Friday, December 24, 2010
I tested positive for the HD gene in 1999, and my mother died of the disease in early 2006 at the age of 68. I don’t know exactly when her symptoms began, but, as I look back, it seems that classic early signs such as mood swings and depression began in her late 40s.
I turn 51 on December 31, and I’m getting closer to the point at which my mother started having chorea, or the trembling of the limbs, one of the major symptoms of Huntington’s.
In order to monitor my health and strategize on ways to avoid onset of the disease, each year I undergo an examination at the Huntington’s Disease Society of America’s Center of Excellence for Family Services and Research at the University of California, San Diego. On December 14, I went through an intensive, two-hour battery of cognitive testing at the center. This past Tuesday, December 21, I was examined by one of the center’s physicians.
He found no evidence of chorea, and he informed me that my 2010 cognitive results matched the 2009 tests.
So I remain stable!
I felt enormously relieved.
The visits are extremely stressful, because there are no treatments for the root causes of HD. Symptoms eventually appear in all gene-positive individuals.
Onset would mean that I would begin a steady decline towards death. My mother’s symptoms got steadily worse. During the 15 years (or more) of the disease, she lost the ability to walk, talk, think, and swallow. She was only a faint shadow of herself when she died in a nursing home.
So I realized once again that every extra moment of good health is a bonus.
A winning team
The doctor recommended that I maintain my routine.
Since 2004 I have taken the main supplements recommended by the Huntington’s Disease Drug Works (HDDW) program: trehalose, creatine, coenzyme Q-10, omega-3 fish oil pills, and blueberry concentrate pills. Although there is some evidence suggesting these substances could affect HD, at this point there’s no way to prove that they have actually helped me.
But, the doctor said, they might be helping me to remain stable.
HDDW used to cover the cost of the supplements but is no longer doing so. I will have to shell out two or three thousand dollars annually to pay for them. Because they’re not officially approved remedies, insurance won’t cover them.
Nevertheless, the doctor said the cost is justified.
I agree. There’s a saying I learned in following Brazilian soccer: you don’t mess with a winning team.
In my case, the team includes far more than the supplements: pills to avoid depression and anxiety, psychotherapy, exercise, dedication to my family, the nurturing of my faith and spirituality, and sharing my journey as an HD-positive person through this blog.
The need for hope
In writing this, I must admit that part of me feels enormously guilty.
So many others in the HD community already experience terrible symptoms. Young, at-risk people struggle with the news of their parents’ diagnoses and decisions about genetic testing, and newly tested individuals who are gene-positive suddenly fear a dark future.
Will my desire to celebrate a symptom-free Christmas and New Year’s Eve make others in the community feel even more frustrated with their helpless predicaments?
Probably not. People in our community are generally very understanding and sympathetic with a whole range of situations. But I feel so badly for others – and want even more badly for a cure to come soon.
We in the HD community we all need hope – especially at this time of year.
I may never know why in the year 2010 I did not have symptoms. In 2011 they very well could start.
But my lack of symptoms could very well serve as a piece of evidence in the mystery of HD and the search for treatments and a cure. That, after all, is a big reason why the results of my cognitive testing go to the researchers.
And I want to help others.
A gift of health and time
On the brighter side, my current state of stable health will permit me to continue the fight for greater awareness about Huntington’s disease and the quest to end it.
As I noted in my previous entry, on February 7, 2011, I will represent the HD community as I give the keynote speech before scores of scientists at the “Super Bowl” of Huntington’s research.
More than ever before, I’ll be putting myself in the public eye and calling fervently for a cure.
Thanks to this year’s best Christmas present of all, I can carry out that mission with a strong and clear voice.
Thursday, December 16, 2010
I will humbly but purposefully attempt to meet this challenge when I give the keynote speech to Huntington’s disease researchers from around the world at CHDI’s 6th Annual HD Therapeutics Conference at the Parker Palm Springs hotel in Palm Springs, CA, on February 7, 2011.
I recently received the formal invitation to speak from Robi Blumenstein, the president of CHDI Management, Inc., which implements the goals of the CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative.” Funded by an anonymous donor who has put tens of millions of dollars into the project, CHDI functions as a virtual biotech company and is the leading private source of HD research funds.
The conference will begin with my speech on the night of February 7. Taking place one day after professional football’s Super Sunday, the four-day CHDI conference serves as the “Super Bowl” of Huntington’s research.
At last year’s 5th annual conference, which I attended (click here to read more), several hundred scientists participated. Dozens gave presentations regarding the latest breakthroughs in understanding HD and finding drugs to stop it. Representatives of the Huntington’s Disease Society of America (HDSA) and the HD associations of other countries, as well as individuals from affected families and pharmaceutical companies, participated in the meeting. Another turnout of several hundred is expected for 2011.
An energizing task
Robi first mentioned the possibility of me as a keynoter during the 2010 conference. Robi, a regular reader of this blog, and I had met in July 2009, when I spent a day at CHDI’s research headquarters in Los Angeles (click here to read more). Since then, we have periodically exchanged ideas about the HD cause.
The idea of taking on such an important task energized much of my Huntington’s disease advocacy this year. I have been thinking intensely about the speech ever since. I’ve written most of this year’s blog entries with an eye to garnering ideas for the keynote.
It’s a huge responsibility, because, for 60 minutes, I will be representing the HD community. It’s now abundantly clear that HD-affected families and the scientists are inextricably linked. The families need the scientists to stop HD, and the scientists need the families to confirm their research through clinical and observational trials.
Just this past Tuesday, December 14, I did my annual battery of cognitive testing at the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego. For two hours, under the guidance of a volunteer pre-med student, I performed such exercises as repeating series of numbers forward and backwards, creating lists of words beginning with a particular letter, and discerning patterns of diagrams.
These tests help measure whether symptoms such as dementia have begun, and they provide raw data to researchers studying brain imaging and other aspects of HD.
Finding a new dimension
In my speech, I will need to illustrate the many common challenges faced by HD families. This year I’ve become especially attuned to the suffering of affected and gene-positive individuals by spending many hours reading the stories they have posted through Facebook HD groups such as “Ri Hdsa” and “hd family.”
As I write my speech, I’ve followed the fate of a child hospitalized with severe juvenile HD and read the messages of a young, affected woman fearful that she’ll never be loved and be able to have children. There are many other stories like these.
I also must prepare a speech that brings the human side of the disease home to the researchers who are accustomed to focusing on their lab work. Building on past keynote speakers such as the HD-positive former NBC correspondent Charles Sabine, I must discover a new dimension of the presymptomatic HD person and provide the scientists with some new insight into the disease and their goal of eliminating it.
Exiting the HD closet
At the keynote, I will take my biggest step ever out of the HD closet. I long remained in that closet for fear of discrimination at work, on insurance questions, and in the health care system.
As I did in Brazil in June and at Vertex Pharmaceuticals in September, I will speak in public using my real name. The first two speeches didn’t receive any outside publicity beyond my blog, but my CHDI presentation will be seen by people from around the world and likely generate comments on the web. I am also mulling whether to post a video of the keynote on the web.
I made the 2010 talks and other forms of more public advocacy a trial run for the CHDI talk and the likely greater impact it will have. In the coming days I also will consult trusted friends and professional colleagues on the question of exactly how to become more public and how to deal with the effects, both positive and negative.
So far, speaking out publicly has helped make more people aware of HD, but it has also caused me stress as I worry about long-term, as yet unforeseeable consequences on my family, my job, and my psyche.
A pivotal moment
At this moment, three important points in my life are converging: the end of an extremely busy and productive year on the HD front (for me personally and for the cause as a whole); the holidays and my 51st birthday on December 31; and my preparation to kick off the CHDI Super Bowl.
The holidays will be especially poignant because this December 26 marks the 15th anniversary of the day I received the news of my mother’s diagnosis. February 13 – one week after the CHDI meeting – will mark the fifth anniversary of my mother’s death.
The CHDI keynote will be a pivotal moment. In many respects it marks the culmination of those 15 years of my personal battle to avoid Huntington’s disease and to build support for the cure.
