Thursday, April 17, 2014
By revisiting the huge, long-abandoned New Jersey mental hospital where radical songwriter and performer Woody Guthrie struggled for five years with the symptoms of Huntington’s disease, photographer and author Phillip Buehler provides us with a valuable new perspective on the crisis in care for people disabled by neurological disorders.
In Woody Guthrie’s Wardy Forty: Greystone Park State Hospital Revisited (Woody Guthrie Publications, Inc., 2013, 162 pages), Buehler, a specialist on derelict buildings, captures the rooms, corridors, and grounds of the psychiatric facility that housed Guthrie between 1956 and 1961. It had over 6,000 patients and had some 2,000 employees at its height in the 1960s.
A companion volume, Woody Guthrie’s Wardy Forty: The Interviews, provides background from those who knew Guthrie or are involved in the campaign against Huntington’s. (Click here to purchase the books.)
Woody Guthrie (above) and the new books about his time at Greystone Park State Hospital (below) (photos from www.woodyguthrie.org)
Utterly debilitated and unable to speak, Woodrow Wilson Guthrie, the composer of “This Land is Your Land,” died of Huntington’s at Creedmoor State Hospital in Queens, NY, in October 1967 at the age of 55.
Today the United States has an estimated 5.4 million Alzheimer’s disease patients, and an additional 14.9 million family members and friends cope with the disease as caregivers or in other ways. About one million people suffer from Parkinson’s disease.
Huntington’s disease (HD) patients number 30,000, with an additional 150,000-250,000 at risk. The government classified HD as an “orphan,” or rare, disease because of the relatively small number of people affected (fewer than 200,000). Numerous other disorders have similar symptoms. By mid-century, as many as 120 million people worldwide will suffer from dementia.
The world must shoulder a massive caregiving burden. Most people affected by such illnesses will require care ranging from in-home assistance to admission to a nursing home.
While researchers have made strides studying the symptoms, causes, and treatment of these conditions, caregiving has not advanced. Professional caregivers typically earn very low wages and receive little training. Even many doctors cannot properly diagnose rare disorders such as HD.
“Long term care remains a scandal in the United States,” Alice Wexler, Ph.D., a board member of the HD-related Hereditary Disease Foundation and author of two books on the disease, writes in a brief history of the disease included in Buehler’s book. “Persons living with HD and their loved ones – and all those with chronic neurodegenerative and psychiatric illnesses – still struggle mightily to find appropriate and affordable support and care, at home while they are still able, in facilities when they are not.”
In a case that shocked the HD community, in May 2013 a 49-year-old, late-stage HD patient was allegedly strangled in an Oregon nursing home by another patient whom police described as suffering from “severe dementia.”
To complicate matters further, the Genetic Information Nondiscrimination Act does not provide protection to people seeking life, disability, and long-term care insurance. Thus, as genetic testing, including full DNA sequencing, promises to become ubiquitous, people run the risk of not getting the coverage they will most need as they live ever longer lives. Only three states (California, Oregon, and Vermont) prohibit this type of discrimination.
Lives instantly transformed
My own family has struggled with Huntington’s disease since the late 1980s, when my mother Carol Serbin started having strange swings in mood. A few years later, she developed chorea, the involuntary movements most Huntington’s sufferers develop, causing some to appear as if they are dancing.
Nobody in the family understood what was wrong until in 1995 a neurologist suspected Huntington’s. Just two years before, researchers had concluded a two-decade quest to find the disease-causing gene, which they called “huntingtin,” like the disease named for the American physician George Huntington.
In 1872, Dr. Huntington published an article describing HD’s symptoms and definitively establishing it as a genetically transmitted condition. Everybody has this gene, which is essential for life, but when it expands beyond its normal size, it causes brain cells to die. The discovery of the gene allowed for a definitive test for the disease, though, unfortunately, science has yet to provide effective treatments, much less a cure.
