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.
Monday, November 21, 2011
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.
Monday, October 31, 2011
Huntington’s disease in the news and entertainment media – Part I: Stigma and genetic testing
Despite its status as an orphan disease unknown to many, Huntington’s disease occasionally comes into focus in the mainstream news media and the entertainment industry.
HD’s biggest exposure came March 18, 2007, when the Sunday edition of The New York Times featured a long page-one story on 23-year-old Katie Moser, who had tested positive for this devastating, deadly brain disorder and was confronting her fate.
On September 15, 2011, HD entered the discussion again in a Dear Prudence column titled “Deadly Family Secret.” Emily Yoffe, the author of the advice column for the online newsmagazine Slate, responded to a young mother who had just learned that her newborn baby boy was at risk for HD. (Click here to read more.)
The writer, who signed her letter to Prudence “So Devastated,” recounted how, a week after the birth, she learned that her mother-in-law had HD. Thus the young mother’s untested husband has a 50-50 chance of inheriting the disease, and, if he indeed has the abnormal gene, the baby would face the same risk.
That letter once again highlighted how stigma, denial, and ignorance plague the HD community (click here to read more).
Some sound advice
Yoffe provided some excellent commentary and advice, though, as noted below, I found other aspects quite frustrating.
As an HD-positive person, support group member, and 2011 Person of the Year of the Huntington’s Disease Society of America (HDSA), I completely agree with Yoffe that the mother-in-law should have informed her son about his at-risk status, especially given the fact that her own mother had died of HD.
The young mother and her husband are now racing to educate themselves about the disease and its consequences – an anxiety-ridden situation they could have avoided, or at least planned for, had his mother revealed the family history of HD in a timely manner. They could have arranged for PGD, or preimplantation genetic diagnosis, to assure that their baby would be born without HD.
From my own extended family’s experience with HD and my observation of many others in my 13 years as an HD advocate, I believe that full disclosure is always the best policy.
Yoffe recommended that the couple tap into the resources provided by HDSA and its network of support groups and Centers of Excellence for Family Services and Research. She also advised that they consult a genetic counselor to discuss genetic testing for the husband, adding that the wife should inform an at-risk, pregnant cousin about her aunt’s diagnosis. With that knowledge, the cousin can test the fetus for HD.
A deliberate decision
Also, I was deeply relieved to read Yoffe’s advice to the young father that “there is no rush about making that choice” about his own genetic testing.
My own experience with testing supports this approach.
After learning of my mother’s diagnosis the day after Christmas 1995, I wanted to get tested immediately. But after speaking with my mother’s geneticist and becoming involved in the HDSA-San Diego support group, I learned that I should not rush into testing. Testing presented enormous risks involving job security, insurability, and my psychological health. Ultimately, I waited until 1999, when my wife became pregnant, to learn my fate. In 2000 our daughter tested negative for HD in the womb.
The omission of research
However, I disagree with other aspects of Yoffe’s response.
She omitted, or perhaps didn’t know, that a man often passes on a worse form of HD, sometimes causing a gene-positive child to develop juvenile Huntington’s disease. Thus the mother’s failure to inform “So Devastated” and her husband presents potentially even more devastating implications for their new family.
While Yoffe properly described HD as a “particularly cruel” condition, she failed to mention the huge strides made in research to combat the disease. That research provides immense hope for people such as “So Devastated” and her extended family (click here to read more).
A skewed view of testing
As a result of this omission, Yoffe presented a skewed view of genetic testing.
In referencing HDSA guidelines, she wrote that “there is almost never a reason to test a young person for the disease, which tends to strike in middle age.”
Despite the highly appropriate caution about not rushing into testing, genetic testing does play an increasingly important part in the solution to Huntington’s disease. Simply put, scientists, physicians, and drug companies need at-risk, gene-positive, and affected HD people to participate in research studies and clinical trials in order to understand the disease more fully and to test the safety and efficacy of potential drugs. (Click here to read more.)
Testing for HD directly benefits the effort to find treatments to make HD manageable like diabetes or perhaps even to bring about a cure.
By getting tested, at-risk people provide hope – for themselves and for the tens of thousands of people around the world affected by HD.
Treatments ‘on the horizon’
Although many people in the HD community, as well as journalists, still have not perceived this message, it has now existed in the public domain for a number of years.
A prominent example came in September 2005, when Dr. Martha Nance, the director of the HDSA Center of Excellence at the Hennepin County Medical Center in Minneapolis, responded to my own deep fears about HD by demonstrating in a Washington Post article that “treatments for neurodegeneration [brain diseases] are on the horizon.”
Similarly, as I have illustrated with my own experience, at-risk and gene-positive HD people have given testimony regarding the importance of research studies and clinical trials.
Testing no longer just a personal matter
Yoffe’s Dear Prudence column on HD effectively personalized how a “deadly family secret” can devastate successive generations. It reminds us of the urgent need to end the stigma associated with HD (and, by extension, with other neurological diseases).
Rightly so, Yoffe points out the great importance of sharing the truth about a genetic test with other family members and taking advantage of the information and services provided by HDSA.
However, I believe that HD and genetic testing are no longer just personal matters to be interpreted and confronted alone. They involve and impact the entire HD community – including the mutually beneficial, inextricable ties between the researchers and the patients (and potential patients like me and that letter-writer’s husband and son).
To defeat HD, we can never forget the big picture of our quest.
(In Part II, I will reflect on a recent episode about HD and suicide on the TV show Private Practice.)
HD’s biggest exposure came March 18, 2007, when the Sunday edition of The New York Times featured a long page-one story on 23-year-old Katie Moser, who had tested positive for this devastating, deadly brain disorder and was confronting her fate.
On September 15, 2011, HD entered the discussion again in a Dear Prudence column titled “Deadly Family Secret.” Emily Yoffe, the author of the advice column for the online newsmagazine Slate, responded to a young mother who had just learned that her newborn baby boy was at risk for HD. (Click here to read more.)
The writer, who signed her letter to Prudence “So Devastated,” recounted how, a week after the birth, she learned that her mother-in-law had HD. Thus the young mother’s untested husband has a 50-50 chance of inheriting the disease, and, if he indeed has the abnormal gene, the baby would face the same risk.
That letter once again highlighted how stigma, denial, and ignorance plague the HD community (click here to read more).
Some sound advice
Yoffe provided some excellent commentary and advice, though, as noted below, I found other aspects quite frustrating.
As an HD-positive person, support group member, and 2011 Person of the Year of the Huntington’s Disease Society of America (HDSA), I completely agree with Yoffe that the mother-in-law should have informed her son about his at-risk status, especially given the fact that her own mother had died of HD.
The young mother and her husband are now racing to educate themselves about the disease and its consequences – an anxiety-ridden situation they could have avoided, or at least planned for, had his mother revealed the family history of HD in a timely manner. They could have arranged for PGD, or preimplantation genetic diagnosis, to assure that their baby would be born without HD.
From my own extended family’s experience with HD and my observation of many others in my 13 years as an HD advocate, I believe that full disclosure is always the best policy.
Yoffe recommended that the couple tap into the resources provided by HDSA and its network of support groups and Centers of Excellence for Family Services and Research. She also advised that they consult a genetic counselor to discuss genetic testing for the husband, adding that the wife should inform an at-risk, pregnant cousin about her aunt’s diagnosis. With that knowledge, the cousin can test the fetus for HD.
A deliberate decision
Also, I was deeply relieved to read Yoffe’s advice to the young father that “there is no rush about making that choice” about his own genetic testing.
My own experience with testing supports this approach.
After learning of my mother’s diagnosis the day after Christmas 1995, I wanted to get tested immediately. But after speaking with my mother’s geneticist and becoming involved in the HDSA-San Diego support group, I learned that I should not rush into testing. Testing presented enormous risks involving job security, insurability, and my psychological health. Ultimately, I waited until 1999, when my wife became pregnant, to learn my fate. In 2000 our daughter tested negative for HD in the womb.
The omission of research
However, I disagree with other aspects of Yoffe’s response.
She omitted, or perhaps didn’t know, that a man often passes on a worse form of HD, sometimes causing a gene-positive child to develop juvenile Huntington’s disease. Thus the mother’s failure to inform “So Devastated” and her husband presents potentially even more devastating implications for their new family.
While Yoffe properly described HD as a “particularly cruel” condition, she failed to mention the huge strides made in research to combat the disease. That research provides immense hope for people such as “So Devastated” and her extended family (click here to read more).
A skewed view of testing
As a result of this omission, Yoffe presented a skewed view of genetic testing.
In referencing HDSA guidelines, she wrote that “there is almost never a reason to test a young person for the disease, which tends to strike in middle age.”
Despite the highly appropriate caution about not rushing into testing, genetic testing does play an increasingly important part in the solution to Huntington’s disease. Simply put, scientists, physicians, and drug companies need at-risk, gene-positive, and affected HD people to participate in research studies and clinical trials in order to understand the disease more fully and to test the safety and efficacy of potential drugs. (Click here to read more.)
Testing for HD directly benefits the effort to find treatments to make HD manageable like diabetes or perhaps even to bring about a cure.
By getting tested, at-risk people provide hope – for themselves and for the tens of thousands of people around the world affected by HD.
Treatments ‘on the horizon’
Although many people in the HD community, as well as journalists, still have not perceived this message, it has now existed in the public domain for a number of years.
A prominent example came in September 2005, when Dr. Martha Nance, the director of the HDSA Center of Excellence at the Hennepin County Medical Center in Minneapolis, responded to my own deep fears about HD by demonstrating in a Washington Post article that “treatments for neurodegeneration [brain diseases] are on the horizon.”
Similarly, as I have illustrated with my own experience, at-risk and gene-positive HD people have given testimony regarding the importance of research studies and clinical trials.
Testing no longer just a personal matter
Yoffe’s Dear Prudence column on HD effectively personalized how a “deadly family secret” can devastate successive generations. It reminds us of the urgent need to end the stigma associated with HD (and, by extension, with other neurological diseases).
Rightly so, Yoffe points out the great importance of sharing the truth about a genetic test with other family members and taking advantage of the information and services provided by HDSA.
However, I believe that HD and genetic testing are no longer just personal matters to be interpreted and confronted alone. They involve and impact the entire HD community – including the mutually beneficial, inextricable ties between the researchers and the patients (and potential patients like me and that letter-writer’s husband and son).
To defeat HD, we can never forget the big picture of our quest.
(In Part II, I will reflect on a recent episode about HD and suicide on the TV show Private Practice.)
Friday, October 21, 2011
Huntington’s disease and the financial jitters
As I’ve written before, living with the deadly gene for Huntington’s disease is like a high-wire act. Fearful that HD’s terrible symptoms could start any time, I walk the tightrope while juggling job, family, HD advocacy and, along with my wife, our finances.
