The wholehearted embrace: my first HDSA convention

For the first time since learning in 1995 that I was at risk for Huntington’s disease, I participated in the annual convention of the Huntington’s Disease Society of America (HDSA).

Despite my heavy involvement in HDSA-SanDiego, I hadn’t previously attended a national convention, even when the event took place in my home city, because of annual research trips to Brazil, my focus as a historian.

Last year I strongly wished to attend the June convention in Minneapolis, where I was named the 2011 HDSA Person of the Year, only to cancel the trip at the last minute after falling ill. I was crestfallen.

This year I finally made it (!), driving with others from San Diego to Las Vegas for the 27^th Annual Convention at the Red Rock Resort (June 8-10).

Though I flew back to San Diego the evening of the first day in order to watch my 11-year-old daughter sing in public for the first time and therefore missed the rest of the event, the trip meant a lot. I took my biggest step yet out of the “HD closet,” took stock of my long years of struggle, and made important new connections for the future.

Reflecting on HD’s tough reality

The convention atmosphere put me in a deeply reflective mood. After meeting Jenny Rogers of the host Las Vegas affiliate of HDSA, which operated an information table in the registration area during the day before the official opening, I returned in the evening, when nobody was around, to learn about her family’s struggles with HD, as told in pictures, letters, and a newspaper article attached to a poster.

I was profoundly shocked to read that Jenny’s mother had committed suicide in 2000 after Huntington’s had begun to rob her of her physical and cognitive capabilities. A teenager at the time, Jenny discovered her mother’s body lying on the floor in the bedroom of her home.

“I’ll be an angel watching over you,” wrote Jenny’s mother in her suicide note. “I did the best I could, but I just didn’t have any strength to cope with life anymore.”

Once again, a Huntington’s story cast a pall of sadness over me. I pondered how this disease relentlessly assaults families and destroys dreams.

Like me, Jenny is gene-positive for HD. She faces the onset of symptoms in the next couple decades, the prime of life. (Learn more about Jenny’s story by clicking here.)

I returned to my room, turned off the lights, and gazed at the night skyline of the Las Vegas Strip. As I admired its magnificence, I recalled the shortness and fragility of life – a reality intensified a thousand times in the HD community.

An upbeat opening

For me, the morning was more upbeat.

During the opening ceremony, Jenny welcomed the convention-goers assembled in the main hall. HDSA Chairman of the Board Don Barr addressed the audience. Nora Guthrie, the daughter of HD-stricken folk singer Woody Guthrie and HDSA founder Marjorie Guthrie, greeted the convention via a recorded video, in which she reminded us that this year marks the 100^th anniversary of Woody’s birth.

Also via a recording, Social Security Administration (SSA) Commissioner Michael Astrue addressed the audience about the HD community’s important victory, in the form of the SSA’s announcement in April that juvenile HD benefits applications would be fast-tracked starting in August (click here to read more).

HDSA CEO Louise Vetter presented a measuredly optimistic “State of the Society” address, in which she outlined the organization’s recently unveiled five-year strategic plan.

The meaning of HDSA

At the end of the ceremony, I joined HD advocates Ted Krull and Shana Martin on a panel titled “We Are HDSA.”

Ted recalled the life of his deceased daughter Emily, whose battle against juvenile HD inspired Ted and his wife Carla to push for passage of The Huntington’s Disease Parity Act, a pending bill in Congress that would more quickly bring Social Security and Medicare benefits to affected individuals.

Emily Krull (family photo)

Shana, a model, lumberjack athlete, and fitness competitor, told the story of her mother’s ongoing struggle against HD, her involvement in HDSA’s National Youth Alliance, and the use of her athletic prowess to raise awareness of HD.

To the audience of several hundred people – the largest HD crowd to which I’ve spoken – I told my story, revealing the true identity of Gene Veritas. My family was the reason for my involvement with HDSA, I said. And while my mother died of HD and I tested positive for the genetic mutation, my daughter, our gene-negative “miracle baby,” thrives as she prepares to enter the seventh grade in the fall.

