‘Twas the morning after Christmas – and Huntington’s disease hit us like a ton of bricks

I dedicate this article to the repose of the brave souls who have lost the fight against Huntington’s disease.

Twenty years ago this holiday season, my wife Regina and I received news that changed our lives forever: my mother Carol Serbin had been diagnosed with Huntington’s disease, and I had a 50-50 chance of having inherited the genetic defect that caused the deadly disorder.

It happened the morning after Christmas 1995.

As I took stock of that year and looked forward to 1996, I felt calm and accomplished and, despite my habitual caution, even swaggered a bit. I was savoring that extra-special, carefree holiday feeling of the college professor: finals were over, grades were in, and I had a month off.

I felt immensely privileged. In addition to winter and summer breaks devoted to reading and relaxation, my position afforded me annual trips to pursue historical research in the country that had become my second home: Brazil. I felt confident as I neared the half-way mark to tenure, which would provide me job security.

In five days, on December 31, I would turn 36. Regina, who was 29, and I had purchased a condo near the university. It was just a few minutes’ drive from the beach in San Diego, a city with spectacular scenery and perhaps the world’s best climate.

My achievements gave my parents great pride and vicarious fulfillment. My father Paul had moved our family from Cleveland to Anaheim in June 1966, but, two weeks later, missing home and regretful that we kids would grow up far from our doting grandparents, packed up everything and moved us back. Regina and I now could live the California dream he had pined for. She and I talked of starting a family and saving for a vacation home in Rio de Janeiro, where she grew up.

At around midday, everything suddenly changed.  In a phone call with my sister in Cleveland, I received the greatest shock of my life: my mother had HD.

Paul and Carol Serbin around the time of her diagnosis with Huntington's disease (above, family photo) and a decade later as the disease ravaged her mind and body (below, photo by Gene Veritas, aka Kenneth P. Serbin)

We had never heard of Huntington’s disease. According to my mother’s doctors, the disease was untreatable, inexorably destroying her brain. It was causing her to shake uncontrollably – and to lose her mind.

Learning that I had a 50-50 chance of carrying the bad gene instantly put all of our hopes and dreams on hold.

Would we be able to start a family? Could we still buy that condo in Rio? In bed one night shortly thereafter, as I became gripped with fear, Regina held me tightly.

Kenneth and Regina Serbin after his dissertation defense, University of California, San Diego, 1992 (family photo)

Still symptom-free

Each year since, Christmas has brought a sorrowful reminder of my mother’s diagnosis – and of the risk I face. After much personal reflection and discussion with Regina, I got tested for HD in 1999, and unfortunately learned I was a carrier of the defective gene.

Through more than 200 articles in this blog since 2005, I have told the story of my family’s battle, chronicled the scientific movement to defeat HD, and explored the challenges of individuals, families, and society coping with this vexing, tragic disease.

As the 20th anniversary of our initiation into HD approaches, I recognize how fortunate I am to have remained free of the classic symptoms. This month I turn 56, an age when my mother faced the triad of HD problems: chorea (uncontrollable movements), cognitive difficulties, and emotional and behavioral disorders.

As I watched her decline and ultimately die of HD in 2006, after nearly two decades of suffering, I never imagined that I would reach this stage symptom-free. At my recent, annual visit to my neurologist, she found no signs of the disease.

I have much to be thankful for. I savor every moment like a sip of fine wine.

Regina, an educator, just obtained her administrative certificate, which qualifies her to shift from teaching to a job as principal. Our beloved daughter Bianca, who tested negative in the womb, will not develop juvenile Huntington’s. She’s a hard-working high school student, choral singer, and field hockey player.

Still able to pursue my professional passions, I am writing a book on ex-revolutionaries in power in Brazil and advocating with the rest of the HD community for better care and the discovery of effective treatments.

The Serbin Family 2015 Holiday card (family photos)

A lonely holiday

However, I know that I am not in the clear. Because I carry the bad gene, I will develop HD.

