Living in the gray zone between my genetic test for Huntington’s disease and the inevitable but indefinite onset of this devastating brain disorder, I frequently feel forgotten in the excited discussion about impending clinical trials to test potential treatments.
HD researchers want to include people like me in trials, but haven’t yet found a way to do so.
I am a victim in waiting, but without any of the noticeable, classic symptoms that would qualify me for participation in a clinical trial.
Because so much of the effort against HD is geared to helping the affected and the caregivers, I sometimes sense that we, the asymptomatic (or pre-manifest) gene-positive, have been relegated to second priority.
Emotional impact
I recognize that I am, for the time being, relatively fortunate, but the situation of perceived neglect, although unintentional, impacts me emotionally.
I wonder if symptomatic people feel jealous towards me – just as I have occasionally reacted with a furious inner jealousy when I learn that someone has tested negative. In other instances, I have briefly felt smug when I’m around or am thinking about people with symptoms.
In yet other instances, I feel compassion – and even profound guilt. I tell myself, “You have no right to worry! You’re not even sick! Your life hasn’t even been affected by the disease!”
Mostly, I just feel lucky to function normally and to have the opportunity to enjoy daily life.
But then I remember, “Yes, I have been affected by this disease. It took Mom’s life at only age 68, and it has robbed me and my family of so many dreams.”
I literally dreamt about my status last night as my mind worked on this article: a team of HD medical specialists put me through a series of exams to see whether symptoms had begun, and, as I awaited the results, I used a large red marker to edit this text.
Not coincidentally, it’s time to set up my annual checkup at the Huntington’s Disease Society of America’s Center of Excellence for Family Services and Research at the University of California, San Diego.
So far, those checkups have not turned up any of HD’s classic, outwardly noticeable symptoms.
But I am hyper-conscious of the fact that HD affects the brain ten or more years before those symptoms start. If an effective treatment isn’t found in the next few years, I will be doomed to follow in my mother’s footsteps.
Unable to reach the finish line?
The feelings of vulnerability and abandonment are magnified when I remember that no current or impending HD clinical trial includes participation of those of us who are pre-manifest.
In short, everything is currently focused on stopping HD already in progress. Nobody has yet developed a workable strategy for preventing the onset of HD.
Along with the scientists I have interviewed over the years, I am confident that a significant treatment or series of treatments will become available in the next decade or so to ameliorate the symptoms. Of course, I also hope for a “cure,” but scientists don’t use that term. They talk of controlling or managing the disease, because, of course, the defective HD gene cannot be removed from the body.
But I’m deeply worried that scientists will still take many more years beyond that to discover treatments for people like me, treatments that can stave off onset and/or minimize symptoms.
Ever since I tested positive in 1999, I have been racing against my own interior genetic clock to avoid symptoms and support the HD movement.
But the probability that my symptoms will start in the next few years leaves me with the sensation of the marathon runner who glimpses the finish line but ultimately cannot reach it.
Participation in studies
For now, pre-manifest people can participate in research studies. Whereas clinical trials aim specifically to test the safety, tolerability, and efficacy of a drug, studies seek to provide further information about a disease and/or strategies for treating it.
Studies can also include a test of safety and tolerability of a substance, as exemplified in the PREQUEL study, an investigation of coenzyme Q-10 exclusively in a pre-manifest group of 90 individuals. PREQUEL also aims to “assess the usefulness of certain markers of HD in the blood, which may help measure the rate of the disease progression or effects of medication.” Its coordinators aim to use it as precursor to a clinical trial of coenzyme Q-10, an antioxidant produced in the brain and that has led to the improvement of symptoms in HD mouse models.
Major studies involving pre-manifest people include PREDICT-HD, COHORT, and the forthcoming Enroll-HD, a new, worldwide HD database expected to start gathering information in early 2012. (Click here to read my previous article on Enroll-HD). Enroll-HD is sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” a multi-million-dollar effort backed by a group of anonymous donors.
Through the above-mentioned Center of Excellence, I have participated in a number of studies, including COHORT, MRI studies, research involving HD and the sense of smell, and an experiment with instruments designed to measure loss in mobility. (Click here and here to read more.) I have also given blood and, for many years, participated in cognitive batteries and a Dementia Rating Scale study. I also took part as the only pre-manifest individual in the Huntington’s Disease Drug Works program’s "treatment now" observational trial of supplements, a rare opportunity for someone in my situation.
A ‘long time’ to gene-positive trials
The federal Food and Drug Administration (FDA) will not permit pre-manifest people to participate in clinical trials until beneficial results have first been demonstrated in symptomatic patients. The FDA also requires that researchers come up with useful ways to measure benefits in the pre-manifest.
I became acutely aware of the challenges of designing a drug for the pre-manifest during a July 2009 interview with Dr. Frank Bennett, the senior vice president for research at Isis Pharmaceuticals, Inc., in Carlsbad, CA. Along with CHDI, Isis is planning a clinical trial of a revolutionary drug that, if successful, would attack HD at its genetic roots and slow or perhaps even stop the progression of the disease in the brain.
Dr. Bennett told me that although the clinical trial will focus only on symptomatic patients, he was “optimistic” that a way could be found to help the pre-manifest, too.
Exhilarated by the promise of a potential “cure,” I wrote several enthusiastic articles about Isis.
But privately I also felt somewhat desperate, because, as Dr. Bennett explained, finding a solution for the pre-manifest would take a “long time.”
“Identifying when to start treating those patients is going to be a little tricky, as you might imagine, because you don’t want to do it too soon,” he said. By the same token, Dr. Bennett added, waiting too long would miss the opportunity to protect brain cells, which, once damaged, could not recover. “This is not a short-term fix but it’s something that’s going to take a large number of years to figure out how to optimally treat these patients.”