She and I are both “addicted to writing,” I said. For a class project, and using my at-risk status as an example, my daughter recently sent letters to 35 U.S. Senators urging them to reverse their opposition to health care reform. Using my writing talent, I said, I’ve produced the HDSA-San Diego newsletter and more than 130 articles for this blog.

However, not one of my newsletter or blog articles has carried my real name as the author, I pointed out.

Now, more than ever, I’m taking off the mask of Gene Veritas and exiting the terrible and lonely HD closet – a closet in which so many families remain hidden because of fear of genetic discrimination.

Explaining that HDSA has provided me with the necessary support to carry out my struggle against HD, I highlighted the organization’s meaning for me by summing up its mission in words beginning with the four letters of its acronym: Hope (through its support services), Determination (to find treatments), Solidarity (togetherness as the key to beating the disease), and Awareness (about the need for public advocacy and of the HD community’s key role in the larger battle against neurodegenerative disorders that will afflict millions in the coming decades).

You can watch a recording of our three presentations by clicking here.

Ted Krull (left), Shana Martin, and Gene Veritas

New allies

After the opening ceremony, I sought to meet online friends in person for the first time, as well as connect with new allies in the movement.

I spoke to one young brave man, a regular reader of this blog, who bears a double hardship: years ago a traffic accident left him paralyzed from the waist down, and later he tested positive for HD. “We are brothers,” he told me after an intense conversation about many aspects of HD.

Meeting him helped me put my own situation in perspective: compared to some, my burden is light.

I ran into another online acquaintance with an HD-stricken wife and daughter whose symptoms began much earlier than her mother’s.

In the exhibit hall, I signed and photographed the banner filled with messages of thanks to Congressman Bob Filner of San Diego, the original sponsor of the HD Parity Act.

Volunteers hold "thank you" banner to be presented to Representative Bob Filner (photo by Gene Veritas).

Three-year-old Kayden Bujnowski scrawled her own message on the banner, then posed for me.

When I heard that Kayden’s mother Heather Lewis has HD, and that Kayden has a 50-50 chance of inheriting the mutation, I gasped and thought, “No, not another family!”

To contribute further to awareness, Heather and her husband Jason Bujnowski graciously allowed me to take a family photo.

Above, Kayden Bujnowski blows a kiss from the HD Parity Act banner. Below, Kayden with mom Heather Lewis and dad Jason Bujnowski.  (Photos by Gene Veritas)

A new HD sister

After my morning presentation, I had only a few hours before catching the shuttle to the airport. I felt bad explaining that I needed to leave early, but everybody immediately supported my decision when they heard about my daughter’s performance.

After spending much of the past month on the road (North Carolina, Ohio, New York City, and New Haven) advocating for HD, I did not want the fight against HD to rob me of this precious moment. At 52, now in the range of years when my mother’s symptoms hit, I must strike a healthy balance between advocacy and the rest of my life.

I decided to spend my last half hour at the convention sitting next to a woman with HD. She was about my age. She had pronounced chorea (the dance-like movements caused by HD), and, like so many other HD people, was emaciated.

I struck up a conversation with her and the HD social worker sitting next to her. To my relief, the HD woman could take part in the dialogue – an ability my mother lost almost completely as the disease progressed.

The woman’s husband appeared and sat with us.

The three of us talked about HD.

The woman asked for her pills, about a half dozen, which she took one by one with drinks of water from a sipping cup. She dropped one of the pills, but her husband rescued it from the floor.

To my great satisfaction, the woman told me that she read my blog. She thanked me for it.

“Keep writing,” she said.

“Keep reading,” I responded.

It was time to catch the shuttle.

Summoning up her strength, my new sister rose to hug me.

We embraced for a few moments. Our bodies seemed to fuse into one sensation of fear, but also of love and hope.

I had never embraced an HD person so wholeheartedly – perhaps not even my own mother.

Back in San Diego, I realized that this was a symbol: I also had wholeheartedly embraced my role in the HD cause in a new way.

Yale’s partnership against Huntington’s disease: an alumnus reconnects and finds hope as scientists pursue ‘Viagra for the brain’ and other solutions

The revelation in 1995 that I was at risk for Huntington’s disease, followed by my positive genetic test for HD in 1999, thrust me into a role as an activist, a journey to understand the biotechnological frontier, and a fight for my life.