My life’s mission
This speech symbolizes my life’s mission: a personal struggle against a cruel and fatal disease that cut short my mother’s life at age 68 and likely will similarly inflict itself on me – and, somehow, a joining of hands with the researchers pioneering the newest frontiers of science in order to unlock the mysteries of Huntington’s and by extension other brain diseases.
The aftermath will open a new phase in my life as I seek to become a more effective advocate. This will involve the big effects of becoming ever more open about my HD-positive status, but also the small effects of action in one-on-one conversations, in venues such as the local HD support group, and in writing about the scientific work that I fervently hope could save me and thousands more from the ravages of Huntington’s.
Wednesday, December 08, 2010
Vertex Pharmaceuticals is a prime example of this trend, which includes such firms as Isis Pharmaceuticals, Inc., and Alnylam Pharmaceuticals.
In mid-2008 the San Diego unit of Vertex began a project to find ways to block the actions of mutant huntingtin protein, which causes the death of brain cells.
Today two small teams of scientists devote themselves full-time to the HD project at this important drug discovery firm. Although they stressed that the project is still very much in the early stages, Vertex scientists spoke enthusiastically about their plans to decipher and attack the disease.
Looking for a pill
The project originated with a collaboration with CHDI Foundation, Inc., the “cure Huntington’s disease initiative” backed by an anonymous donor, but Vertex has branched off on its own and has continued Huntington’s research with internal funding.
“We’re very early (in the research),” said Paul Negulescu, Ph.D., Vertex vice president for research and the site head of the San Diego facility. “But we do believe that it may be possible to influence the course of this disease with small-molecule therapies in the years ahead.”
By “small molecules” Dr. Negulescu means that Vertex aims to produce a pill or series of pills that HD people and gene-positive individuals could take to control the effects of mutant huntingtin. Pills represent a far less invasive method of treatment in comparison with others such as an injection, the insertion of a catheter into the brain or the spinal cord, or an operation.
Lessons from cystic fibrosis
Vertex hopes to extend its research on two promising drug candidates for cystic fibrosis (CF) into the Huntington’s field.
Like HD, CF is a genetically caused condition in which proteins malfunction. The potential drugs help a key protein in CF do its job of keeping the airways of the lungs moist and therefore capable of fighting off dangerous bacterial infections, the most devastating, and ultimately deadly, symptom of CF.
One of those candidates, VX-770, is already in Phase III clinical trials. Vertex will review the data from the trial in the first half of 2011. If successful, the company will then seek approval from the federal Food and Drug Administration (FDA) to market the drug, which would be taken as a pill.
The community approach
Vertex collaborated closely with the Cystic Fibrosis Foundation and the CF community to develop VX-770 and its other candidate, VX-809.
“We’re going to apply the best science that we can and learn the lessons that we can from the CF program, not only scientifically but in terms of how to work with a disease community that is focused on a single disease,” Dr. Negulescu said of the HD project.
“There are many things that a community brings to a research effort – not only patients and their passion about their disease and helping us understand what’s really important to them, but also to basic research, and, in some cases, like with CHDI and our early efforts with them, access to funding. All of that comes together to create a better chance for success, to make progress on the disease. That’s our model. That’s how we want to go after it, as a community, as a network.”
As part of this community approach, Vertex invited me to present my story about living gene-positive for HD. On September 24 I gave a talk before 50 Vertex employees. It was titled “Gene-positive for hell: my family’s struggle against Huntington’s disease." (Click here to read more.)
On October 22 Dr. Negulescu and nine other Vertex scientists attended the tenth annual Celebration of Hope Gala of the San Diego chapter of the Huntington’s Disease Society of America. It was the largest contingent of scientists from a single company in the history of the fundraising event. (Click here for my account of the gala.)
Going after ‘smaller diseases’
Vertex also focuses on drugs for the alleviation of viral diseases, pain, cancer, autoimmune disorders, epilepsy, and inflammation.
Recently Vertex’s completed three large Phase 3 trials of one of these drug candidates, telaprevir, in people with hepatitis C. Based on the Phase 3 results, Vertex recently applied for approval of telaprevir from the FDA. (Click here to read a news report on telaprevir.)
“One of the hallmarks of Vertex is that we’re willing to go after the smaller diseases,” said Beth Hoffman, Ph.D., the Vertex vice president of biology and the coordinator of the HD program. "We also are willing to dig into the biology of the disease in order to make better drug candidates.”
Dr. Hoffman (photo by Gene Veritas)
HD has become important for Vertex “because scientifically there’s a good basis of understanding for what causes this disease, the genetics,” Dr. Negulescu said. “We’re taking this seriously as a disease and as an early-stage research program.”
As in CF and many other diseases, scientists believe that malformed, or “misfolded,” proteins are the culprit in Huntington’s.
Vertex researchers are trying to observe whether misfolding occurs in HD and to what extent.
They are also looking for ways to reduce the amount of the huntingtin protein in cells. They have already made some progress on this front, but they must also find a way for a drug to differentiate between normal and mutant huntingtin. Ideally, the drug would reduce the effects of mutant huntingtin while leaving normal huntingtin alone or only minimally affected.
Huntingtin exists throughout the body and is essential for life, although scientists have yet to understand exactly what it does. Part of Vertex’s work is to help unveil that mystery.
“The CF program gave us confidence that a small molecule can affect the fate of the genetically impaired protein, to have it do what it’s supposed to do,” said Dr. Negulescu. “It might be possible to do the same thing with the huntingtin protein.”
On the cutting edge
One of the San Diego unit’s greatest strengths is its expertise in high-throughput screening (HTS), the automated, rapid testing of compounds. HTS allows the researchers to test the effect of hundreds of thousands of compounds on brain cells placed in tiny wells. The CF researchers used HTS to discover VX-770 and VX-809.
Dr. Hoffman demonstrates the preparation of a plate for use in the high-throughput machine at her left as HD team leaders Dr. Branka Mitrovic and Dr. Mike Liu look on (photo by Gene Veritas).
Dr. Negulescu described HTS as “sort of like panning for gold,” but at a very high speed.
“What we’re doing is really on the cutting edge of what’s out there in the HD field,” Dr. Liu said.
The San Diego unit stood among the early pioneers of HTS when it was known as Aurora Biosciences in the 1990s. In 2000 the Hereditary Disease Foundation of Los Angeles, which also focuses on HD, contracted with Aurora to do one of the very first high-throughput screenings of compounds for potential treatments in HD (click here to read more). Vertex, which is based in Cambridge, Massachusetts, acquired Aurora in 2001. Vertex was founded in 1989.
Helping brain cells
Another facet of the HD project involves neurogenesis: the repair of damaged brain cells or the replacement of dead ones with new ones. This research is at an earlier stage than the work on proteins. One approach might involve the stimulation of neural progenitor cells to become brain cells and connect to other brain cells, said Dr. Hoffman.
Dr. Branka Mitrovic leads the second Vertex team, which is examining ways to stimulate the production of growth factors, vital substances for the creation and nourishment of the brain. HD patients suffer from a shortage of such factors.
In the effort to stop the negative impact of mutant huntingtin, Vertex hopes to find a drug or drugs that will “stop disease before it progresses too far,” Dr. Negulescu said. Such remedies might also prevent asymptomatic gene-positive individuals like me from developing the disease or at least arrest it in its early stages.
Friday, December 03, 2010
Starting in July 2011, registries of HD patients, at-risk individuals, and family members from different parts of the world will be combined into a single database.
Called “Enroll-HD,” this new effort aims to make it easier for scientists to understand HD, identify potential participants in crucial clinical trials, and therefore speed the process of finding therapies and a cure.
The Enroll-HD sponsor, the CHDI Foundation, Inc., released information on the new program on November 19. Backed by an anonymous donor who has contributed tens of millions of dollars, CHDI is informally known as the “cure Huntington’s disease initiative.” CHDI collaborates with hundreds of scientists from around the world.
Enroll-HD will combine the existing REGISTRY and COHORT databases.
REGISTRY, a Europe-wide study, is run by the Euro-HD Network. Administered by the Huntington’s Study Group, COHORT stands for “Cooperative Huntington’s Observational Research Trial.” It operates in North America and Australia.