Receiving the news of my mother’s diagnosis the day after Christmas 1995, my wife Regina and I saw our lives transformed before us in an instant. With no treatment or cure, HD was fatal. All children of an affected parent had a 50-50 of inheriting the condition. Most people experience disease onset between the ages of 30 and 50, and everybody with a certain degree of gene expansion or greater will develop the condition.
My mother’s diagnosis and the fear that I might carry the genetic expansion compelled me to fight back in any way I could. Regina and I immediately started attending the local support group of the Huntington’s Disease Society of America (HDSA), and I became an HDSA advocate.
I began writing about my experiences in this blog. Because of fear of genetic discrimination, until recently, I performed all of this behind the scenes, for example writing under a pseudonym, Gene Veritas.
The fear that I carried the mutation led Regina and me to postpone starting a family. By 1999, however, we agreed to try. First, I decided to get tested. I was especially worried about transmitting the mutation, because sometimes men pass on an even longer expansion, resulting in an early-onset form known as juvenile Huntington’s.
Our worst fears were confirmed: I had the same expansion as my mother and would likely develop the disease in my forties or fifties.
We then embarked on the most difficult decision of our lives: the testing of our daughter in the womb (so-called preimplantation genetic diagnosis was not yet available). After weeks of waiting for the results, we received the happiest news of our lives: our “miracle baby” was HD-free! Today Bianca is a thriving middle school student.
The genetic mirror
Throughout this period, I juggled my roles as college professor, father and husband, and Huntington’s disease advocate – all while watching my mother’s inexorable decline. In addition to her psychiatric symptoms and chorea, she suffered from the third manifestation of the HD triad: cognitive loss and dementia.
“Each encounter with my mom became a view into a nightmarish genetic mirror,” I wrote to a physician friend who included my story anonymously in a September 2005 Washington Post article on HD. “I watched her body jerk, head bob, and fingers fret. One night I found her wandering around our house confused and half naked. Within a year she lost most of her capacity to speak. She ate clumsily with her hands.”
Around that time, because my “HD warrior” and caregiver father Paul could no longer care for my mother at home, he placed her in a nursing home. She died quietly in her sleep in February 2006, at 68.
Finally seeing the beauty
Following Guthrie through the pages of Buehler’s books, I was prompted to reflect on my relationship with my mother as she struggled with HD as well as on how our system of caregiving must improve.
Disease communities are used to emphasizing the devastation of the their particular conditions. The devastation is real. But there is more to the person than the illness. I regret not having the emotional strength and presence of mind to have seen my mother more as a person and less as a mind and body racked by the symptoms of Huntingon’s. Because I had tested positive for the mutation, often “my fear of HD kept me from sitting down with her and attempting to converse,” I once wrote.
In the “Foreword” to The Interviews, Guthrie’s daughter Nora recalls her own hesitancy as a 15-year-old to reach out to her father and how she ultimately learned to appreciate the man who, despite HD, understood his daughter’s feelings, a man who possessed “twinkling eyes and a mischievous grin, releasing us all to live our own lives completely and wonderfully, taking each day and each situation as it comes.” Her father “lived with this disease, but he never became Huntington’s disease.”
“As I turn these pages, I can finally see a beauty that has taken me over fifty years to recognize,” Nora writes of Buehler’s photographs of the hospital where she, her mother Marjorie, and brothers Arlo and Joady visited Guthrie on the weekends and held picnics on the lawn, the children often playing in a large tree their father dubbed the “magicky tree.” “These images are merely ruins, the gross leftovers, the little pieces, chipped and peeling fragments of a life felt and lived so vividly and boldly.”
Discrimination and misdiagnosis
The Guthries’ story became my family’s story, too. I remembered how I had travelled from my home in San Diego to visit my mother in the nursing home in suburban Cleveland shortly before she died. She shared a room with a woman paralyzed from the neck down. The attendants tried to feed my mother but didn’t give her much more than a few spoonfuls before quitting. Always patient, my father had done a better job of feeding her when she was still at home. He would feed her once a day at the nursing home, too. Still, she was losing energy, slowly slipping towards death.
