A veteran neurologist’s book offers tools for navigating the ‘turbulent world’ of Huntington’s disease

 

In the fight against any disease, affected individuals and health professionals can arm themselves with an invaluable tool: detailed, cutting-edge knowledge about a condition’s medical and social impact.

 

For the Huntington’s disease community and related disorders, Thomas Bird, M.D., has made a key contribution with his book Can You Help Me? Inside the Turbulent World of Huntington Disease, published last year (Oxford University Press).

 

A retired neurologist who has observed more than 1,000 individuals with HD, Dr. Bird has produced one of the most important – and most accessible – introductions to this devastating disorder. Can You Help Me? will remain relevant for years.

 

Dr. Bird is an Emeritus Professor of Neurology and Medical Genetics at the University of Washington in Seattle, WA. His career spanned more than 40 years, including pioneering work in the field of clinical neurogenetics (diagnosing and evaluating hereditary nervous system disorders). His patients included sufferers of Alzheimer’s disease (AD), Parkinson’s disease (PD), and other severe, chronic brain conditions.

 

“I have been […] constantly amazed, puzzled, distressed and impressed by the trials and tribulations of these families coping with it,” Dr. Bird writes of Huntington’s. (As with some in neighboring Canada and elsewhere, he calls it “Huntington disease.”) “Dealing with HD has been so moving, so unsettling and so challenging for me that I felt compelled to write about it.”

 

“Can you help me?” a desperate HD-affected man wrote Dr. Bird from the state penitentiary in 1980 seeking medical assistance. That question reverberated in Dr. Bird’s encounters with many other HD people and their families and caregivers.

 

With non-technical, limpid prose, Dr. Bird tells the full story of HD’s wide-ranging medical, socioeconomic, and legal implications through a series of poignant vignettes, based on hundreds of HD cases. He changed identifying information to preserve patient privacy, and in some cases created composites of two or three different individuals.

 

Can You Help Me? will ring familiar to veterans of the HD cause, but it also offers new revelations and insights about HD’s impact. Also, it provides an excellent primer for families new to HD.

 

 

Key lessons about bioethical challenges

 

Many of the stories in Can You Help Me? center on the bioethical challenges faced by HD families, such as the complex ramifications of genetic testing.

 

Dr. Bird retells the story of a deeply troubled young man from an HD family killed by the police after a life of drug use and many clashes with the law – anti-social behavior perhaps resulting from the disease. The man’s aunt pleaded with Dr. Bird to have the coroner confirm the man’s HD status, because he had a three-year-old daughter for whom the test result would someday hold great relevance. Divorced, the man had lost contact with the mother.

 

“Needless to say, this was uncharted territory for us,” Dr. Bird writes of his clinical team. “The appropriate legal or ethical aspects of this case were not clear to me, but I called the University Hospital genetics lab and explained the situation.” On Dr. Bird’s orders, the lab performed the test.

 

The test demonstrated that the man indeed did have HD – “another burden” for the extended family, as Dr. Bird writes.

 

“To this day, I do not know if we followed the correct strategy in trying to help this family,” he concludes. It seemed like “quick thinking” to ask the coroner to save a sample of the dead man’s blood for HD testing, he observes. But many questions remained, including when and how to tell the girl of her at-risk status, he adds.

 

Dr. Bird believed that he might encounter the family again, when the little girl had grown up.

 

Dr. Thomas Bird (book jacket photo by Chang En Yu)

 

No ‘typical’ patient

 

In an appendix, Dr. Bird provides an overview of the genetics of HD and the genetic testing process. In general, as I noted in a previous article, Dr. Bird’s book has helped move the HD field from a traditional, more limited kind of genetic counseling to broader “genetic education.”

 

Can You Help Me? reflects on many other key issues for the HD community.

 

He offers valuable insight into the challenges faced by health professionals working with HD patients, as exemplified in the story of a patient clinic who shot himself. “Could we have done more?” Dr. Bird asks. “These situations are heavy burdens for everyone to bear.”

 

Dr. Bird’s vignettes underscore another crucial point in line with the latest medical and scientific research into the disease: there is no “typical” HD patient, as symptoms manifest uniquely in each case.

