Saturday, January 10, 2015
Ten years ago today, I launched this blog to explore the depths of living at risk for Huntington’s disease and to unburden myself of the fear of its inevitable symptoms.
Frankly, I did not expect to still be writing at 55.
At that age, my mother had developed chorea (the involuntary movements associated with HD) and was experiencing serious emotional and cognitive symptoms that would soon prevent her from speaking and caring for herself. This year marks the sad 20th anniversary of her official diagnosis. She died of HD in February 2006 at the age of 68.
I tested positive for the HD genetic mutation in 1999.
I strongly believe that my work on this blog – research, reflection, writing, advocacy, and networking – has helped me delay my own HD onset.
I cannot scientifically prove this, but evidence strongly suggests that mental stimuli and other forms of enrichment can positively affect the course of this disease and other neurodegenerative conditions.
Researchers have told me privately that they believe my mental activity has helped keep me stable. “Keep doing what you’re doing,” they say.
Gene Veritas with his tenth anniversary blog posting (photo by Gene Veritas)
Launching the blog
Life can be an emotional roller coaster. HD families ride the tallest and most twisted one, with HD gene carriers like me facing a terrifying descent into symptoms.
Starting in 2001, I wrote and edited Conquest, the tri-annual newsletter of the San Diego Chapter of the Huntington’s Disease Society of America. However, while revealing the stories of many HD-affected individuals and their families in Conquest, I never wrote about my own family’s plight.
I started At Risk at the urging of Norman Oder, a fellow Yale University graduate and colleague at the Yale Daily News.
As a young journalist in the 1980s, Norman by chance wrote an article about a New York area HD family. After we reconnected years later, he edited some of my Conquest articles. Coincidentally one told the story of that same family, part of which had moved to California.
In the early 2000s Norman and I brainstormed about how to increase media coverage of HD, including my own story, as a way to strengthen the cause and attract potential donors.
With that goal in mind, I initiated the blog to address the many complex issues faced by presymptomatic mutation carriers like me as well as untested at-risk individuals.
I didn’t realize at the time how much it would help me sort out my thoughts, engage with others in the HD community, and nudge HD activism. In February 2011, I examined this blog as an advocacy tool during my keynote of the Sixth Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc. In June 2011 I was named HDSA’s Person of the Year, an honor I never could have achieved without this forum. “I know, too, that this award is not just for me,” I wrote, “but for everybody affected by HD: the at-risk, the gene-positive, the symptomatic, the families, and the unsung heroes of America, the caregivers.”
From the start, Norman has applied his editing skills to virtually every article, almost always sending back revisions within a few hours. He has also suggested a number of topics and pushed me toward rigor when it’s tempting to just hope.
Norman is my “HD alter ego,” and a great friend.
(Later in 2005, Norman began his own long-running blog, a daily account of Brooklyn’s most controversial real-estate project, now called Atlantic Yards/Pacific Park Report.)
A stalwart supporter of my activism, my wife Regina has reflected with me on the content of numerous articles. Our daughter Bianca has witnessed me writing and posting articles. Now a teenager, she has a record she can consult of her grandmother’s demise and her father’s writing and coping strategies.
Explicitly and implicitly, Regina and Bianca permeate the pages of this blog. More than anything else, their presence and love motivate me to fight HD and to improve as a husband, father, and human being.
Gene Veritas (left, aka Kenneth Serbin), Norman Oder, and Regina Serbin (photo by Bianca Serbin)
In that first year (2005), I wrote 17 articles. However, over the next three years I could only write 18 articles. I was distraught over the death of my mother from HD. I even acted out HD symptoms.
During those first four years, I focused primarily on my family’s struggles to care for my mother and how living with the gene affected my feelings and life.
With the help of my psychotherapist and a more effective set of medications for depression and anxiety, I started to turn the corner in late 2007.
In late 2007 I also wrote my first blog article about the potential of stem cell research for finding HD treatments. Along with other southern California advocates, I set up the very first presentations about Huntington’s disease before the state’s stem cell agency.
From that point on, the hope for treatments buoyed me emotionally and became a frequent theme of At Risk for Huntington’s Disease.
Expanding the research updates that I wrote for Conquest, I started doing on-the-scene reporting and in-depth interviews with researchers. In April 2008, I visited Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA, to produce an article on the company’s ambitious efforts to stop HD very close to its genetic roots.
This year Isis will conduct the long-awaited Phase I clinical trial to test its potential gene-silencing drug.