However, for many years, and even after “coming out” in a major speech to scientists in February 2011, HD has remained my radioactive semi-secret because of the stigma surrounding the disease and my fear of genetic discrimination.

In those early years of confronting HD, I needed to open up to someone – and to seek help for the cause. Beyond some branches of my family and my local HD support group, I turned to the people I trusted most: fellow Yale University alumni, some close friends, others within a circle of trust. Many lent a sympathetic ear, offering donations, contacts, and advice.

Above all, they helped me feel less lonely inside the terrible “Huntington’s closet.”

Dr. Martha Nance, a neurologist in Minneapolis dedicated to finding treatments for HD, became one of my closest HD confidantes. Brooklyn-based journalist Norman Oder suggested the idea for this blog. Editing nearly every article, Oder has become more than a friend: he is my Huntington’s alter ego.

Dr. Martha Nance and Gene Veritas in San Diego, 2007.

Yale’s seal, which includes the Latin phrase “Lux et Veritas” (light and truth), echoed in my choice of an HD pseudonym, “Gene Veritas,” the “truth in my genes.”

Now, in a way I would never have imagined, I have come to rely on Yale itself in my fight against HD.

At the CHDI Foundation’s Seventh Annual HD Therapeutics Conference, held February 27-March 1 at the Parker Palm Springs in Palm Springs, CA (a hotel owned by fellow alum and real estate developer Adam Glick), I heard exciting news about how scientists in the Yale School of Medicine will help prepare the way for clinical trials of potential therapies.

(Backed by a group of anonymous donors, the non-profit CHDI once stood for “cure Huntington’s disease initiative” but today simply represents the name of the foundation, which focuses exclusively on the search for HD treatments.)

In my unrelenting drive to translate HD science into understandable terms, I dubbed these compounds “Viagra for the brain,” a phrase that refers not to the salacious aspects of the famous drug but to these compounds’ biochemical similarity to Viagra.

I also decided to visit the scientists’ labs to deepen my understanding of their crucial work, to offer my assistance, and to give myself a shot of much-needed hope.

Below, watch my short introductory video of the visit.




An emotional return to New Haven

I had returned only twice to Yale – in 1983, a year after graduation, and, during a memorable cross-country trip with my wife and daughter in 2010 in my effort to enjoy life to the fullest before the inevitable symptoms of HD set in.

This time I arrived in New Haven on May 28 after a two-hour train ride from Manhattan.

That evening, walking through the Yale campus almost 30 years to the day after I graduated, I experienced a flood of memories – some painful, some hilarious, and many, many warm and wonderful.

I remembered the sacrifices my grandparents and parents had made to help me to attend one of the world’s top institutions of learning. I recalled how, as the grandson of immigrant grandfathers and the son of working-class parents, I strived to reach the top academically and then professionally.

As I peered into the darkened windows of the Yale Daily News, where I served as a reporter, I wondered whether my 12-year-old daughter, who writes well and recently sent letters to 35 U.S. Senators about my plight and the need to reverse their opposition to health care reform, might herself someday become a journalist. I imagined the two of us critiquing news articles together. She’s finishing up sixth grade this month, and she says she wants to attend Yale. I imagined her striding confidently through the offices.

It seemed almost yesterday when I walked to classes and debated and laughed with friends in the dining halls of the university’s grand gothic buildings. Once imposing, they no longer felt intimidating. Life is fast, I thought with a tinge of sadness.

My life was abruptly sidetracked by HD. My mother died in 2006, and my father, with a broken heart, followed her in 2009. I wondered: will HD prevent me from helping my daughter apply for college and begin her own path in life?

Yale has generated many of America’s leaders, and it inspires leadership in various ways. I pondered how I had to rise, along with many others, to an unexpected leadership role in the fight against the disease. And I reminded myself that I must do my part to keep the flame of leadership burning, within myself, for as long as I can; within my family; and within the HD movement.

Back in my hotel room later that evening, I prepared for the next day’s emotionally charged meetings at the School of Medicine. It was a place I didn’t go to as an undergraduate, I thought, and represented a new phase in my HD activism, in my relationship with Yale, and in my life. These scientists could help save me.