 

Notably, Dr. Bird does not describe HD as being like a combination of other diseases such as AD and PD, a shorthand some in the HD community use. Dr. Bird instead compares HD to these and other conditions, thus adding vital context.

 

Dr. Bird also emphasizes the need to end the false dichotomy between psychiatric “mental” diseases like schizophrenia and “brain” diseases like HD. Both originate in the brain, he points out, and both cause “mental illness.” Psychiatry and neurology should intersect more, he argues.

 

A contribution to the history of HD

 

In researching the book, Dr. Bird did important historical legwork. For instance, he painstakingly tracked down important episodes such as the use of lobotomies as an attempt to treat HD.

 

“It is estimated that 50,000 lobotomies were performed in this country between 1938 and 1955,” Dr. Bird writes. “Since persons with HD were often institutionalized and lobotomies were common, it is likely that many of these operations were performed on patients with HD.”

 

Although the procedures on HD people were “not easy to document,” Dr. Bird finally found evidence by examining medical texts. In all, Dr. Bird estimates that “perhaps more than 100” people with HD had the operation. It is not currently recommended for HD.

 

A ‘Princess in Pink’

 

Although many vignettes are gut-wrenching, Can You Help Me? also highlights the sometimes-brighter side of the HD story, such as individuals with late onset, mild symptoms, and productive lives.

 

That message holds two-fold meaning for me as an asymptomatic 61-year-old HD gene carrier who saw his mother develop the disease in her late 40s and die at 68.

 

First, I remember how fortunate I am to have reached this stage without symptoms.

 

Secondly, as a writer and advocate, it reminds me that, no matter how badly the disease has turned people like my mother into shadows of themselves, we should see them as humans struggling with disabling symptoms.

 

A caring community can seek to alleviate some of that burden.

 

One of my favorite stories from Can You Help Me? spotlights the “Princess in Pink,” Bobbi, a little girl who, although afflicted with juvenile HD, maintained her cheerfulness.

 

Bobbi’s fifth-grade teacher, Miss Perry, “decided to be proactive,” Dr. Bird writes. “She wanted to make Bobbi more comfortable in the classroom and educate her other students about Bobbi’s disease and how to relate to persons with disabilities.”

 

The class created the “Princess Project” to discuss HD and create a booklet ­– with a pink cover and a picture of Bobbi wearing a pink crown – about Bobbi and her condition. The classmates wrote perceptive and compassionate entries and also made drawings of Bobbi.

 

“It was a learning experience for everyone, including the adults,” Dr. Bird recalls.

 

Sadly, by age 15, Bobbi’s conditioned worsened, requiring a feeding tube, a frequent end-of-life measure for HD patients. She died in a hospice setting. Several of her old classmates attended the memorial service, where they fondly remembered Bobbi, Dr. Bird writes.

 

A resounding ‘yes’ in wanting to help

 

Can You Help Me? is one of the best and most important books about HD. It builds on the work of historian Alice Wexler, in particular her book The Woman Who Walked into the Sea, which uncovers many of the prejudices associated with HD (click here to read my review).

 

Dr. Bird has provided us with a deeply rich documentation of life in the HD trenches.

 

The title Can You Help Me? asks a question that I and so many other HD family members have posed when confronted with the frightening prospects of HD. (It also holds great value for people in the AD, PD, and other neurological disease communities.)

 

“Sometimes we can help a great deal, sometimes we can only help a little, and sometimes we just muddle through as best we can, navigating our way between suffering and harm,” Dr. Bird concludes, noting briefly that research towards treatments “heralds better days ahead for the world of HD.”

 

Fortunately, for the HD community, Dr. Bird’s book indicates a resounding “yes” regarding the desire by him and so many other professionals to alleviate the suffering caused by HD.

 

(For an interview of Dr. Bird about the book, click here).

‘Crying a few million tears’ for the fallen victims of Huntington’s disease

Huntington’s disease relentlessly attacks the brains of its victims and in other ways wearies many of us involved: advocates, caregivers, gene carriers like myself awaiting onset, young people pondering genetic testing.