As the books recount, Guthrie faced the kind of discrimination still faced by HD people today: police officers and member of the general public often believe that HD people are drunk. In 1956, Guthrie was picked up by New Jersey state troopers, who thought he was a vagrant. Only after a phone call from a friend did the troopers comprehend that he needed medical attention.
At first, the medical personnel at Greystone refused to believe Guthrie’s claims to have written thousands of songs. Instead, they described him as “delusional” and diagnosed him as a paranoid schizophrenic. HD is frequently misdiagnosed, in part because many doctors have little or no knowledge of the disease.
“Paranoid schizophrenia was a very common misdiagnosis – as were others including Parkinson’s disease, Alzheimer’s, all kinds of psychiatric illnesses and people were just locked away,” says Dr. Michael Hayden, a world-renowned HD expert and leader in the quest for treatments, in an interview with Buehler.
It took years to discover the cause of my mother’s difficulties. She, too, had received different diagnoses, and some of her doctors seemed indifferent or unwilling to get her to the right specialist. At first she was put on Haldol, an anti-psychotic also used to try to control chorea in HD. I quickly learned, however, that neurologists who understood HD avoided Haldol because of negative side effects, so we got her off of it as quickly as possible.
A difficult environment
The first two images in Buehler’s work are Guthrie’s Greystone intake photographs, which Buehler found in the basement of the admissions building, shown on the next page in a recent shot by the author. Later we come across Guthrie’s bed in Ward 18 of the clinic building.
Images of Greystone Park State Hospital and a letter written there by Woody Guthrie (photos from www.woodyguthrie.org)
“I remember one time walking through the entire ward with beds lined on both sides to get to my father’s bed at the very end,” Nora recalls in the accompanying text. “The walk seemed to take forever. All around us were strange people yelling, talking to themselves, uninhibited or somber.”
I’ve learned that most HD patients are mixed in with individuals with other conditions in facilities where personnel have little, if any, knowledge of HD. HD family members must often educate health personnel about the disease. Perhaps my mother would have lived longer had there been a nursing home with appropriate enrichment activities for her condition.
Guthrie lived most of the time in Ward 40, which, with his typical mirth, he nicknamed “Wardy Forty,” as in the 1956 letter that appears in the book. Although HD by this time had robbed Guthrie of his ability to play guitar, he continued to write frequently, although ever less legibly.
My mother was always in charge of balancing the family checkbook and writing Christmas cards. For a while after HD struck, she continued these activities. She used a ruler to make perfectly straight lines on which to write addresses. She eventually lost the ability to write.
A caregiver’s dedication
In a 1956 play titled “My Forsaken Bibel [sic],” written at Greystone, Guthrie responds to a friend’s question about how he inherited HD from his mother: “Hit my mother Nora Belle when she was about 40. Made her just go into such violent fits and such violent kinds of spasms that, well, she just wreckd [sic] and just wracked every single house we did live in. My cardiographer over yonder in Brooklyn just told me my mother’s chorea sorta passled [sic] on to me here.” Nora Belle died in an Oklahoma mental hospital in 1929.
My mother loved to sew. I remember the Halloween costumes and other clothing she made for me. One day she just stopped. She left scores of patterns unused. Like Guthrie, I love writing. I have already passed my mother’s age of onset. How much longer before HD erodes my ability to express myself? Will I need to go into a nursing home? Will a treatment be found?
Marjorie loved and cared for Guthrie despite the fact that they had separated about a decade earlier because of strains over the disease. They eventually divorced. Near the end of Wardy Forty, Buehler places photographs of the couple at her Queens home, where she would take her husband for visits.
“She stripped him of his clothes and scrubbed him in the bath, sprinkling him with talcum powder and singing, 'Doesn’t he smell sweet now!'” Nora recalls in the accompanying text. “She would wash and iron his clothes, sew up the tears, and dress him like a mother dressing her child for a first day of school.”