Other path-breaking clinical trials face similar hurdles. Alnylam Pharmaceuticals, which is close to starting its own clinical trial for a similar attack on the disease’s genetic causes, plans to inject its drug directly into the heads of patients, but they must first undergo an operation so that a very fine needle can be inserted into their brains (click here to read more). Medically, scientifically, and ethically speaking, only symptomatic patients can undergo the many risks of such a trial.
As Dr. Bennett and others have noted, the FDA will display great caution with these new kinds of drugs as well as the highly invasive delivery systems. Isis and Alnylam are striving to minimize levels of risk and invasiveness.
Seeking the Holy Grail
HD researchers face a major challenge in finding a treatment for the pre-manifest. It’s really the Holy Grail not only for HD, but also for other neurological diseases such as Alzheimer’s in which brain damage occurs many years before symptoms appear. Ideally, researchers want to design medications that will completely prevent these diseases.
In a recent e-mail to me, CHDI President Robi Blumenstein elaborated on this point with an analogy.
“The purpose of a cholesterol-lowering drug is to prevent heart disease, not lower cholesterol for its own sake,” he explained. “Cholesterol-lowering drugs were tested on people at risk for heart disease. By analogy, we would like to test HD drugs on gene-positive people (like you) at risk of developing symptoms of HD to see if the intervention prevents the appearance of symptoms (that is, slows or arrests the progression of the disease).”
So, as researchers ramp up to clinical trials, this challenge is gaining greater attention. At the World Congress on Huntington’s Disease in Melbourne, Australia, in early September, several scientists revealed their research into areas directly related to this challenge, including a study of brain changes in the pre-manifest, the development of measurements from MRI brain scans to predict and track symptoms, and a report on how functional MRI scans can detect brain activity changes before brain shrinkage occurs. (For details click here.)
In his remarks at the World Congress, Blumenstein pointed out that researchers need both gene-positive and affected individuals to participate in research studies now in order to prepare adequate measurement tools for clinical trials.
“It would be a shame if we have potential drugs to test but lack the tools to conduct the tests to see if they are having the desired effect,” Blumenstein wrote to me.
“What the FDA will accept for regulatory purposes (i.e., to approve a drug) and whether we can satisfy ourselves that we are on the right track scientifically to modify the disease are two different questions,” he added. “We will need people like you to participate in studies and, yes, trials to establish the latter. When we are successful with that the former may require some education and lobbying of the regulators to convince them that new approaches to approving drugs for genetic diseases are appropriate.”
Waiting in the wings
For the beleaguered Huntington’s disease community, clinical trials of potential treatments provide a ray of hope.
Looking back to my mother’s diagnosis in 1995, I recognize that researchers have made stunning progress. But big hurdles remain, especially in developing preventive treatments for the pre-manifest.
I share the researchers’ optimism, but I temper it with a sober assessment of the complexity of the challenges.
For me, time is ever more precious.
Once again, it’s crystal clear that researchers ultimately rely on the participation of HD-affected families. Everybody can play a part – the untested at risk and the pre-manifest in research studies, and the affected in clinical trials.
The affected will bravely pioneer treatments by initiating the trials.
For the time being, however, gene-positive individuals like me must wait in the wings.
But we can assist immensely by supporting the affected, advocating for the cause, and, perhaps most importantly, taking part in the appropriate studies and experiments.
Together we dream of the day when we can all declare: “I’m HD-free!”
Today, being gene-positive for Huntington’s disease threatens the well-being of me and my family. But if the science continues to accelerate, it will provide hope that carrying the HD gene will become little more than an inconvenience.
Wednesday, November 30, 2011
Monday, November 21, 2011
An HD Thanksgiving toast
Thanksgiving is my favorite holiday.
Just when the year threatens to become frenetic, Thanksgiving intervenes with a hearty feast and family warmth.
When I was about twelve, I wrote a letter to my aunt Claralou praising her for the peaceful and welcoming atmosphere of her annual Thanksgiving celebration. She displayed my letter on her refrigerator door, and it appeared there again year after year as a remembrance of the true spirit of Thanksgiving.
My mother helped her and the other women with the turkey roasting in the oven for what seemed like forever, while my father, my uncle, and the other men drank beer, talked, and tended to us eight cousins stuffed into the house.
Nobody was a smoker, but on Thanksgiving my dad and my uncle would light up cigars and smell up the den where the football classics were playing on TV and I tried to learn how to use a nutcracker. One year they let us try a few puffs. I felt cool and manly.
Thanksgiving put the brakes on schoolwork, and, in college, when I spent the holiday on the East Coast, it saved me from completely exhausting myself.
I also like Thanksgiving because, of all the holidays, it has resisted commercialization the most. Aside from a trip to the supermarket for dinner items, the urge to buy is absent. (Black Friday is definitely not about Thanksgiving, but Christmas.)
Now in her 80s, Aunt Claralou still celebrates Thanksgiving in the same home, but, living in California with my own family, I haven’t had the chance to spend the holiday there.
My parents are gone – my mother the victim of Huntington’s disease in 2006 at the age of 68, my father, the “HD warrior,” dead at nearly 82 from a broken heart a little more than two years ago.
Ever since we learned of my mother’s diagnosis the day after Christmas in 1995, Thanksgiving has taken on a more profound meaning. For me, it really is a time to take stock of all the good in my life – even though I have lived in wait and dread of HD after testing positive in 1999.
Despite the enormous worries about our future, my family and I are thriving. My wife continues to work full-time as a teacher. Last weekend she ran her sixth half-marathon since taking up running in early 2010. Our “miracle baby,” who tested negative in the womb, is performing well in sixth grade and preparing to take the private-school entrance exam. And, as I look to my 52nd birthday in less than two months, an age at which HD had already stricken my mother, I have displayed none of the classic symptoms of HD.