Knowing at 56 how fortunate I am to have remained healthy beyond my deceased mother’s age of onset, I took a “break” from advocacy over the summer. (Click here to read more).

However, on October 24 the hard reality of HD hit home once again.

Responding to a request from the Huntington’s Disease Society of America (HDSA) for information on this blog’s impact in the “landscape of HD communication,” that morning I wrote a long e-mail detailing how At Risk for Huntington’s Disease has reached thousands of people via both the web and Facebook.

Since I began writing in January 2005, the blog’s 230 articles have garnered more than 650,000 page views. More than 3,200 Facebook friends also have access to the blog in 60 HD-related groups.

“I think one of the most important aspects of the blog has been the wide range of topics it has covered: my family's struggles with the disease (mother dying, me testing positive, [my daughter] testing negative, etc.), the many social implications of the disease, advocacy issues, and the search for treatments,” I observed.

Reviewing the blog’s history reminded me of many painful moments in my struggle and of the HD community's collective suffering.

A nervous stumble

That afternoon, I had my annual HD checkup with a neurologist.

As with past checkups, in the hours before the visit, I became apprehensive about my performance on the various neurological tests.

One involves walking heel-to-toe along a straight line. This year I began that test with a bit of a nervous stumble. I wondered if that might be an early sign of onset.

I regained my balance and successfully completed the walk. I was going to suggest to the doctor that I repeat it, but she told me that I had done fine.

The other tests also went well.

Fortunately, she once again declared me symptom-free.

Tensing up at support group

Naturally, I felt greatly relieved.

However, I faced yet another challenging HD moment that evening: the annual research update at our local support group, from Jody Corey-Bloom, M.D., Ph.D., the director of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego.

Each year I record Dr. Corey-Bloom’s talk, later posted here and on Facebook. Striving to produce a video of good quality, I tensed up as I focused in and out and turned the camera to follow Dr. Corey-Bloom’s movements. This was vital information for the HD community.

With the rest of the audience, I intently listened to her presentation of the latest research breakthroughs and news of the crucial clinical trials that provide hope for effective treatments and perhaps even a cure. The update included a detailed discussion of the historic gene-silencing Phase I trial by Ionis Pharmaceuticals, Inc. (Click here to read more about the Ionis trial.)

Given the many projects in progress, Dr. Corey-Bloom spoke for 90 minutes, her longest update ever.

Seeing HD-affected support group attendees reminded me of my good fortune but also of the inevitability of my own onset, if a treatment isn’t found.

You can watch Dr. Corey-Bloom’s update in the video below.

Update on Huntington’s Disease Research 2016: A Presentation by Dr. Jody Corey-Bloom from Gene Veritas on Vimeo.

‘A life-long Holocaust’

Still pondering the exhausting moments of October 24, the next morning I was jolted by a powerful comment on my September 15 article "Dreams for a better future: an opportunity we Huntington’s disease people and our families are denied."

The words speak for themselves:

I am in nearly the same situation as the author of this blog. I am now 59 years old and will be 60 in February. Huntington's Disease killed my father & half my family. My sister is dying now in an extremely horrible case where she is burning so many calories that she looks like a skeleton. I have actually had continual muscle contractions all my life since I was about 25 years old, but nothing else. I've been able to live my life and work and function normally (although, I never married or had children). I've wondered my entire life when it would happen to me. Now, at almost 60, I wonder if this is it, and this is all that will happen, and I wonder why. Why did it kill so many people in my family and not me?

I can't really imagine a more horrible experience in a family. I had a doctor once tell me that he had never seen a single person come out of a Huntington's family who wasn't emotionally damaged for life. He described it as a kind of "life-long Holocaust" where you live your entire life watching one persona after another die the most horrible deaths, and unlike the Jews, you don't have anyone you can blame.

I have cried a few million tears in my life, but now approaching 60, I am able to see some things I could not have seen years ago. I look at myself and my family, and I realize that none of us are the people we would have been without this disease. We all became so much "more." We all learned to truly "see" people, to feel empathy with all people suffering, to appreciate all the small moments and the good things in life. We all embarked on a life-long journey to find meaning and to understand our place and purpose in this world. And, when I look around and see all the various kinds of suffering in this world, it makes me think that maybe this has always been the reason and the purpose for it – to cause us to become "more."

