Thursday, April 29, 2010

Ten reasons to cure HD

Huntington’s disease? Never heard of it. Why should I care?

As with so many diseases, once you learn a bit about HD, you get a twinge of fear and sympathy. But in our hectic world it seems insignificant. Yes, an estimated 30,000 Americans have HD, but millions suffer and die from cancer, heart disease, and AIDS. Whereas Rock Hudson’s death from AIDS and Michael J. Fox’s diagnosis of Parkinson’s disease gained great publicity for those causes, HD lacks association with a celebrity.

But numbers and publicity are deceiving. The story of HD is far more compelling and complex than most people could imagine.

As the Huntington’s Disease Society of America prepares to mark HD Awareness Month in May, here are ten reasons why we need to cure HD now.

1. HD kills. While many diseases can be treated or cured, HD cannot. The 30,000 individuals affected will die a slow, ugly death. As it destroys the brain, HD robs people of their ability to walk, talk, think, and care for themselves. HD strikes people in the prime of life. Many kids and teens also get it.

2. HD threatens many people. In the U.S. at least 150,000 more people are at risk and will die if they get HD. Worldwide nearly a million people have HD. It affects both sexes and all ethnic groups.

3. HD painfully strikes at families. Every day tens of thousands of caregivers and relatives carry the difficult burden of helping their ill loved ones do simple tasks like bathe, eat, and dress. Looking after a person with HD is like caring for a toddler who doesn’t grow but rather regresses. Moreover, it splits families that disagree about whether to learn their fate or to live without knowledge of a gene-positive status.

4. HD results from a genetic defect. We all have the huntingtin gene, but in some people it has mutated. Because HD is purely genetic, the children of an affected parent have a 50-50 chance of acquiring it. The defect is not merely a tendency; its presence inexorably brings on the illness.

5. HD involves major ethical issues. Those in the HD community have long suffered great discrimination such as job loss and denial of insurance, even though the disease is officially considered a disability. In the post-genomic world, HD raises questions about the ownership and use of genetic codes, medical confidentiality and insurability, access to new treatments and cures, and the increasingly sensitive issue of genetic testing for people at risk and their unborn children.

6. HD is a model disease. HD is on the cutting edge of biotechnology. The ten-year quest to discover the HD gene, concluded in 1993, was a crucial stage in the Human Genome Project. The hunt generated many new research techniques, the discovery of aberrant proteins that harm the brain, and the production of revolutionary “transgenic” HD mice. Today companies such as Isis Pharmaceuticals, Inc., of Carlsbad, CA, are experimenting with the latest emerging generation of potential drugs in the effort to stop HD at its genetic roots. HD research generates extraordinary teamwork in the usually ultra-competitive scientific community. Dozens of labs and doctors from around the globe and thousands of families afflicted with HD participate in the effort to find a cure.

7. HD is about the brain. HD research increases understanding of our most vital organ.

8. HD research helps many other diseases. HD research has had an impact on the study of cystic fibrosis, Lou Gehrig’s disease, some forms of diabetes, and other diseases and neurological disorders. HD research could help stop Alzheimer’s, Parkinson’s, and the effects of stroke. Successful treatment of these many diseases will lower taxes and health insurance costs for everybody.

9. HD is an “orphan” disease. Historically, large drug companies have preferred to focus on products that reap huge returns and publicity but do not save lives. Despite its scientific importance, HD research receives relatively little government money. HD highlights the need to value lives over glamour and profit.

10. HD’s cure offers hope for a disease-free world. Woven genetically into every cell of those it affects, HD is a horrible killer of the brain. Although the process is painstakingly slow for families hit by HD, the research is making great strides. In the biotechnological era it is time to speak of a new human right to be free of disease. The treatment or cure of this most puzzling illness will be a historic breakthrough leading to a better quality of life for all.

Help spread the word now about the urgent need to stop HD by sending your relatives, friends, and co-workers the link to this article.