Along with my wife and daughter, I have experienced the simplest yet profoundest joys of life (click here to read more). Last Saturday our daughter played her last soccer game of the season. As she played one of her best games, I doubled on the sidelines as the assistant coach and team videographer, and my wife cheered them on and made sure the half-time snacks were ready. Later in the afternoon we attended the year-end party, where I was moved by the girls’ unity and laughter and the realization that we parents were a team just as united in our devotion to our daughters.
I feel a special debt of gratitude to the many people engaged in the fight against HD: the members and administrators of the four organizations combating the disease; the HD people and their families fighting the good fight each day; the physicians and caregivers; and the scientists and pharmaceutical companies on a quest for treatments and a cure.
I am continually moved by the circle of close friends who pray for and support for me in numerous ways – especially Norman Oder, the editor of this blog and my “HD alter ego.”
I also want to thank you, my readers, for sharing with me the harrowing odyssey of living gene-positive for a condition described as “the devil of all diseases.” In posted comments, on Facebook, through e-mail, and even in phone calls, you have expressed your unflagging support for me personally and confidence in our collective fight to defeat HD.
Knowing that you are listening, challenging, and cheering me on provides me with an immense emotional strength, and hearing about your valiant efforts against HD inspires me.
As I share both a ham and turkey with our guests on Thursday, I’ll raise a toast of thanks to you.
Just when the year threatens to become frenetic, Thanksgiving intervenes with a hearty feast and family warmth.
When I was about twelve, I wrote a letter to my aunt Claralou praising her for the peaceful and welcoming atmosphere of her annual Thanksgiving celebration. She displayed my letter on her refrigerator door, and it appeared there again year after year as a remembrance of the true spirit of Thanksgiving.
My mother helped her and the other women with the turkey roasting in the oven for what seemed like forever, while my father, my uncle, and the other men drank beer, talked, and tended to us eight cousins stuffed into the house.
Nobody was a smoker, but on Thanksgiving my dad and my uncle would light up cigars and smell up the den where the football classics were playing on TV and I tried to learn how to use a nutcracker. One year they let us try a few puffs. I felt cool and manly.
Thanksgiving put the brakes on schoolwork, and, in college, when I spent the holiday on the East Coast, it saved me from completely exhausting myself.
I also like Thanksgiving because, of all the holidays, it has resisted commercialization the most. Aside from a trip to the supermarket for dinner items, the urge to buy is absent. (Black Friday is definitely not about Thanksgiving, but Christmas.)
Now in her 80s, Aunt Claralou still celebrates Thanksgiving in the same home, but, living in California with my own family, I haven’t had the chance to spend the holiday there.
My parents are gone – my mother the victim of Huntington’s disease in 2006 at the age of 68, my father, the “HD warrior,” dead at nearly 82 from a broken heart a little more than two years ago.
Ever since we learned of my mother’s diagnosis the day after Christmas in 1995, Thanksgiving has taken on a more profound meaning. For me, it really is a time to take stock of all the good in my life – even though I have lived in wait and dread of HD after testing positive in 1999.
Despite the enormous worries about our future, my family and I are thriving. My wife continues to work full-time as a teacher. Last weekend she ran her sixth half-marathon since taking up running in early 2010. Our “miracle baby,” who tested negative in the womb, is performing well in sixth grade and preparing to take the private-school entrance exam. And, as I look to my 52nd birthday in less than two months, an age at which HD had already stricken my mother, I have displayed none of the classic symptoms of HD.
Along with my wife and daughter, I have experienced the simplest yet profoundest joys of life (click here to read more). Last Saturday our daughter played her last soccer game of the season. As she played one of her best games, I doubled on the sidelines as the assistant coach and team videographer, and my wife cheered them on and made sure the half-time snacks were ready. Later in the afternoon we attended the year-end party, where I was moved by the girls’ unity and laughter and the realization that we parents were a team just as united in our devotion to our daughters.
I feel a special debt of gratitude to the many people engaged in the fight against HD: the members and administrators of the four organizations combating the disease; the HD people and their families fighting the good fight each day; the physicians and caregivers; and the scientists and pharmaceutical companies on a quest for treatments and a cure.
I am continually moved by the circle of close friends who pray for and support for me in numerous ways – especially Norman Oder, the editor of this blog and my “HD alter ego.”
I also want to thank you, my readers, for sharing with me the harrowing odyssey of living gene-positive for a condition described as “the devil of all diseases.” In posted comments, on Facebook, through e-mail, and even in phone calls, you have expressed your unflagging support for me personally and confidence in our collective fight to defeat HD.
Knowing that you are listening, challenging, and cheering me on provides me with an immense emotional strength, and hearing about your valiant efforts against HD inspires me.
As I share both a ham and turkey with our guests on Thursday, I’ll raise a toast of thanks to you.
Monday, November 14, 2011
Finding America’s passion: the NFL and Huntington’s disease
In a poignant night of football talk and appeals to combat Huntington’s disease, San Diego’s eleventh annual Celebration of Hope Gala put the National Football League (NFL) front and center in the campaign to protect the health of our most important organ: the brain.
NFL Commissioner Roger Goodell headlined the event, titled “NFL: America’s Passion.” Held by the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego) on November 9, 2011, the gala attracted a record audience of some 600 people at the Manchester Grand Hyatt hotel, including sports celebrities and representatives of major donors such as Qualcomm.
Goodell, interviewed on stage by ESPN football analyst Chris Berman, addressed such controversial topics as recently “testy” player-owner relations and the San Diego Chargers’ quest for a new stadium. Perhaps most of all, Goodell recognized how the NFL must take the lead in making football a safer game for players and, I’d add, especially their brains.