As an advocate, each day I share in the suffering of other families hit with Huntington’s.

This Christmas season, as I celebrate my family’s accomplishments, it’s lonely without my parents.

Because of HD, my mother could never really hold baby Bianca. HD took Carol’s life when she was just 68, robbing her of the opportunity to watch Bianca grow into a young woman.

I can’t share with my mom the success and many happy moments that she desired for me.

I also miss my father, the “HD warrior” who cared for Carol daily for more than a decade as her symptoms worsened and died with a broken heart three years after her death, in 2009.

Awaiting the gift of a cure

In 1995 we were so young, full of plans and hopes!

Huntington’s disease took away our innocence. In those first months after learning of my mother’s diagnosis, I began for the first time to comprehend mortality and the preciousness of time.

Because of HD, life became something very different from what I imagined it might be.

As I look back on the past 20 years, however, I recognize that for many, with or without HD, a smooth path cannot be predicted. And I recognize that life has brought me many good things.

Unlike my mother, who had no inkling that HD was ravaging her brain, I have had the chance to build a strategy to avoid onset and plan for the many social implications of the disease.

While my mother developed HD before the gene was even discovered in 1993, I live at a time when historic clinical trials might turn HD into a disease that can be managed like diabetes and other conditions.

This Christmas, as I commemorate the birth of Christ, I am thankful that my parents gave me the gift of life.

I look forward to a future holiday season when Huntington’s disease families can rejoice in a cure.

Merry Christmas and Happy Holidays!

Gene Veritas at the San Diego shore (family photo)

At key FDA meeting, Huntington's disease community insists on faster search for treatments

The Huntington’s disease community sent a powerful message to the U.S. Food and Drug Administration (FDA) at the September 22 meeting on HD patient-focused drug development: the agency must do its utmost to facilitate clinical trials and speed the search for effective treatments.

“We discovered the gene – we don’t have a cure,” declared Nancy Wexler, Ph.D., the famed researcher who initiated the search for the huntingtin gene while watching her mother suffer and ultimately die from HD. She addressed the panel of ten FDA officials and audience of some 200 HD family members and advocates at the agency’s headquarters in Silver Spring, MD. “We did that [discovery] in 1993.”

Along with Wexler, two panels of HD family members selected by the FDA to make presentations about the disease and current lack of effective remedies, as well as other participants in the unusually large meeting, described HD’s cruel devastation and the exhausting burden for caregivers.

The Huntington’s Disease Society of America (HDSA), which advocated for the meeting under the new requirements for patient feedback established by Congress for the FDA, sought to provide the FDA with a more tangible and comprehensive view of HD’s reality, all too familiar to affected families.

The FDA doesn’t conduct drug research, but its regulators must approve all clinical trials and new drugs in the U.S.

The plethora of symptoms

Many presenters and audience commenters emphasized the plethora of cognitive, behavioral, and other symptoms involved in HD in addition to chorea, the involuntary movements traditionally but erroneously labeled the key diagnostic signifier of the disease.

“I have all of the symptoms that have nothing to do with chorea,” stated presenter Julie Rosling, 72, of Orange, CA. Forced to retire some ten years ago from her pharmacist job, Julie participated on the five-person panel about the daily impact of HD.

I first met Julie almost 20 years ago in San Diego at the local HD support group, several years before I tested positive for the genetic defect that causes the disease. At most meetings the group had three breakouts: for the affected, caregivers, and untested individuals and asymptomatic gene carriers. Julie and I participated in this last breakout group. Sharing our most intimate fears about HD, we became friends.

I hadn’t seen Julie in a few years. I had long admired her intelligence, profound knowledge of HD science, and healthy lifestyle. My wife and I viewed Julie as a model for avoiding HD and, once her symptoms started, for living with the disease. She has late-onset HD, in contrast with most patients, who experience onset between 35 and 55.

From left to right, Frances Saldaña, Julie Rosling, Reed Rosling, and Gene Veritas (aka Kenneth P. Serbin) (photo courtesy of Frances)

‘I can’t play Chopin anymore’

At the FDA meeting, I was shocked and saddened to see how the disease had, as Julie put it in her presentation, greatly affected her demeanor.