Saturday, April 17, 2010

The point of no return

I awoke this Saturday morning at 6 with a burst of energy after just five hours of sleep and another poignant dream about Huntington’s disease. I immediately started thinking about one of the toughest dilemmas I have faced in living with a gene-positive status for HD: how do you come out of the closet about a condition that will deeply (and instantly) alter people’s perceptions of you and your ability to work and interrelate?

About a year ago I convinced myself that I should probably exit the closet sometime in 2010. I tested positive for HD in 1999, and my mother died of the disease in 2006 after living with it for about 20 years. I remained in the closet all these years to protect my career and insurance coverage, and to avoid other kinds of discrimination, and to shield my family. Last year I turned 50, now past the age (around 48) at which my mother apparently started showing the early symptoms of HD, such as mood swings. I don’t have any apparent symptoms, but that will someday change. I want to go public with my HD advocacy before I lose the ability to write and speak. It’s a race against time.

In my dream I have returned alone to my alma mater, Yale University, to take a year’s worth of classes just for personal enrichment. This was about the fourth such dream I have had in the past couple years as I’ve thought ever more intensively about coming out of the HD closet.

Silence and misperceptions

In this particular dream I am having difficulty keeping up in two of my four courses. In fact, I’m not even going to class very much. I’m spending much of my time reading, thinking, and, as in the other dreams, walking around the campus pondering my life as a middle-aged man as I observe young people ambitiously making their way in a busy, world-class intellectual center.

I quietly go about my business. But people begin to express dismay at my apparently lackadaisical attitude about my course work. They seem to be saying that it isn’t fair for me to slack off when so many other people are working hard.

At first I don’t pay much attention. Nobody knows that I am at risk for Huntington’s disease. If they did, they would understand my need for pure enjoyment of what Yale has to offer rather than the pursuit of a grade or a diploma.

But I also understand that an institution has rules. The fact that I’m apparently ignoring them with such nonchalance makes me look bad.

Support from the president

I decide to open up about my concerns with one of the academic deans. As I’m about to speak with him, the president of the university arrives and takes command of the situation.

In the dream the president is none other than A. Bartlett Giamatti. Most people know Bart Giamatti as the Commissioner of Major League Baseball and the man who banned Pete Rose from the sport in 1989 because of allegations of gambling and tax evasion. Just eight days later Giamatti died of a massive heart attack at the age of 51, and before he had spent even a year as commissioner. Giamatti is also the father of famed actor Paul Giamatti.

But before baseball Giamatti had a long career as a professor of literature at Yale. He served as its president from 1977 to 1986.

I vividly remember shaking his hand on two very important occasions in my life: at a reception welcoming new freshmen in 1978 and on graduation day in 1982.

In my dream Giamatti already knows about my Huntington’s disease predicament and takes an intense personal interest in assisting me with my need to take courses strictly for personal fulfillment. The institution will support me.

A link with Giamatti

In reviewing Giamatti’s life, today I learned that he suffered from Charcot-Marie-Tooth disease, one of the most common of inherited neurological disorders. Whereas one in 10,000 Americans has HD, one in 2,500 has this condition. (That’s an estimated 2.6 million people.). Like HD, it is genetic: children of the affected have a 50-50 chance of inheriting it. The disease weakens the foot and lower leg muscles and can lead to severe deformities and pain. Like HD, there is no cure.

How strange and ironic! A dream about my harsh reality leads me to discover that another real person and his family have faced a similarly harsh reality. I wondered if Paul Giamatti and Bart’s two other children have Charcot-Marie-Tooth disease. At least it does not affect the brain and is not fatal.

Juggling demands and joys

My dream reflects my daily struggle to juggle the many demands in my life – family, work, health, HD activism – while seeking to enjoy it while I’m still able to.

My worries about people’s perceptions are very real. If I go public, I will open myself to sympathy for my condition and praise for my activism but also potential criticism at my office that my passion in life is not my work but stopping disease. The institutional Yale of the dream is a metaphor for the institution where I work. I will have yet another psychological ball to juggle.