These words not only rekindled my desire to defeat HD; most importantly, they also inspired compassion.

Sarah falls to HD

A diagnosis for Huntington’s disease forever changes the lives of affected individuals and their families.

Without an effective treatment, thousands of people around the world continue to succumb to HD.

On October 17, Huntington’s took the life of 37-year-old Sarah Brook of Tamworth, England.

Many in the HD community became familiar with Sarah’s struggle on “Sarah’s Dream,” a Facebook page run by her mother Gail and stepfather Jeff. “Sarah’s Dream” is also the name of a motorcycle the family used in the effort to raise funds and awareness. According to Gail, Sarah’s first symptoms appeared in her early twenties. Sarah's father died of HD at the age of 35.

“This is the saddest time of my life,” Gail wrote on Facebook. “Nothing could compare to the loss and heartbreak I feel. […] It's the wrong way round, this shouldn't be happening. I can't bear the thought that I'll never see her again. I want to hold her so much.”

Sarah’s funeral took place on November 3. Her body was cremated.

“We've put her near the TV,” Gail wrote of Sarah’s ashes, held in an urn. “She's always liked her telly, and [we] will scatter them in the place she chose, when we feel ready.

Despite their enormous loss, Gail and Jeff will continue in the fight against HD.

“We've been married for 33 years and he adopted Sarah, knowing that she was at risk of HD,” Gail wrote me in a Facebook message. “We have agreed to carry on with Sarah's Dream, in memory of Sarah.”

We need to find a way to wipe away the tears of HD. Perhaps we can be heartened by the profound dedication to the cause displayed by Sarah's family.

Above, a collage of photos of Sarah Brook. Below, Jeff Brook riding Sarah's Dream (family photos).

‘Tired of waiting,’ Huntington’s disease families engrossed in efforts to conduct clinical trials

The atmosphere in the packed San Diego Huntington’s disease support group meeting room on the evening of October 28 was both somber and electric with anticipation.

Flanked by loved ones, HD-affected individuals struggled with involuntary movements and a hampered ability to communicate, providing stark evidence of the disease’s unrelenting attack on minds and bodies.

For asymptomatic HD gene carriers like me, they represented our future if scientists don’t soon find a way to stop the inevitable, devastating symptoms. I always leave these monthly meetings deeply unsettled and unable to sleep soundly.

At the front of the room, a key player in the effort to develop effective treatments, Jody Corey-Bloom, M.D., Ph.D., explained how the local firm Isis Pharmaceuticals, Inc., had successfully run the first ever safety test of its unique type of drug in patients suffering from a neurological disorder, in this case, amytrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease or motor neuron disease. The results were published in the May 2013 issue of the journal Lancet Neurology. Isis is developing an HD-gene-silencing drug in partnership with the pharmaceutical giant Roche.

“I realize you guys are just tired of waiting (for treatments),” Dr. Corey-Bloom told the audience of some 50 people. “But I think Isis is really in a good position right now (to get their HD drug into a clinical trial)…. They’ve got lots of money, with Roche’s kind of support. I think that they’re feeling comfortable about the fact that they were able to do this.”

None of the ALS trial participants experienced adverse effects from the Isis drug, Dr. Corey-Bloom said.

Although Dr. Corey-Bloom pointed out that the very small dose of the Isis drug, an artificial form of DNA known as an antisense oligonucleotide (ASO), did not affect the ALS symptoms, the evidence from the trial of safety and patients’ tolerance for the drug helped paved the way for additional tests to examine efficacy.

It also set the stage for the planned Isis-Roche HD clinical trial, tentatively scheduled to start sometime in the next 18 months. The project has the support of the CHDI Foundation, Inc., the non-profit virtual biotech firm dedicated to finding treatments for HD. (Click here to read more.)

Surveying the field

The San Diego support group had convened to hear Dr. Corey-Bloom’s annual HD research update, usually the best attended meeting of the year.