NFL Commissioner Roger Goodell headlined the event, titled “NFL: America’s Passion.” Held by the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego) on November 9, 2011, the gala attracted a record audience of some 600 people at the Manchester Grand Hyatt hotel, including sports celebrities and representatives of major donors such as Qualcomm.
Goodell, interviewed on stage by ESPN football analyst Chris Berman, addressed such controversial topics as recently “testy” player-owner relations and the San Diego Chargers’ quest for a new stadium. Perhaps most of all, Goodell recognized how the NFL must take the lead in making football a safer game for players and, I’d add, especially their brains.
Chris Berman (left) and NFL Commissioner Roger Goodell (photo by Mike Nowak)
“Part of our labor agreement was player health and safety and how we make the game safer,” Goodell explained about the recently signed accord between the owners and the players’ union. “I firmly believe the game is safer and more popular than ever, but I think we can do better…. That’s priority one.”
Goodell cited reducing physical contact during training camp, avoiding the creation of a longer season until the game becomes safer, and prohibiting techniques that lead to frequent injuries.
Goodell’s comments come as concern about brain injuries heightens in the wake of growing evidence about the dangers of concussions not only for the hard-hitting professional players, but the millions of youths who play at all levels.
You can watch the Berman-Goodell interview in the video below.
The football-HD research connection
Although nobody explicitly made a connection between research on brain injuries and HD, both fall into an area of inquiry in which understanding and treating one condition can bring benefits to sufferers of other conditions.
HD research sheds light on Alzheimer’s, Parkinson’s, Lou Gehrig’s, and a host of other brain conditions. Stroke and spinal cord injuries enter the mix, too.
So it’s conceivable that HD research – which has led scientists to plumb the mysteries of the brain – could suggest strategies for preventing and treating brain injuries such as those sustained by athletes.
Even without an explicit mention of an HD-concussion link, the gala drove home the point by bringing together Goodell, HDSA-San Diego, Chargers President Dean Spanos, and other leaders of the football world.
Berman’s lessons from the Johnstons
Prior to his conversation with Goodell, Berman, the gala emcee, underscored the tragedy of HD by recalling his long friendship and professional collaboration with Bill Johnston, the Chargers’ PR director and the husband of Ramona Johnston, who is in the late stages of HD.
“Being a PR director in the NFL is very hard work, but I thought that he was like me,” recounted Berman. “He had a very attractive wife and two very nice children. But I realized that, while that was all true, when Ramona came down with Huntington’s disease, I learned that he and the Johnstons were quite not like me. What I knew was only ten percent, maybe, of what he, Mona, and the children go through each day.”
To hear more of Berman’s remarks, watch the video below.
(You can read more about the Johnstons by clicking here.)
Introducing Ramona
Johnston was the prime mover behind the gala. Ramona was diagnosed with HD in 1999. Unable to care for herself, she has resided the past several years at Edgemoor Hospital, a public facility for people with HD and other debilitating conditions.
“It’s just a horrible, horrible disease,” Johnston explained. “Some have called it the devil of all diseases, because of the symptoms and how it affects people and families. It’s a brain disease that causes brain cells to die.
“And your brain controls obviously everything that you are, mentally, physically. Your brain is who you are, in so many ways. This disease robs you of who you are.”
The Johnstons’ son Jared and another young man then helped Ramona from her wheelchair and onto the stage. They held her in a standing position as Johnston continued his powerful and wrenching testimony.
“If Mona could talk right now, she would just say thank you – thank you for being here – and tell the world about this disease,” Johnston told the audience, his voice filled with emotion. “Tell anyone you can tell. Because you are here to make a difference, and you are making a difference.”
You can watch Johnston and Ramona in the video below.
The Johnstons and HDSA-San Diego
In 1999, I myself tested positive for HD. I vividly remember speaking with Ramona at a benefit walk-run co-sponsored by the Chargers. We commiserated with each other about our gene-positive status.
Ramona was still very lucid, though her symptoms had already started. As I watched her decline over the years as my mother also succumbed to the disease (she died in 2006), I knew that I would follow in their footsteps. Ramona is now 52 – just one year older than I.
Along with Johnston, HDSA-San Diego board members, and numerous volunteers, I have worked assiduously to raise the profile of HD. I attended dozens of board meetings at which Johnston was present. I’ve visited Edgemoor a number of times, several of them with Bill, to gather information and take photos for the HDSA-San Diego website and publications. He and I have exchanged literally thousands of e-mails about all aspects of the HD cause.
In October 2007, I arranged for Bill and Ramona to appear before the oversight committee for California’s multi-billion-dollar state stem-cell initiative to make a plea for HD research funding.
In all, I estimate that in the past decade the San Diego chapter has raised more than $2 million for HDSA.
Sharing the pain
At the gala, I commiserated with another emerging leader of the HD movement, Katie Moser. Katie supports the cause through her position as manager of advocacy and patient support with Lundbeck, the pharmaceutical company that markets Xenazine (tetrabenazine), the first federally approved drug for chorea, the dance-like movements and tremors typical in HD.
“Lundbeck has established a strong relationship with the HD community in the U.S. over the past two and a half years,” Moser told the audience. “I am fortunate to be a part of Lundbeck, because, as some of you might know, I grew up in a family affected by Huntington’s disease, and in 2005 I had the genetic test that shows that I have the genetic mutation that will cause the disease.”
As a sign of hope for the HD community, Moser reported on Lundbeck’s renewed commitment to finding treatments.
Gene Veritas and Katie Moser
I also greeted the Johnstons’ 23-year-old daughter Hayley, a co-chair of the gala and an energetic and highly focused board member who is at risk for HD but has yet to test for the condition. Several years ago her older brother Jared, now 26, tested negative.