The pursuit of personal enrichment signals my efforts to squeeze as much out of life as possible before the inevitable symptoms of HD begin. In fact, the past couple weeks I have stayed up late reading guidebooks and surfing the Internet in preparation for a month-long, cross-country car trip that I will take this summer with my wife and nine-year-old daughter.

I am very excited about this trip. Cross-country trips have a special place in our country’s history, and I want to bond with my wife and daughter as I have never before, as we explore the country in which I grew up and that my wife has adopted as her own after emigrating from South America to marry me. We are both immensely happy that our daughter tested negative for HD while in the womb. For me the trip is a magical moment of opportunity to share life fully with my daughter while I’m still symptom-free.

Bold initiatives

My agitated dreams and urgent plans are fueled by the urgency to stop Huntington’s disease, one of the core goals of my life. This particular dream came after a week dominated by my work as a board member of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego). (I am not among those listed on the chapter website.)

At our monthly meeting on April 13 we had a spirited discussion about our plans for May, national Huntington’s Disease Awareness Month. On May 3, we will hold the first press conference in the 32-year history of our chapter. We’ll be launching a bold campaign to double our fund-raising for this year with a target of $500,000. No chapter has ever raised so much.

On April 15 I called a professional colleague in South America who has invited me to make a speech about my field of work. I want to use this speech, scheduled for mid-June, as practice in going public. I received the go-ahead to talk about a personal situation, although I haven’t yet revealed the topic. The call was difficult, because I have always kept an absolute firewall between HDSA and my job. This was the first time that I ever mixed Huntington’s disease advocacy with work. (Just a few weeks ago I revealed my HD status to a professional colleague for the very first time. I trust him because he’s also a friend.)

Whither “Gene Veritas”?

That same day I also had a deep conversation with my psychotherapist about the implications for this blog when I come out of the closet. I told her of my plans to establish a personal website touching on all aspects of my life and writing, including this blog.

“Gene Veritas” is a unique trademark that I’m extremely comfortable with. Using a pseudonym allows me to express myself fully and freely.

I wondered: will I lose this freedom when I go public? What will happen to “Gene” and to the “other me”? Both of us could change profoundly. For the first time I raised these questions explicitly with someone outside of my inner circle of family and friends. Only the future will tell.

Visiting the hospital

Yesterday I delved into HD yet again by visiting Edgemoor Hospital in the neighboring city of Santee. A public facility, Edgemoor has taken in scores of HD patients over the years. I always fear going there, because I know I could end up there someday. (More on this fear in a future blog entry.)

At Edgemoor several of us from the HDSA-San Diego board helped with the filming of a video of HD patients and care-giving and at-risk relatives.

It was an emotionally wrenching experience. I watched as board member Bill Johnston attempted to interview a 51-year-old woman who appeared to have mid-stage HD. Every moment painfully reminded me of my mother’s situation. The woman could speak a little but either did not understand or simply could not answer most of Bill’s questions. Even though she had three at-risk children, she didn’t know – or had forgotten – that genetic testing was available.

Bill turned to me and asked if I had any suggestions. I remembered that my mother, although silent most of the time, could suddenly recall many facts from her youth and converse about them. Bill tried this approach. Sadly, however, it did not work.

A photographer and I then went with the woman to the hospital garden to get some still photos of her. After he asked her to sit down on a large rock, she lost her balance and began to slip off. We sprung to her rescue and pulled her up. I remembered how easily my mother used to fall. Once she broke her wrist; another time she sustained a gash on her head. We then went to the woman's room for some more pictures. She and I talked a little about family photographs tacked on a small bulletin board. Sadly, I learned from her that her husband (or perhaps ex-husband) does not visit her.

How lonely, I thought, to live in a hospital without attention from loved ones.

Not ready for the camera

Back in the room set up for filming I watched Bill and his wife Ramona get ready for the next interview. Ramona has had HD for more than a decade. Bill gently got her out of her wheelchair and straightened her hair for the camera. A resident of Edgemoor now for several years, Ramona can no longer speak.