Both databases collect information about the genetic status, lifestyle, medical history, and disease progression of patients and gene-positive individuals.
Enroll-HD also will include participants from the newly founded Latin American network of HD-affected families, physicians, and researchers, the Red Latinoamericana de Huntington. Enroll-HD also will obtain information from countries such as Singapore, South Africa, and South Korea.
“It’s a natural progression to combine the successful HD observational clinical studies into one worldwide effort that will harness the power of greater numbers of research participants,” said Dr. G. Bernhard Landwehrmeyer, a professor at the University of Ulm, Germany, the chair of Euro-HD, and the principal researcher for Enroll-HD.
People already participating in REGISTRY and COHORT will continue to consult with the same physicians at regular appointment times.
To learn more about Enroll-HD, please click here.
Latin America’s contribution
One of the most striking aspects of Enroll-HD is the inclusion of Latin America, our neighbors to the south.
Venezuela in particular has played an important part in Huntington’s research. Dr. Nancy Wexler of the Hereditary Disease Foundation spent two decades researching the world’s largest extended HD family, located in the Lake Maracaibo region. Dr. Wexler developed the pedigree (traced the genetic history) of more than 18,000 individuals and collected more than 4,000 blood samples. This pioneering work helped lead to the discovery of the HD gene in 1993. (To learn more, see her sister Alice Wexler’s book Mapping Fate.)
About 580 million people live in Latin America – nearly twice the population of the United States. In rough terms, this means that some 60,000 people in the region could have Huntington’s. Studying these individuals and their families will provide a greater understanding of HD’s devastating effects and its terrible social impact.
It could also benefit HD families victimized by ignorance and poverty. Although conditions have improved for many in recent decades, most Latin Americans are still poor by our standards, and many have little or no access to quality education. In his visits to Colombia, HD activist Phil Hardt observed HD patients living in deplorable conditions – some even in old jail cells.
The Red Latinoamericana de Huntington can help raise awareness about HD throughout the region and perhaps stimulate government support for care programs and research. It also will tie the HD families and researchers from Latin America’s countries more tightly together – and also into the global network of researchers and care and advocacy programs.
More and faster research
Above all, by including Latin America’s HD families on the rolls of potential participants in clinical trials, Enroll-HD will vastly expand the possibilities of testing more drug candidates and carrying out faster research.
The Huntington’s research community faces an extremely difficult problem. As an orphan disease, there may not be enough subjects for trials as potential drugs become ready for testing. This problem is compounded by the fact that researchers have now identified more than 700 potential drug targets. Most trials minimally require dozens of participants, and others utilize hundreds and sometimes thousands of subjects.
In Europe, HD-affected and gene-positive individuals volunteer in sufficient numbers. Ironically, Americans do not. Despite this country’s power and overall wealth, denial, fear, and ignorance still dominate many families affected by HD. This lack of American participation makes Enroll-HD even more important.
Some might be concerned that Enroll-HD could become an attempt by scientists from rich countries to use people from poor nations as guinea pigs – that is, subjects tested unethically.
Fear of this kind of unequal relationship definitely exists in Latin America. I have frequently heard such concerns during my own historical research and travel in the region over the past quarter century.
But it’s unlikely that Enroll-HD will proceed with any kind of negative or arrogant attitude. All Enroll-HD participants will be protected by the strict protocols that govern research on human subjects.
The official Enroll-HD press release reassured current and future participants that “your samples will continue to be safely stored in the same biorepositories where they are now kept and all information about you will be securely stored in accordance with applicable local laws and regulations regarding the protection of your privacy.”
In addition, CHDI, European researchers, and Latin American representatives held on-the-ground preparatory meetings in Rio de Janeiro, Brazil, in February and Buenos Aires, Argentina, in June. The Rio meeting included representatives from Brazil, Argentina, Chile, Cuba, and Venezuela. Colombian and Peruvian representatives likely will participate in the future.
Reactions to the project
“I went to Rio because I wanted to extend a message of Hope to those in Latin America,” Dr. Ignacio Muñoz-Sanjuan, an HD researcher and the CHDI representative at the Rio meeting, wrote in his HD science blog. “This is not an American or European enterprise. It's a global fight to find a cure, which should be made available to all, rich or poor, in N[ew] Y[ork] or Maracaibo. But I also went there because we need more people to work with us. I need every affected person to participate: by donating blood, by speaking out, by enrolling in observational studies, in clinical studies. We simply cannot do it without the patients and the people at risk.”
Taíse Cadore, the vice-president of the Associação Brasileira de Huntington (Brazilian Huntington’s Association), wrote in a report that her organization “left the meeting with a great sense of optimism. We recognize the importance of our role in the development of this project and hope to be counting on the participation of our families.”
“The Red Latinoamericana de Huntington is very excited to become a part of the global Enroll-HD initiative and collaborate in this way with the international HD research community to better understand and treat Huntington’s disease,” Rodrigo Osorio, a native of Chile and the president of the Latin American organization, said of the official launching of Enroll-HD.
Bernhard Landwehrmeyer (right) converses with Rodrigo Osorio at the CHDI research symposium in Palm Springs, CA, in February (photo by Gene Veritas).
Inspiring global involvement
As a Latin America scholar and an HD-positive person who lost a mother to Huntington’s disease in 2006, I felt especially heartened with Enroll-HD’s recognition of the global character of disease and the need to include people of all continents in the search for treatments and in the resultant benefits.
I was especially happy to see my friends at the Brazilian Huntington’s Association receive the attention they deserve as potential contributors to the fight against HD. Without wealthy benefactors or government support, they have fought long and hard to build their organization solely on the grit and donations of HD-affected families.
Their efforts should inspire HD families in America to come out of the woodwork and redouble our efforts to strengthen our own community, educate the public about HD, and prepare for participation in clinical trials. (I will write more on the Brazilian association in my next entry.)
Ultimately, Enroll-HD can help build global awareness about the need to cure Huntington’s and other neurological disorders. We all share a common condition and, as we now understand, only together will we defeat HD and these other maladies.
Friday, November 05, 2010
One big lesson that at-risk and asymptomatic HD-positive people need to learn is that we all need and deserve to take a break from time to time. If not, worrying about the disease can completely consume our energies and leave us frustrated with the fact that we have given our lives over to HD.
Lately I’ve had this feeling myself. I have become overwhelmed with worry about HD and the movement to stop it.
So I decided it was time for my own break.
Preserving the candle
On October 15, I met up with Dr. Martha Nance at a reception for the Huntington Study Group (HSG) scientists participating in a research conference in San Diego. Dr. Nance is a specialist in HD and other brain disorders and regularly reads my blog. We attended Yale together in the late 1970s.
Dr. Nance pulled me aside and offered some friendly advice. “I’m not your physician,” she said with a shy and caring smile. “But your recent blogs have concerned me. Don’t feel that you have to do the blog every week. It’s okay to do less, especially because you’ve done so much. Don’t burn the candle at both ends.”
She had caught me in the midst of yet another streak of HD-related activities: working dinners, meetings, and visits to local drug-discovery companies focusing on treatments for HD. The next morning, a Saturday, I awoke early to return to the conference site to listen to HSG scientists present some of the latest research news. I didn’t get home until late afternoon.
I indeed had done a lot with the HD movement, but the fear of getting symptoms and my commitment to the movement left me feeling as if I had the world on my shoulders. Dr. Nance’s words helped remove a huge part of that burden.
Wisdom about HD and life
They also led me to ponder my next steps in the HD movement and my strategy to stave off symptoms.
I remembered how one at-risk board member of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego) resigned about the time I became involved with the chapter in the late 1990s. She had given many years to the fight, she said. Now it was time to enjoy her remaining time without symptoms.
We had that conversation before I tested positive in 1999. I remember feeling sad about her departure. We needed people like her in the fight! I couldn’t understand how she could apparently abandon a movement that might save her life.
Whenever one little voice tells me to quit, another quickly pipes up and urges me to keep going.
But now I am beginning to understand the wisdom of that former board member. She needed and deserved a break!
Nights at the computer
These feelings reached a crescendo in the days before HDSA-San Diego’s tenth annual Celebration of Hope Gala, a fundraiser supporting the local HDSA Center of Excellence for Family Services and Research and other HD programs.