Earlier I helped man an HDSA information table, where other volunteers and I solicited people’s e-mail addresses for our chapter database and asked them to sign a petition urging passage of the Huntington’s Disease Parity Act of 2011, a bill in Congress that would make it easier for HD patients to obtain their rightful federal benefits. Terry Leach, a 14-year-old stricken with juvenile Huntington’s disease and confined to a wheelchair, handed out blue HDSA “Care2Cure” wristbands.
At dinner I sat at a table with Hayley’s work colleagues from Qualcomm and also Lindsey Zan, an untested, at-risk woman and one of five people featured in a moving video screened at the gala.
Support from the Chargers
Throughout the Johnston family’s personal ordeal and the San Diego chapter’s collective efforts to raise funds and awareness, the Chargers organization has lent its support in numerous ways, including sponsorships and other donations totaling hundreds of thousands of dollars.
In addition to this year’s gala, Chargers President Dean Spanos and his wife Susie have attended and supported a number of past galas, and Dean’s father and team owner Alex Spanos has also donated to the effort. Dean and Susie’s two sons have also participated in a number of HDSA-San Diego events.
The family is well aware of the fragility of our brains. In 2008, Alex, at 85 and afflicted by severe dementia, wrote a holiday letter to his family lamenting his loss of memory and expressing his love for them. Susie’s father had Alzheimer’s.
In 2003, Dean and Susie Spanos were honored at HDSA’s annual Guthrie Awards Dinner in New York. At the 2008 dinner, Johnston was awarded HDSA’s Marjorie Guthrie Leadership Award. On hand were HDSA-San Diego board members, former New York Governor George Pataki and his wife Libby, the Spanoses, and Goodell.
A cerebral matter for everybody
The San Diego gala hit the mark in describing the NFL as “America’s passion.”
As I have written before, “the Sunday ritual of watching football has taken over as the national religion, a religion where people profess a belief in sports as the path to success in life.” Rooting for our favorite team also permits us to unleash our instinctual tribalism and the primordial exercise of violence.
From left to right, NFL Network analysts Marshall Faulk, Deion Sanders, Michael Irvin, Steve Mariucci, and Rich Eisen close out the gala with football banter and joking with the audience (photo by Mike Nowak).
But the gala transformed that passion from something primeval into a cerebral affair: first, in an intellectual sense, by discussing it a high level, and, secondly, in a literal sense, by recognizing the primacy of the brain.
Playing excellent football requires the utmost stretching of the brain’s powers as the athlete strives for perfect physical coordination and intelligent tactics and strategies.
Promoting brain health requires that we protect, nourish, and exercise our brains. This includes wearing a helmet during football, but it also means redesigning the game, gear, and rules.
Ultimately, I hope, the cerebral passion of the NFL will make brain research a national priority at a time when HD, Alzheimer’s, and other brain disorders are beginning to strain our resources with a massive caregiving burden. Goodell, the NFL teams, and the league hold great sway in our society and have the power to mobilize people in a grand cause.
As an HD-positive person praying each day not to become like my mother, Ramona, and thousands of other Americans who have fallen victim to HD, I fervently hope that the NFL will take the lead of the Chargers, joining the campaign to end HD and protect the brain.
Monday, November 07, 2011
Huntington’s disease in the news and entertainment media – Part II: A suicide on TV
I’m not going to die a slow death from Huntington’s. I’m not going the way my mother did…. It’s time, Amelia. I mean, I’ve had great food, great sex, great love in my life, and a great friend. I’m happy, and I’m ready. I need you to help me die.
With those words, 30-year-old Michelle, whose HD symptoms had recently started, asks her doctor to assist her in committing suicide.
Michelle and Amelia are fictional characters in the ABC television network’s evening drama Private Practice, but the scenes in which they act (broadcast on October 27, 2011) represent the stark psychological reality of HD patients, untested at-risk individuals, and gene-positive people like me.
According to a 2005 landmark study of HD and the risk of suicide conducted by the international Huntington’s Study Group (HSG), HD patients commit suicide an estimated seven to 200 times more often than the general population, although the data are complex because of the diverse scientific methodologies employed in the research. “Indeed, our current ability to predict actual suicide is poor,” the study states (click here to read more).
A 2010 article by Dutch medical school professor Raymund Roos reported that after pneumonia, the leading cause of death in HD patients is suicide.
Other studies have demonstrated that suicide risk increases around the time of genetic testing for HD (click here to see one example).
In the Private Practice episode, Michelle goes through with her plan, only to change her mind when an injection applied by Amelia leaves her unable to breathe. After her revival in a hospital emergency room, Michelle makes another attempt, this time alone. Amelia discovers her dead body on top of a bed with an open bottle of pills at her side.
Disturbing thoughts
This was an even more painful depiction of HD in the popular media than, as I described in Part I of this two-part series, the Dear Prudence column recounting the story of a young mom who learned just days after the birth of her son that her mother-in-law had HD. That news signified that the father and the baby were also at risk for HD, putting the dad and possibly the son in the difficult situation of requiring a genetic test. In the article I recalled my own anxiety-ridden process of decision-making, which led to my positive test for HD in June 1999 and, six months later, my daughter’s negative test in the womb.
Thinking about the Private Practice episode stirs up disturbing recollections of my suicidal thoughts in the years before and after my genetic test, although not at the moment of the test itself.
My mother had been diagnosed with HD in 1995. Distressed, I watched her revert to a childlike state. I remember vividly how, during one of her visits at our San Diego condo, she ate with her hands. She was also rapidly losing the ability to speak.
“I don’t want to be a gimp,” I remember angrily telling myself, fearing that I might have the HD gene and would become severely disabled.