Once my father, daughter, and I went with my mother to a park. My mother needed to use the rest room. We had to lift her from her wheelchair and maneuver her clumsy and unresponsive body into the stall. It was like moving dead weight. She nearly fell. When she was finished, we had to repeat the process in reverse. Later, in her final months of life in the nursing home, my father visited her every day. Dejected by her death, his own dementia worsened dramatically. A year after she died, he started taking a large, beautiful, framed picture of her wherever he went, including restaurants. In 2009 he, too, died in a nursing home
Time to stop ‘throwing away’ people
The final two images of Buehler’s book are of Guthrie’s Greystone discharge photos from April 1961, which contrast with the 1956 frontal intake photo. Initially, Guthrie looks into the camera. His expression is sad, but he appears relatively healthy. Upon discharge, however, he casts his eyes downward, typical of the difficulty HD-affected individuals have with visual focus. He appears to have lost much weight.
Arlo was 19 when his father died. That same year, he released the song “Alice’s Restaurant,” a protest of the Vietnam War draft. In 1969 he starred in the Hollywood movie based on the song and performed at the Woodstock Festival. Arlo himself never tested for HD and has not shown symptoms.
In Wardy Forty, Arlo has a strong message about Greystone and its residents: “These places were built so that they wouldn’t be a burden on society. You could throw away your odd child, put him in one of these towns, almost like sending people to Australia from England years ago. Penal colonies. And so it’s no wonder why they ended up in this sort of notoriously bad scene. They were set up from the very beginning to be away from the world, and not be part of it. Greystone is a real monument to that.”
The idea behind Greystone still largely governs our outlook on care for the neurologically disabled.
People across the country are acting to correct the situation. Maria Shriver and former Supreme Court Justice Sandra Day O’Connor – both lost loved ones to Alzheimer’s – have warned the public of the Alzheimer’s “tsunami” about to hit America.
In Vermont, HD activists successfully advocated for state laws preventing inappropriate transfers of nursing facility residents and requiring public assistance for home-based and community-based care. At the national level, HDSA is pressuring Congress and the Social Security Administration to update long-outdated and inaccurate disability criteria for HD and to waive the two-year waiting period for patients to receive Medicare benefits.
Responding to press reports of corruption and abuses and requests from advocates, California state legislators in January announced twelve bills aimed at addressing the inadequate care in the state’s assisted living facilities and nursing homes.
Indeed, the time has come to develop a more compassionate society by valuing both the person cared for and the caregiver.
Sunday, April 13, 2014
In the second half of the 1990s, after learning of my mother’s diagnosis for Huntington’s disease, the 50-50 chance of having the genetic mutation unsettled me greatly. One way I dealt this was to throw myself into my career.
The fear that I would follow in my mother’s footsteps and lose my ability to work frequently caused me to panic. I was just 36, but the future seemed bleak because I witnessed in my mother and other HD patients the terrible devastation of the disease. She was declining rapidly. I thought my own decline could occur at any time and was convinced that, at best, I wouldn’t get very far into my 40s before HD hit.
Striving to achieve the academic milestone of my first book – the gold standard for recognition for professional historians – I sometimes wrote as many as 14 hours per day.
The quest for success – I was already thinking about my professional legacy – served as a powerful form of denial.
During that now seemingly crazy but certainly understandable response, I often neglected my relationship with Regina, my wife. Regina had stood by my side throughout our ordeals with HD, but the long hours I worked meant fewer hours to grow with her in the marriage.
After my initial impulse to get tested for HD right after my mother’s diagnosis in late 1995, I had sensibly postponed testing to gather information about the disease and avoid the risk of genetic discrimination. Regina agreed that we should delay starting a family until we sorted out all the issues HD presented for conceiving and raising children.
However, after a few years of waiting, and approaching her mid-30s, Regina wanted a child badly.
My decision to get tested in 1999 to prepare for having a family, my subsequent positive test result, our daughter Bianca’s negative result in the womb, and her birth the following year grounded me again in the basics of life and sealed my commitment to my family.