Catching the disease early

As part of a global effort to eradicate HD, the Yale scientists will play an important role in investigating some of the disorder’s mysteries and in seeking effective treatments. The university’s faculty in neuroscience, neuropharmacology, and other fields provide a supportive context for this work.

Two of the scientists, Hoby Hetherington, Ph.D., and Doug Rothman, Ph.D., are starting groundbreaking work on important facets of HD.

Dr. Hetherington will apply his knowledge of epilepsy, brain trauma, and brain scans to study an energy deficit in HD resulting from insufficient adenosine triphosphate, the basic fuel for our cells.

Using Yale’s 7 Tesla MRI scanner, one of only a few dozen in the world with ultra-powerful magnets, Dr. Hetherington will scan humans using a method called MRSI (magnetic resonance spectroscopic imaging).

Dr. Hetherington hopes to determine whether the energy deficit in HD is a cause or an effect and, in the process, to produce a clearer picture of the disease as it actually occurs.

MRSI involves the MRI machine augmented with two pieces of additional equipment – a head detector and shim insert – permitting him to track the energy deficit by obtaining clear, high-resolution images of study participants’ brains.

As Dr. Hetherington explained, the detector allows him to adjust the readouts of each scanned individual’s brain by accounting for distortions in the magnetic field caused by the presence of the head. It also accounts for the heat generated by the head. Using the detector, he can contour the magnetic field and also pick specific regions of the brain to excite.

Dr. Hetherington’s lab designed and built the first generation of the detector and continues to develop and test new versions of the device. The detector is now in commercial development for more widespread use.

Dr. Hetherington will use the detector in his planned study of gene-positive, asymptomatic HD people like me.

Dr. Hoby Hetherington places a special head detector in the 7 Tesla MRI scanner in his lab at Yale University (photo by Gene Veritas).

Dr. Hetherington explains the innards of the head detector (photo by Gene Veritas).

To compensate in yet another way for distortions in the scanner’s magnetic field, Dr. Hetherington employs the shim insert, which he also helped to design. Like a common shim used to straighten objects in woodwork or masonry, the shim insert levels out the scanner’s magnetic field. He uses the shim to do the opposite of what the head of the scanned individual does to the field. This makes the field uniform and thus easier to read.

A standard scanner shim typically can do eight adjustments, Dr. Hetherington explained. Yale’s can do about 30.

This shim will play an important part in Dr. Hetherington’s HD scans, in which he will examine areas of the brain (such as the basal ganglia) where distortions are created by the presence of the sinuses and the ear canals.

Dr. Hetherington and the shim insert (photo by Gene Veritas)

Dr. Hetherington explains an actual anatomical image of the brain obtained from the 7 Tesla scanner (photo by Gene Veritas).

“It’s catching the pathology before it’s become lethal or progressed,” Dr. Hetherington said of his lab’s technology during my visit while showing me images from an epilepsy study. “That’s the idea of trying to have an early marker of what’s going on. If the cells have died already, the structure gets small. You can see that on standard anatomical imaging, but that’s kind of too late.”

Boosting creatine

Looking ahead 50 to 100 years, Dr. Hetherington speculated that patients with brain-based disorders such as HD and epilepsy may take a common drug to correct the problems they cause in bioenergetics.

Dr. Hetherington explained that the HD study will seek to measure phosphocreatine levels in the brain. Brain cells produce phosphocreatine, which is essential in bioenergetics, from creatine, which is also created by the body and can be taken in the form of a supplement.

Beginning with my participation in the Huntington’s Disease Drug Works (HDDW) program, I have taken creatine for nearly a decade in an effort to stave off symptoms. Creatine is currently under study in an HD clinical trial. (Click here to read more about HDDW founder Dr. LaVonne Goodman's latest assessment of creatine and other supplements.)

“If you can boost the whole pool (of creatine), you’ll have more phosphocreatine around,” Dr. Hetherington said of the theory behind creatine supplementation.

Paralleling mice and humans

Supported by CHDI, Dr. Doug Rothman, Ph.D. a pioneer in the use of magnetic resonance spectroscopy (MRS) and the Director of Magnetic Resonance at Yale, will employ MRS to examine another kind of energy deficits in the mitochondria, the powerhouses of the cell, in transgenic mice.