A farewell ceremony
As a Catholic, I had grown up with the belief that suicide was a sin. As an adult, I still considered it wrong as well as a terrible waste of a human life, no matter what the condition of the person. Life was a gift from God, and only God could take it away.
But HD so relentlessly destroyed my mother’s humanity that I began to think differently about suicide.
On several occasions I declared to my wife that I would rather end my life than face HD symptoms.
I especially feared losing my ability to pursue my greatest passions, reading and writing.
I created a film in my mind in which I invited my closest friends and my wife to a farewell ceremony after which I would, like Socrates, drink a cup of poison.
With a mixture of fear and bravado, I even told my wife about this plan.
Whenever we spoke about HD, she would offer words of hope. However, she kept silent on the topic of suicide. I could tell by the look in her eyes that these declarations scared her.
A devastating option
On the day I received my HD test results in 1999, my wife and I entered a state of emotional shock. As I pulled my new Corolla out of the clinic parking garage, I became distracted and scraped the right fender against a column.
But I did not think of suicide.
I was angry – but also filled with a resolve to fight back. Testing positive for HD changed my life forever. It cast upon me a pall of fear and anxiety, but it also energized me to live life to the fullest.
In the next few years, thoughts of suicide lingered for a while but eventually left my conscious self.
The birth of our HD-negative “miracle baby” in June 2000 – just a few weeks after the first anniversary of my positive test – transformed my thinking about HD and suicide.
First of all, I was so overjoyed at her arrival, and then so busy helping care for her, that I had much less time for dwelling on HD.
Secondly, my fatherly instinct kicked in. With a family to love and support, and who unconditionally lent me their love and support, I began to see the absurdity of committing suicide – at least while I was still free of symptoms.
As I wrote a few years later, “Suicide would spare my family an exhausting, financially ruinous burden. I would not suffer like the HD patients I recently saw at a nursing home, writhing uncontrollably, wearing diapers, belted in a special chair or confined to a padded room. But a suicide would devastate my daughter.”
Dredging up difficult feelings
So I buried thoughts of killing myself. I also channeled much of my anxiety into an increasing level of advocacy work for the Huntington’s Disease Society of America.
After my mother died in February 2006, I became paralyzed by the fear of onset. For nearly nine months, I did not write in this blog.
Yet I had no fantasies of suicide during that long and dark night, although I most certainly thought about death every day.
Since then, I have gained psychological stability and worked hard to avoid symptoms. Surely luck plays a part in the fact that I am approaching my mother’s age of clear onset without any classical signs of HD.
But watching and then reflecting on the Private Practice episode dredged up the difficult recollections I am sharing with you here.
Analyzing Private Practice
I tracked a debate among some members of the HD Facebook community about the pros and cons of the episode, especially regarding whether it accurately portrays the reality of HD people. A number criticized the program for focusing on suicide, while others welcomed the exposure HD received.
Private Practice is actually just the latest in a line of TV productions about HD stretching back to the 1960s. For a detailed explanation of that history, you can click here to watch a video of the keynote speaker at the 2009 HD research conference sponsored by the CHDI Foundation, Inc., the so-called “cure HD initiative,” backed by wealthy, anonymous donors.
The Private Practice episode uses HD as a vehicle to demonstrate the dilemma experienced by physician Amelia in her decision to assist Michelle with suicide.
To the extent that it portrays HD and suicide, I believe the episode is fairly accurate. I very much identified with Michelle’s fears of turning out like her mother. Like her, I frequently thought of planning a suicide for a moment in my life when I could still properly say good-bye.
Suicide as preoccupation
Cleary, as the HSG and Roos articles point out, thoughts of suicide preoccupy many HD people in the at-risk, gene-positive, and affected categories.
Based on a study of “suicidal ideation” in 4,171 individuals in the HSG database, the HSG study determined several critical periods for suicide in HD: the time leading up to diagnosis, onset and the start of early “soft” symptoms (when people can still actually plan a suicide), and the period in which patients lose the ability to perform such tasks as driving and become dependent on others for daily living.
In contrast with popular belief, the HSG report emphasizes that getting diagnosed actually reduces suicidal thoughts: “Receiving a diagnosis of a devastating fatal disease does not exacerbate, and may even alleviate, the risk of suicide.”
Dramatizing HD
We need to keep in mind that Private Practice is entertainment – not a documentary.
Clearly the creators of the program compressed Michelle’s experience into an extremely short period of time in order to dramatize the symptoms of HD.
All humans have a huntingtin gene with a series of components known as CAG repeats. Healthy people have ten to 29 repeats. Forty or more repeats signify that a person will develop HD. In general, the higher the repeats, the younger the onset.
My mother had 40 repeats, and so do I. Evidence demonstrates that this level of defect will lead a person to develop the disease roughly between his or her late forties and mid-fifties.
Michelle has 43 repeats and already has strong symptoms at age 30 – possible but unlikely.
She occasionally displays dance-like movements in her arms, a sign of the classic symptom of HD known as chorea. Amelia describes her as having “tremors, rigidity, seizures.”
Symptoms, but no hope
In debating assisted suicide with fellow physicians, Amelia points out that Michelle’s prognosis is not good. “What if you were seizing and drooling and losing control of your muscles, of your bowels, of your mind?” she says. “Would you want to stick around for that?”
Another doctor counters that Michelle is still “lucid” and “functional” and can get assistance from a support group and other HD services.
These symptoms appear to be accurate, at least in the long haul of an HD person’s existence.
However, as I observed about the Dear Prudence column, the Private Practice episode also fails to note the immense gains in research that would certainly give someone like Michelle reason to hope for a treatment or even a cure in her lifetime.
Ending a life
On the day of the incident, Michelle lies on a couch as Amelia prepares to administer the medications that will halt her life. Amelia explains that after Michelle dies, she will call the police. She warns Michelle she might end up in an irreversible coma.