“There are so many different types of symptoms,” Julie said, adding that HD must no longer be seen as just a brain disease. She described how she can no longer drive, suffers from insomnia and gastrointestinal difficulties, and fears choking, a common problem with HD.

“I fall all the time when I go up and down the stairs,” she continued. “The thing that’s the most important […] is that my symptoms are affecting every system in my body.”

Sadly, HD has robbed Julie of many favorite activities. Each December, Julie, a painter, sent out exquisitely designed holiday cards. Several years ago, she wrote in her holiday card that she could no longer paint the cover for her cards.

Those beautiful cards always brought me a glow of hope. I have missed them.

“I can’t play Chopin on the piano anymore,” Julie said at the FDA. “I can’t walk to the corner and back.”

HD has hampered her social interaction, too, because of her slurred speech.

“My symptoms have never gotten better,” Julie concluded. “They get worse every single day. I am a living example of what this disease is all about.”

Once again, I had looked into the genetic mirror and viewed my own highly probable future decline.

You can watch Julie’s presentation in the video below. To watch other presentations, click here to visit my video album of the meeting.

'I Can't Play Chopin on the Piano Anymore' from Gene Veritas on Vimeo.

FDA ‘blown away’ by turnout

“I think it was a very successful day,” said HDSA CEO Louise Vetter in an interview with me shortly after the meeting. “I’m really pleased with how full the room was, not only from the patient and community side, but also the FDA. They had a full docket of folks who wanted to be in the meeting to listen to the HD community.[…] There were more FDA staff in the room than is typical for a public hearing.”

The FDA’s level of interest demonstrated its “commitment to paving the way for new therapies for HD,” Vetter added. The FDA was “impressed” with the “urgency” and “commitment” of the HD community.

“The FDA was blown away,” she said, adding that the agency at the last minute had to set up a room “three times larger than what they planned.”

FDA regulators at the Public Meeting on HD Patient-Focused Drug Development (photo by Gene Veritas)

Several dozen HD community members participated in the hearing via webcast. In addition, representatives attended from CHDI Foundation, Inc., the nonprofit virtual biotech focused exclusively on the search for HD therapies, and the pharmaceutical industry.

The HD hearing took place in the morning, followed by a Parkinson’s disease meeting in the afternoon. The FDA had initially combined HD and Parkinson’s concerns into a single event, but HDSA convinced the agency to divide the meeting because of significant differences in the two conditions and the different treatment approaches, Vetter explained.

“We had more people than Parkinson’s had planned, and given the difference in prevalence, the FDA really took notice,” she said.

“I’m just so pleased with how many caregivers and family members really came prepared to succinctly share their stories and open up about the impact of the disease and their hopes and wishes. I know that the FDA heard that.”

FDA regulators Leonard Kapcala, M.D. (above) and Peter Como, Ph.D., and Lei Xu, M.D., Ph.D. (below) watch presentations by HD advocates (photos by Gene Veritas)

Still time to submit comments

HDSA requested the hearing as soon as the Congressional mandate for patient-focused feedback to the FDA went into effect in 2012. HDSA told the FDA that it could learn much from HD as a genetic disease, given a clearly identified gene and a community of affected families with a serious need for treatments, including preventative remedies for presymptomatic gene carriers, Vetter noted. HDSA also said HD could be a case study for understanding and treating other diseases.

In addition, HDSA will submit to the FDA survey responses from 3,600 HD-affected individuals and family members regarding the impact of symptoms and desired treatments, Vetter noted in her public comments at the hearing.

The public can provide further feedback to the FDA until November 23, 2015, by clicking here.

Several months after the public comment period closes, the FDA will complete a “Voice of the Patient” report on HD, Vetter told me. HDSA will carefully review the report and provide feedback.

You can watch Vetter make her public comments in the video below.