I’ve helped with every one of these events, from placing copies of the chapter newsletter I edited onto each chair in the dining room to photographing and writing about the event for the newsletter and our website. One year I even had the winning bid on a great auction item: six tickets to the Macy’s Thanksgiving Day Parade in New York City.
I shared my many cross-cutting feelings about my years in the chapter with my wife, the most intimate witness to my attempts to cope with living positive for HD.
She agreed with the sentiments of Dr. Nance and that former board member.
“How many nights and weekends have you sat at the computer working on HD stuff?” she asked rhetorically. “Those were hours that you could have spent with me and our daughter. You could be exercising instead of sitting in front of the computer. That’s more important for your health.”
I didn’t regret my work, but it suddenly hit me how long I’ve been in this fight. Our daughter – the “miracle baby” who tested negative in the womb for HD – is ten. As she approaches her teens, she will need a strong and healthy father.
If I take good care of myself, I’ll have a better chance of being that father.
My wife was sitting in the bathroom, where she was drying off our dog after a bath with anti-flea shampoo. I sat down next to her to help.
“How rarely I sit down with my family in the evening to relax because of this ‘third job’ with HD!” I wrote later in my blog notes.
The blessed nap
For this year’s gala I came up with the idea to include the international spokesman for the HD cause, Charles Sabine, the Emmy Award-winning former correspondent for NBC television. Charles is HD-positive. I helped organize his part in the October 22 program and also his stimulating visit to our local support group on October 25.
While eating dinner a few nights before the gala, Charles and I exchanged strategies for avoiding symptoms. We’re both 50, so I felt an especially tight bond with him. We talked about supplements, exercise, diet, alcohol consumption, the effects of jet lag on the brain (Charles is English and passed through seven times zones to reach California), and other factors.
Charles tested positive for HD in 2005, and so far he doesn’t show any of the classic symptoms of HD. Over the past several years he has traveled widely to help raise the profile of HD, giving interviews, meeting with HD patients and their families, and speaking at research conferences and other events.
We heartily agreed that ample sleep is probably one of the best strategies for reducing stress and resting the brain. We both try to get a full night’s rest. And we try to nap daily. (By coincidence, I heard a radio report this morning stating that people who get nine hours of sleep per day have better brain performance than those who sleep fewer hours.)
“The blessed nap,” I wrote in my blog notes. “Two 50-year-old at-risk men discussing their naps. Would sound hilarious if it weren’t so dead serious.”
A big night
Speaking to the audience about the distressing experience of living HD-positive, Charles helped set the tone for the evening. One of Charles’ biggest worries is that he won’t be able to share life with his two-year-old daughter Breezy, another “miracle baby” who is negative for HD.
We also received news of great hope: the day before the gala, the California state stem-cell research agency awarded a grant of $3.8 million to Dr. Leslie Thompson of the University of California, Irvine, to investigate potential stem-cell treatments for HD. Along with HD advocates from around the state, HDSA-San Diego spearheaded the effort to make curing HD a priority of the stem-cell agency.
Later in the program I visited the table purchased by Vertex Pharmaceuticals, whose San Diego office has begun seeking possible treatments for HD. Vertex’s commitment to the gala coincided with a presentation about my family’s struggle with HD that I made at the company on September 24.
I thanked Paul Negulescu, the Vertex vice president for research and the head of the San Diego facility, and Beth Hoffman, the vice president of biology, for their commitment to HD, and I greeted all of the eight scientists seated with them. They were the largest delegation of HD scientists in the history of the event.
In addition to Vertex, dozens of other sponsors supported the event, including title sponsor Qualcomm and the presenting sponsor, the Viejas Band of Kumeyaay Indians.
Dr. Leslie M. Thompson of UC Irvine received a $3.8 million grant for HD stem-cell research.
Paul Negulescu and Beth Hoffman at the Vertex San Diego site in La Jolla (photo by Gene Veritas)
Former NFL star quarterback Phil Simms (right) coaches Englishman Charles Sabine (photo by Gene Veritas)
HD is priority: Charles (left) and CBS announcer Jim Nantz helped set the tone for the evening (photo by Gene Veritas)
Jim closed the evening with a moving recollection of his own family’s coping with his father’s struggle with Alzheimer’s disease. He reminded the audience that their support of the HD movement was their most important reason for being in the room.
Resigning from the board
As I left the dining room at the end of the evening, I knew I had done my small part to help make it a success. The final tally isn’t in yet, but once again the chapter brought in tens of thousands of dollars for the HD cause and, just as important, increased awareness about the disease.
With a deep sense of accomplishment – but also with the wisdom afforded me by Dr. Nance and that former chapter board member – I decided to resign from the board.
“I’ve put in 12 and a half years working on practically every aspect of our chapter,” I wrote the board. “Lately I have been overwhelmed with HD commitments and need to scale back. As a person who is gene-positive for HD and luckily escaped symptoms so far, I must now concentrate on maintaining my health and spending more time with my family.”
I pledged to continue as a volunteer, concentrating on this blog, articles on HD-affected individuals and families, and reports “about research developments in order to help create hope.”
Feeling more 'normal'
Instead of board meetings, I will once again attend the support group, “my roots in HDSA.” As I’ve written before, HDSA needs to rediscover its initial mission of care. Also, I personally need to care for my own health and family while I can.
I also committed to promoting the chapter “through contacts with local pharmaceutical companies, public talks, assistance to scientists, and my collaboration with CHDI,” the multi-million-dollar “cure Huntington’s disease initiative.”
I’m not abandoning the movement. Far from it.
But I’m going to focus my energies more efficiently, and more towards my family.
And, like that other former board member, on living the life that I have left without symptoms. To live, if at least for just brief moments, as if HD doesn’t exist!
“It’s nice to feel ‘normal’ once in a while!” I wrote in my blog notes a couple days after resigning. “I haven’t felt ‘normal’ for a long time – fears and militancy constantly put me on edge. Need to get off this edge from time to time.”
Progress and optimism
It’s also important for me to take stock of the progress our movement has made – evident in Dr. Thompson’s grant and the many potential treatments being identified by researchers. When my mother was first diagnosed with HD in 1995 (she died in 2006 at age 68), there were no targets!
Today there are more than 700 potential targets! Vertex and other companies and research projects may soon have drugs that reach those targets. (I’ll be blogging soon on Vertex and other research developments.)
That sense of progress gives me hope and confidence that a treatment, and perhaps even a cure, will be found in my lifetime.
“We’re not alone,” I wrote in my blog notes. “The scientific community is out there fighting.”
Of course, nobody can guarantee a treatment or cure. But at least now I can feel optimistic.
Yes, we in the HD community deserve a break, even if only occasionally. And we also need and deserve to fully experience attitudes like optimism. As short as our time may be, we all need to live – and enjoy – the life we have left.
Thursday, October 21, 2010
We may be one step closer to such a campaign, thanks to the drive and imagination of Maria Shriver, one of our country’s most articulate and outspoken leaders.
Speaking about Alzheimer’s on ABC-TV’s “This Week” news program this past Sunday, October 17, Shriver coined a phrase – “an expedition to the brain” – that could help spark a national campaign against neurological diseases.
“This president (Obama) could say, I want to launch, just like Kennedy launched an expedition to the moon, he could launch an expedition to the brain,” said Shriver. “There are so many secrets in the brain that can uncover the cures for Alzheimer’s, Huntington’s, Parkinson’s, intellectual disabilities, how we learn, how we love, how we remember. All of this is in the brain. Why not have something like that in this country to galvanize people around?”
As someone who is gene-positive for Huntington’s disease, I was overjoyed to hear Shriver bring attention to the disease that took my mother’s life in 2006 and could destroy my own brain, leaving me unable to walk, talk, think, and swallow.
(Click here to watch a video of the program and read related articles.)
An Alzheimer’s “tsunami”
Shriver, the First Lady of California and the niece of President John F. Kennedy, became an Alzheimer’s disease activist after watching the condition afflict her father Sargent Shriver, the founder of the Peace Corps during the Kennedy administration.