HD patients often need a higher-than-average caloric intake.

Rothman’s work could provide important clues as to how Huntington’s kills brain cells – and what treatments might stop it. He hopes to extend the experiment to humans, beginning with a 4 Tesla scanner and perhaps later using the 7 Tesla scanner and its accessories.

“It’s really important to keep an eye on what are the relevant aspects of a mouse model,” Dr. Rothman commented, noting that transgenic animals can manifest symptoms differently than humans, and that the mitochondria are more evolved in humans than in mice. “The only way to do that is to really explore, hopefully in parallel, what’s happening with human subjects.”

Dr. Rothman at work in his office (photo by Gene Veritas)

Alleviating symptoms, strengthening the brain

Also with support from CHDI, two other Yale research groups will assess compounds that, if successful, would improve memory and cognition, arrest some of the psychiatric symptoms, and act as neurotrophins, so-called “fertilizers” for the brain. At least one of these neurotrophins (BDNF, brain-derived neurotrophic factor) is severely deficient in HD.

As noted above, I dubbed these substances, developed by Viagra producer Pfizer, “Viagra for the brain” because the substances belong to the same class of drug as Viagra, an inhibitor of an enzyme known as a phosphodiesterase (PDE).

Although targeting different PDE families than the PDE-5 targeted by Viagra, the biochemistry is very similar. Essentially, the new compounds are cousins of Viagra, aiming to inhibit other PDEs.

The Yale scientists will test these compounds in collaboration with CHDI’s “drug hunters” and Pfizer. One coordinator of the three-way partnership is Ladislav Mrzljak, M.D., Ph.D., CHDI’s director of neuropharmacology and a former postdoctoral fellow in Yale’s Department of Neurobiology.

Scientists hope that inhibition of PDEs will compensate for some of the changes occurring in HD.

With new research showing that some PDE inhibitors reverse symptoms in mice, CHDI and Pfizer recently began collaborating with the ultimate goal of taking them into clinical trials.

“There are currently no PDE inhibitors marketed for central nervous system diseases,” Christopher Schmidt, Ph.D., a senior director at Pfizer, explained. “This is new territory.”

Mihaly Hajos, Pharm.D., Ph.D., a former Pfizer scientist and neurophysiologist with a background studying schizophrenia and Alzheimer’s disease, aims to detect whether the same inefficient use of the brain’s information processing (a so-called “auditory gating deficit”) that occurs in humans with HD also occurs in mice and rats genetically engineered to have the disease. If so, Hajos will then test PDE inhibitors as a remedy.

The experiment also could validate the electrical signals as a good biomarker, or measure, of the inhibitors’ impact on people.

Dr. Mihaly Hajos (center) with assistants Elizabeth Arnold and Dr. David Nagy (photo by Gene Veritas)

Studying nonhuman primates

Another project involves the husband-wife team of Graham Williams, D.Phil., and Stacy Castner, Ph.D., neuroscientists in the Department of Psychiatry who are specialists on schizophrenia and substances known as “cognitive enhancers.” The duo will test the effects of PDE inhibitors on cognition in normal, healthy nonhuman primates. These subjects contrast sharply with the transgenic, diseased mice, rats, flies, and even sheep and pigs used in other Huntington’s research.

“We can’t be dependent on the genetic model,” Dr. Williams explained, emphasizing the need to view the disease and the effect of potential drugs from various perspectives.

If the inhibitors work, Drs. Williams and Castner will submit the animals to harmless brain scans using FDG-PET to localize areas of the brain affected. These measurements could help predict the impact of the inhibitors in humans.

Successful studies in the nonhuman primates could help to accelerate the process of getting the inhibitors into human trials and ultimately approved as drugs, a process that could take five to ten years.

The PDE inhibitor projects seek ways to intervene early in the disease, before disabling symptoms occur. The potential therapies could help prolong my life and the lives of tens of thousands of gene-positive and symptomatic individuals.