HDSA CEO tells FDA: Study the Broad Feedback from from Gene Veritas on Vimeo.

Advocating for the presymptomatic

During my brief remarks (audience members got only two minutes per commentary), I told of my mother’s demise, our daughter’s gene-negative status after testing in the womb, and my luck at remaining presymptomatic at 55, well beyond the point where my mother experienced many symptoms.

“I would like to see a medication that prevents me from ever getting any kind of symptoms,” I said. “There’s got to be a really open dialogue with the scientists on the new areas such as gene-silencing.”

I referred to the disappointment among HD advocates that the first gene-silencing clinical trial for HD, by the Carlsbad, CA-based Isis Pharmaceuticals, Inc., is happening outside the United States. (Phase I of the trial started in July in Europe and Canada; click here to read more.) I remarked that some drug company executives think the FDA too inflexible regarding new approaches. I urged the regulators to consider the new biomarkers (signs of disease and drug efficacy) scientists are seeking to measure in the blood, cerebrospinal fluid, and brain measured with new techniques.

Many presymptomatic people don’t get tested “because of the immense fear of the disease and the fact that there are no treatments,” I added during the final round of comments. “There’s also associated with genetic testing and getting your results a lot of suicidal tendencies.”

I recalled my suicidal fantasies from the early years of my family’s struggle with HD, when I saw my mother declining. Those ended after the birth of my daughter, I added.

“The presymptomatic population out there really needs to be part of the conversation,” I urged.

The urgent need for treatments

The FDA regulators, unsurprisingly, offered little comment on the proceedings; they wanted to listen and learn.

After returning home, on September 25 I requested an interview to follow up on the above-mentioned points, and more, including calls from families with juvenile HD patients for JHD-specific approaches to clinical trials and treatments. I have not yet received a response, but will write an update when I learn more.

However, HDSA CEO Vetter recalled for me the nub of her conversation with William Dunn, M.D., a neurologist and the FDA’s director of the Division of Neurology Products, immediately after the meeting. Dr. Dunn had welcomed the participants at the meeting’s start.

“He’s very committed to this,” Vetter said, referring to the search for HD treatments. “He was very impressed, very grateful for the input of the families, and very committed to making sure that, as therapies move forward to FDA consideration, they will be efficient in their review, that the FDA’s not sitting on anything. The last thing they want to do is be accused of keeping something meaningful out of the hands of families. They’re very committed to being very expeditious and thorough.”

Along with many fellow HD family members, I believe that the FDA gained a clearer understanding of our community’s suffering and the urgent need for treatments.

* * *

For the FDA’s recording of the meeting, click here. Be sure to visit my video album for other perspectives expressed at the hearing. For additional photos from the meeting, click here.

For the perspective of Parkinson’s specialist Jeanne Loring, Ph.D., click here.

(Note: HDSA paid for my travel to Silver Spring and a night of lodging. The views expressed in this article are wholly mine.)

HD advocate Katie Moser (left), HDSA CEO Louise Vetter, and advocate Emma Burris (photo by Gene Veritas)

Huntington’s disease patients ‘feel better’ after taking Auspex compound to control chorea in clinical trial

Huntington’s disease patients in a recently concluded clinical trial for a potential new drug to control the disease’s characteristic involuntary movements reported that they “felt better” overall.

The trial showed that the compound reduced chorea substantially and with fewer and milder side effects than a predecessor drug, a significant step, although it does not address the cognitive and psychiatric symptoms of HD nor attempts to be a “cure.”

Auspex Pharmaceuticals, a San Diego biotech firm focusing on hyperkinetic movement disorders and other rare diseases, announced the highly favorable results for the Phase III clinical trial for its substance SD-809 on December 16, 2014.

Like Xenazine, the first ever drug approved by the federal Food and Drug Administration (FDA) for Huntington’s, SD-809 attacks chorea, the involuntary, sometimes dance-like movements caused by HD’s devastation of the brain.