Mr. Shriver was diagnosed in 2003. He can still pray the rosary, Maria recalled in another recent interview, but he no longer remembers who she is.
The program included an interview with former First Lady Laura Bush recalling how her own Alzheimer’s-stricken father had forgotten the identity of her husband, George W. Bush, when Bush was governor of Texas. Her father ultimately succumbed to the disease.
Shriver’s appearance followed the release of The Shriver Report: A Woman’s Nation Takes on Alzheimer’s, which describes the enormous financial and personal burden the disease has created for millions of families and for the country as a whole.
Families hit by the disease spend an average of $56,000 on care. An Alzheimer’s “tsunami” is about to hit America, with a projected cost of $20 trillion over the next 40 years as tens of millions of Baby Boomers move into old age.
HD also exacts a huge social and financial cost. An estimated 30,000 Americans have HD, and some 150,000-250,000 are at risk.
Time to stand up
“I think this president and this Congress can stand up and say, ‘This is a national epidemic,’” Shriver said in a separate ABC interview. “We can get a national strategy. If we launch a national endeavor to underscore and find out what's going on in the brain, I think we can get the money.”
Shriver added that both the media and businesses need to pay more attention to the Alzheimer’s epidemic. She proposes changes in national family leave legislation so that more people can take off time for elder care.
Shriver’s prominence and passion for eliminating brain diseases – together with the growing awareness about these conditions and their enormous negative impact – might finally bring them onto the national political radar screen.
The “cure industry” and the brain
I share Shriver’s passion and determination that our country embark on an expedition to the brain.
Early last year, as our country was plunging into its worst economic crisis since the Great Depression, I wrote a blog entry titled “Our economic comeback and the cure industry.”
“America’s call to action today should focus on the elimination of disease,” I wrote. “America proclaimed a war on poverty and another one against drugs. What we need now is a mission to find treatments and cures for all diseases.”
Instead of borrowing our way out of economic crisis, I proposed that we “create our way out” by stimulating the growth of the cure industry. America can and should lead the world in producing cures, and our biotech industry can reap profits and create the kind of high-paying jobs necessary for maintaining our standard of living and economic leadership.
The expedition to the brain and the new cure industry would go hand in hand.
Purpose and urgency
Clearly our country has already begun to move in this direction. In recent months TV journalist Charlie Rose has broadcast The Brain Series, which explains the huge strides being made in brain research.
But we need a greater sense of purpose and urgency to meet the challenges of HD, Alzheimer’s, and other neurological disorders.
Lamentably, I noted in last year’s posting, none of our national leaders has spoken out about this great potential.
“Great commentary!” wrote one of my blog commentators. “How do ‘we’ get our ideas to the legislators for consideration? It HAS to be done.”
We need leadership. Once again the current electoral campaign is illustrating a dearth of this capacity.
A case in point is the race to succeed Shriver’s husband Arnold Schwarzenegger as the governor of California.
Once again, the candidates are employing attack ads – not new ideas. Jerry Brown appears to be on an end-of-career adventure, and, spending $140 million of her own cash on her campaign, Meg Whitman seems to be thinking more about a future run at the presidency than about solving California’s current problems.
None of the candidates has put forth a convincing proposal for solving California’s debt and jobs crises.
In this climate of uncertainty and indecision, it’s no wonder that an independent movement like the Tea Party is gaining steam.
Shriver as candidate?
Maybe it’s time for Maria Shriver to run for office. Because of her intelligence, passion, and vision, she would make a strong and provocative candidate.
At Yale I studied in a seminar with her brother Tim. He projected an air of both confidence and concern – both still very much evident in his leadership of the Special Olympics, where he became CEO in 1996.
“I’ve tried to shift the conversation here from what Special Olympics does to what it means,” Tim wrote last year. “It’s often seen as a service organization, but I believe that it’s a civil rights movement. Volunteers might think that they’re only coaching or serving water at a track and field event, for example, but they are doing far more. My mission has been to remind them that they are serving the search for human dignity and acceptance.” (Click here for the full article.)
We need more leaders with the Shrivers’ common sense and compassion.
A call to action
The care for people debilitated by disease and the search for cures should also be a civil rights movement that awakens Americans to our biotechnological and moral potential.
The expedition to the brain is one that we should all embark upon. These issues affect Republicans, Democrats, and independents alike. And the cure industry can and should involve all sectors of society: government, business, labor, and academia.
Like the expedition to the moon, the exploration of the brain could produce numerous spinoffs that would benefit people in as yet unimaginable ways. When future generations look back, they will admire the foresight and courage of those like Maria Shriver who inspired us to take the journey.
Let’s everybody in the HD, Alzheimer’s, Parkinson’s, and other neurological disease communities rally around Shriver’s call to action.
It’s time to launch the expedition to the brain!
Monday, October 11, 2010
Lately, as I take on ever more tasks in the movement, I should feel great satisfaction. And I do.
But, ironically, I’ve also felt that I’m losing control over my life. I feel overwhelmed by what I call my three jobs: family, work, and the HD cause. And my decision to gradually go public about my status will forever change how people see me.
On September 24 I made my first speech in the United States about my family’s struggle against HD.
After blogging on that presentation, I delved into an overdue writing project for my work. A lot is riding on it, because, if successful, it could lift my profile in the world of writing and help me raise awareness about the need to fight HD and other genetic diseases.
I had been working on this project for six months, and when I turned it in last Thursday, October 7, I felt an enormous relief.
But I immediately had to prepare for something even more important: the next day, October 8, I would pay my annual visit to Isis Pharmaceuticals, Inc., for an update on the company’s historic attempt to stop HD.
My professional writing project is about former South American guerrillas accused of terrorism. Suddenly, I had to shift to thinking about oligonucleotides, or oligos, which are a bit like genetic guerrillas. If all goes as planned, these guerrillas will bind to messenger RNA in the brain cells of HD patients and block the process that kills the cells.
Known as antisense technology, the Isis approach is a rare attempt to stop HD at its genetic roots. So it might lead to a “cure,” although Dr. Frank Bennett of Isis cautions against the use of that word. The more likely outcome is a treatment that becomes one in an array of medicines.
I spent several hours reviewing my past articles on Isis, posters on oligos presented at scientific meetings, and the notes from my conversation with Dr. Doug Macdonald, the director of pharmacology at CHDI Management, Inc., informally known as the “Cure Huntington’s Disease Initiative,” a collaborator with Isis in the oligo project.
My life in their hands
At Isis I was overwhelmed to see Dr. Bennett, the senior vice president for research, and Dr. Gene Hung, the scientist in charge of the HD research project. In my imagination these two men, along with others on the Isis team, hold my life – and the lives of tens of thousands of HD patients and at-risk individuals – in their hands.
Before we even began the interview, I warmly thanked Drs. Bennett and Hung for their dedication to assisting the HD community.
I desperately wanted to hear from them that Isis had found the treatment and was ready to begin testing in humans. In a nutshell, the project is taking longer than anticipated, but the progress is remarkable. (Later I’ll blog in greater detail on what I learned.)
Driving home from Isis, I felt a strange mix of euphoria and angst. I had just received encouraging news, and I had successfully carried out an interview on a difficult and complex subject.
But there are no guarantees the project will ultimately arrive at an effective treatment.
And, I wondered, what if it comes too late? My mother died of HD in 2006 at the age of 68, and, at 50, I am already past the age at which her symptoms began.
I wanted to both celebrate and hunker down.
Several months ago I told a good friend and professional colleague about my situation. This was the first time I revealed HD to anybody in my field. He showed great compassion and even made a donation to the Huntington’s Disease Society of America.
Last night I got a surprise call from a mutual friend and colleague who had heard that I was facing “health issues.” He was concerned that I might have something like multiple sclerosis or prostate cancer.
The inevitable grapevine has gone into action, I thought to myself. I have known this person for well over a decade and have trusted him on many professional questions. I decided to tell him about Huntington’s disease – and about how it was important for me to keep it hidden for so many years.
HIV-positive and HD-positive
The first friend had no inkling whatsoever about HD, but the second knew a family affected by HD and had learned in great detail about its medical and social impact.
He immediately got the picture.