The blog expanded to cover many of the difficult issues impinging on the HD community, including abortion; advocacy for a congressional bill to update the government’s disability criteria for HD; the difficult discussions young at-risk people face during dating; and the challenges of finding adequate nursing home care for HD patients.
“I really absolutely admire your bravery in exposing this disease in a realistic and unapologetic way,” wrote Stella, another HD blogger, in a comment on one of my articles. Such comments help keep me going.
Writing the blog helped me think through the process of going public about my HD status after nearly 15 years of advocating anonymously and seven years of blogging under the pseudonym “Gene Veritas,” which I maintain as a symbol of our community’s fight for the cure.
Now, as I meld my HD advocacy with the career of Kenneth P. Serbin the professional historian, I have come to view the blog as a primary historical document of the “new and harrowing human experience of living in the gray zone between a genetic test result and onset of a disease.”
An emotional vent
Above all, the blog is an emotional vent.
With you, my readers, I can share my feelings about facing a terrible, currently untreatable disease, build forces to defeat the profound stigma surrounding HD, and bolster advocacy to improve care and seek the cure.
Through At Risk for Huntington’s Disease – and the HD community I have reached on Facebook – I have gained many new brothers and sisters determined to survive HD and passionate about the noble aim of bettering humanity by solving a major medical and scientific puzzle.
Often, producing articles for the blog envelops me for hours and sometimes days as I research, travel, photograph, shoot video, write, revise, and post, and then engage with readers via e-mail and social media.
Sometimes I go to bed too late – not good for someone at risk for a disease that disturbs the body’s natural rhythms.
As I prepare to post an article, I experience a torrent of emotion, followed by a deep sense of relief.
The memories of twenty years of dealing with HD come flooding back, but in the end I have hope.
Awaiting effective treatments
This article is posting number 197 in At Risk for Huntington’s Disease.
I am grateful that very soon I will be able to post number 200.
Tonight I will raise a glass to the blog.
I know it’s still a long shot because of the inevitability of HD symptoms, but I want to remain healthy long enough to write the article celebrating the discovery of a treatment so effective that I can stop worrying about HD and retire the blog.
Tuesday, January 06, 2015
Police killing of man with Huntington’s disease spotlights need for affected families to emphasize proactive, dignified approach
The shooting death of a Philadelphia-area man apparently suffering from Huntington’s disease, which perhaps led him to try to run over police officers with his car, has once again raised the perilously common issue of how police misunderstand HD.
Beyond prompting anger and the need for better police preparation, the death of Joseph A. Pacini can also stir the HD community to combat the stigma of the disease, redouble efforts towards treatments, and emphasize the dignity of affected individuals.
According to reports in the Philadelphia Inquirer (click here and here), Pacini, 52, died Dec. 30, 2014, in a town near Philadelphia after officers from three departments fired at least 22 shots, wounding him in the head, neck, shoulders, and chest.
Pacini’s one-time girlfriend and a close friend told reporters that he suffered from HD. Family members said that Pacini’s father, who had HD, committed suicide when Pacini was 21.
For the second time in less than four months, the incident raised the issue of police response to HD-afflicted individuals. In September, police in the small town of Westover, WV, held down Jeffrey Bane for nearly ten minutes after he clashed with officers; he struggled to breathe and pleaded for help. A bystander captured the scene on video (click here to read more).
Investigators in the Pacini case are conducting tests to confirm his HD status and whether he was using drugs and/or alcohol. The local district attorney is also investigating the justifiability of the shooting.
(Sadly, most media reports missed the HD angle. One, in the New York Daily News, reinforced the ignorance and stigma surrounding neurologically and mentally impaired individuals by poking fun at Pacini and referring to him in tabloid parlance as a “sicko.”)
A volatile situation
According to the Inquirer, Pacini led a troubled life, failing to finish his college studies, posting conspiratorial and threatening YouTube videos, and fighting with his mother, the police, and others.
“[HD] is very often confused with schizophrenia, especially with those who do have the mental disorder predominant in the beginning," Louise Vetter, CEO of the Huntington's Disease Society of America (HDSA), told the Inquirer. She said that HD can involve "paranoia, anxiety, really, really strong fixation on things.”
“HD does not fit well into the norms of society,” advocate Jonathan Monkmeyer, a Philadelphia-area resident whose wife Sheryl died of HD in 2009 at 46, said in a Facebook conversation with me. Jonathan did not know Pacini, but as Sheryl’s full-time caregiver for many years he understood the awkward and difficult social situations HD people face.