As I have described in a number of articles since beginning this blog in January 2005, HD is a killer of dreams. Although the threat of HD has caused me to grow in many ways and to enjoy life more fully, it has also led us to abandon many plans, including having a second child after we went through the trauma of testing our first baby in the womb. (She tested negative and today is a healthy eleven-year-old.)
If it weren’t for the specter of HD, which took my mother’s life in 2006, I could have advanced much further in my career. My wife and I could focus on saving for retirement rather than building up an “HD war chest” to compensate for the deep losses in income expected after the onset of symptoms forces me to stop working in the near future.
I’m almost 52, the age at which my mom already had symptoms.
Turning the crisis to our favor
The fear of HD has caused us to fret about our finances. We agonize over big purchases, and even bigger decisions such as refinancing our home turn into weeks- and even months-long discussions.
Our fears increased greatly in the recession that began in late 2007 and got much worse in 2008.
Like many Americans, we were reeling from the stock market crash, which eroded our savings. We were stunned at both the enormity of the crisis and the massive stimulus program, financed with borrowing from foreign sources.
But, hopeful about a recovery, we sought to turn the short-term crisis to our long-term advantage.
In 2009, during the early months of the administration of President Barack Obama, we took advantage of extremely low interest rates to refinance the mortgage, taking out extra money to build a swimming pool and carry out other home improvements. (I jokingly referred to the project as the “Obama stimulus pool.”) The risk was well worth it: the huge savings from the lower interest rate made the pool affordable, and I took up swimming again to bolster my brain against HD onset.
Economic pain
In a state with a real unemployment rate of more than 20 percent, we were thankful to have jobs.
However, we started to feel the economic pain not long after we took our first swim in the pool. For the first time in nearly two decades as a university professor, I received no raise during the 2009-2010 academic year. The next year my wife, a teacher in the San Diego school district, took a 3.7 percent pay cut that remains in effect. Like many others facing pay freezes and cuts, we’re also paying more for benefits.
To compensate for the lost pay, the school district cut five days off the school year and cut hundreds of millions of dollars from its budget. Now, with California sinking ever deeper into crisis and forcing additional school cuts of tens of millions of dollars, the San Diego district leadership may cancel even more classes. Last week, the superintendent declared that the district might need to declare itself insolvent. Teachers will likely face further salary cuts.
As we feared yet another drop in family income, my wife and I also worried about the quality of education our daughter is receiving in the public schools. We quickly became frustrated with the middle school that she entered in September. Class sizes are large (36 per class), and the school does not offer placement tests to ensure that all students have access to the proper level of instruction. It offers only a few honors sections.
Frustrated and convinced that the school crisis will last for many years, my wife and I decided that our daughter will apply to private schools.
Extending beyond our reach?
Annual tuition and other expenses at these schools could cost as much as $30,000. To afford it, we would need to forfeit all saving for retirement – the biggest portion of our HD war chest. Because we put pre-tax dollars into retirement, every dollar we stopped saving would be taxed at about a third. That would make the real cost of the most expensive private school closer to $40,000.
That was getting well beyond our reach, especially when we also need to save for our daughter’s college expenses.
Once again, we decided to refinance our mortgage in order to borrow enough money to pay for about half the cost of six years of private school (grades 7 through 12).
Because we refinanced for the pool, this time we must max out on the mortgage: we will be borrowing about 75 percent of the value of the home. We bought the house in 1999 and saw its value more than double during the real estate boom of the early to mid-2000s. Even in today’s depressed market, it’s still worth about two thirds more than the original price, thus allowing us to take out substantial cash upon refinancing.
In addition, interest rates have dropped to near historic lows. We’ll have a rate below 4 percent – a bargain when compared to forfeiting saving for retirement and the HD war chest.
Risk exposure
Nevertheless, unlike the pool project, this round of refinancing has left me with the jitters. Taking out such a big loan, with a mortgage payment of hundreds of dollars more per month, conjures up memories of how little disposable income we had after our first property purchase in 1994. That was before we learned that my mom had HD.
The future of our economy seems even more uncertain than it did in 2009.
And I worry about exposing the family to too much financial risk precisely as I progress towards the probable onset of HD.
In fact, as I write this article, it seems like sheer lunacy!
How will we pay for private school and a bigger mortgage, save for our daughter’s college and our retirement, build the HD war chest, and run the household if I must go on state long-term disability, which would pay, at most, only 65 percent of my salary (this income, at least, would be tax-free) and run out after age 65? I might be able to supplement disability with Social Security and Medicare benefits, but, as I wrote earlier this year, HD people struggle to obtain, and are sometimes even denied, those benefits.
Helping while I can
It’s a huge gamble – but one that we feel we must take.
It only makes sense when I remember that we are providing for one of the best investments in our daughter’s future: an excellent education.
Born HD-negative, she was our “miracle baby.”
But she is no longer that baby. She stands on the verge of adolescence – and is now only five years away from filling out her college applications.
She is HD-free, but could still feel the disease's impact because of the stark possibility that I could become disabled and therefore less able to support her during her high school and college years
I desperately await news of the key research breakthrough that will save me from the dementia and other devastating symptoms of HD. I want to see my daughter graduate from college and build a life of her own.
If HD prevents me from enjoying those moments, I will at least have done my part to help her get there while I could still help.
As I have described in a number of articles since beginning this blog in January 2005, HD is a killer of dreams. Although the threat of HD has caused me to grow in many ways and to enjoy life more fully, it has also led us to abandon many plans, including having a second child after we went through the trauma of testing our first baby in the womb. (She tested negative and today is a healthy eleven-year-old.)
If it weren’t for the specter of HD, which took my mother’s life in 2006, I could have advanced much further in my career. My wife and I could focus on saving for retirement rather than building up an “HD war chest” to compensate for the deep losses in income expected after the onset of symptoms forces me to stop working in the near future.
I’m almost 52, the age at which my mom already had symptoms.
Turning the crisis to our favor
The fear of HD has caused us to fret about our finances. We agonize over big purchases, and even bigger decisions such as refinancing our home turn into weeks- and even months-long discussions.
Our fears increased greatly in the recession that began in late 2007 and got much worse in 2008.
Like many Americans, we were reeling from the stock market crash, which eroded our savings. We were stunned at both the enormity of the crisis and the massive stimulus program, financed with borrowing from foreign sources.
But, hopeful about a recovery, we sought to turn the short-term crisis to our long-term advantage.
In 2009, during the early months of the administration of President Barack Obama, we took advantage of extremely low interest rates to refinance the mortgage, taking out extra money to build a swimming pool and carry out other home improvements. (I jokingly referred to the project as the “Obama stimulus pool.”) The risk was well worth it: the huge savings from the lower interest rate made the pool affordable, and I took up swimming again to bolster my brain against HD onset.
Economic pain
In a state with a real unemployment rate of more than 20 percent, we were thankful to have jobs.
However, we started to feel the economic pain not long after we took our first swim in the pool. For the first time in nearly two decades as a university professor, I received no raise during the 2009-2010 academic year. The next year my wife, a teacher in the San Diego school district, took a 3.7 percent pay cut that remains in effect. Like many others facing pay freezes and cuts, we’re also paying more for benefits.
To compensate for the lost pay, the school district cut five days off the school year and cut hundreds of millions of dollars from its budget. Now, with California sinking ever deeper into crisis and forcing additional school cuts of tens of millions of dollars, the San Diego district leadership may cancel even more classes. Last week, the superintendent declared that the district might need to declare itself insolvent. Teachers will likely face further salary cuts.
As we feared yet another drop in family income, my wife and I also worried about the quality of education our daughter is receiving in the public schools. We quickly became frustrated with the middle school that she entered in September. Class sizes are large (36 per class), and the school does not offer placement tests to ensure that all students have access to the proper level of instruction. It offers only a few honors sections.
Frustrated and convinced that the school crisis will last for many years, my wife and I decided that our daughter will apply to private schools.
Extending beyond our reach?
Annual tuition and other expenses at these schools could cost as much as $30,000. To afford it, we would need to forfeit all saving for retirement – the biggest portion of our HD war chest. Because we put pre-tax dollars into retirement, every dollar we stopped saving would be taxed at about a third. That would make the real cost of the most expensive private school closer to $40,000.
That was getting well beyond our reach, especially when we also need to save for our daughter’s college expenses.
Once again, we decided to refinance our mortgage in order to borrow enough money to pay for about half the cost of six years of private school (grades 7 through 12).
Because we refinanced for the pool, this time we must max out on the mortgage: we will be borrowing about 75 percent of the value of the home. We bought the house in 1999 and saw its value more than double during the real estate boom of the early to mid-2000s. Even in today’s depressed market, it’s still worth about two thirds more than the original price, thus allowing us to take out substantial cash upon refinancing.
In addition, interest rates have dropped to near historic lows. We’ll have a rate below 4 percent – a bargain when compared to forfeiting saving for retirement and the HD war chest.
Risk exposure
Nevertheless, unlike the pool project, this round of refinancing has left me with the jitters. Taking out such a big loan, with a mortgage payment of hundreds of dollars more per month, conjures up memories of how little disposable income we had after our first property purchase in 1994. That was before we learned that my mom had HD.
The future of our economy seems even more uncertain than it did in 2009.
And I worry about exposing the family to too much financial risk precisely as I progress towards the probable onset of HD.
In fact, as I write this article, it seems like sheer lunacy!
How will we pay for private school and a bigger mortgage, save for our daughter’s college and our retirement, build the HD war chest, and run the household if I must go on state long-term disability, which would pay, at most, only 65 percent of my salary (this income, at least, would be tax-free) and run out after age 65? I might be able to supplement disability with Social Security and Medicare benefits, but, as I wrote earlier this year, HD people struggle to obtain, and are sometimes even denied, those benefits.
Helping while I can
It’s a huge gamble – but one that we feel we must take.
It only makes sense when I remember that we are providing for one of the best investments in our daughter’s future: an excellent education.
Born HD-negative, she was our “miracle baby.”
But she is no longer that baby. She stands on the verge of adolescence – and is now only five years away from filling out her college applications.
She is HD-free, but could still feel the disease's impact because of the stark possibility that I could become disabled and therefore less able to support her during her high school and college years
I desperately await news of the key research breakthrough that will save me from the dementia and other devastating symptoms of HD. I want to see my daughter graduate from college and build a life of her own.
If HD prevents me from enjoying those moments, I will at least have done my part to help her get there while I could still help.
Monday, October 10, 2011
BDNF and ‘Neurobics’: building a ‘beautiful mind’ against Huntington’s
To avoid the onset of Huntington’s disease, whose killer gene I inherited from my mother, I must do all I can to protect my brain.
In 2001, two years after testing positive for HD, I was inspired by the film A Beautiful Mind to try to think my way to cerebral health. In that film, starring Russell Crowe and Ed Harris (two of my favorite actors), the true-life figure of Nobel Prize-winning mathematician John Nash used his intelligence to distinguish the hallucinations of his schizophrenia from reality and to regain a normal life.