This man is openly gay, and so I knew that he could identify with someone who was gene-positive for a deadly disease. In fact, I had previously imagined coming out to him because of his background as a gay rights activist.
We spent a while discussing the similarities between the situations of HIV-positive and HD-positive people.
Both groups have suffered a horrible stigma, leading to problems of discrimination in the workplace and other areas of life. Success in our shared professional field depends a lot on perceptions, and the slightest hint of an inadequacy of any kind can sour a person’s plans to advance.
And the victims of both HIV and HD face a terribly agonizing waiting game of wondering when and how symptoms will develop.
The end of control?
My friend expressed unconditional support, including future advice on how to come out.
I am sure I’ll be calling on him in the coming months. As I’ve written before, our society has developed a ritual for coming out about HIV and other well-known maladies, but still lacks one for genetic diseases, especially orphan conditions such as Huntington’s.
Although my two friends have promised to protect my identity, I know that as I speak out more about HD, the grapevine effect will grow. There is no such thing as a secret once it’s been shared. I will need to prepare myself for more phone calls, e-mails, and personal questions.
The lack of control over people’s perceptions of my HD status is something that I’ll have to live with the rest of my life.
I become especially distressed when I remember how my own mother lost control of her mind and body as HD ravaged her brain. HD people lose control over their movements and basic abilities such as walking, talking, and thinking.
HD people pass control over their lives to caregivers and, as death nears, to nursing home workers. I vividly remember how my father and later healthcare personnel spoon-fed my mother. It was as if she had returned to childhood.
In the end, nobody controls his or her biological destiny: death. People with devastating diseases have an acute awareness of this fact of life.
New and better bonds
As I approach my own destiny with HD, I will need to build ever stronger ties to people.
Going public will forever eliminate control over my genetic information, but it will also connect me to a growing number of people within the HD community and beyond.
I have long feared going public, but in doing so I can find new allies like the friend who called me yesterday to offer support.
HD could leave me completely dependent on my wife and daughter, so I also need to continue strengthening my bonds with them. If and when they need to care for me, I want that transition to go as smoothly as possible. I don’t want to be a burden, but know I could become one. I want to love and care for them while I can.
Saturday, September 25, 2010
Yesterday I gave a presentation to about 50 people at the Vertex Pharmaceuticals facility in the biotech corridor of San Diego. I titled it “Gene-Positive for Hell: My Family’s Fight Against Huntington’s Disease.”
This was the first time I spoke publicly about HD in the United States and identified myself as gene-positive for HD. I had come out to an audience in Brazil in June. (In this blog I will continue to use my pseudonym, Gene Veritas.)
It’s a day I won’t forget, as long as I can stay healthy and not succumb to the symptoms of HD that destroy the ability to remember and communicate.
An emotional preparation
Vertex is a drug-discovery company now turning its focus to Huntington’s. I had met Beth Hoffman, Ph.D., the company’s Vice President of Biology, at the CHDI conference in Palm Springs last February. The company’s philosophy of close collaboration with patients and disease-fighting organizations led to an invitation to speak about my personal experiences.
In the days before my talk, I struggled to find the right formula for the presentation. I knew I'd have to be precise and compelling, because the audience would mainly include highly-educated scientists.
Preparing for it drained me emotionally. I reviewed some short videos I had shot of my HD-stricken mother and my father, the “HD warrior” who cared for her for 15 years until she entered a nursing home in 2005. She died in February of 2006, and my father died on September 25, 2010 – a year ago today.
My ten-year-old daughter, who recently learned of my gene-positive status, watched the videos on my computer screen and saw some of the PowerPoint slides I was setting up for the presentation. I explained to her that I would be making a speech about HD.
On Thursday, September 23, I awoke at 2:30 a.m. with a burst of energy and anxiety. I spent the next two-and-a-half hours finishing the PowerPoint. At 5 I turned off the computer and started my normal morning routine of stretching, breakfast, a shower, and the drive to work.
A big surprise
On Friday afternoon I was only at Vertex for a few minutes when suddenly I recognized a familiar face. It was a neighbor whose daughter attends the same school as our daughter. We shared school car-pooling duties one year, and the two girls played one season on the same soccer team.
“Today you’re going to learn something new about me, something pretty big in my life,” I said as I shook his hand.
I was very surprised to see him. My mind immediately went to work on processing this unexpected bit of data. I had prepared myself to speak to the Vertex audience, but I had not imagined speaking to neighbors.
“You’re really going to go public today and take this all to a new level,” I told myself. “Whatever happens, happens.”
My presentation compressed 15 years of my family’s confrontation with HD into 45 minutes. I defined Huntington’s as “one of the cruelest of diseases.” Its social impact is immense. HD burdens families with round-the-clock caregiving, financial strains, discrimination, insurance issues, the difficult decision about whether to have children, and the curtailment of many of life’s dreams.
Then I described some of my mom’s symptoms and their consequences. Her wobbly walk, for instance, constantly put her in danger of falling. Once she broke a wrist, and another time she sustained a large gash to her head that required staples.
Next I focused on HD’s impact on my wife and me. I began with my decision to get tested, the result of my wife’s and my desire to have a child and to insure that he or she would be free of HD.
I revealed that we had a difficult time committing to our daughter-to-be until we received the news from our geneticist that she had tested negative in the womb. This, I told the audience, was one of the happiest days of our life.
Juxtaposing a photo of our daughter playing soccer next to another in which she posed with Terry Leach, a victim of juvenile HD, I contrasted our healthy “miracle baby" with her potential fate – and our immense worry and pain – had she tested positive.
I felt as if I were riding an emotional rollercoaster, careening from one sharp curve to another. I relived many intense moments of anger, frustration, and fear. Several times I nearly cried but instead spoke even more passionately.
A big step
I have responded to the challenges of HD by channeling my energies into activism for the Huntington’s Disease Society of America (HDSA). I outlined for the audience the many facets of this work: fundraising, production of the chapter newsletter, website development, advocacy, volunteer recruitment, participation in the HD support group, reporting on research, and my blog.
I concluded the personal aspect of my presentation with some thoughts about “exiting the HD closet.” This was a “big step” for me, I told the audience. It was the culmination of a very long process.
I – and many other people in the HD community – can now breathe a little bit easier thanks to the implementation of the federal Genetic Non-Discrimination Act and the passage of President Barack Obama’s health care reforms, which prohibit exclusion of people with pre-existing conditions from insurance coverage.
Imagine, I told the audience, had these measures been in place 15 years ago when I began my fight against HD? I could have been more open about it all, and would have had far fewer worries about insurance.
Imagining a celebration
After my presentation, the Vertex employees asked questions for about 20 minutes about various aspects of my life with HD. Knowing the intellectual acuity of scientists, I had expected some pointed questions.
But I felt great empathy from the audience. As Dr. Hoffman explained to me, seeing the real impact of a disease on people is far different from a discussion about the disease as seen in a test tube.
During the question-and-answer period, Paul Negulescu, Ph.D., the Vertex VP for research and the head of the San Diego facility, asked how I deal with HD on a day-to-day basis. I gave Dr. Negulescu several examples of the mechanisms I have developed, including the deep catharsis I experience in writing this blog.
Later, alluding to his question again, I said that I want to return to Vertex after the company has found a cure for HD and get drunk with him and everybody else to celebrate!
Vertex has potential drugs in the pipeline for controlling cystic fibrosis – like HD, a genetic disease – as well as one for hepatitis C.
Vertex’s HD program seeks to find ways to correct the action of faulty proteins in brain cells. (I'll write more on Vertex’s strategy later.)
I joked to the audience that they had better hurry up, since another San Diego biotech, Isis Pharmaceuticals, Inc., is also hard at work on a major treatment.
After the Q & A, I mingled with the attendees as they partook of the spread of food and beverages the company had laid out. My neighbor came up to me. “I thought of your wife and daughter in all of this,” he said, referring to the many travails I had presented.
The Vertex approach
My visit to Vertex – along with three other members of the HDSA-San Diego board who saw my presentation – helped build an initial bond between the company and the local HD community. To find treatments and a cure for an orphan disease such as Huntington’s, Vertex and the HD community must work together.