As Bianca grew, my mother headed towards death.
Soon, rather than working overtime on professional issues, I stepped up my HD advocacy, although always behind the scenes because of the enduring fear of genetic discrimination.
I still spent much time away from Regina and Bianca, yet I also learned to manage my week more efficiently. I reserved special moments for them, especially on the weekends.
Raising Bianca along with Regina and watching her grow into a teenager have brought me great pride and joy. There is no more important task for parents.
Although no life is risk-free, we are profoundly relieved and grateful that she will never have HD.
In my work as chair of the history department at the University of San Diego (USD), I always say “family first” to co-workers needing time off to attend to critical matters such as an ill child.
A clear purpose
In the 18 months since I exited the “HD closet” and announced the adoption of a second academic field, I’m once again reshaping my career.
I’ve reflected deeply on what professional ambition means for me. Whereas career was once top priority, today I think a lot more about human solidarity.
At home, this means keeping the focus on family. In the academic venue, it’s about viewing career as a service to students, the profession, and society. In HD advocacy, it’s a collaborative effort to speed up the discovery of treatments to save tens of thousands of people like me from the disease.
My shift in attitude results partially from my experience as a parent and the perspective on life maturity provides.
However, the fight against HD also plays a very significant role.
I especially comprehend the importance of HD when I attend conferences such as last February’s Ninth HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc.
With hundreds of participants focused on the single goal of defeating HD, the feeling in the room was electric – indeed, almost surreal. The atmosphere was so intense and the connections among the participants so strong that I felt as if I were communicating telepathically with some of them.
Similarly, learning that yet another person has died from HD or juvenile HD strikes me in the pit of the stomach and redoubles my sense of urgency as an advocate.
My academic career began as a search for professional and personal fulfillment fueled with a passion for Latin America and its history. My investigation into the history of science, technology, and medicine – which includes my HD advocacy and, in this blog, an ongoing, firsthand account of living at risk – transcends the professional and the personal. It builds awareness about the global, cutting-edge efforts to improve brain health.
In short, I now have a clear purpose.
Melding career and activism
My reshaped career melds my professional training with my advocacy work. As I wrote recently, at work I raised concerns about the long-term effects of head injuries suffered by college football players.
On April 3, I attended a USD-sponsored panel discussion on ethics and genetic testing, with a focus on the direct-to-consumer genetic testing service 23 and Me. Last November the federal Food and Drug Administration ordered the company to stop selling its saliva connection kit and genome service because the agency said it had failed to demonstrate the tests’ accuracy. I made an audio recording of the USD event and took photos of the participants, who included fellow faculty members as well as two deans. I plan to report on the event in this blog. This is the first time that I have covered a USD event as an HD blogger.
During the 2014-2015 academic year, I will be on sabbatical, that is, freed from teaching and administrative duties to focus exclusively on research and related projects. During that period I plan to work on a long-gestating book on former Brazilian revolutionaries who have come to positions of power. I also aim to continue my HD advocacy, and I will prepare a new course tentatively titled “A History of the Brain,” a subject not being taught in our History department nor in any science department.
I hope that course, to be taught after I return from leave, will inspire students to become historians and to build awareness of the centrality of the brain in our lives, as well as produce more humanistic, historically-oriented science majors.
In general, I feel a growing desire to help guide young people – surely a function of being a father of a teenager and a veteran professor, but also of my solidarity work in the HD movement.
Riding a whipsaw, but content
On April 10, I flew to Providence, RI, to take part in a conference at Brown University marking the 50th anniversary of the U.S.-supported Brazilian military overthrow of the democratically elected President João Goulart.
This was the first meeting related to Brazilian studies I had attended in more than four years. The long hiatus was caused by my growing interest in the history of science, technology, and medicine.
It was also the first time I took part in a Brazilian studies event where people knew about my HD status. I received words of encouragement from several colleagues, including some who have made donations to the cause. I felt very much at ease, and I was thrilled to feel some of my old passion for Brazil return and to catch up with my colleagues.