“I don’t want to get you in trouble,” Michelle says with worry in her voice.
“I don’t want you to suffer,” Amelia responds sorrowfully but with determination to help her friend.
After the aborted first attempt with Amelia’s help, Michelle expresses doubt about her decision to die. She displays an apparently renewed desire to live, and even a bit of humor in a conversation with Amelia.
However, apparently still despondent about her situation, she ends her life.
Testing and planning for the future
The program and especially the research articles about HD can serve as an important starting point for the HD community to discuss openly one of the most difficult of issues: suicide. As the program illustrates, for an HD person and his or her physician, assisted suicide involves questions of health but also of moral values.
As I pointed out in the article on Dear Prudence, gene-positive individuals can contribute immensely to the quest for treatments and a cure.
After testing, I became “Gene Veritas,” the truth in my genes. If you are an at-risk individual, you can discover your own truth – and plan for it accordingly.
I believe that in my personal case, I would have had more suicidal thoughts had I not been tested.
Obviously, a decision to test is a highly personal one. But, with the increased understanding of HD resulting from research, it’s time for our community to see it in a new light.
Feeling mortal
At the same time, I admit that I deeply fear the moment of onset. I realize – from reading the HSG study but also in consulting my heart – that the fear of becoming a “gimp” could potentially lead me to act like Michelle.
We all deny death on a daily basis. Without that denial, we couldn’t function as individuals and as a civilization.
After my mother’s diagnosis, I was forced to confront the idea of a horrible, early death. I have learned to become especially skillful in my use of denial.
But how will I perceive my life when the inevitable onset begins? I dread that moment.
Watching Private Practice and writing about it have once again left me feeling painfully insecure – and mortal.
With those words, 30-year-old Michelle, whose HD symptoms had recently started, asks her doctor to assist her in committing suicide.
Michelle and Amelia are fictional characters in the ABC television network’s evening drama Private Practice, but the scenes in which they act (broadcast on October 27, 2011) represent the stark psychological reality of HD patients, untested at-risk individuals, and gene-positive people like me.
According to a 2005 landmark study of HD and the risk of suicide conducted by the international Huntington’s Study Group (HSG), HD patients commit suicide an estimated seven to 200 times more often than the general population, although the data are complex because of the diverse scientific methodologies employed in the research. “Indeed, our current ability to predict actual suicide is poor,” the study states (click here to read more).
A 2010 article by Dutch medical school professor Raymund Roos reported that after pneumonia, the leading cause of death in HD patients is suicide.
Other studies have demonstrated that suicide risk increases around the time of genetic testing for HD (click here to see one example).
In the Private Practice episode, Michelle goes through with her plan, only to change her mind when an injection applied by Amelia leaves her unable to breathe. After her revival in a hospital emergency room, Michelle makes another attempt, this time alone. Amelia discovers her dead body on top of a bed with an open bottle of pills at her side.
Disturbing thoughts
This was an even more painful depiction of HD in the popular media than, as I described in Part I of this two-part series, the Dear Prudence column recounting the story of a young mom who learned just days after the birth of her son that her mother-in-law had HD. That news signified that the father and the baby were also at risk for HD, putting the dad and possibly the son in the difficult situation of requiring a genetic test. In the article I recalled my own anxiety-ridden process of decision-making, which led to my positive test for HD in June 1999 and, six months later, my daughter’s negative test in the womb.
Thinking about the Private Practice episode stirs up disturbing recollections of my suicidal thoughts in the years before and after my genetic test, although not at the moment of the test itself.
My mother had been diagnosed with HD in 1995. Distressed, I watched her revert to a childlike state. I remember vividly how, during one of her visits at our San Diego condo, she ate with her hands. She was also rapidly losing the ability to speak.
“I don’t want to be a gimp,” I remember angrily telling myself, fearing that I might have the HD gene and would become severely disabled.
A farewell ceremony
As a Catholic, I had grown up with the belief that suicide was a sin. As an adult, I still considered it wrong as well as a terrible waste of a human life, no matter what the condition of the person. Life was a gift from God, and only God could take it away.
But HD so relentlessly destroyed my mother’s humanity that I began to think differently about suicide.
On several occasions I declared to my wife that I would rather end my life than face HD symptoms.
I especially feared losing my ability to pursue my greatest passions, reading and writing.
I created a film in my mind in which I invited my closest friends and my wife to a farewell ceremony after which I would, like Socrates, drink a cup of poison.
With a mixture of fear and bravado, I even told my wife about this plan.
Whenever we spoke about HD, she would offer words of hope. However, she kept silent on the topic of suicide. I could tell by the look in her eyes that these declarations scared her.
A devastating option
On the day I received my HD test results in 1999, my wife and I entered a state of emotional shock. As I pulled my new Corolla out of the clinic parking garage, I became distracted and scraped the right fender against a column.
But I did not think of suicide.
I was angry – but also filled with a resolve to fight back. Testing positive for HD changed my life forever. It cast upon me a pall of fear and anxiety, but it also energized me to live life to the fullest.
In the next few years, thoughts of suicide lingered for a while but eventually left my conscious self.
The birth of our HD-negative “miracle baby” in June 2000 – just a few weeks after the first anniversary of my positive test – transformed my thinking about HD and suicide.
First of all, I was so overjoyed at her arrival, and then so busy helping care for her, that I had much less time for dwelling on HD.
Secondly, my fatherly instinct kicked in. With a family to love and support, and who unconditionally lent me their love and support, I began to see the absurdity of committing suicide – at least while I was still free of symptoms.
As I wrote a few years later, “Suicide would spare my family an exhausting, financially ruinous burden. I would not suffer like the HD patients I recently saw at a nursing home, writhing uncontrollably, wearing diapers, belted in a special chair or confined to a padded room. But a suicide would devastate my daughter.”