In effect, Nash tricked his symptoms.
I didn’t believe that I could trick HD. Like schizophrenia, HD is a brain disorder, but with far more devastating symptoms – and without a treatment for its root causes. Schizophrenia can be controlled with medication. HD cannot. And, whereas the causes of schizophrenia are thought to be a combination of genetic and environmental factors, HD is completely genetic, with 100 percent of gene-positive individuals eventually becoming symptomatic.
Tricking a gene like that seemed impossible.
Working the brain to exhaustion
But I did believe that keeping an active mind, thinking positively, and working for a cure for HD might allow me to delay onset.
My job as a college professor already provided wonderful stimulation for my brain. I read, wrote, traveled, and lectured regularly. Contact with the young, vibrant students kept me feeling young myself.
As a member of the board of directors of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego), I took on the hugely stimulating, and time-consuming, task of writing, editing, and producing the organization’s tri-annual newsletter. Using skills gained in my former work as a journalist and my current career as a historian, I delved into the harsh reality of HD as well as the growing body of scientific research towards treatments and a cure.
I ran the newsletter until 2007. During that time, I watched my mother rapidly decline and ultimately die of HD in early 2006, and I rode the emotional roller-coaster of wondering and waiting about the onset of my own symptoms.
I had purposely over-stimulated my brain – many times to the point of exhaustion.
A self-fertilizing garden
In the mid-2000s, I began reading about a new discovery about HD and the brain that provided me with another tool to build my “beautiful mind” against onset: I could increase the amount of a crucial substance for brain health known as BDNF (brain derived neurotrophic factor) by exercising.
A nutrient, BDNF acts like fertilizer for the brain. It is produced in the cortex, the convoluted, outer hemispheres of the brain, and transported into the striatum, the inner, lower level of the brain. Thus, in the words of researchers, our brains function like “a self-fertilizing garden.”
The striatum happens to be the area of the brain most affected in Huntington’s disease. Starting in the early 2000s, scientists working with HD mouse models observed that BDNF levels fell dramatically in the striatum. The lower the amount of BDNF in the mouse brains, the earlier and more severe was their HD onset.
“The promising new findings about BDNF can be exploited even today,” wrote Dr. Marsha Miller on the Huntington’s Disease Lighthouse Family website in 2006 (click here to read more). “There are easy, cheap, reasonably safe ways for people to increase BDNF levels in the brain. Exercise, maintaining a reasonably low weight, and enjoying a stimulating, but not overly stressful, social and mental life all raise BDNF levels. Other BDNF enhancers include the antidepressants known as selective serotonin-reuptake inhibitors (SSRIs), such as sertraline, and a few other drugs.”
This was excellent news for all gene-positive and symptomatic HD people. We could actually increase BDNF in our brains and therefore perhaps delay the onset of the disease or slow down the progression of symptoms!
A hot topic
BDNF was a hot topic at the 2011 Sixth Annual HD Therapeutics Conference from February 7-10, 2011, in Palm Springs, California. In addition to keynoting this meeting, I reported on the scientific presentations. The event was sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” a multi-million-dollar program backed by anonymous donors.
In his presentation on brain receptors that link up with BDNF, Dr. Moses Chao of the New York University School of Medicine observed that research shows that the lack of the substance helps cause the neuropsychiatric symptoms of HD (such as depression).
BDNF, he observed, contributes to a number of important activities in the brain, including the development of the cytoskeleton (the skeleton of the cell) and the ability of the synapses to adjust their strength. BDNF also helps cells survive.
As Dr. Chao pointed out, scientists first thought it might be possible to inject BDNF directly into the brain to help patients. However, in their experiments they encountered difficulties in delivering the BDNF, and it proved to be very “sticky,” meaning that it did not move easily in the brain. There were also negative side effects.
More recently, Dr. Chao explained, scientists have sought ways to bypass these problems. That research has focused on the BDNF receptors, molecules in the brain that link to BDNF so that it can carry out its tasks. Scientists are also examining substances that can bind to the receptors and act as a substitute for BDNF.
There may be other ways to raise the amount of BDNF. Dr. Allan Tobin of CHDI, for instance, has conducted a workshop to investigate the use of molecules that could mimic the effect of exercise on the brain and therefore increase BDNF levels.
For further details on the importance of BDNF and the research efforts towards BDNF-based HD treatments, watch the short video below by Dr. Jody Corey-Bloom of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego.
For additional background on BDNF, visit the Huntington’s Disease Lighthouse Family. Also see the report on the CHDI meeting at HDBuzz.
For the latest in HD stem-cell research and BDNF, watch the video below by Dr. Jan Nolta, Professor in the Department of Cell Biology and Human Anatomy and Director of the Stem-Cell Program at the University of California, Davis.
Thinking about exercise
To increase my own BDNF, I exercise regularly.
In 2009, when my wife and I decided to build a pool in our back yard, I installed a Fastlane swimming device that creates a powerful current against which I swim. Weather and time permitting, I try to swim 30 minutes three to five times per week.
I try to vary my exercise routine at least a bit. A few years ago, I went through a cycling phase. At times I also have used an elliptical machine for cross-training of the arms and legs.
Now I alternate swimming with 30- to 40-minute walks with my dog Lenny, a three-year-old male cockapoo full of love and energy.
I read once that, in order for exercise to provide maximum benefit for the body, the individual must think about the exercise while he or she is performing it.
So, for example, I don’t listen to music when walking. And I stopped using the elliptical while watching television.
While swimming in recent months, I have imagined BDNF bathing my brain. In my mind, as I stroke against the current, I sometimes chant a mantra: B-D-N-F.
As I wrote in my blog notes the other day, for me BDNF signifies “beautifully derived neurotrophic factor.”
Breaking the routine
After my September 21, 2011, entry titled “Waiting for symptoms: How long can I hang on?”, Dr. Chao wrote me an e-mail encouraging me to work on increasing my BDNF levels “through increased exercise or any other kind of novel activity (travel, learning a new language, etc.).”
I asked Dr. Chao to comment on a recent study that had left me puzzled and worried after I read about it during the summer. Investigators at the National Institutes of Health found that a particular kind of transgenic HD mouse, living in a cage where it could use a running wheel, became symptomatic earlier, had more severe impairments, and suffered greater damage to the striatum because of exercise!
Dr. Moses Chao at the 2011 CHDI HD Therapeutics Conference (photo by Gene Veritas)
“The article on the detrimental effects of exercise was carried out with a transgenic HD animal model that has not been well studied,” Dr. Chao responded. “I suspect it develops some pathology early on that might interfere with exercise. One issue about exercise is it helps if there is novelty. Routine activity (‘running wheels’) can be brain-deadening.”
Dr. Chao’s comments drove home two points: I needed to vary my exercise and personal enrichment and to enjoy them fully. I must not view the avoidance of onset as an obligation or chore, but as life-affirming.
Neurobics: a way to increase BDNF
Dr. Chao followed up by mailing me a copy of a book by the late neuroscientist Lawrence C. Katz, Ph.D., and writer Manning Rubin titled Keep Your Brain Alive: 83 Neurobic Exercises to Help Prevent Memory Loss and Increase Mental Fitness.
“Neurobics” combines the words “neuron” and “aerobics.”
Many people are familiar with the standard recommendations for giving the brain a workout: crossword puzzles, logic puzzles, reading, memory exercises, and engaging with interesting people and “other kinds of challenging activities that exercise brain circuits in different ways,” write Katz and Rubin.
They recommend that people continue with such activities.
But they should also practice the very different kind of exercises involved in Neurobics. These simple mental exercises serve as cross-training for the brain.
“Neurobic exercises use the five senses in novel ways to enhance the brain’s natural drive to form associations between different types of information,” write Katz and Rubin. “Associations (putting a name together with a face, or a smell with a food, for example) are the building blocks of memory and how we learn. Deliberately creating new associative patterns is a central part of the Neurobic program.”
And they add a point of the utmost importance for for HD-positive and HD-affected individuals: it’s well-established that Neurobic exercises increase levels of BDNF!
“In short, with Neurobics you can grow your own brain food – without drugs or diet,” Katz and Rubin state. “The more active brain cells are, the more growth-stimulating molecules they produce and the better they respond.”
Trying the exercises
Katz and Rubin begin with the example of a simple but powerful stimulant to the brain: when you arrive home at the end of the day, rather than relying on your sense of sight, close your eyes and use your senses of touch, hearing, and smell to guide you into the house.
Another exercise, which I tried yesterday, is to brush your teeth with the opposite hand. For a right-handed individual like me, this stimulates the less-used right hemisphere of the brain.
When I walked Lenny the other day, I followed the book’s suggestion of taking a different route. I sensed it was more stimulating for him, too.
Lenny and I leaving on one of our frequent walks
“It’s rather astounding when you think about it,” Katz and Rubin observe. “A certain kind of sensory experience can permanently change the wiring in part of your brain!”
They conclude: “Neurobics uses an approach based on how the brain works, not simply on how to work the brain.”
Everybody in the HD community (and everybody else, for that matter) should read Keep Your Brain Alive. It provides a treasure trove of information about how our brains work and how to protect them from disease and aging.
Quality, not just quantity
When I first learned of HD because of my mother’s diagnosis in 1995, doctors and researchers told me there was virtually nothing an at-risk or gene-positive person could do. HD symptoms are inevitable.
Since then, scientists plumbing the depths of the brain and diseases such as HD have turned up evidence to the contrary.
I wrote in my notes the other day: “YES!!! There are things we can DO to help our brains stave off HD!”
Neurobics may not prevent me from becoming symptomatic, but it very possibly could delay onset and, when it occurs, reduce the devastation of my brain.
From my contact with Dr. Chao, I have learned that I must focus not only on the quantity of exercise, but its quality. I need to stop frantically overstimulating my brain and instead concentrate on exercise, Neurobics, and other activities that will increase my BNDF.
As Katz and Rubin point out, that includes maintaining a rewarding emotional life based on intimate connections to people.
Living neurobically
For my survival, nothing could be more important than exercise, cross-training my brain, and strengthening ties to family and friends.
Although the hope of treatments has increased dramatically, chances are that a treatment will not become available before my symptoms start.
Through HDSA and this blog, I’ve fought for the success of the HD movement. Soon the moment may come when I will need to focus just on me and my own brain, living my final days of mental clarity as neurobically as possible.
In 2001, two years after testing positive for HD, I was inspired by the film A Beautiful Mind to try to think my way to cerebral health. In that film, starring Russell Crowe and Ed Harris (two of my favorite actors), the true-life figure of Nobel Prize-winning mathematician John Nash used his intelligence to distinguish the hallucinations of his schizophrenia from reality and to regain a normal life.
In effect, Nash tricked his symptoms.