Before and after my talk I spent several hours interviewing Dr. Negulescu, Dr. Hoffman, and other Vertex researchers in charge of HD research.
Vertex is reinforcing its commitment to HD families by co-sponsoring our chapter’s tenth annual Celebration of Hope Gala, set for October 22.
Taking in the moment
After saying good-bye and driving off in my car, I stopped a few yards down the street to get some pictures of a street sign I had seen on the way in. It said “Road to the Cure.”
(Photo by Gene Veritas)
It was 6:30 p.m., and all was now quiet at the heart of one of the world’s leading biotech corridors. I paused for a few moments to take in the day and what I had accomplished.
Then I got back in and drove off in the direction of the sunset.
Despite all I had relived that day, I felt a rekindled hope.
Saturday, September 18, 2010
But, as so many at-risk people have pointed out over the years, the threat of Huntington’s also forces them to put life in perspective and live it more intensely.
In early 2005, as I was just starting this blog, an old friend best summed up my situation by contrasting it with his relatively care-free life: “I envy you. I feel immortal. I don’t believe I’m going to die. But you know you’re going to die, and so you can live your life more fully” (click here to read more).
I especially struggled this past week with fear and anger about HD. On September 13, I published “Living in limbo,” in which I described the harrowing “waiting game” that I and so many other people who have tested positive for genetic diseases face as we are forced to imagine a bleak future. (This is akin to what one gene-positive woman calls “genetic roulette.”)
I felt overwhelmed after writing that entry and reading the responses (posted comments, e-mails, and Facebook remarks) of other gene-positive individuals and their relatives.
Feeling a sudden urge to protect my family, life’s priorities flashed through my mind.
I recorded these thoughts in my blog notes:
Our job is to pass down our culture/history/values to the next generation. I feel this acutely. Just as important now to do daughter’s soccer practice as attend an HDSA-SD board meeting. Feel in my bones and my blood: our time here is limited and the prime directive is to guarantee the survival and success of the next generation. Nationally: get rid of debt. Locally: active in community. At home: prepare daughter [for life].
I awoke the next morning at 2:30. I was very agitated and couldn’t get back to sleep. Somehow I got through the workday with the usual good game face, but I didn’t get relief from the agitation and adrenalin rushes until returning from work in the afternoon. I turned off the ringer on the phone and took a long nap. I awoke feeling disoriented.
Luckily, on September 16, I had my bi-weekly session with my psychotherapist, the person who understands my mind probably better than anybody, especially after my mother became ill with HD (and died in early 2006) and my father, the Huntington’s warrior who cared for her for 15 years and died a year ago. Besides the usual worries about HD, I’ve become more anxious because of the approaching first anniversary of his death (click here to read more).
I told my therapist about the difficult feelings generated by the “Living in limbo” entry, including the huge transition I've begun as I become more public about my situation with HD. On September 24 I will make my first-ever public presentation about HD to an American audience. (Click here for an entry on the talk I gave in Brazil last June.)
As we worked together to sort out the painful feelings, we reflected on how I’ve evolved as an activist for HDSA, the Huntington’s Disease Society of America. She also pointed out how much I’ve grown because of the need to confront HD.
A valuable insight
“You have more to lose than ever,” she said.
I interrupted her and asked for a slip of paper to write down this phrase. Right then and there I decided that it would become the topic of my next blog entry.
“You’re right!” I said about her insightful comment.
It’s impossible to know how my life would be today if it weren’t for the threat of HD.
But I believe that I’m a better person in many ways.
To begin with, I have indeed gained perspective. The preoccupations of the past now seem like mere details, and I’ve calmed my tightly-wound personality considerably.
The other day my daughter was late for an orthodontist’s appointment. I patiently and quietly waited for her to get ready.
As we got into the car, she asked, “Dad, aren’t you angry that we’re late?” She was wondering why I wasn’t upset with her.
“Will getting upset make the minutes on the clock go backwards?” I asked her. She thought a few seconds and responded, “No.”
“Being late once in a while is okay,” I continued. “Ideally, we should be early for things, so that we’re not late. There are many things we have to be on time for, like school. But it’s not the end of the world if we’re late once in a while.”
In her words, a lot of times I “freak out” about things. But it’s happening less.
It was a small but valuable lesson.
With ever greater appreciation for the gift of life, I’ve become more sensitive to my family’s needs.
A multi-dimensional life
I also feel that I’m a more tolerant person. This helps in my professional relationships and in working with the HD community.
Indeed, my HD activism has built many more layers onto my life: blogging, website development, volunteer recruitment, advocacy, fundraising, the translation of research advances into terms understandable to the HD community, and the building of mutual support within the community. I sometimes feel as I’m living in several dimensions at the same time.
I’ve definitely improved as a writer, because living at risk for HD has led me to explore the depths of human emotions about life and death. I’ve felt the impact of the worst kind of denial, but also the utmost of courage and compassion.
As I’ve written on several occasions, confronting HD has led me to a clearer understanding of my religious faith. I now see faith as going hand in hand with the movement to stop HD.
I feel inspired to help others. I’ve pledged that when and if the cure for HD comes and I finally break free of its destructive shackles, I will channel my energy into another volunteer cause.
The secrets of life
In sum, I feel more mature and more aware.
I think I’m beginning to understand some of the precious secrets of life. Possessions, power, and fame in the end are irrelevant. Love, sharing, and dedication are what count.
Clearly I am far from perfect. Nobody is. I stand only near the starting line of this process.
But in reaching this point, I now have a clearer view of the great potential of my life yet to be unlocked.
The threat of Huntington’s disease has brought me a load of worries. But it’s also given me so much more to feel good about in my life.
I indeed have more to lose than ever, and that’s why I’m ever more anxious to prevent HD from cutting me off in my prime.
Monday, September 13, 2010
I tested positive for Huntington’s disease in June 1999 at the age of 39. HD usually strikes people in their 30s, 40s, or 50s. My own mother, who died of HD at age 68 in 2006, started showing the psychiatric effects of HD around age 48.
So my symptoms could start any time.
Difficult to predict
With HD, the more severe the genetic defect, the earlier the disease starts. But doctors and scientists cannot predict the exact moment when a person will display symptoms. What makes this fatal brain disease even trickier is its variety and complexity of symptoms. Researchers are finding that the disease affects many functions, from those as subtle as the sense of smell to as basic as the ability to walk.
The disease also causes decline variably in different people. The normal course usually runs 15 to 20 years. But some people live a long time until the worst symptoms kick in, while others become helpless early on.
HD is caused by a single genetic defect, but researchers are searching for so-called modifier genes that might trigger onset. Environmental factors and lifestyle also may affect onset and the severity of the disease.
My own waiting game
So I have played the waiting game for eleven years.
Not long after I was tested, my wife and I noticed that my legs twitched at night as I would fall asleep. We panicked, because the first physical manifestation of my mother’s HD was uncontrollable trembling in her legs while in bed.
A physician with detailed knowledge of HD informed me, however, that many people have nocturnal twitching and that mine was probably not related to HD.
We were relieved, but, because the genetic defect eventually strikes all carriers, we know it’s only a matter of time before something begins to go wrong.
Subtle versus classic symptoms
Over the past decade I’ve noticed a decline in several areas such as short-term memory and reaction time behind the wheel. This could be HD – or simply the aging process. (I turned 50 last year.)
I did well at my last annual check-up with an HD specialist. I am still apparently free of classic HD symptoms.
But I’m also aware that the more subtle symptoms could be at work. And I know that the latest research demonstrates that changes in the HD-affected brain start occurring years before noticeable symptoms arise.
Recently I’ve been feeling angry about being in this state of limbo.
Don’t get me wrong. I’m very happy to be healthy. When I see other HD-affected people in my age group (40s and 50s), I feel blessed in being able to work, write, travel, and enjoy my family. I’m exercising, eating nutritious food, taking supplements, and keeping an active mind so I can try to stave off the symptoms as long as possible.
I’ll admit that sometimes I experience that little bit of death wish that we all do from time to time. During an HD check-up a couple years ago, I expressed amazement to the doctor that I had no apparent symptoms. “Be thankful,” he said.
In a weird way, I felt cheated. I had been preparing myself all these years for onset, and it didn’t happen!