As one of its “endpoints” (research targets), Auspex used the Patients’ Global Impression of Change scale to measure whether patients actually felt better. The patients’ responses showed convincingly that they did, in part as a result of controlling chorea.

“I don’t think that there’s ever been a therapy with patients with HD that has actually demonstrated that patients actually feel better on this type of patient assessment,” Pratik Shah, Ph.D., the Auspex president and CEO, said in an interview at Auspex headquarters on December 23.

“This is something that in the past not everyone has been able to appreciate: the impact of chorea on the life of a patient. We wanted to put in an instrument that really asked the question: ‘Does this matter to the patient? Do you feel better?’ Given the fact that perhaps not everyone outside the HD community really understands the adverse impact of chorea on the life of a patient and their family, this was an important question to assess.”

The trial doctors were asked a similar set of questions about the trial participants. “The clinicians as well saw a favorable result here,” Dr. Shah said.

As a carrier of the HD gene mutation who lost his mother to HD nine years ago this month, I was thrilled to hear the news about SD-809 and to visit Auspex for the second time in recent months. You can watch my reaction in the video below.

Reducing chorea and side effects

Significantly, the clinical trial demonstrated that SD-809 reduced chorea substantially.

“We saw a 37 percentage-point improvement in the SD-809 arm and 16-percent improvement in the placebo arm, so it’s 21 percentage points above placebo,” Dr. Shah said. “This is very robust, when you look at all the historical data [from the Xenazine trial].”

Dr. Shah pointed out that the data are the sum of all the observations made on and by the participants.

“One person can have a two- or three-point reduction and experience great benefit, while a different individual may have the need for a greater numerical reduction,” he said.

According to one analyst who compared the two compounds, the reduction in chorea is about the same seen in the Xenazine trial.

However, SD-809 had fewer and far milder side effects than Xenazine. Both are taken as a pill. Neither attacks the root causes of HD, nor the psychiatric and cognitive symptoms that devastate most HD patients. So such drugs are not a “cure.”

Referring to the study data, cited in a press release on the Auspex website, Dr. Shah affirmed that SD-809 caused low levels of side effects such as depression, restlessness, anxiety, insomnia, sleepiness, irritability, and fatigue. SD-809 caused no problems with swallowing in any of the patients –  2.2% of those trial participants on placebo did experience difficulty with swallowing.

The minimal level of those side effects is important in HD, because the disease itself often causes such symptoms, in particular depression, which appeared to be lower in the SD-809 arm compared to placebo, Dr. Shah noted.

Pratik Shah, Ph.D. (photo by Gene Veritas)

In an assessment of the total motor (movement) score of the standard HD disease rating scale, SD-809 led to improvement – an outcome lacking in the Xenazine trial, Dr. Shah pointed out.

The improvement in this score suggests that movement problems other than chorea could be improving, he added.

Yet another trial measurement showed that participants’ “physical functioning” improved with SD-809, that is, movement required to do daily tasks such as walking and climbing stairs.

SD-809 as seen by HD experts

Ninety individuals took part in the Phase III trial, called First-HD, at 34 sites across the U.S. and Canada. Half received SD-809, half a placebo. All participants had at least moderate chorea. The study was double-blinded: neither doctors nor participants knew who was receiving the drug. This is the most rigorous form of clinical trial. Auspex ran the trial in conjunction with the Huntington Study Group (HSG).

None of the First-HD participants was taking Xenazine at the time of the trial. Auspex and the HSG also conducted a trial known as ARC-HD to study another group of participants already taking Xenazine but who switched the next day to SD-809 for the trial. ARC-HD demonstrated that the switch between drugs did not affect the reduction in chorea and occurred with no serious side effects. In fact, patients shifting to SD-809 had somewhat less chorea, and at smaller dosages, Dr. Shah noted.

“New, safe and tolerable therapies for chorea treatment are clearly needed to make this disease an increasingly treatable condition,” said Samuel A. Frank, M.D., an HSG researcher and principal investigator for First-HD, in the Auspex press release. “The primary and secondary efficacy results from this study were confirmed by the Huntington Study Group independent analysis. These clear and unequivocal results are clinically meaningful and suggest that SD-809 may play an important role in the treatment of Huntington's disease symptoms.”