I didn’t believe that I could trick HD. Like schizophrenia, HD is a brain disorder, but with far more devastating symptoms – and without a treatment for its root causes. Schizophrenia can be controlled with medication. HD cannot. And, whereas the causes of schizophrenia are thought to be a combination of genetic and environmental factors, HD is completely genetic, with 100 percent of gene-positive individuals eventually becoming symptomatic.
Tricking a gene like that seemed impossible.
Working the brain to exhaustion
But I did believe that keeping an active mind, thinking positively, and working for a cure for HD might allow me to delay onset.
My job as a college professor already provided wonderful stimulation for my brain. I read, wrote, traveled, and lectured regularly. Contact with the young, vibrant students kept me feeling young myself.
As a member of the board of directors of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego), I took on the hugely stimulating, and time-consuming, task of writing, editing, and producing the organization’s tri-annual newsletter. Using skills gained in my former work as a journalist and my current career as a historian, I delved into the harsh reality of HD as well as the growing body of scientific research towards treatments and a cure.
I ran the newsletter until 2007. During that time, I watched my mother rapidly decline and ultimately die of HD in early 2006, and I rode the emotional roller-coaster of wondering and waiting about the onset of my own symptoms.
I had purposely over-stimulated my brain – many times to the point of exhaustion.
A self-fertilizing garden
In the mid-2000s, I began reading about a new discovery about HD and the brain that provided me with another tool to build my “beautiful mind” against onset: I could increase the amount of a crucial substance for brain health known as BDNF (brain derived neurotrophic factor) by exercising.
A nutrient, BDNF acts like fertilizer for the brain. It is produced in the cortex, the convoluted, outer hemispheres of the brain, and transported into the striatum, the inner, lower level of the brain. Thus, in the words of researchers, our brains function like “a self-fertilizing garden.”
The striatum happens to be the area of the brain most affected in Huntington’s disease. Starting in the early 2000s, scientists working with HD mouse models observed that BDNF levels fell dramatically in the striatum. The lower the amount of BDNF in the mouse brains, the earlier and more severe was their HD onset.
“The promising new findings about BDNF can be exploited even today,” wrote Dr. Marsha Miller on the Huntington’s Disease Lighthouse Family website in 2006 (click here to read more). “There are easy, cheap, reasonably safe ways for people to increase BDNF levels in the brain. Exercise, maintaining a reasonably low weight, and enjoying a stimulating, but not overly stressful, social and mental life all raise BDNF levels. Other BDNF enhancers include the antidepressants known as selective serotonin-reuptake inhibitors (SSRIs), such as sertraline, and a few other drugs.”
This was excellent news for all gene-positive and symptomatic HD people. We could actually increase BDNF in our brains and therefore perhaps delay the onset of the disease or slow down the progression of symptoms!
A hot topic
BDNF was a hot topic at the 2011 Sixth Annual HD Therapeutics Conference from February 7-10, 2011, in Palm Springs, California. In addition to keynoting this meeting, I reported on the scientific presentations. The event was sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” a multi-million-dollar program backed by anonymous donors.
In his presentation on brain receptors that link up with BDNF, Dr. Moses Chao of the New York University School of Medicine observed that research shows that the lack of the substance helps cause the neuropsychiatric symptoms of HD (such as depression).
BDNF, he observed, contributes to a number of important activities in the brain, including the development of the cytoskeleton (the skeleton of the cell) and the ability of the synapses to adjust their strength. BDNF also helps cells survive.
As Dr. Chao pointed out, scientists first thought it might be possible to inject BDNF directly into the brain to help patients. However, in their experiments they encountered difficulties in delivering the BDNF, and it proved to be very “sticky,” meaning that it did not move easily in the brain. There were also negative side effects.
More recently, Dr. Chao explained, scientists have sought ways to bypass these problems. That research has focused on the BDNF receptors, molecules in the brain that link to BDNF so that it can carry out its tasks. Scientists are also examining substances that can bind to the receptors and act as a substitute for BDNF.
There may be other ways to raise the amount of BDNF. Dr. Allan Tobin of CHDI, for instance, has conducted a workshop to investigate the use of molecules that could mimic the effect of exercise on the brain and therefore increase BDNF levels.
For further details on the importance of BDNF and the research efforts towards BDNF-based HD treatments, watch the short video below by Dr. Jody Corey-Bloom of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego.
For additional background on BDNF, visit the Huntington’s Disease Lighthouse Family. Also see the report on the CHDI meeting at HDBuzz.
For the latest in HD stem-cell research and BDNF, watch the video below by Dr. Jan Nolta, Professor in the Department of Cell Biology and Human Anatomy and Director of the Stem-Cell Program at the University of California, Davis.
Thinking about exercise
To increase my own BDNF, I exercise regularly.
In 2009, when my wife and I decided to build a pool in our back yard, I installed a Fastlane swimming device that creates a powerful current against which I swim. Weather and time permitting, I try to swim 30 minutes three to five times per week.
I try to vary my exercise routine at least a bit. A few years ago, I went through a cycling phase. At times I also have used an elliptical machine for cross-training of the arms and legs.
Now I alternate swimming with 30- to 40-minute walks with my dog Lenny, a three-year-old male cockapoo full of love and energy.
I read once that, in order for exercise to provide maximum benefit for the body, the individual must think about the exercise while he or she is performing it.
So, for example, I don’t listen to music when walking. And I stopped using the elliptical while watching television.
While swimming in recent months, I have imagined BDNF bathing my brain. In my mind, as I stroke against the current, I sometimes chant a mantra: B-D-N-F.
As I wrote in my blog notes the other day, for me BDNF signifies “beautifully derived neurotrophic factor.”
Breaking the routine
After my September 21, 2011, entry titled “Waiting for symptoms: How long can I hang on?”, Dr. Chao wrote me an e-mail encouraging me to work on increasing my BDNF levels “through increased exercise or any other kind of novel activity (travel, learning a new language, etc.).”
I asked Dr. Chao to comment on a recent study that had left me puzzled and worried after I read about it during the summer. Investigators at the National Institutes of Health found that a particular kind of transgenic HD mouse, living in a cage where it could use a running wheel, became symptomatic earlier, had more severe impairments, and suffered greater damage to the striatum because of exercise!
Dr. Moses Chao at the 2011 CHDI HD Therapeutics Conference (photo by Gene Veritas)“The article on the detrimental effects of exercise was carried out with a transgenic HD animal model that has not been well studied,” Dr. Chao responded. “I suspect it develops some pathology early on that might interfere with exercise. One issue about exercise is it helps if there is novelty. Routine activity (‘running wheels’) can be brain-deadening.”
Dr. Chao’s comments drove home two points: I needed to vary my exercise and personal enrichment and to enjoy them fully. I must not view the avoidance of onset as an obligation or chore, but as life-affirming.
Neurobics: a way to increase BDNF
Dr. Chao followed up by mailing me a copy of a book by the late neuroscientist Lawrence C. Katz, Ph.D., and writer Manning Rubin titled Keep Your Brain Alive: 83 Neurobic Exercises to Help Prevent Memory Loss and Increase Mental Fitness.
“Neurobics” combines the words “neuron” and “aerobics.”
Many people are familiar with the standard recommendations for giving the brain a workout: crossword puzzles, logic puzzles, reading, memory exercises, and engaging with interesting people and “other kinds of challenging activities that exercise brain circuits in different ways,” write Katz and Rubin.
They recommend that people continue with such activities.
But they should also practice the very different kind of exercises involved in Neurobics. These simple mental exercises serve as cross-training for the brain.
“Neurobic exercises use the five senses in novel ways to enhance the brain’s natural drive to form associations between different types of information,” write Katz and Rubin. “Associations (putting a name together with a face, or a smell with a food, for example) are the building blocks of memory and how we learn. Deliberately creating new associative patterns is a central part of the Neurobic program.”
And they add a point of the utmost importance for for HD-positive and HD-affected individuals: it’s well-established that Neurobic exercises increase levels of BDNF!
“In short, with Neurobics you can grow your own brain food – without drugs or diet,” Katz and Rubin state. “The more active brain cells are, the more growth-stimulating molecules they produce and the better they respond.”
Trying the exercises
Katz and Rubin begin with the example of a simple but powerful stimulant to the brain: when you arrive home at the end of the day, rather than relying on your sense of sight, close your eyes and use your senses of touch, hearing, and smell to guide you into the house.
Another exercise, which I tried yesterday, is to brush your teeth with the opposite hand. For a right-handed individual like me, this stimulates the less-used right hemisphere of the brain.
When I walked Lenny the other day, I followed the book’s suggestion of taking a different route. I sensed it was more stimulating for him, too.
Lenny and I leaving on one of our frequent walks“It’s rather astounding when you think about it,” Katz and Rubin observe. “A certain kind of sensory experience can permanently change the wiring in part of your brain!”
They conclude: “Neurobics uses an approach based on how the brain works, not simply on how to work the brain.”
Everybody in the HD community (and everybody else, for that matter) should read Keep Your Brain Alive. It provides a treasure trove of information about how our brains work and how to protect them from disease and aging.
Quality, not just quantity
When I first learned of HD because of my mother’s diagnosis in 1995, doctors and researchers told me there was virtually nothing an at-risk or gene-positive person could do. HD symptoms are inevitable.
Since then, scientists plumbing the depths of the brain and diseases such as HD have turned up evidence to the contrary.
I wrote in my notes the other day: “YES!!! There are things we can DO to help our brains stave off HD!”
Neurobics may not prevent me from becoming symptomatic, but it very possibly could delay onset and, when it occurs, reduce the devastation of my brain.
From my contact with Dr. Chao, I have learned that I must focus not only on the quantity of exercise, but its quality. I need to stop frantically overstimulating my brain and instead concentrate on exercise, Neurobics, and other activities that will increase my BNDF.
As Katz and Rubin point out, that includes maintaining a rewarding emotional life based on intimate connections to people.
Living neurobically
For my survival, nothing could be more important than exercise, cross-training my brain, and strengthening ties to family and friends.
Although the hope of treatments has increased dramatically, chances are that a treatment will not become available before my symptoms start.
Through HDSA and this blog, I’ve fought for the success of the HD movement. Soon the moment may come when I will need to focus just on me and my own brain, living my final days of mental clarity as neurobically as possible.
Monday, October 03, 2011
Making sense of Huntington’s organizations, and a call for unity
HDSA, HDF, HDDW, CHDI: a mini alphabet soup of Huntington’s disease organizations serves the families afflicted by this devastating brain disease, leaving at least some people confused about each entity’s purpose.
While these organizations often collaborate admirably in their common goal of treatments and a cure, they sometimes conflict, competing for attention and resources and/or disagreeing about the best approach to stopping HD.
Sometimes that conflict occurs within an organization, for example, between the grassroots and the leadership.
These patterns are only human, and they apply even to enterprises striving for the utmost in objectivity, including the doctors and scientists seeking to unravel the mysteries of HD.