It’s as if I’m preparing for a great battle, but the battle never comes.
I think what I really wanted was definition in my life about HD. I wanted to know how it would start and when. (I know that’s a narrow focus; onset will bring huge burdens to my wife and daughter.)
These visits to the HD doctor always unleash powerful feelings. I see individuals with severe symptoms. I know some of them and have seen them decline over the years.
I feel deeply relieved not to be in their situation.
And I feel sad and guilty watching them struggle with walking, talking, and the other basics of life that HD takes away.
A cruel joke?
Other times my imagination wanders into the territory of conspiracy theory. It goes something like this: the geneticist who gave me my test results made a terrible mistake and mixed up my results with somebody else’s. I am not really gene-positive! That’s why I don’t have symptoms!
A similar version gets paranoid: that geneticist wanted me to suffer and lied about the results!
“It’s a hoax!” I tell myself.
“Is this some kind of cruel joke?” I angrily ask myself. “I’m told I’m going to get a disease, and yet no symptoms have come. I keep wondering about it.”
Wanting to “resign” from HD
A few weeks ago, I daydreamed about writing a “resignation letter” from my volunteer position with the local chapter of the Huntington’s Disease Society of America (HDSA). “I’m tired,” the letter stated.
I felt especially resentful because I had just returned from a very enjoyable 32-day, 8,300-mile cross-country car trip with my family. I didn’t answer any HDSA e-mail during that time, and I put thoughts of the disease and our cause to the back of my mind.
After the vacation, however, the hard reality of HD worked its way back to the forefront. It’s time for my annual check-up, and also for the tenth annual HDSA-San Diego Celebration of Hope Gala, our biggest fundraiser of the year.
Commiserating with Michael Douglas
In late August I watched actor Michael Douglas reveal on national TV that he had stage-four throat cancer. My heart went out to him. But, as he put it with the characteristic Douglas family determination, he had an 80 percent chance of beating the cancer.
“At least there’s a treatment!” I thought. Good for him!
But then I immediately thought how there is a zero percent chance of beating HD – because there is still no treatment and even less a cure.
So, just as I think about HD practically every morning, so must I daily rededicate myself to the fight against it.
Fighting on a new level
Not coincidentally, I’m gradually and very strategically going public about my gene-positive status. In June I gave a speech in Brazil in which I came out to an audience of several hundred people.
Later this month I will make a presentation on my life with HD for a local biotech company, Vertex Pharmaceuticals, which researches the disease. It will be the first time I speak in public about HD to an American audience.
I really do wish HD were just a cruel joke or a bad dream. But as I think of my mom and all of my friends and acquaintances living with the disease or at risk, I know all too well that HD is real.
Tuesday, August 31, 2010
I’ve learned to cope in many ways. I’ve adapted emotionally – so far – to the idea of getting HD, and I’ve balanced my fear of HD with the demands, strategies, and joys of life (work, insurance, and family, for instance). A good part of the past year I spent preparing for a month-long cross-country car trip with my wife and daughter – our "miracle child," who tested negative for HD in the womb – in order to enjoy our time together before I develop symptoms. We had a great time (click here to read more).
The importance of exercise
Exercise is another way of coping. Perhaps it even delays the onset of symptoms.
One of my HD heroes is Bryan Medrano, a triathlete and the 2004 “Person of the Year” of the Huntington’s Disease Society of America (HDSA). I met Bryan several years ago when he was in San Diego for a kickoff party in honor of him and three other Californians who biked across the country in one just one week in order to raise research funds. I learned that Bryan was gene-positive. I admired the way he trained to stave off symptoms and to raise awareness about HD.
Next to Bryan I’ve been a couch potato. I get in 30 minutes of focused daily exercise. I usually take a brisk two-mile walk. For a while I took hour-long bike rides up and down the hills of our San Diego neighborhood. For about a year I also worked out once a week on the weight machines at the nearby YMCA. For a few years I also worked out on an elliptical machine in our living room. I also spend 15-30 minutes per day stretching.
I know I need to do more. Dr. LaVonne Goodman, the founder of Huntington’s Disease Drug Works, recommended that I put in an hour of aerobic exercise seven days a week. I’ll admit, though, that sometimes I’m lazy or too busy, so I rarely get beyond 45 minutes.
The Obama stimulus pool
Over the past year I’ve rediscovered swimming.
Thanks to my wife’s persistence, in 2009 we built a swimming pool in our back yard. I call it “the Obama stimulus pool,” because, thanks to President Barack Obama’s efforts early on to lower interest rates and get the economy going, we were able to refinance our home with an interest rate of just 4.375 percent and take out $75,000 for the pool and related home items such as solar heating and decking.
I like to tell friends that when the history of the recovery from our current recession is someday written, economists will identify our pool project as the turning point.
My wife mainly wanted the pool for get-togethers with friends and our daughter’s play dates. My wife reasoned that it was better to have our daughter within view than off somewhere else as she heads into the challenging teen years. While the kids play, we can read or work on our laptops or join in the fun.
Laps in the back yard
I investigated another very practical benefit: how to set up the pool for the best workout possible.
Our yard was too small for a lap pool. So I started to research alternatives such as a swim tether (holding the swimmer in place with a line) and swim jets (a stream of bubbles). I concluded that neither would give me the kind of challenging, natural workout I wanted.
Years ago I had also heard of a company called Endless Pools. I received some of their promotional DVDs in the mail, but the estimated price of around $20,000 seemed too much for a small pool that could be used only for swimming laps in place.
More recently, however, the company developed a product called Fastlane, a motor that can be installed in a new or existing pool.
A 52-speed motor
From my research I learned that the Fastlane did the best job of recreating the actual conditions of swimming. The Fastlane created a current in the pool, not bothersome, dispersing bubbles. The company arranged for me to try out one of its devices at another customer’s home. This gentleman, a Masters swimmer, and his wife graciously allowed my daughter and me to swim in their pool with the Fastlane.
The two horsepower motor operates at 52 speeds (!), allowing for a wide range of swimming abilities.
I was hooked! So the additional $5,000 for the device and installation by our pool contractor has been worth it. (Click on the 'play' button below to watch a video of me with the Fastlane.)
My relationship with water
The physical benefits of swimming are well-known. It’s a great aerobic exercise that involves the whole body and doesn't stress joints as with running or require an uncomfortable position (for me, at least) as with bicycle riding.
Life emerged from water, and to return to water helps me reconnect with nature. The water envelops me as if to protect, and at the same time I must work against it to keep up with the current.
I have an especially complex relationship with swimming pools. When I was about four, my mother took me and my little sister to the pool in our apartment complex. I was floating around in a circular rescue tube. Suddenly I flipped over and was upside down in the water. I didn’t know how to swim, and I started thrashing about in the struggle to right myself.
What’s worse, the lifeguard wasn’t paying attention.
Somehow, I came back up on my own.
I had swallowed some water and was coughing and crying as I came out of the pool. I kneeled down and hid between my mother’s legs and under the towel she had draped over her knees.
I didn’t develop a phobia for water or pools, but I do frequently remember the sensation of helplessness and the subsequent safety I felt under my mom’s towel.
Swimming and HD
Recently I’ve thought even more about this incident because of how helpless my own mother became when struck with Huntington’s disease.
I now return to the water to seek strength against her attacker and mine. Getting in shape, working the heart and muscles, bathing the brain with oxygen and its protective elements – these are my goals when I get into the water.
The Fastlane is my friend.
As its motor hums and relentlessly pushes water at me, I work out my frustrations. Swimming helps me to put the relatively minor but often irksome problems of daily life into perspective.
And rather than fight with people I know who live in denial of HD or fail to understand the need to draw our community closer, I think of accelerating my pace so that my fingertips can reach the edge of the Fastlane. Anger becomes energy, and sadness becomes exhaustion.
When the anguish is worst, swimming makes me feel alive and vital, knowing that for the moment I am still okay and without symptoms.
On those special days the thrill of the swim and the flow of oxygen bring me to a state of exhilaration and optimism about my work as an HDSA activist and the collective search for treatments and a cure.
The Fastlane and I don’t ever talk, but together we’re building hope.