The diminutive but tireless neurologist dedicated the first half of her 85-minute presentation to HD research conducted locally, including projects at the unit she directs, the Huntington’s Disease Society of America Center of Excellence for Family Services and Research at the University of California, San Diego. These studies have mainly focused on ways to measure the onset and progression of the disease – essential for gauging the efficacy of drugs tested in clinical trials. (Click here for an example.)

In addition, Dr. Corey-Bloom surveyed some of the clinical trials set to begin soon, including a phase II trial for a phosphodiesterase inhibitor (a kind of “Viagra for the brain”) planned by Omeros Corporation.

Dr. Corey-Bloom also announced that she’s seeking funding from the National Institutes of Health (NIH) to conduct a clinical trial in HD patients of an already widely used non-HD drug shown to increase BDNF (brain derived neurotrophic factor), a kind of “fertilizer” for the brain. HD patients have insufficient BDNF, which could cause cell death in the deep structures of the brain where the disease is thought to begin, she explained.

“I stumbled across it mainly because I was just reading some other things,” said Dr. Corey-Bloom, who declined to identify the drug until funding is in place and the drug’s manufacturer agrees to participate in the research. “I said, ‘Ooh! Wow!’ It’s such a great story. It’s been keeping me up at night thinking about it. We will get it going. First with animals, then with people.”

Her project collaborator is Beth Thomas, Ph.D., of the Scripps Research Institute in San Diego.

You can watch Dr. Corey-Bloom’s presentation and the Q & A in the videos below.

Advances in Huntington's Disease Treatments: A Presentation by Dr. Jody Corey-Bloom (Part I) from Gene Veritas on Vimeo.

Advances in Huntington's Disease Treatments: A Presentation by Dr. Jody Corey-Bloom (Part II) from Gene Veritas on Vimeo.

Comfort and risk versus efficacy

As potentially one of the best treatments for HD because of its genetic approach, the Isis ASOs for HD commanded the most attention from both Dr. Corey-Bloom and the audience.

As Isis and Roche move ever closer to the long-awaited trial – Isis had first hoped to start a Phase I several years ago – crucial questions of drug delivery and dosage have gained increasing attention.

Dr. Corey-Bloom’s observations highlighted a delicate issue: the tensions between patient comfort/risk and drug efficacy.

She identified a key question: will enough of the ASO travel through the cerebral spinal fluid (CSF) from the patient’s back, where Isis plans to introduce the drug via a spinal tap, all the way to the brain?

A certain amount of the CSF naturally travels up the spinal column and over the brain, Dr. Corey-Bloom explained, but some of the ASO medication could be lost along the way.

“I think one of the big issues is how to inject,” she said. “I actually said the last time I was at Isis that they just need to put in an Ommaya reservoir and just inject it that way…. We do lots of chemotherapy for people that have brain cancer or brain infections. We put this little plastic disk into this space at the bottom of the brain [she indicated behind her ear], and then if people need to have anti-fungal medication … or cancer chemotherapies, we inject right into that little bubble, and it goes right into the cerebral spinal fluid.”

Dr. Corey-Bloom said that Isis scientists wanted to avoid the extra risk and cost of the Ommaya insertion, which, although done in just about 15 minutes and with minimal sedation, requires an operating room.

“It’s so much easier to be doing it through a spinal tap in the back than to be doing ‘brain surgery,’ which is what they kept calling it,” she continued, referring to the fact that the spinal tap doesn’t require an operation.

However, she affirmed that opting for the “more involved” Ommaya reservoir could bring better trial results.

“At least we’ll know that the medicine is getting in right up there, as opposed to way down here,” she said, pointing to her back. “If it doesn’t work, or if it doesn’t work as well as it should, we’ll be kind of wondering if maybe should have put it in a lot closer to where we need it to go.”

Proactive families

The support group/physician connection underscores the critical role of proactive patient and family participation in research and clinical trials.

The audience always follows up with questions that focus on the heart of the matter: when and how clinical trials and treatments will bring the promise of ameliorating HD.