I also brought to the conference a much sharper mental focus, obtained thanks to my participation in events such as the HD Therapeutics conferences, which, because they represent completely new and highly complex material about a life-or-death matter, require enormous concentration, energy, and openness to different perspectives.
By sheer coincidence, on April 12 the Rhode Island chapter of the Huntington’s Disease Society of America (HDSA) held its inaugural family education day at Butler Hospital, also in Providence. I took part, giving a presentation titled "Opportunities for HD Advocacy."
You can watch my presentation in the video below. For other presentations from the education day, click here to visit my Vimeo video album of the event. (I'll be adding additional presentations from the event in the next few days, so be sure to refer to the album again.)
Opportunities for Huntington's Disease Advocacy: A Presentation by Gene Veritas at Butler Hospital from Gene Veritas on Vimeo.
Immediately after the family education event I got a ride to the airport with Connecticut HD activist Laura Kokoska, who updated me on her HD-stricken mother, who is 71, and her own advocacy activities.
On the morning of April 13, I led the Serbin Family Team in the third annual Team Hope Walk of HDSA-San Diego.
Flying coast-to-coast twice in less than 72 hours (with connections in Chicago), jumping from one event to another in Providence, presenting talks on both Brazilian history and HD advocacy, arising early on the 13th for the Hope Walk – it all felt like riding on a whipsaw.
No matter! I was excited to thrive and make yet wider and deeper connections in both spheres of my career.
As I've learned, my life must not serve my career, but my career my life.
A successful Hope Walk
The Hope Walk was a success, raising approximately the San Diego chapter goal of $44,000. Lead corporate sponsor Auspex Pharmaceuticals, a San Diego-based company conducting HD research, donated $10,000 to the event. Other major corporate donors included pharmaceutical firms Vertex and Lundbeck, both of which also have an HD focus.
For the second straight year, the Serbin Family Team was the top team fundraiser, with a total of more than $4,600. I wish to thank the 44 donors (individuals, couples, and families) who gave to the cause, as well as the team members who walked with us at Tidewater Park in Coronado, CA.
As in past years, the support of HD-focused firms and the participation of more than 300 people, including some of the scientists seeking treatments, lifted my spirits.
You can view the Serbin Family Team and other scenes from the Hope Walk in the photos below.
The Serbin Family Team of the 2014 HDSA-San Diego Team Hope Walk: from left to right, Dory Bertics, Bianca Serbin, Jane Rappoport, Gary Boggs, Yi Sun, Kenneth Serbin, Regina Serbin, Allan Rappoport (photo by Bob Walker)
Gene Veritas (aka Kenneth Serbin) presents 16-year-old juvenile HD patient Terry Leach with the iPad mini won by the Serbin Family Team for being the top Hope Walk team fundraiser (photo by Misty Oto).
HDSA-San Diego President George Essig addresses the crowd just before the Hope Walk begins (photo by Gene Veritas).
Hope Walk co-organizer Misty Oto addresses the crowd alongside Christian Rodriguez (left) and Terry Lopez, organizer of a Poway High School student group established last year to support the local HD community (photo by Gene Veritas).
Tim Schroeder (left), Gene Veritas, and HD support group facilitator Sandy Grofcsik
Walk participants LaVonne and Paul Cashman (left) and Jim Stone (photo by Gene Veritas)
Wednesday, March 26, 2014
In 1999 I received the results of a genetic test that showed I had 40 CAG repeats on the huntingtin gene inherited from my mother, who died of Huntington’s disease in 2006 after a two-decade struggle with the disorder.
Everybody has this gene, which first appeared 800 million years ago in a species of amoebae. Huntingtin helps our cells function properly.
The gene’s CAG repeats refer to the sequence of three nucleotide bases – cytosine, adenine, and guanine, all building blocks of DNA – on the DNA molecule. Most people have 27 or fewer repeats. The gene I inherited from my father had fewer than 20.