My experience
I’ve observed and participated in conflicts ever since I formally joined the HD movement in April 1998. In the San Diego chapter, we tried our best to put the cause ahead of politics. In cases of conflict with the national office, we acted according to what we saw as the best interests of our local HD community.
Lately I’ve read complaints in HD Facebook discussion groups about, in the words of one veteran of the HD movement, an “obvious disconnect between the HD community and the HDSA at a national level as voiced in numerous posts online.”
I aim here not to judge or analyze any particular conflict, but, instead, to provide a brief outline of the specific goals of HDSA – the largest and best-established group – and the other HD organizations.
Gaining perspective
I want to help clear up the confusion of the alphabet soup – and suggest how the apparent "disconnect" might be repaired.
I believe that we act most effectively, and harmoniously, when equipped with accurate information and historical perspective. Providing perspective is part of my job as a professional historian. We cannot plan the future without understanding the past.
I’ve studied carefully and have had contact with all four organizations: as an HDSA chapter board member and 2011 HDSA Person of the Year; as a regular correspondent with one of the HDF board members and a student of its activities; as a participant in an HDDW observational trial and collaborator of the organization’s founder; and as the keynote speaker at the 2011 CHDI research conference.
I recognize the powerful influence of my own perspective on this article: as an HD-positive person whose mom died of the disease in 2006, I desperately await a treatment that will save me from losing my mobility and my mind. I expect conflict and even welcome certain kinds of it; opposing ideas often meld into a better one.
But conflict should not lead us to splinter off into so many different directions that we dissipate our energies and lose momentum towards our ultimate goal. I believe that our community must stay focused on care and ultimately the cure. If not, the HD-affected and HD-positive are doomed.
HDSA
HDSA (the Huntington’s Disease Society of America) was founded in 1967 by Marjorie Guthrie, the widow of folk singer and political activist Woody Guthrie, the most famous American to die of HD.
The very first organization to support HD families, HDSA began as a series of support groups and remains the only organization to offer such help. In the Guthrie tradition, HDSA advocated for HD families and, in the 1970s, helped push Congress to set up a commission to study how to eradicate HD.
After the discovery of the huntingtin gene in 1993 created the possibility of effectively treating HD, HDSA emphasized greater fundraising for scientific research. In 1997 it created the “Coalition for the Cure,” which funded HD research projects to the tune of millions of dollars. Scientists competed for grants based on their qualifications and peer review, that is, a careful examination of their proposals by other scientists. Between December of 2005 and January of 2005, HDSA’s “Generation 2000” program brought in $23 million for the Coalition (click here to read more).
Initially, some in the HD community became angry that HDSA had deemphasized its primary mission of supporting care for HD patients and their families. Partly in response to this, starting in the late 1990s HDSA created Centers of Excellence for Family Services and Research, which gave greater visibility and some additional funding to local HD clinics around the country, practically all of them associated with universities.
With the founding of the CHDI Foundation, Inc., in 2003 (see below), HDSA’s role in research diminished substantially. Although it continues to fund some important research, it focuses largely on chapter development, education, family services, fundraising, and advocacy.
HDSA, headquartered in New York City, has a number of development field officers and assistants in various regions of the country. But the organization’s lifeblood is the thousands of individuals active in some 40 chapters and affiliates and 21 Centers of Excellence: affected family members, support group members, volunteers, physicians, nurses, social workers, and others.
In late June, a record total – more than 1,000 people – took part in the 26th annual HDSA convention in Minneapolis, an indication of the organization’s grassroots strength.
At the same time, however, some in the community have criticized the national office in what they see as its inability, or unwillingness, to back local projects or provide assistance to financially strapped families.
Some have also questioned why such a small portion of the HDSA budget goes to research – just seven percent (about $370,000), according to the 2009-2010 annual report. That is a far cry from the early 2000s. Research is the smallest part of the budget, with 26 percent going to family services, 20 percent to fundraising, 20 percent to chapter development, 17 percent to education, and ten percent to “management and general.”
As illustrated below, the CHDI Foundation now provides more research dollars in one year than HDSA did in a decade.
In an interview with me in May, HDSA CEO Louise Vetter acknowledged that the organization’s national board recognizes the need for local assistance but, with a current annual budget of only $8.5 million, lacks the wherewithal to help more than it currently does (click here to read more). She added that HDSA is striving to increase the budget to as much as $20 million. A bigger budget would allow HDSA to increase support for both research and local projects.
Louise Vetter (photo by Gene Veritas)
Despite these frictions, HDSA remains the “go-to” organization for HD families.
In conjunction with the Centers of Excellence, HDSA is the only organization that provides the large array of services essential to the HD community: clinical care, genetic counseling, genetic testing (with an established protocol), support groups, educational and other chapter events, chapter fundraisers, public and legislative advocacy, caregiver assistance, medical publications (including the important Physician’s Guide to the Management of Huntington’s Disease), and the administration of highly crucial clinical trials and observational studies.
(No HD organization provides nursing home care or any published guide on how to find a good facility. Families often must choose a facility for their loved ones on their own.)
HDF
Founded by psychoanalyst Milton Wexler, the HDF (Hereditary Disease Foundation) began in 1968 as the Los Angeles chapter of HDSA. In 1974, Wexler broke off from HDSA to formally start the HDF.
The HDF arose out of the very first major conflict in the HD movement. Wexler, the husband of an HD-affected woman and father of two at-risk daughters, started his own foundation because he believed private research funding, and not just the government support sought by Marjorie Guthrie, should play a part in the quest to find treatments. His and Marjorie’s strong personalities also clashed.
HDF established offices at the Wexler family base in Los Angeles and also in New York. As a scientific foundation, it had no chapters, support groups, or clinics. It had one goal: to promote research towards treatments and a cure. Towards that end, Milton Wexler held seminars with some of the leading scientists of the late twentieth century.
Like the HDSA, the HDF issues grants on a competitive basis. Its single focus allowed it to put a high level of funding in research. In 1990, for example, it spent almost $600,000 on research – nearly double the amount of HDSA.
The HDF spearheaded the search for the all-important gene that indicates HD. Wexler’s daughter Nancy, a Ph.D. in clinical psychology, spent years collecting thousands of blood samples from the world’s largest HD extended family in Venezuela.
This research led to the discovery, in 1983, of a genetic marker for the HD gene, thus permitting the development of indirect genetic tests indicating a person’s probability of carrying the defective huntingtin gene. In 1993 the actual location of the gene was discovered, leading to a 100-percent accurate genetic test. (Click here to read more about Nancy Wexler.)
To a large degree, Nancy Wexler and the HDF’s work laid the basis for a revolution in HD research over the past two decades. In the 1990s and early 2000s, HDF began efforts to discover specific treatments.
Nancy Wexler (left), the late Milton Wexler, and Alice Wexler (photo by Mariana Cook)
Toward that end, in 1997 the HDF foundation received a “substantial anonymous gift” to set up an internal program known as “The Cure Huntington’s Disease Initiative” (CHDI). (This first CHDI should not be confused with the current CHDI Foundation.) According to the HDF summer 2002 newsletter, “the CHDI approaches HD as a problem in practical drug discovery.” It supported research projects for “studying potential new drugs, developing screening methods for quickly assessing the effectiveness of new drugs, and studying the mechanism of disease and potential drug targets” (click here to read more).
In 2003, with CHDI picking up steam, the HDF put more than $20 million into research (click here to read more).
But, like HDSA, the HDF has seen better times in terms of its finances. According to the winter 2010 HDF newsletter, the foundation last year awarded $800,000 in grants and contracts (click here to read more) – less, in real terms, than its 1990 amount. Again, the presence of the CHDI Foundation, discussed below, partly explains this decline.
Despite their initial differences and later frictions, HDSA and HDF maintained a reasonable working relationship.
Today HDF remains on the cutting edge of HD research, attracting great attention from the scientific world at its biennial meetings.
Nancy’s older sister Alice chronicled the early story of the HDF and her family’s struggle against the disease in the acclaimed 1995 book Mapping Fate, from which I have drawn some of the information for this vignette of the HDF. In 2008, she published another important book, The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, which helps to explain why HD carries such a terrible stigma.
Everybody in the HD movement should read Alice Wexler's books.
HDDW
HDDW (Huntington’s Disease Drug Works) started in 2003 under the leadership of Dr. LaVonne Goodman, a physician to HD families and the president of the HDSA Northwest chapter, and her husband Dr. Nathan Goodman, one of the participants in the historic Genome Project. HDDW is based in Seattle. It has no chapters, support groups, or family services.
While HDSA and HDF sought a long-term solution to HD, the Goodmans instituted a “treatment now” program using safe supplements and medications approved by the federal Food and Drug Administration for other conditions and shown to be effective in HD mice.
For several years, Dr. Goodman monitored a small group of HD patients, but without conclusive results.
Dr. LaVonne Goodman (photo by Gene Veritas)
I have taken the supplements for about six years and, although there is no scientific proof that they have helped me, I remain free of the classic symptoms of HD (click here to read more about my strategies for avoiding HD).
Because Dr. Goodman questioned the conventional wisdom of HDSA and many scientists and doctors, she stirred controversy. She even had to resign as a chapter president.
Several years later, however, Dr. Goodman resumed her collaboration with HDSA and has been a featured speaker at the national convention. She chairs the Northwest chapter’s efforts in family services and education. She has also collaborated with CHDI and the Huntington’s Study Group (HSG), an international coalition of physicians and researchers conducting HD research.
The mother of two at-risk children from a previous marriage, Dr. Goodman today attends to several dozen HD patients in the Northwest.
She now focuses on preparing the community for clinical trials, absolutely essential for testing potential drugs for safety and efficacy. On July 30, she co-organized the Inaugural Clinical Research Symposium in Seattle with support from the Northwest chapter and the pharmaceutical firm Lundbeck.
Dr. Goodman is also working to establish HD “standard of care guidelines” to supplement HDSA’s Physician’s Guide by taking into account care strategies utilized by HD experts around the world. According to Dr. Goodman, the new guidelines “can improve the quality of care delivered by busy doctors who have limited HD experience and need time-efficient guides” (click here to read more).
CHDI
The CHDI Foundation, Inc., grew out of the HDF’s CHDI program. It is backed by the same anonymous donors.
In the HD community, the CHDI Foundation is probably the least known of the organizations, despite its enormous impact since arriving on the scene in 2003.
Like the HDF, the CHDI Foundation focuses on one goal: finding treatments and a cure for HD. It has offices in three cities, but no support groups, chapters, or family services. The foundation’s goals are implemented by CHDI Management, Inc., presided over by Robi Blumenstein, an attorney who built a successful career in merchant banking.
In addition to the HDF, the anonymous donors had previously provided support to the HDSA. In each of the past several years the CHDI Foundation has donated $1.2 million to HDSA.
The donors, however, wanted to try a different research approach from those of HDSA and the HDF and decided to start a new organization.