A key workshop: from animals to humans

On May 31 and June 1, I observed yet another aspect of Drs. Williams and Castner’s research by participating with them in a CHDI meeting in Manhattan titled “Translatability of Cognitive Readouts Workshop.” With some two dozen participants and organized by Dr. Allan Tobin, one of CHDI’s two chief scientific advisors, the workshop aimed to help CHDI move from testing of potential treatments in animals to human clinical trials.

Dr. Mrzljak also took part, as did Dr. Ethan Signer, CHDI’s other chief scientific advisor, Dr. David Howland, director of in vivo biology, and Dr. Beth Borowsky, director of translational medicine. Robi Blumenstein, the president of CHDI’s sister management firm, kicked off the meeting.

CHDI will release the conclusions of the workshop in the near future. Watch my short interview about the meeting with Dr. Tobin in the video below.



The workshop was quite intense and intimate, to say the least. Sitting at a table with one another for eight hours on two consecutive days, and sharing dinner and drinks in lower Manhattan the evening of May 31, we formed new friendships and professional relationships. Dr. Tobin purposely plans the workshops in this way to extract the maximum of candor and new ideas.

I was invited to the meeting as an “observer.” I thought I would quietly sit in the back and take notes.

However, to my surprise, Dr. Tobin seated me at one of the heads of the workshop table. Just before the event began at 9 a.m. on May 31, he asked if I would mind sharing my story with the scientists, and to be “interviewed” by Dr. Julie Stout, an American HD researcher based in Australia.

A number of the invitees, such as Drs. Williams and Castner, had devoted their careers to non-HD conditions and questions, so for many in the room I was a first contact with a person from an HD-affected family.

What I expected to be a few minutes of introduction to the disease turned into a 90-minute discussion about the many social ramifications of the disease. In an effort to contribute to the questions of translatability and cognition, I described such symptoms as my mother’s depression, her loss of the ability to work, her inability to interact with her granddaughter and other family members, and the ways in which our family and her physicians attempted to deal with her symptoms. I also spoke about the fear surrounding genetic testing.

Dr. Stout commented that telling my story helped the scientists understand what it’s like to live with HD. Scientists, she observed, need the collaboration of those confronting HD in the quest for solutions.

At the end of the workshop, I thanked Dr. Tobin, CHDI, and the scientists for allowing me to share my story – which, I pointed out, was just one of thousands of such stories one could hear from the HD community.

CHDI translatability workshop participants, with Gene Veritas standing in back of room (photo by Jerry Turner, CHDI)

Yale and the big picture

Together with CHDI and Pfizer, Yale scientists will furnish pieces of a very large and complex Huntington’s puzzle currently under study by researchers throughout the world in academic labs, pharmaceutical companies, and medical clinics. CHDI, as well as governments and other organizations, supports many of  those projects in producing what most scientists project as an “HD cocktail” of therapies for managing the disease and allowing those affected to lead normal and productive lives. (Scientists don’t speak of “curing” HD, because of its immense complexity and the fact that the defective gene cannot be removed from the body.)

The path, however, isn’t simple. At Yale, Drs. Hetherington and Rothman voiced concern about the potential lack of volunteers for their research involving brain scans. Indeed, stigma and other factors threaten to leave scientists with too few research participants in which to adequately test drugs for safety and efficacy. Tragically, the drive to halt Huntington’s could stall. I pledged to help spread the word of the scanning studies in the Huntington’s community.

In the quest for treatments, scientists and patients depend on each other. Likewise, the many disease communities share a mutual goal. By helping to solve Huntington’s, Yale’s scientists will also assist those fighting Alzheimer’s, Parkinson’s, and many other conditions that afflict millions – as well as the estimated tens of millions of victims of thousands of other genetic and orphan conditions, the focus of Yale’s new Center for the Study of Mendelian Disorders.

Yale, its alumni, and its scientists have lent an enormous hand in my family’s fight. I have already gained strength and support from a network of Yale ties. Someday I may take a Huntington’s drug tested in a Yale lab.

The place that ignited my intellectual passion and launched me into life once again holds one of the keys to my future. This is the American university at its best – engaging in cutting-edge drug discovery, aiding a community long beleaguered by stigma and hopelessness, and affirming life.