Dr. LaVonne Goodman, the founder of the Huntington’s Disease Drug Works program and a clinician who has attended to scores of HD patients, echoed the optimistic conclusions about SD-809’s efficacy.

“This drug treats chorea with many fewer side effects associated with tetrabenazine [Xenazine],” she wrote. “And most important it improved quality of life.[…] If this drug lives up to the press release, it could/should replace antipsychotic drugs as primary treatment of chorea in Huntington's disease.”

Although not yet convinced that SD-809 is better than Xenazine overall, the researcher-written website HDBuzz.net affirmed in a generally positive article that the “very well-run” Auspex trials “prove that SD-809 could be a useful new tool to help fight excessive movements in Huntington’s disease.”

How it works

Xenazine’s scientific name is tetrabenazine, a drug discovered in the 1950s. HD-affected individuals used tetrabenazine for decades in Europe and Canada, where U.S. families purchased the drug on an individual basis in person or through mail order. Only in 2008 did it receive FDA approval.

Chemically SD-809 is an improvement on Xenazine. It is deutetrabenazine: a molecule with atoms of deuterium (heavy hydrogen) attached.

“We used in select places deuterium as a building block,” Dr. Shah explained, pointing to a model of SD-809 made by an Auspex scientist.

Dr. Shah explains the structure of SD-809 using a model built by an Auspex scientist. The colors represent the compound’s five atoms: carbon (black), hydrogen (white), oxygen (red), nitrogen (blue), and deuterium (green). In scientific terms, SD-809 (deutetrabenazine) is a VMAT2 inhibitor. (photo by Gene Veritas)

Very much like Xenazine, SD-809 inhibits certain chemical actions in the brain in order to avoid such symptoms as excess dopamine, which can lead to the involuntary movements of HD, Dr. Shah explained.

He added that the addition of deuterium “enabled this molecule to be broken down in the body more slowly and so it sticks around longer.” As a result, the levels of the drug in the bloodstream become “smoother.”

For patients, this means smaller, less frequent dosages and potentially a more optimal performance of the drug, he said.

Applying to the FDA

After the conclusion of First-HD and ARC-HD, over 90 percent of the trial participants (excluding a few who dropped out) entered a follow-up study so that Auspex can further analyze the effectiveness of SD-809 and the compound’s side effects. This ongoing study gives participants access to the compound, including those who were receiving the placebo during the trial.

On January 12, Auspex released additional good news resulting from its ongoing analysis of SD-809: whereas Xenazine’s instructions warn about the possibility of an abnormal, prolonged heartbeat, SD-809 does not cause such a symptom to the point of medical concern.

Dr. Shah stated that Auspex hopes to complete a New Drug Application for HD and SD-809 during the first half of this year. Review of such applications typically takes from six to twelve months, depending on the circumstances.

“We have a huge sense of urgency, especially given these [clinical trial] results, to do everything we can to put the application together as soon as we possibly can,” Dr. Shah emphasized.

Auspex has also submitted for FDA approval a list of possibilities for SD-809’s eventual commercial name.

On January 14, Auspex received orphan drug designation from the FDA for use of SD-809 in Tourette syndrome, another rare movement disorder. The company is currently conducting a Tourette clinical trial.

Last year, Auspex received the same designation for HD. Orphan drug status – for conditions affecting fewer than 200,000 people in the U.S. – provides special incentives for companies to produce drugs for these maladies.

Awaiting a price and revenues

Dr. Shah said that the company has not yet researched the price of the drug.

The exorbitant cost of some orphan drugs has caused deep concern among affected families and patient advocates. Lundbeck, which markets Xenazine, has a program to assist HD families with the high cost of its drug, which can reach $50,000 at the wholesale level for an annual supply (click here to read my previous article on the cost of orphan drugs).