“This describes another tragic end to a difficult life for a person thought to have HD,” Martha Nance, M.D., the director of the HDSA Center of Excellence at Hennepin County Medical Center in Minneapolis, MN, and the author of the preface to HDSA’s Law Enforcement Training Guide, wrote in an e-mail after reading press coverage of the incident.
“It is easy to focus on the police departments’ actions that directly led to Mr. Pacini’s death, and shout for a different approach, criticize the police for ‘not knowing he had HD,’” she added. “But I’m not sure that the presence or absence of HD would necessitate a difference in the officers’ approach to a volatile situation.”
In the Pacini case, mental illness independent of HD seemed to play a role, Dr. Nance observed. She pointed to the “general issue of access to mental health care” as a key factor in such situations.
“In medicine, we believe that the police need to be involved if there are homicidal threats, and we, too, call the police if we feel that we are unsafe or in danger as we see a patient in the clinic or the hospital,” Dr. Nance emphasized.
‘Be more public about HD’
“The other issue, and more relevant to the HD community, is WHAT CAN WE DO to keep our Joseph Pacinis from getting to these kinds of crisis points,” Dr. Nance continued. “And I think the first thing is to be more public about our disease. HD families, more than anyone else, treat their disease as a terrible secret, a stigma, something to hide and be ashamed of. This creates a mindset that passes through the generations, that HD is like being in a terrible underground tunnel filled only with darkness, and the only way out is suicide, or to emerge with explosiveness and anger.”
By avoiding genetic testing and contact with doctors, HD people “delude themselves into thinking that they are not entering the dark tunnel,” she wrote.
The community needs to stop viewing HD “with hopelessness and despair,” she added.
“What makes a difference is what you do BEFORE you die,” she wrote. “I can tell any number of amazing stories of amazing people with HD and their families who have done amazing things for themselves, each other, the HD community, and the world at large. There IS life after a diagnosis of HD, but it can’t emerge if you are stuck in the dark tunnel.”
Everybody in HD families can and should to get involved, Dr. Nance observed.
“If you are scared, find a support group, or talk to your parent, sister, cousin, friend, pastor, teacher, or perhaps even your doctor,” she wrote. “If you have a family member who is unconnected, floating out there, undiagnosed, struggling, reach out to them. Bring them to an HD meeting, or have them come with you to YOUR appointment.”
Enroll-HD: proactive participation
I was numbed by the news of Joseph Pacini’s death.
After I had explored the Jeffrey Bane incident and then noted in my most recent article that HD activists had skillfully reacted by building HD awareness at an international police officers’ conference just weeks later, the Pacini incident seemed surreal.
Emotionally, I cast about for a way to react. I concluded that I could do nothing in the case of someone who had already died.
Then, reflecting on Dr. Nance’s encouraging words, I focused on how I could best contribute to the cause: I went for my January 5 appointment to register in Enroll-HD, a worldwide registry and observational study of HD patients, HD gene carriers like me, untested at-risk individuals, family members, and volunteers.
Enroll-HD aims to facilitate scientific understanding of HD, identify potential participants in all-crucial clinical trials, and therefore speed the process of finding treatments. Enroll-HD is sponsored by the CHDI Foundation, Inc., the non-profit virtual biotech focused solely on developing HD therapies.
I recalled what Joe Giuliano, CHDI’s director of clinical operations and the chief Enroll-HD administrator, told me last year: the larger the pool of potential clinical trial participants, the faster trials can take place.
At the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego, I provided a research assistant with information on my health and HD status, answered several health- and HD-related questionnaires, performed a battery of cognitive tests, underwent a neurological exam, and gave three vials of blood, which will be used to confirm my gene-positive status and provide evidence in the search for HD biomarkers (signs of the disease that can be used to test the efficacy of potential drugs).
I also participated in several HD research studies sponsored by the Center of Excellence.
Striving for a life lived well
During the four hours of testing, I worried that I might someday lose control as Joseph Pacini did.
My thoughts were troubled: what if I act aggressively towards my wife and daughter?
I found strength in Dr. Nance’s concluding observation about the HD-affected and gene carriers:
“A life lived WELL with HD can resonate into future generations just as easily as a difficult life or a terrible death.”
As long as I can, I will strive to defeat HD by assisting in the search for treatments and by spreading awareness and understanding.