My mother’s high CAG count caused her to start experiencing HD symptoms – typically manifested as emotional distress, cognitive loss, and involuntary movements – in her late forties.
The term “CAG repeats” and my mother’s count of 40 were two of the very first facts I learned about HD after receiving news of her diagnosis in late 1995.
The geneticist used the same terminology when he revealed my test results.
However, as he told me and many other recipients of HD test results, “a positive test result is not a diagnosis.” While everybody with 40 or more repeats will develop HD in his or her lifetime, scientists cannot yet predict the exact moment and type of disease onset.
According to John Warner, Ph.D., the director of biostatistics for CHDI Management, Inc., which carries out the day-to-day mission of the non-profit, HD drug-discovery biotech CHDI Foundation, Inc., 95 percent of those individuals with 40 CAG repeats will experience disease onset between the ages of 50 and 74. (A future article will explore the statistical meaning of the CAG count in greater detail.)
With an ominous test result at age 39 but no symptoms, I needed to construct a definition of my genetic predicament for both myself and for others.
As I said recently in an interview, unlike treatments for certain kinds of cancer, I cannot irradiate my defective huntingtin gene to destroy it. It’s part of me, literally residing in every cell.
Because of its genetic nature, HD also requires a far more nuanced kind of diagnosis. Subtle symptoms can exist for years before the more noticeable symptoms commence.
For many years, I referred to myself as “gene-positive for Huntington’s disease,” a term I heard often in HD family and scientific circles. I also used phrases such as “tested positive for HD.”
“Gene-positive” echoed the term “HIV-positive” used by the AIDS community. It meant not only that I had tested positive for a condition, but that I inevitably faced its dire consequences.
Thus, “gene-positive” resonated with the deep stigma, discrimination, and alienation suffered by members of both the AIDS and HD communities.
“Gene-positive” further implied an activist stance. As with the early years of the fight against AIDS, we in the HD community needed to tell the world we needed treatments and the resources to find them.
I experienced all of these feelings in the late 1990s and early 2000s, as I immersed myself in advocacy work for the Huntington’s Disease Society of America.
They remain with me today as we still await the discovery of an effective treatment.
As my knowledge about HD increased, and as I came into ever closer contact with HD researchers in labs and at events such as the annual CHDI-sponsored HD Therapeutics Conference, both my perceptions of HD and the terms I used to describe my situation changed.
As I learned to my first visit to CHDI in 2009, many scientists see gene-positive individuals as genetically and, at least at the cellular level, even functionally compromised from birth.
I started to hear scientists used the word “premanifest” to describe asymptomatic, gene-positive individuals.
Soon I would be introduced to “prodrome” and “prodromal”. A precursor or forerunner to the disease, prodrome refers to the period before onset.
However, I could never imagine using such a technical term to describe myself to others.
Scientists and physicians also used “asymptomatic” and especially “presymptomatic” to describe people like me. I have frequently used the former to indicate to people that I face the danger of HD but am fine for now.
Other phrases I have used or heard include: HD gene carrier; HD gene mutation carrier; asymptomatic HD gene carrier; disease-gene carrier; tested positive for the genetic defect that causes Huntington’s disease; and carry the gene for Huntington’s disease.
Living with the ‘phantom gene’
At the World Congress on Huntington’s Disease in Rio de Janeiro last September, HD activist, historian, and author Alice Wexler, Ph.D., noted that much recent scientific discussion has focused on defining when HD actually begins.
During a panel on coping with HD, Dr. Wexler asked how global HD advocate Charles Sabine and I – both gene-positive but asymptomatic – viewed ourselves as individuals living with the “phantom gene” and in what circumstances would consider ourselves as having HD.
“It changes for me depending on where I am,” I replied. “If I’m at a conference like this: ‘Oh, my God! I have HD.’ Because I see all these studies and brain scans and searches for biomarkers … and references to me as prodromal…. There’s a tendency of the scientific community to see gene carriers as diseased from Day One.”