“We remain committed as a company to making SD-809 available to those who need it as much as we can,” Dr. Shah commented.

As a young company that only sold stock publicly for the first time in 2014, Auspex has yet to generate revenues. Investors continue to support the company as it moves forward with clinical trials and new research, Dr. Shah explained.

Xenazine will lose its market exclusivity in August 2015 and become subject to generic competition. This development could put additional pressure on Auspex to market its drug affordably, but, at the same time, furnish the opportunity to stress its compound’s greater safety.

New hope and a platform for future research

“We haven’t had a positive study in HD in many, many years, so it’s really an opportunity to celebrate a success that we’ve seen here and to recognize that this is an important step forward for the field and to kind of spread some good cheer and to have renewed hope for the field,” Dr. Shah concluded about the SD-809 trial. “It is also important for the community to remind the people who don’t know treating chorea does matter. It can affect and does affect people’s quality of life.”

Auspex hopes to use the SD-809 project as a platform for researching possible treatments that attack the causes of HD, Dr. Shah said.

“We’re always on the lookout for what makes sense to invest in there,” he added.

The success of the drug and its acceptance by HD families and clinicians could help provide the revenues needed to fund the new research into better remedies, he said.

Dr. Shah (left) with Gene Veritas (photo by Rachel Kenny, Auspex)

Fighting – and writing – to stay healthy: ten years of 'At Risk for Huntington’s Disease'

Ten years ago today, I launched this blog to explore the depths of living at risk for Huntington’s disease and to unburden myself of the fear of its inevitable symptoms.

Frankly, I did not expect to still be writing at 55.

At that age, my mother had developed chorea (the involuntary movements associated with HD) and was experiencing serious emotional and cognitive symptoms that would soon prevent her from speaking and caring for herself. This year marks the sad 20^th anniversary of her official diagnosis. She died of HD in February 2006 at the age of 68.

I tested positive for the HD genetic mutation in 1999.

I strongly believe that my work on this blog – research, reflection, writing, advocacy, and networking – has helped me delay my own HD onset.

I cannot scientifically prove this, but evidence strongly suggests that mental stimuli and other forms of enrichment can positively affect the course of this disease and other neurodegenerative conditions.

Researchers have told me privately that they believe my mental activity has helped keep me stable. “Keep doing what you’re doing,” they say.

Gene Veritas with his tenth anniversary blog posting (photo by Gene Veritas)

Launching the blog

Life can be an emotional roller coaster. HD families ride the tallest and most twisted one, with HD gene carriers like me facing a terrifying descent into symptoms.

Starting in 2001, I wrote and edited Conquest, the tri-annual newsletter of the San Diego Chapter of the Huntington’s Disease Society of America. However, while revealing the stories of many HD-affected individuals and their families in Conquest, I never wrote about my own family’s plight.

I started At Risk at the urging of Norman Oder, a fellow Yale University graduate and colleague at the Yale Daily News.

As a young journalist in the 1980s, Norman by chance wrote an article about a New York area HD family. After we reconnected years later, he edited some of my Conquest articles. Coincidentally one told the story of that same family, part of which had moved to California.

In the early 2000s Norman and I brainstormed about how to increase media coverage of HD, including my own story, as a way to strengthen the cause and attract potential donors.

With that goal in mind, I initiated the blog to address the many complex issues faced by presymptomatic mutation carriers like me as well as untested at-risk individuals.

I didn’t realize at the time how much it would help me sort out my thoughts, engage with others in the HD community, and nudge HD activism. In February 2011, I examined this blog as an advocacy tool during my keynote of the Sixth Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc. In June 2011 I was named HDSA’s Person of the Year, an honor I never could have achieved without this forum. “I know, too, that this award is not just for me,” I wrote, “but for everybody affected by HD: the at-risk, the gene-positive, the symptomatic, the families, and the unsung heroes of America, the caregivers.”

From the start, Norman has applied his editing skills to virtually every article, almost always sending back revisions within a few hours. He has also suggested a number of topics and pushed me toward rigor when it’s tempting to just hope.