With the establishment of the foundation and its management firm, the acronym “CHDI” no longer had any official meaning, although in this blog I have continually referred to its original meaning, the “cure Huntington’s disease initiative.”
In the simplest of terms, CHDI Management is a virtual biotech company. I have visited all three of its offices: the administrative headquarters in Manhattan (which also has two researchers) and the research offices in Princeton, NJ, and Los Angeles. CHDI Management has no labs – not even a microscope.
Its impressive staff of “drug hunters” – many of them recruited from the highly competitive pharmaceutical industry – conceive, fund, and manage specific research projects carried out in labs at pharmaceutical companies and universities. In all, CHDI Management scientists work with more than 600 researchers.
CHDI Management scientists travel frequently to consult with the scientists implementing the projects. For several years, I have tracked one of these projects at Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA. With a revolutionary approach, Isis and CHDI Management aim to attack HD at its genetic cause. (Click here to read more.)
At the Princeton office, the scientists are helping design effective clinical trials and ways to measure the effectiveness of the proposed drugs.
Like HDSA and HDF, CHDI Management holds regular conferences. Although some might disagree, I described the CHDI Management meeting as the “Super Bowl” of HD research because of its international reach and intense focus on practical steps towards a victory in the fight against HD.
Scientists at the 2011 CHDI Foundation's research conference (photo by Gene Veritas)
CHDI Management’s annual budget varies according to the needs of the researchers and the projects. In the current year, it plans to spend approximately $100 million. In the fight against HD, it is the largest private initiative ever.
CHDI Management raised HD’s profile in the world of science and put drug discovery into overdrive. Pharmaceutical giants such as Pfizer began to pay greater attention to HD. Whereas no specific treatment strategy existed after the discovery of the gene in 1993, the HD research community has now identified an astounding 700-plus potential targets (ideas for drugs) to attack HD. Much of that progress has resulted from CHDI Management’s massive commitment.
Crucially, CHDI Management has the resources to transform the most promising of those targets into actual drugs and help guide them into clinical trials.
A potentially positive division of labor
About a year ago a scientist starting work on an HD project hinted to me that the lack of a single disease organization might hamper efforts to discover and implement treatments. Why, he seemed to ask, couldn’t our community get its act together?
I understood his point. Drug companies likely would find it easier to deal with one organization. It would also create a perception of unity, as opposed to one of squabbling.
But there is also a positive side to having multiple organizations: the competition of ideas and strategies. Thanks to the current schema, the organizations are less likely to become complacent in their search for treatments and a cure. Unlike the volunteers in the field, disease organization employees earn a living from that quest, and they are more likely to feel passion for their work in an environment of freely flowing ideas, constructive criticism, and healthy competition.
The unique history and focus of each organization also benefit the HD community by creating a sort of division of labor. CHDI and HDF (and also the HSG) do the heavy lifting on research, while HDSA raises awareness and provides the grassroots infrastructure for patient care and clinical trials. HDDW plays a constructively critical, supportive role in the entire process.
Also, sometimes the institutions overlap one another, especially when it comes to research. Many of the scientists receive funding from two or more organizations and attend their respective conferences. What counts most for scientists is not the origin of their funding, but the fact that the money allows them to conduct the research necessary for finding treatments and a cure.
A call for unity
As someone who began my journey with HD at an HDSA support group and worked many years in the trenches as an anonymous volunteer, I sympathize with those at the grassroots who express frustration about HDSA and/or about the other organizations.
However, as someone who has held important leadership positions in my profession, I also understand the challenges of administration.
I believe strongly that several things must happen in the HD community.
With leadership comes great responsibility. The leaders of the HD organizations should always be open to dialogue with the grassroots. They should display a willingness to learn from and even adopt the innovations of the grassroots.
People at the grassroots have a great responsibility, too. They should remember that these organizations must respond to needs expressed from around the country and even from overseas, as CHDI expands the scope of its efforts in the quest for treatments and a cure. Grassroots activists need to resist the very human temptation to adopt an “us versus them” attitude with respect to the leadership, while, however, also maintaining a constructively critical approach and making their voices heard.
Collaboration, negotiation, debate, dialogue, and the search for common points of interest are hard, but I believe that in the end they can bring us more quickly to a victory against HD.
But dialogue needs to be informed.
The members of the HD community should continually strive to learn about the disease organizations. At the same time, each one of us needs to constantly evaluate his or her part in the fight against HD.
In the end, from the presidents to the family stressed out by HD to the volunteers, we all need to remember: Together we can beat this disease!
(Note: This article was originally posted on October 3, 2011, and updated on October 4, 2011, to correct several factual errors.)
While these organizations often collaborate admirably in their common goal of treatments and a cure, they sometimes conflict, competing for attention and resources and/or disagreeing about the best approach to stopping HD.
Sometimes that conflict occurs within an organization, for example, between the grassroots and the leadership.
These patterns are only human, and they apply even to enterprises striving for the utmost in objectivity, including the doctors and scientists seeking to unravel the mysteries of HD.
My experience
I’ve observed and participated in conflicts ever since I formally joined the HD movement in April 1998. In the San Diego chapter, we tried our best to put the cause ahead of politics. In cases of conflict with the national office, we acted according to what we saw as the best interests of our local HD community.
Lately I’ve read complaints in HD Facebook discussion groups about, in the words of one veteran of the HD movement, an “obvious disconnect between the HD community and the HDSA at a national level as voiced in numerous posts online.”
I aim here not to judge or analyze any particular conflict, but, instead, to provide a brief outline of the specific goals of HDSA – the largest and best-established group – and the other HD organizations.
Gaining perspective
I want to help clear up the confusion of the alphabet soup – and suggest how the apparent "disconnect" might be repaired.
I believe that we act most effectively, and harmoniously, when equipped with accurate information and historical perspective. Providing perspective is part of my job as a professional historian. We cannot plan the future without understanding the past.
I’ve studied carefully and have had contact with all four organizations: as an HDSA chapter board member and 2011 HDSA Person of the Year; as a regular correspondent with one of the HDF board members and a student of its activities; as a participant in an HDDW observational trial and collaborator of the organization’s founder; and as the keynote speaker at the 2011 CHDI research conference.
I recognize the powerful influence of my own perspective on this article: as an HD-positive person whose mom died of the disease in 2006, I desperately await a treatment that will save me from losing my mobility and my mind. I expect conflict and even welcome certain kinds of it; opposing ideas often meld into a better one.
But conflict should not lead us to splinter off into so many different directions that we dissipate our energies and lose momentum towards our ultimate goal. I believe that our community must stay focused on care and ultimately the cure. If not, the HD-affected and HD-positive are doomed.
HDSA
HDSA (the Huntington’s Disease Society of America) was founded in 1967 by Marjorie Guthrie, the widow of folk singer and political activist Woody Guthrie, the most famous American to die of HD.
The very first organization to support HD families, HDSA began as a series of support groups and remains the only organization to offer such help. In the Guthrie tradition, HDSA advocated for HD families and, in the 1970s, helped push Congress to set up a commission to study how to eradicate HD.
After the discovery of the huntingtin gene in 1993 created the possibility of effectively treating HD, HDSA emphasized greater fundraising for scientific research. In 1997 it created the “Coalition for the Cure,” which funded HD research projects to the tune of millions of dollars. Scientists competed for grants based on their qualifications and peer review, that is, a careful examination of their proposals by other scientists. Between December of 2005 and January of 2005, HDSA’s “Generation 2000” program brought in $23 million for the Coalition (click here to read more).
Initially, some in the HD community became angry that HDSA had deemphasized its primary mission of supporting care for HD patients and their families. Partly in response to this, starting in the late 1990s HDSA created Centers of Excellence for Family Services and Research, which gave greater visibility and some additional funding to local HD clinics around the country, practically all of them associated with universities.
With the founding of the CHDI Foundation, Inc., in 2003 (see below), HDSA’s role in research diminished substantially. Although it continues to fund some important research, it focuses largely on chapter development, education, family services, fundraising, and advocacy.
HDSA, headquartered in New York City, has a number of development field officers and assistants in various regions of the country. But the organization’s lifeblood is the thousands of individuals active in some 40 chapters and affiliates and 21 Centers of Excellence: affected family members, support group members, volunteers, physicians, nurses, social workers, and others.
In late June, a record total – more than 1,000 people – took part in the 26th annual HDSA convention in Minneapolis, an indication of the organization’s grassroots strength.
At the same time, however, some in the community have criticized the national office in what they see as its inability, or unwillingness, to back local projects or provide assistance to financially strapped families.
Some have also questioned why such a small portion of the HDSA budget goes to research – just seven percent (about $370,000), according to the 2009-2010 annual report. That is a far cry from the early 2000s. Research is the smallest part of the budget, with 26 percent going to family services, 20 percent to fundraising, 20 percent to chapter development, 17 percent to education, and ten percent to “management and general.”
As illustrated below, the CHDI Foundation now provides more research dollars in one year than HDSA did in a decade.
In an interview with me in May, HDSA CEO Louise Vetter acknowledged that the organization’s national board recognizes the need for local assistance but, with a current annual budget of only $8.5 million, lacks the wherewithal to help more than it currently does (click here to read more). She added that HDSA is striving to increase the budget to as much as $20 million. A bigger budget would allow HDSA to increase support for both research and local projects.
Louise Vetter (photo by Gene Veritas)Despite these frictions, HDSA remains the “go-to” organization for HD families.
In conjunction with the Centers of Excellence, HDSA is the only organization that provides the large array of services essential to the HD community: clinical care, genetic counseling, genetic testing (with an established protocol), support groups, educational and other chapter events, chapter fundraisers, public and legislative advocacy, caregiver assistance, medical publications (including the important Physician’s Guide to the Management of Huntington’s Disease), and the administration of highly crucial clinical trials and observational studies.
(No HD organization provides nursing home care or any published guide on how to find a good facility. Families often must choose a facility for their loved ones on their own.)
HDF
Founded by psychoanalyst Milton Wexler, the HDF (Hereditary Disease Foundation) began in 1968 as the Los Angeles chapter of HDSA. In 1974, Wexler broke off from HDSA to formally start the HDF.
The HDF arose out of the very first major conflict in the HD movement. Wexler, the husband of an HD-affected woman and father of two at-risk daughters, started his own foundation because he believed private research funding, and not just the government support sought by Marjorie Guthrie, should play a part in the quest to find treatments. His and Marjorie’s strong personalities also clashed.
HDF established offices at the Wexler family base in Los Angeles and also in New York. As a scientific foundation, it had no chapters, support groups, or clinics. It had one goal: to promote research towards treatments and a cure. Towards that end, Milton Wexler held seminars with some of the leading scientists of the late twentieth century.
Like the HDSA, the HDF issues grants on a competitive basis. Its single focus allowed it to put a high level of funding in research. In 1990, for example, it spent almost $600,000 on research – nearly double the amount of HDSA.