In settings such as my doctor’s office, I felt different, I said. “My doctor’s telling me: this time you got a clean bill of health.”
Charles, agreeing with my outlook and saying that he “treasured” his current good health, answered the question in a “wider, more metaphysical sense.”
“We are not just someone who’s had a bit of bad luck,” Charles said about having inherited the HD mutation. “We are a part of history. I have absolutely not a single shred of doubt in my mind that, whether it’s 20, 50, or a 100 years [off], that this disease will be managed just like HIV-AIDS can be now.”
You can watch the entire exchange in the video below.
Living with a 'Phantom Gene': Two Huntington's Disease Gene Carriers Discuss Their Perceptions from Gene Veritas on Vimeo.
A new shorthand
The latest conception emerged at the CHDI-sponsored HD therapeutics conference in Palm Springs, CA, last month, where Andrea Varrone, M.D., Ph.D., of the Karolinska Institutet (Sweden) gave a presentation whose title included the phrase “Huntington’s disease gene expansion carriers.”
That phrase very accurately describes someone like me, because it specifically identifies the cause of the disease: an expansion of the huntingtin gene. However, the term does not by itself identify whether a person is symptomatic or asymptomatic.
Nevertheless, it’s good shorthand for the concept of expanded CAG repeats.
However, both the phrase and its acronym, HDGEC, are a mouthful! They might not resonate with the community, and even less so with the general public, which is more familiar with the idea of a “mutated gene” than with the term “expanded gene.”
‘You don’t look like an HD person’
The abundance of terms to describe asymptomatic HD gene carriers reminds me that those of us in this predicament are undergoing “the new and harrowing human experience of living in the gray zone between a genetic test result and the onset of a disease foretold.”
Scientists have demonstrated that changes in the brain occur ten and even 20 years before onset – meaning that my brain may already be seriously compromised, even though I function just fine.
Inexorably, perniciously, but silently, HD attacks the brain.
However, it’s not discernible from the outside.
“You don’t look like a person who has Huntington’s disease,” a health professional told me recently as I contemplated him writhing with pain and discomfort from a knee operation that forced him to wear a brace and use crutches.
There is no particular way for a premanifest person to look! Moreover, no “crutch” yet exists to help the presymptomatic HD brain recover from the initial assault on the cells.
As an HD gene carrier and advocate for this orphan neurological disorder, I continually face the challenge of explaining the seriousness of the disease and its many social implications.
Along with other neurological disease communities, we in the HD community are still searching for the right formula to project the urgency and significance of our predicament.
A temporary escape
Often those of us in the gray zone prefer not to deal with HD. Unlike others in the community, we don’t yet face the minute-by-minute struggle with symptoms.
At the local HD support group meeting this week, I was the only at-risk individual to appear. Even so, the facilitator and her replacement-in-training for the at-risk section (which normally includes both tested and untested asymptomatic individuals) held a session with me. I wanted to help bring the new person up to speed on the history of the support group and the needs of the at-risk section.
We noted that the support group’s caregiver section is usually the largest of the three subdivisions, followed by the section for those already affected.
The at-risk is usually the smallest – even though at-risk individuals outnumber affected individuals nationally by a ratio of at least five to one.
I sympathize completely with the occasional need to “escape” from HD, so I understand why other at-risk people didn’t attend the meeting. However, I am hyper-aware of the need for more individuals to participate in research studies and clinical trials to create effective treatments.
The transition to patient status
The facilitators and I also discussed the difficult choice individuals and facilitators must make in transitioning newly affected individuals out of the at-risk section and into the affected section.
I’ve witnessed this transition for a number of people. I can’t imagine how hard it is.
Once the symptoms begin, the terminological ambiguity ends. They are now “affected” or “symptomatic” individuals. They are “HD patients.”
I anxiously await the moment when an effective treatment would not only ameliorate these and other patients’ symptoms, but also prevent onset in asymptomatic gene carriers.