Norman is my “HD alter ego,” and a great friend.

(Later in 2005, Norman began his own long-running blog, a daily account of Brooklyn’s most controversial real-estate project, now called Atlantic Yards/Pacific Park Report.)

A stalwart supporter of my activism, my wife Regina has reflected with me on the content of numerous articles. Our daughter Bianca has witnessed me writing and posting articles. Now a teenager, she has a record she can consult of her grandmother’s demise and her father’s writing and coping strategies.

Explicitly and implicitly, Regina and Bianca permeate the pages of this blog. More than anything else, their presence and love motivate me to fight HD and to improve as a husband, father, and human being.

Gene Veritas (left, aka Kenneth Serbin), Norman Oder, and Regina Serbin (photo by Bianca Serbin)

Bringing hope

In that first year (2005), I wrote 17 articles. However, over the next three years I could only write 18 articles. I was distraught over the death of my mother from HD. I even acted out HD symptoms.

During those first four years, I focused primarily on my family’s struggles to care for my mother and how living with the gene affected my feelings and life.

With the help of my psychotherapist and a more effective set of medications for depression and anxiety, I started to turn the corner in late 2007.

In late 2007 I also wrote my first blog article about the potential of stem cell research for finding HD treatments. Along with other southern California advocates, I set up the very first presentations about Huntington’s disease before the state’s stem cell agency.

From that point on, the hope for treatments buoyed me emotionally and became a frequent theme of At Risk for Huntington’s Disease.

Expanding the research updates that I wrote for Conquest, I started doing on-the-scene reporting and in-depth interviews with researchers. In April 2008, I visited Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA, to produce an article on the company’s ambitious efforts to stop HD very close to its genetic roots.

This year Isis will conduct the long-awaited Phase I clinical trial to test its potential gene-silencing drug.

Broad coverage

The blog expanded to cover many of the difficult issues impinging on the HD community, including abortion; advocacy for a congressional bill to update the government’s disability criteria for HD;  the difficult discussions young at-risk people face during dating; and the challenges of finding adequate nursing home care for HD patients.

“I really absolutely admire your bravery in exposing this disease in a realistic and unapologetic way,” wrote Stella, another HD blogger, in a comment on one of my articles. Such comments help keep me going.

Writing the blog helped me think through the process of going public about my HD status after nearly 15 years of advocating anonymously and seven years of blogging under the pseudonym “Gene Veritas,” which I maintain as a symbol of our community’s fight for the cure.

Now, as I meld my HD advocacy with the career of Kenneth P. Serbin the professional historian, I have come to view the blog as a primary historical document of the “new and harrowing human experience of living in the gray zone between a genetic test result and onset of a disease.”

An emotional vent

Above all, the blog is an emotional vent.

With you, my readers, I can share my feelings about facing a terrible, currently untreatable disease, build forces to defeat the profound stigma surrounding HD, and bolster advocacy to improve care and seek the cure.

Through At Risk for Huntington’s Disease – and the HD community I have reached on Facebook – I have gained many new brothers and sisters determined to survive HD and passionate about the noble aim of bettering humanity by solving a major medical and scientific puzzle.

Often, producing articles for the blog envelops me for hours and sometimes days as I research, travel, photograph, shoot video, write, revise, and post, and then engage with readers via e-mail and social media.

Sometimes I go to bed too late – not good for someone at risk for a disease that disturbs the body’s natural rhythms.

As I prepare to post an article, I experience a torrent of emotion, followed by a deep sense of relief.

The memories of twenty years of dealing with HD come flooding back, but in the end I have hope.

Awaiting effective treatments

This article is posting number 197 in At Risk for Huntington’s Disease.

I am grateful that very soon I will be able to post number 200.

Tonight I will raise a glass to the blog.

I know it’s still a long shot because of the inevitability of HD symptoms, but I want to remain healthy long enough to write the article celebrating the discovery of a treatment so effective that I can stop worrying about HD and retire the blog.