Dredging up difficult feelings
So I buried thoughts of killing myself. I also channeled much of my anxiety into an increasing level of advocacy work for the Huntington’s Disease Society of America.
After my mother died in February 2006, I became paralyzed by the fear of onset. For nearly nine months, I did not write in this blog.
Yet I had no fantasies of suicide during that long and dark night, although I most certainly thought about death every day.
Since then, I have gained psychological stability and worked hard to avoid symptoms. Surely luck plays a part in the fact that I am approaching my mother’s age of clear onset without any classical signs of HD.
But watching and then reflecting on the Private Practice episode dredged up the difficult recollections I am sharing with you here.
Analyzing Private Practice
I tracked a debate among some members of the HD Facebook community about the pros and cons of the episode, especially regarding whether it accurately portrays the reality of HD people. A number criticized the program for focusing on suicide, while others welcomed the exposure HD received.
Private Practice is actually just the latest in a line of TV productions about HD stretching back to the 1960s. For a detailed explanation of that history, you can click here to watch a video of the keynote speaker at the 2009 HD research conference sponsored by the CHDI Foundation, Inc., the so-called “cure HD initiative,” backed by wealthy, anonymous donors.
The Private Practice episode uses HD as a vehicle to demonstrate the dilemma experienced by physician Amelia in her decision to assist Michelle with suicide.
To the extent that it portrays HD and suicide, I believe the episode is fairly accurate. I very much identified with Michelle’s fears of turning out like her mother. Like her, I frequently thought of planning a suicide for a moment in my life when I could still properly say good-bye.
Suicide as preoccupation
Cleary, as the HSG and Roos articles point out, thoughts of suicide preoccupy many HD people in the at-risk, gene-positive, and affected categories.
Based on a study of “suicidal ideation” in 4,171 individuals in the HSG database, the HSG study determined several critical periods for suicide in HD: the time leading up to diagnosis, onset and the start of early “soft” symptoms (when people can still actually plan a suicide), and the period in which patients lose the ability to perform such tasks as driving and become dependent on others for daily living.
In contrast with popular belief, the HSG report emphasizes that getting diagnosed actually reduces suicidal thoughts: “Receiving a diagnosis of a devastating fatal disease does not exacerbate, and may even alleviate, the risk of suicide.”
Dramatizing HD
We need to keep in mind that Private Practice is entertainment – not a documentary.
Clearly the creators of the program compressed Michelle’s experience into an extremely short period of time in order to dramatize the symptoms of HD.
All humans have a huntingtin gene with a series of components known as CAG repeats. Healthy people have ten to 29 repeats. Forty or more repeats signify that a person will develop HD. In general, the higher the repeats, the younger the onset.
My mother had 40 repeats, and so do I. Evidence demonstrates that this level of defect will lead a person to develop the disease roughly between his or her late forties and mid-fifties.
Michelle has 43 repeats and already has strong symptoms at age 30 – possible but unlikely.
She occasionally displays dance-like movements in her arms, a sign of the classic symptom of HD known as chorea. Amelia describes her as having “tremors, rigidity, seizures.”
Symptoms, but no hope
In debating assisted suicide with fellow physicians, Amelia points out that Michelle’s prognosis is not good. “What if you were seizing and drooling and losing control of your muscles, of your bowels, of your mind?” she says. “Would you want to stick around for that?”
Another doctor counters that Michelle is still “lucid” and “functional” and can get assistance from a support group and other HD services.
These symptoms appear to be accurate, at least in the long haul of an HD person’s existence.
However, as I observed about the Dear Prudence column, the Private Practice episode also fails to note the immense gains in research that would certainly give someone like Michelle reason to hope for a treatment or even a cure in her lifetime.
Ending a life
On the day of the incident, Michelle lies on a couch as Amelia prepares to administer the medications that will halt her life. Amelia explains that after Michelle dies, she will call the police. She warns Michelle she might end up in an irreversible coma.
“I don’t want to get you in trouble,” Michelle says with worry in her voice.
“I don’t want you to suffer,” Amelia responds sorrowfully but with determination to help her friend.
After the aborted first attempt with Amelia’s help, Michelle expresses doubt about her decision to die. She displays an apparently renewed desire to live, and even a bit of humor in a conversation with Amelia.
However, apparently still despondent about her situation, she ends her life.
Testing and planning for the future
The program and especially the research articles about HD can serve as an important starting point for the HD community to discuss openly one of the most difficult of issues: suicide. As the program illustrates, for an HD person and his or her physician, assisted suicide involves questions of health but also of moral values.
As I pointed out in the article on Dear Prudence, gene-positive individuals can contribute immensely to the quest for treatments and a cure.
After testing, I became “Gene Veritas,” the truth in my genes. If you are an at-risk individual, you can discover your own truth – and plan for it accordingly.
I believe that in my personal case, I would have had more suicidal thoughts had I not been tested.
Obviously, a decision to test is a highly personal one. But, with the increased understanding of HD resulting from research, it’s time for our community to see it in a new light.
Feeling mortal
At the same time, I admit that I deeply fear the moment of onset. I realize – from reading the HSG study but also in consulting my heart – that the fear of becoming a “gimp” could potentially lead me to act like Michelle.
We all deny death on a daily basis. Without that denial, we couldn’t function as individuals and as a civilization.
After my mother’s diagnosis, I was forced to confront the idea of a horrible, early death. I have learned to become especially skillful in my use of denial.
But how will I perceive my life when the inevitable onset begins? I dread that moment.
Watching Private Practice and writing about it have once again left me feeling painfully insecure – and mortal.
Subscribe to:
Posts (Atom)