The HDF spearheaded the search for the all-important gene that indicates HD. Wexler’s daughter Nancy, a Ph.D. in clinical psychology, spent years collecting thousands of blood samples from the world’s largest HD extended family in Venezuela.
This research led to the discovery, in 1983, of a genetic marker for the HD gene, thus permitting the development of indirect genetic tests indicating a person’s probability of carrying the defective huntingtin gene. In 1993 the actual location of the gene was discovered, leading to a 100-percent accurate genetic test. (Click here to read more about Nancy Wexler.)
To a large degree, Nancy Wexler and the HDF’s work laid the basis for a revolution in HD research over the past two decades. In the 1990s and early 2000s, HDF began efforts to discover specific treatments.
Nancy Wexler (left), the late Milton Wexler, and Alice Wexler (photo by Mariana Cook)Toward that end, in 1997 the HDF foundation received a “substantial anonymous gift” to set up an internal program known as “The Cure Huntington’s Disease Initiative” (CHDI). (This first CHDI should not be confused with the current CHDI Foundation.) According to the HDF summer 2002 newsletter, “the CHDI approaches HD as a problem in practical drug discovery.” It supported research projects for “studying potential new drugs, developing screening methods for quickly assessing the effectiveness of new drugs, and studying the mechanism of disease and potential drug targets” (click here to read more).
In 2003, with CHDI picking up steam, the HDF put more than $20 million into research (click here to read more).
But, like HDSA, the HDF has seen better times in terms of its finances. According to the winter 2010 HDF newsletter, the foundation last year awarded $800,000 in grants and contracts (click here to read more) – less, in real terms, than its 1990 amount. Again, the presence of the CHDI Foundation, discussed below, partly explains this decline.
Despite their initial differences and later frictions, HDSA and HDF maintained a reasonable working relationship.
Today HDF remains on the cutting edge of HD research, attracting great attention from the scientific world at its biennial meetings.
Nancy’s older sister Alice chronicled the early story of the HDF and her family’s struggle against the disease in the acclaimed 1995 book Mapping Fate, from which I have drawn some of the information for this vignette of the HDF. In 2008, she published another important book, The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, which helps to explain why HD carries such a terrible stigma.
Everybody in the HD movement should read Alice Wexler's books.
HDDW
HDDW (Huntington’s Disease Drug Works) started in 2003 under the leadership of Dr. LaVonne Goodman, a physician to HD families and the president of the HDSA Northwest chapter, and her husband Dr. Nathan Goodman, one of the participants in the historic Genome Project. HDDW is based in Seattle. It has no chapters, support groups, or family services.
While HDSA and HDF sought a long-term solution to HD, the Goodmans instituted a “treatment now” program using safe supplements and medications approved by the federal Food and Drug Administration for other conditions and shown to be effective in HD mice.
For several years, Dr. Goodman monitored a small group of HD patients, but without conclusive results.
Dr. LaVonne Goodman (photo by Gene Veritas)I have taken the supplements for about six years and, although there is no scientific proof that they have helped me, I remain free of the classic symptoms of HD (click here to read more about my strategies for avoiding HD).
Because Dr. Goodman questioned the conventional wisdom of HDSA and many scientists and doctors, she stirred controversy. She even had to resign as a chapter president.
Several years later, however, Dr. Goodman resumed her collaboration with HDSA and has been a featured speaker at the national convention. She chairs the Northwest chapter’s efforts in family services and education. She has also collaborated with CHDI and the Huntington’s Study Group (HSG), an international coalition of physicians and researchers conducting HD research.
The mother of two at-risk children from a previous marriage, Dr. Goodman today attends to several dozen HD patients in the Northwest.
She now focuses on preparing the community for clinical trials, absolutely essential for testing potential drugs for safety and efficacy. On July 30, she co-organized the Inaugural Clinical Research Symposium in Seattle with support from the Northwest chapter and the pharmaceutical firm Lundbeck.
Dr. Goodman is also working to establish HD “standard of care guidelines” to supplement HDSA’s Physician’s Guide by taking into account care strategies utilized by HD experts around the world. According to Dr. Goodman, the new guidelines “can improve the quality of care delivered by busy doctors who have limited HD experience and need time-efficient guides” (click here to read more).
CHDI
The CHDI Foundation, Inc., grew out of the HDF’s CHDI program. It is backed by the same anonymous donors.
In the HD community, the CHDI Foundation is probably the least known of the organizations, despite its enormous impact since arriving on the scene in 2003.
Like the HDF, the CHDI Foundation focuses on one goal: finding treatments and a cure for HD. It has offices in three cities, but no support groups, chapters, or family services. The foundation’s goals are implemented by CHDI Management, Inc., presided over by Robi Blumenstein, an attorney who built a successful career in merchant banking.
In addition to the HDF, the anonymous donors had previously provided support to the HDSA. In each of the past several years the CHDI Foundation has donated $1.2 million to HDSA.
The donors, however, wanted to try a different research approach from those of HDSA and the HDF and decided to start a new organization.
With the establishment of the foundation and its management firm, the acronym “CHDI” no longer had any official meaning, although in this blog I have continually referred to its original meaning, the “cure Huntington’s disease initiative.”
In the simplest of terms, CHDI Management is a virtual biotech company. I have visited all three of its offices: the administrative headquarters in Manhattan (which also has two researchers) and the research offices in Princeton, NJ, and Los Angeles. CHDI Management has no labs – not even a microscope.
Its impressive staff of “drug hunters” – many of them recruited from the highly competitive pharmaceutical industry – conceive, fund, and manage specific research projects carried out in labs at pharmaceutical companies and universities. In all, CHDI Management scientists work with more than 600 researchers.
CHDI Management scientists travel frequently to consult with the scientists implementing the projects. For several years, I have tracked one of these projects at Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA. With a revolutionary approach, Isis and CHDI Management aim to attack HD at its genetic cause. (Click here to read more.)
At the Princeton office, the scientists are helping design effective clinical trials and ways to measure the effectiveness of the proposed drugs.
Like HDSA and HDF, CHDI Management holds regular conferences. Although some might disagree, I described the CHDI Management meeting as the “Super Bowl” of HD research because of its international reach and intense focus on practical steps towards a victory in the fight against HD.
Scientists at the 2011 CHDI Foundation's research conference (photo by Gene Veritas)CHDI Management’s annual budget varies according to the needs of the researchers and the projects. In the current year, it plans to spend approximately $100 million. In the fight against HD, it is the largest private initiative ever.
CHDI Management raised HD’s profile in the world of science and put drug discovery into overdrive. Pharmaceutical giants such as Pfizer began to pay greater attention to HD. Whereas no specific treatment strategy existed after the discovery of the gene in 1993, the HD research community has now identified an astounding 700-plus potential targets (ideas for drugs) to attack HD. Much of that progress has resulted from CHDI Management’s massive commitment.
Crucially, CHDI Management has the resources to transform the most promising of those targets into actual drugs and help guide them into clinical trials.
A potentially positive division of labor
About a year ago a scientist starting work on an HD project hinted to me that the lack of a single disease organization might hamper efforts to discover and implement treatments. Why, he seemed to ask, couldn’t our community get its act together?
I understood his point. Drug companies likely would find it easier to deal with one organization. It would also create a perception of unity, as opposed to one of squabbling.
But there is also a positive side to having multiple organizations: the competition of ideas and strategies. Thanks to the current schema, the organizations are less likely to become complacent in their search for treatments and a cure. Unlike the volunteers in the field, disease organization employees earn a living from that quest, and they are more likely to feel passion for their work in an environment of freely flowing ideas, constructive criticism, and healthy competition.
The unique history and focus of each organization also benefit the HD community by creating a sort of division of labor. CHDI and HDF (and also the HSG) do the heavy lifting on research, while HDSA raises awareness and provides the grassroots infrastructure for patient care and clinical trials. HDDW plays a constructively critical, supportive role in the entire process.
Also, sometimes the institutions overlap one another, especially when it comes to research. Many of the scientists receive funding from two or more organizations and attend their respective conferences. What counts most for scientists is not the origin of their funding, but the fact that the money allows them to conduct the research necessary for finding treatments and a cure.
A call for unity
As someone who began my journey with HD at an HDSA support group and worked many years in the trenches as an anonymous volunteer, I sympathize with those at the grassroots who express frustration about HDSA and/or about the other organizations.
However, as someone who has held important leadership positions in my profession, I also understand the challenges of administration.
I believe strongly that several things must happen in the HD community.
With leadership comes great responsibility. The leaders of the HD organizations should always be open to dialogue with the grassroots. They should display a willingness to learn from and even adopt the innovations of the grassroots.
People at the grassroots have a great responsibility, too. They should remember that these organizations must respond to needs expressed from around the country and even from overseas, as CHDI expands the scope of its efforts in the quest for treatments and a cure. Grassroots activists need to resist the very human temptation to adopt an “us versus them” attitude with respect to the leadership, while, however, also maintaining a constructively critical approach and making their voices heard.
Collaboration, negotiation, debate, dialogue, and the search for common points of interest are hard, but I believe that in the end they can bring us more quickly to a victory against HD.
But dialogue needs to be informed.
The members of the HD community should continually strive to learn about the disease organizations. At the same time, each one of us needs to constantly evaluate his or her part in the fight against HD.
In the end, from the presidents to the family stressed out by HD to the volunteers, we all need to remember: Together we can beat this disease!
(Note: This article was originally posted on October 3, 2011, and updated on October 4, 2011, to correct several factual errors.)
Wednesday, September 21, 2011
Waiting for symptoms: How long can I hang on?
As someone who is gene-positive for Huntington’s disease, I live in an uncharted gray zone as I await the onset of the same kind of devastating symptoms that took my mother’s life in 2006.
My gray zone had a precise beginning: on June 7, 1999, I received the results of my genetic test, which showed that I had inherited the abnormal HD gene from my mother.
However, I don’t know the point where the gray zone ends and a much darker fate awaits. Although the onset of this 100% genetic condition is inevitable, its exact timing and manner are not precisely predictable.
So I play the terrible “waiting game,” wondering and worrying about onset and the impact it will have on my job, my family, and my health.
Increasingly, I ask myself the question: “How long can I hang on?”
So far, no classic symptoms
My mother’s initial, psychiatric symptoms, such as emotional upset, probably started in her late forties. By the age of 55, and most likely earlier, she had chorea, the shaking and trembling movements typical of this brain disorder, in her case first evident in her legs while lying in bed at night, then affecting her hands and head. Ultimately, HD destroyed her ability to walk, talk, and think.
At the end of this year I will turn 52. All of the research on HD suggests that by now, based on the averages, I should be having symptoms.
Scientists have demonstrated that “premanifest” HD people like me suffer harmful changes in the brain ten or even more years before the start of the classic, easily observable symptoms. HD is likely attacking my brain cells already, perhaps causing subtle changes in my sense of smell or eyesight.
