

Soon I will post another article exploring the impact of the speech and its implications for my future. I will post other articles and videos about the CHDI meeting, the “Super Bowl” of Huntington’s disease research.

The speech was a milestone. But the task of treating and curing HD still remains.

Scientists have made great progress, but we cannot rest until we reach our goal. For so many of us, time is short.

Unmasking Gene Veritas: a Huntington's disease activist goes public from Gene Veritas on Vimeo.

Feeling like an alien: going public about Huntington's

How do you overcome the stigma and fear of discrimination associated with a brain disease that could leave you horribly disabled?

I’ve struggled with this question constantly since my mother’s diagnosis for Huntington’s disease in 1995. HD caused her body to move uncontrollably and robbed her of the ability to speak, eat, and think. She died in February 2006.

My fear of HD and discrimination increased exponentially after I tested positive for the disease in 1999.

But in 2010 I started to come out of the HD closet. After turning 50 and putting in twelve years as an activist for the Huntington’s Disease Society of America (HDSA), I believed it was time to speak out. I also felt encouraged by the passage of the Genetic Information Nondiscrimination Act of 2008 and last year’s new healthcare legislation, which will ban the exclusion of people with pre-existing conditions from health coverage.

I took two very big steps last year. In June I revealed my gene-positive status in public for the very first time, and in September I gave a presentation on my family’s struggle with HD at Vertex Pharmaceuticals.

Going fully public

Now I am preparing to go fully public. On February 7, I will deliver the keynote address to Huntington’s researchers from around the world at CHDI’s 6th Annual HD Therapeutics Conference at the Parker Palm Springs hotel in Palm Springs, CA.

Starting the day after Super Sunday, this event is the “Super Bowl” of HD research. The CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative,” is the largest private sponsor of HD research.

CHDI is going to record my speech and very likely place it on the web.

For the first time, the greater HD community – and anybody else who watches the video – will know my real identity.

New burdens

So I’m scared!

Living in the closet was comfortable. It allowed me to deny the “truth in my genes” to both myself and my friends and acquaintances.

But after February 7, I’ll take on new burdens, including the deep misunderstanding many people will likely have about an unknown, complex, genetic, and deadly disease.

For years I’ve played through my mind all kinds of scenarios about coming out and people’s reactions to it.

Starting next week, I’ll be dealing with the reality of coming out.

Dual identities

To help me get ready for the CHDI speech, I read the graphic novel It’s a Bird …, written by Steven T. Seagle and illustrated by Teddy Kristiansen. The 2010 CHDI keynoter, Seagle is from a family affected by HD.

Seagle’s story about a man’s fear of HD, which afflicted the main character’s grandmother, strikingly resembles parts of my own family’s story – and that of so many other families struggling with the stigma of HD.

Steve, the main character and a comic-book writer, is like Clark Kent/Superman: he has two identities, one public and one secret.

But while many people identify with Superman, Steve hates him. The dual identity painfully reminds him of Huntington’s disease as he struggles to come to terms with his own at-risk status and his parents’ cover-up of the disease. This predicament sometimes leaves Steve downright miserable and unable to share his feelings with his girlfriend or anybody else.

I, too, live with a painful dual identity – my HD world and non-HD world.

HD ‘aliens’

Steve narrates the story of the day he visits his aunt, who lies gaunt and twisted in bed as she goes through the final stages of HD (boldface in original):

You can shield a child’s eyes from this, but as an adult, there is no looking away.

What you see, immediately… What you know… Is that there’s no good thing to hope for a Huntington’s patient. If you hope they’re fine except for their body – you’re condemning them to a life sentence lived out inside a useless shell.

If you hope they’re vegetative and mentally gone – then you’ve damned them to a meaningless living death.

And the concerns compound when you own up to the fact that in another twenty years … this could possibly be you…

With your kids looking down at your twisting, writhing body and wondering the same thing about you …

… And themselves…

… Because this is not a condition you could hide like a rash, or a tumor secreted on the inside.

This disease sets you apart, marks you as different …

… Alien.

Superman is an alien.

I feel like an alien with my HD-positive status.

How are people going to react? Will people at work question my ability to perform? Will people make discriminatory comments? Will my 10-year-old daughter hear jokes at school?

And how will I react to people’s reactions?

Seeking support

On January 24 I participated for the first time in several years in the local HD support group’s breakout session for at-risk individuals.

My HDSA activism began through support group in the late 1990s, and, last year, I decided to return to my roots in the organization by resigning from the board of directors and dedicating more volunteer time to support.

In the past I gained much from this group. Now I want to give back.

At first I felt strange sitting with the two facilitators and two other at-risk individuals.

But I also opened up about my deep fears about going public.

I was once again struck by the undeniable reality of HD.

As I take the fight against HD public, I’ll need more support than ever.