Referring to Dr. Corey-Bloom’s discussion of the critical use of MRI scans in HD research, one group member asked whether a similar magnetic force or some electronic structure could be used to “drive” the Isis ASO drug up to the brain.

That’s “really kind of clever,” she responded, noting that she would present the idea to Isis when she meets with company researchers on November 20 to discuss the clinical trial program, including the option of the Ommaya reservoir. Her job, she said, is to bring home the clinical reality of HD to scientists who spend most of their time in the lab.

Future benefits

Dr. Corey-Bloom also will urge Isis to go beyond the standard safety and tolerability measures of a Phase I trial to consider measuring efficacy, too, she added. “They’re going to want to do a Phase I trial that is only safety and tolerability…. I think that misses your opportunity to do exploratory efficacy measures.”

The Food and Drug Administration permits this type of exploratory work in Phase I, she noted.

Isis and Roche could not draw official conclusions from such exploratory data, she said, but it could give the scientists “some idea of what to use” in the potential Phases II and III of the trial and beyond.

Looking to the future could help broaden the application of the drug to people in different stages of HD – including presymptomatic gene carriers like me for whom an effective treatment would prevent onset and ultimately make HD a thing of the past.

The end of fear and exclusion: informing my health insurance plan about the risk of Huntington’s disease

In my nearly two-decade journey with Huntington’s disease, I hid my at-risk status not just from nearly all but my closest confidantes, but also from my health plan.

My warily guarded secret exemplifies the deep-seated fears many in the HD community have about denial or loss of insurance coverage. I regularly read or hear about untested at-risk individuals or gene carriers who worry about this issue.

To protect myself from losing coverage in the event of a job change or another of life’s unforeseen challenges, I instead have relied all these years on the Huntington’s disease clinic at the University of California, San Diego (UCSD) hospital. There I have paid out of my own pocket for consultations and established a medical record completely separate from all my other health records.

As a university professor, I have enjoyed the benefits of group coverage, from which it is at least theoretically more difficult to exclude people who have genetic and/or pre-existing conditions. Nevertheless, I have always erred on the side of absolute security, never knowing what life might bring, especially in the period before I obtained tenure and therefore had some but not total job security.

Over the past two months, however, I have initiated the process of informing my health maintenance organization (HMO) that I carry the mutation for HD.

“This is all so ironic!” I said the other day to my wife Regina, the very first person I had told about HD after learning the day after Christmas 1995 of my mother’s diagnosis and my own risk for inheriting the mutation. “I’m now doing what I've avoided all these years.”

Fearing exclusion, I had not resorted to the very system supposedly designed to help me.

Feeling liberated – again

Once again – as I did in definitively exiting the terrible and lonely “HD closet” on November 4 of last year – I feel liberated.

I began to apprise my HMO of HD on August 9 with a visit to my primary care doctor, who has treated me for about six years and with whom I have developed a comfortable and cordial relationship.

I had made the appointment to address a benign skin problem and other minor issues. Finally, at the end of my list of concerns, I came to the most important item. I had rehearsed the scenario in my mind many times. I decided to go right to the point.

Almost matter-of-factly, yet with the feeling of a huge wall coming down from around me, I told him that my mother had died of Huntington’s disease and that I had tested positive.

The doctor maintained his usual professional calm. At first, I couldn’t tell whether HD represented for him just another item on my list or something really significant.

From the ensuing conversation, I was reassured to learn that he clearly knew about Huntington’s disease. He also knew the work of the UCSD HD clinic. In fact, he had previously worked several years in another sector at UCSD.

I handed the doctor a printout of my article “Racing Against the Genetic Clock,” published last November in The Chronicle of Higher Education. He promised to read it soon.

My article, written “to combat the stigma and fear surrounding Huntington’s and other neurological disorders” and “to help galvanize support for increased brain research,” revealed my HD status to the many readers of the Chronicle print edition and website and, significantly, to my professional colleagues in the fields of history and Latin American studies.

It also set the stage for informing my doctors about HD.

“I truly enjoyed reading (your) article during my lunch today and plan to keep it around when I have visitors in the office for them to review,” my doctor wrote in an e-mail later that day.