I felt my stomach tighten and tears well up in my eyes as Bill recounted how HD had torn into the prime of his family’s life. His two children learned of their mother’s status just as they entered their teen years. His son tested negative at 18, but only after starting to live as if he had the disease. Bill’s daughter, a college student, hasn’t gotten tested yet.

“We need an at-risk person,” Bill said about the content of our video.

I thought for a moment: should I volunteer?

No, I told myself, the time had not come yet to go on camera. I am developing a specific plan for going public and must follow through logically and intelligently. I kept quiet.

Enjoying blessings

Luckily, Kari Hartmann showed up shortly thereafter and volunteered. Kari, 20, is at risk. She and her cousin Sharon Shaffer, who has HD, went on camera.

I hugged Sharon for a long minute. She is my sister in HD. We met many years ago in the “at risk” discussion section of the local HDSA support group.

Yesterday we asked each other about how we were doing. Sharon is about 44 and has had symptoms for several years. She can converse normally, and she still writes beautifully. But she had to leave her job a couple years ago and can no longer drive. “I feel blessed that I don’t have symptoms yet,” I told her.

“I feel blessed, too,” she said. I didn’t ask her why she felt this way, but I could tell that she was enormously happy about her ability to keep speaking. On April 30 she, Kari, Sharon’s husband Renato, and a host of other family members and HDSA-San Diego volunteers are putting on a benefit golf tournament in preparation for Renato’s Race Across America effort in June. Renato and three other men will traverse the country on bikes to raise money and awareness for the Huntington’s disease cause. Sharon is in the thick of the preparations for the tournament and the race.

The HD portion of my day still wasn’t done. Over dinner I had a long conversation with fellow board member Allan Rappoport about HDSA-San Diego matters, including strategies for passing the all-important H.R. 678, The Huntington’s Disease Parity Act of 2009. If passed, this federal legislation would make it easier for HD patients to obtain Social Security and Medicare benefits.

“One Too Many”

Back home, I sat at my computer to tend to HD matters. It was yet another late Friday night on the HD barricades. I spent a few hours helping edit the press release for our May 3 press conference on HD Awareness Month and the big fund-raising goal.

Our theme is “One Too Many.” “With ‘One Too Many’ we want to tell the world that the time has come to put an end to this deadly disease,” a draft of the release goes. “One person, one family suffering from HD is already one too many. We have set our goals high because we know that once people learn about the devastating nature of Huntington’s disease, they’ll realize they can make a tangible impact on the cure and in the lives of more than 30,000 people currently suffering from HD, some 250,000 at-risk individuals, and the thousands upon thousands of family members and loved ones touched by the disease.”

I had no sooner finished my work than a chat-room pop-up appeared on my screen. Another big part of my week (and of the last few months) has gone to networking with other HD-affected families, patients, and at-risk people via The pop-up indicated that Scott Tolleson of Kilgore, Texas, wanted to chat. He sent me a link to website about his son Micah.

Micah Tolleson before his surgery on April 15 (photo from family website).

Scott is gene-positive for HD. In one of those terrible twists of life, 22-year-old Micah recently started having outbursts of anger and suicidal thoughts. Doctors discovered that he had developed a brain tumor. Although ultimately determined as benign, it still affected Micah’s brain. He underwent surgery on April 15 and is now recovering.

The doctors also decided to test Micah for HD. Scott informed me late Friday night, April 16, writing directly from the hospital: “My son just tested pos.”

Micah Tolleson is one too many living at risk for HD. Everybody in this predicament is one too many!

The point of no return

Today I take yet another big step towards exiting the HD closet. My readers now know where and when I attended college.

My Huntington’s disease story – including my ties to an increasing number of people who share this struggle with me – is inevitably intertwined with my past. As I venture out of the closet and into the future, that past will continue to impact my life and the quest to end HD.

I feel that I am approaching the point of no return. The more I share about my life, the more difficult it will be to keep up firewalls between my HD activism and the other components of my life.

I, too, have been one too manyone too many people forced to live in the closet because of the fear and stigma raised by Huntington’s disease.