However, as of my last HD checkup in December 2010, I displayed none of the classic effects. As far as I can tell, I continue to live like any “normal,” healthy person.
Strategies for health
Over the years, I’ve been asked the question of how I have avoided onset. I’ve referred to a number of strategies in this past posts (for example, click here).
In brief, I exercise at least 30 minutes per day, eat a proper diet, cultivate my mind through my work as a college professor and activist for the Huntington’s Disease Society of America, consult a psychotherapist, and take medications that combat depression and anxiety and protect my brain.
I take the basic supplements – though their efficacy is still under study – recommended by the Huntington’s Disease Drug Works program: creatine, coenzyme Q-10, trehalose (a sugar), blueberry extract pills, and omega-3 fish oil pills.
I also keep in touch with a network of friends and supporters and dedicate myself to my wife and 11-year-old, HD-free daughter. I strive to deal with stress positively, and to deepen my spirituality.
Writing for this blog provides an outlet for my deepest fears and connects me to my brothers and sisters in the HD community.
A lucky man
I can’t prove that any of these strategies has actually prevented onset. It’s possible that other factors such as an undiscovered modifier gene (a gene influencing the time and manner of onset) might also be keeping me symptom-free.
But I know that none of my strategies is causing harm. For example, I undergo periodic blood tests to verify that the large amount of creatine I ingest is not harming my liver or kidneys.
A lot of what I do (or don’t do, such as heavy drinking) belongs to many healthy people’s recipe for a happy and stable life.
Whatever the reason for my delayed onset, I consider myself EXTREMELY LUCKY.
That feeling is particularly acute when I’m reminded of people my age or even younger who already have full-blown symptoms.
A ‘mild’ case?
I’ve received several messages of encouragement from readers of this blog, basically along the following lines.
You won’t get HD until you’re in your sixties.
You’ll only get a mild case of HD.
You’ll have the disease, but be able to function almost normally.
You’ll live with the disease until you’re 80 (unlike my mother, who died at 68).
I often think of my HD friend Julie, in her sixties, who’s lived with HD symptoms for a number of years but can still write eloquently and speak to me on the phone.
“You need to be like Julie,” my wife tells me with hope and conviction.
But I also know that HD could attack forcefully, turning me into a mere shadow of myself and leaving me completely dependent on my wife, daughter, and others for the most basic of necessities.
As my wife pointed out not long ago, a man’s fifties seem to carry the greatest risks for his health. (My father, for instance, suffered a heart attack at the age of 54.) I feel that if I can get to sixty with few or no symptoms, I might indeed get only a mild case of HD. And, by then, treatments should be available.
A precious gift
Each moment without HD symptoms is a precious gift.
A gift that allows me to help coach my daughter’s soccer team.
A gift that lets me to enjoy a movie or a good book.
A gift that allows me to invite my wife out to dinner and afterwards take her on a relaxing drive.
A gift that gives me the time to prepare for the future and be thankful for all that I have.
And then I worry: what will the doctor say in a couple months after my next HD annual checkup?
I am hanging on. For how long, I don’t know. But while I am, I intend to make every moment count.
That’s when I recognize another facet of the gift: the opportunity to help other HD families in need and join with them and researchers in the search for treatments and a cure.
(For the latest on HD research in the wake of the 2011 World Congress on Huntington’s disease, please visit www.HDBuzz.net.)
My gray zone had a precise beginning: on June 7, 1999, I received the results of my genetic test, which showed that I had inherited the abnormal HD gene from my mother.
However, I don’t know the point where the gray zone ends and a much darker fate awaits. Although the onset of this 100% genetic condition is inevitable, its exact timing and manner are not precisely predictable.
So I play the terrible “waiting game,” wondering and worrying about onset and the impact it will have on my job, my family, and my health.
Increasingly, I ask myself the question: “How long can I hang on?”
So far, no classic symptoms
My mother’s initial, psychiatric symptoms, such as emotional upset, probably started in her late forties. By the age of 55, and most likely earlier, she had chorea, the shaking and trembling movements typical of this brain disorder, in her case first evident in her legs while lying in bed at night, then affecting her hands and head. Ultimately, HD destroyed her ability to walk, talk, and think.
At the end of this year I will turn 52. All of the research on HD suggests that by now, based on the averages, I should be having symptoms.
Scientists have demonstrated that “premanifest” HD people like me suffer harmful changes in the brain ten or even more years before the start of the classic, easily observable symptoms. HD is likely attacking my brain cells already, perhaps causing subtle changes in my sense of smell or eyesight.
However, as of my last HD checkup in December 2010, I displayed none of the classic effects. As far as I can tell, I continue to live like any “normal,” healthy person.
Strategies for health
Over the years, I’ve been asked the question of how I have avoided onset. I’ve referred to a number of strategies in this past posts (for example, click here).
In brief, I exercise at least 30 minutes per day, eat a proper diet, cultivate my mind through my work as a college professor and activist for the Huntington’s Disease Society of America, consult a psychotherapist, and take medications that combat depression and anxiety and protect my brain.
I take the basic supplements – though their efficacy is still under study – recommended by the Huntington’s Disease Drug Works program: creatine, coenzyme Q-10, trehalose (a sugar), blueberry extract pills, and omega-3 fish oil pills.
I also keep in touch with a network of friends and supporters and dedicate myself to my wife and 11-year-old, HD-free daughter. I strive to deal with stress positively, and to deepen my spirituality.
Writing for this blog provides an outlet for my deepest fears and connects me to my brothers and sisters in the HD community.
A lucky man
I can’t prove that any of these strategies has actually prevented onset. It’s possible that other factors such as an undiscovered modifier gene (a gene influencing the time and manner of onset) might also be keeping me symptom-free.
But I know that none of my strategies is causing harm. For example, I undergo periodic blood tests to verify that the large amount of creatine I ingest is not harming my liver or kidneys.
A lot of what I do (or don’t do, such as heavy drinking) belongs to many healthy people’s recipe for a happy and stable life.
Whatever the reason for my delayed onset, I consider myself EXTREMELY LUCKY.
That feeling is particularly acute when I’m reminded of people my age or even younger who already have full-blown symptoms.
A ‘mild’ case?
I’ve received several messages of encouragement from readers of this blog, basically along the following lines.
You won’t get HD until you’re in your sixties.
You’ll only get a mild case of HD.
You’ll have the disease, but be able to function almost normally.
You’ll live with the disease until you’re 80 (unlike my mother, who died at 68).
I often think of my HD friend Julie, in her sixties, who’s lived with HD symptoms for a number of years but can still write eloquently and speak to me on the phone.
“You need to be like Julie,” my wife tells me with hope and conviction.
But I also know that HD could attack forcefully, turning me into a mere shadow of myself and leaving me completely dependent on my wife, daughter, and others for the most basic of necessities.
As my wife pointed out not long ago, a man’s fifties seem to carry the greatest risks for his health. (My father, for instance, suffered a heart attack at the age of 54.) I feel that if I can get to sixty with few or no symptoms, I might indeed get only a mild case of HD. And, by then, treatments should be available.
A precious gift
Each moment without HD symptoms is a precious gift.
A gift that allows me to help coach my daughter’s soccer team.
A gift that lets me to enjoy a movie or a good book.
A gift that allows me to invite my wife out to dinner and afterwards take her on a relaxing drive.
A gift that gives me the time to prepare for the future and be thankful for all that I have.
And then I worry: what will the doctor say in a couple months after my next HD annual checkup?
I am hanging on. For how long, I don’t know. But while I am, I intend to make every moment count.
That’s when I recognize another facet of the gift: the opportunity to help other HD families in need and join with them and researchers in the search for treatments and a cure.
(For the latest on HD research in the wake of the 2011 World Congress on Huntington’s disease, please visit www.HDBuzz.net.)
Friday, September 02, 2011
One Man's Story: Entering the Light
(At the invitation of the Huntington’s Disease Society of America [HDSA], I wrote this article for the September 2011 issue of the HDSA support group newsletter We Are HDSA!)
By Gene Veritas, author of At Risk for Huntington’s Disease and recipient of the 2011 HDSA Person of the Year award
As a severely disabling and fatal brain disorder, Huntington’s disease carries a deep stigma that often leads individuals and even entire families to hide the truth about their situation.
In learning of my mother’s diagnosis of HD on the day after Christmas of 1995, I wanted to get tested immediately. However, my mother’s geneticist and the president of the local HDSA chapter warned me against rushing into a test. They pointed out that gene-positive individuals sometimes faced discrimination from employers and insurance companies. So I postponed testing, and I kept my at-risk status private.
I thus entered the “HD closet,” a terrible and lonely place where I struggled with the wrenching fears of HD as I watched my mother decline.
In June 1999, I tested positive for HD. That life-jolting event caused me to retreat even deeper into the closet.
I lived in the grips of a massive contradiction: activism for HDSA and the need to shield myself from discrimination.
Enthusiastically, but anonymously, I served on the board of the San Diego Chapter of HDSA from April 1998 to October 2010.
In 2005 I started the blog At Risk for Huntington’s Disease. To protect my identity, I adopted the pseudonym “Gene Veritas,” the “truth in my genes.” Since then I have written regularly about the many challenges of HD – including the deeply frustrating experience of the HD closet.
But I knew that, if I wanted to truly defeat stigma, I someday would have to exit the closet.
Thanks to a combination of factors, in 2010 I began giving public speeches about my situation, using my real name.
Now in my fifties, I feel I have sufficient gravitas to negotiate the inevitable complications, including discrimination. Crucially, two pieces of federal legislation have given me and other gene-positive people support: the Genetic Information Nondiscrimination Act (GINA) of 2008, which bars certain kinds of discrimination, and the 2010 health-care reform law (the Patient Protection and Affordable Care Act), which, in 2014, will prohibit denial of coverage to people with pre-existing conditions.
Most importantly, HD researchers are making great progress, giving me the confidence that an eventual treatment or cure would end the HD closet forever.
From the scientists, I have begun learning that the closet poses a huge obstacle to their work. Without the active participation of our community in clinical trials and other experiments, the researchers cannot test potential treatments for safety and efficacy.
In my new role as a public advocate and as the 2011 "HDSA Person of the Year," I urge everybody in our community to get involved, summoning up the courage we know we possess to exit the terrible and lonely HD closet.
You can make a difference in many ways: by attending the local HD support group, volunteering for your local chapter or affiliate, and joining in HDSA’s advocacy and fundraising efforts. I also sincerely believe that if you are at risk, you should seriously consider the possibility of genetic testing.
You can also contact your local HDSA chapter or Center of Excellence to learn more about observational and clinical trials.
Above all, as we exit the HD closet hand in hand, it’s time to tell a friend or relative about Huntington’s disease and how it affects your family’s life. Your personal testimony provides the most effective way to fight stigma, inspire others to join the cause, and build awareness about the need to defeat HD.
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