On a subsequent visit, he showed me the file where he kept my article and others about patients’ responses to challenging health conditions.

Visiting the neurologist

With a referral from my primary care physician, I then scheduled an appointment with one of the HMO’s neurologists in order to establish a relationship with a specialist in disorders such as HD and obtain a baseline reading of my neurological health.

A few days before the appointment, I faxed her a copy of “Racing Against the Genetic Clock” to provide her a detailed picture of my family’s history of HD.

At my October 7 consultation, the doctor thoroughly examined me for signs of classic HD symptoms such as difficulties with memory and the inability to walk along a straight line.

As in previous consultations at the UCSD clinic, the doctor saw no evidence of symptoms.

We discussed the various psychiatric medications that I take to help remain psychologically stable and at least one of which might protect brain cells, according to one of the physicians at the HD clinic.

I added that I would schedule an appointment with my HMO psychiatrist to help in my struggle to deal with both the psychological stress of living at risk and to do all that is medically possible to protect my brain from a disorder for which there is no proven effective treatment.

The neurologist and I also discussed the supplements I take, such as creatine and coenzyme Q-10. She immediately arranged for blood tests to check for any deleterious effects the supplements might have on my kidney and liver. To obtain this same information in the past, I had always gotten these routine tests by requesting a check on the effects of the psychiatric mediations, but without mentioning that I took supplements.

Unfortunately, my HMO will not pay for these supplements, which cost close to $2,000 per year. The health establishment does not recognize them as valid for attacking HD, as they’re in the experimental stage: several such substances have undergone study in mice and even humans.

(Similarly, for more than a decade I have consulted with a private psychotherapist who knows about my HD status but whose services are not covered by any health plan or insurance.)

At the end of the consultation, I welled up with emotion as I thanked the doctor and explained to her how meaningful it was for me to have spoken about HD to a neurologist within my health plan.

Like my primary care doctor, she maintained a professional demeanor. However, I was very happy that she agreed to receive e-mail updates of this blog.

Moving beyond the political and social drama

As I have so far felt vindicated in my decision to go fully public about HD and meld my professional and personal lives with my advocacy, so do I now feel extremely relieved and hopeful about integrating HD care into my overall health care.

By bringing these and other professionals into the HD loop, I am strengthening the team that I will need to manage the inevitable symptoms of the disease.

At the same time, I know that I stand on the edge of history with many other Americans who for the first time are testing the political and social waters in the wake of the passage of the Genetic Information Nondiscrimination Act, signed into law in 2009, as well as Obamacare.

In speaking to people from countries such as Canada and England, where public health systems allow (at least in theory) greater openness about genetic conditions, I recognize how long and difficult the path to medical transparency has been for me individually and for the nation as a whole.

It all seems like such a needless drama, which we have relived again with a U.S. government shutdown resulting from the political impasse over the implementation of Obamacare.

We in the HD community have truly suffered the brunt of exclusion, not only from proper health care, but also long-term nursing.

As I stated in my Chronicle article, “As knowledge increases about numerous other health risks, medical ethics must undergo profound revision, and a genetic-rights movement must arise. To borrow one scholar’s phrase, disease-gene carriers like me are ‘moral pioneers’ on the genetic frontier.”

During these past few weeks, I have felt very strongly that pioneering aspect of my life. I’m thrilled now to have my HMO joining me on this journey.

(Next time: Huntington’s disease and bioethics.) 

The definitive step out of the Huntington’s closet

Today I take my most definitive step out of the terrible and lonely “Huntington’s closet”: using my real name, I have published an article about my struggle against HD in a mainstream media outlet.

Titled “Racing Against the Genetic Clock: A historian carrying the gene for Huntington’s disease hopes to galvanize increased support for brain research,” the article appears in today’s online edition of The Chronicle of Higher Education. It will also appear in the November 9 print edition.

“Scholars often shift focus over the course of a career to pursue a discovery, a new job, or a need for variety,” begins the article, which explains my exploration of the history of science as a way to expand both my advocacy and career. “For me, it was learning that I will, at some point, develop a terrifying, untreatable, fatal brain disorder.”

With great sadness, I wrote of my mother’s demise, the discovery that I had inherited the HD gene from her, and my ongoing advocacy to raise awareness and increase funding for research towards treatments.

“At 52, I have reached my mother's age of onset,” I conclude. “I cherish each moment of health. As I contemplate my intellectual legacy, I encourage others to join the race to protect our most important natural resource – our brains – and strive for a world in which science conquers disease.”

You can read the full article by clicking here.

For the public, and in my professional circles, I willingly share that that Gene Veritas is Kenneth P. Serbin. I will still write this blog as “Gene Veritas” (the “truth in my genes”), my trademark in the HD world, the persona that in many ways symbolizes the struggles of our community and, indeed, all disease-gene carriers.

Gene Veritas, aka Kenneth P. Serbin, at Alnylam Pharmaceuticals in 2011.

An arduous and painful transition

I had hid in the HD closet ever since my mother’s diagnosis in late 1995.

Many times I wanted to shout out to the world about my mom’s terrible downfall and my own potentially frightening future with the disease, but, fearful of genetic discrimination, I always kept quiet, swallowing my difficult feelings about HD.

In 2010, however, after the passage of federal health care and anti-genetic discrimination legislation, I started making public speeches about my predicament.

My gradual exit from the HD closet has proved arduous and painful.

On October 25, the day I received the news of my article’s acceptance for publication, and for a few days thereafter, I felt especially overwhelmed and apprehensive.

I thought of how tens of thousands of Chronicle subscribers will have access to my article, and many more people may read it by simply viewing it for free on the publication’s website.

Above all, I worried about how to tell my co-workers and superiors. With the Chronicle article, I will be deliberately demolishing the near-perfect firewall that I painstakingly constructed between my professional life and HD advocacy.

Some may be shocked to learn of this hidden dimension of my life, and they will likely worry about me, too.

Luckily, when I inform them about the article, I’ll also tell them that my latest checkup with my neurologist, on October 30, ended with a clean bill of health on the HD front. I’m not required to do so, but, after revealing the terrible symptoms I could suffer, I also want them to know of my success so far in remaining asymptomatic (click here to read more).

Controlling my own story

In the last few days, however, I achieved a sense of calm, and, in the final hours before the publication, even a bit of jubilation.

I’ve been able to rely on my wife, close friends, and members of the HD Facebook community for moral support.

In anticipation of the article’s appearance, I actively sought their advice about how to reveal the article to my colleagues. They’ve all helped me put this moment in perspective.

For those who advised against coming out, I’ve described the Chronicle piece as a “preemptive strike.” Rather than let others learn about my HD status by stumbling upon it on the Internet, hearing through the rumor mill, or becoming aware only when my symptoms start, I am taking the initiative to “control the narrative of my own story” about HD.

This approach provides me with the opportunity to properly educate friends and colleagues about HD and perhaps even build a support network to assist me should I become disabled.

Feeling lighter

Although this definitive step out of the closet remains a momentous event for me, I have come to see it as an opportunity to expand the Huntington’s cause and to help defeat the very stigma of HD that originally sent me fleeing into the closet.

I will also feel immense relief and joy at being able to talk openly about HD at any time and with any person.

In discussing the Chronicle piece with a close professional colleague and friend the other day, I was thankful to hear his prediction that this experience, fraught with so much doubt  about the balance between advocacy and privacy, would ultimately bring me closer to my wife.

Indeed, far too much of our energy has gone into insulating ourselves instead of reaching out for the support we need on a personal level and in terms of the cause.

I nearly cried after my friend assured me that I would feel an immense burden lifted from my shoulders.

“You’re going to feel lighter,” he said with confidence.

Amen to that!

I know the road ahead is unpredictable, and that I will feel many things besides lighter, but for now, I’m just glad I can tell people how I’m racing against the genetic clock.

( I dedicate this article to the memory of my mother Carol Serbin, who died on February 13, 2006, after a long battle against HD, and of my father Paul Serbin, the “HD warrior” who tirelessley cared for her for more than ten years and who died with a broken heart on September 25, 2009. I know my parents would have been proud of my Chronicle article.)