Fear of onset: the inescapable reality of the Huntington’s disease gene carrier

As a carrier of the devastating and ultimately deadly genetic mutation for Huntington’s disease, I have worked hard to live as normally as possible. This blog is replete with examples of coping strategies and ways in which I have strived to balance work, leisure, family, and HD advocacy.

At 54, my HD-stricken mother was rapidly declining, heading towards a troubling and terrible death at the age of 68. Today, at 54, I continue to enjoy the gift of good health – the major reason I can often feel “normal.” Scientists are searching to discover the reasons for the wide variability in the age of onset observed in people, like my mother and me, who have the same level of mutation.

Yet my fear of onset often creeps back in.

Recalling a time of innocence

The past few weeks I’ve been so busy with the “normal” that I’ve had no time to write in this blog.

At work, I’m transitioning from five-and-a-half years as departmental chair to a year-long sabbatical, during which I aim to write a long-gestating book on the history of former Brazilian radicals now in positions of power. I’m also teaching an intensive, three-week summer session course on the history of Mexico. The next year promises to be an engaging, challenging time.

The transition has required an understandably disruptive move to a new office, but also allowed me to dispose of unneeded books and papers.

As I rummaged through old files and letters, I found myself reminiscing about the seemingly innocent period of my life before Huntington’s struck my mother.

It would be great, I thought, not to have to worry about onset. Without the threat of HD, which led me to expand my scholarly endeavors into the history of science, technology, and medicine, I could once again focus exclusively on the history of Brazil.

Watching for early symptoms

I’m also working out the logistics for my upcoming trip to the University of Iowa in Iowa City for my follow-up participation in PREDICT-HD.

An “observational study of the earliest signs of Huntington’s disease,” PREDICT-HD has aimed at creating key standards for predicting onset and measuring the rate of disease progression.

I’ll be staring onset in the face – and wondering about my performance on the battery of tests.

A visit to Auspex

I discussed my fear of onset and reiterated our community’s urgent need for effective treatments in an intense, 80-minute get-acquainted conversation last week with Pratik Shah, Ph.D., the president and CEO of Auspex Pharmaceuticals.

An investor-funded San Diego firm focused exclusively on central nervous system disorders and orphan diseases, Auspex struck me as made-to-order for the fight against HD. It is currently conducting clinical trials for a drug called SD-809, aimed at treating chorea, the involuntary abnormal movements produced by HD.

SD-809 (dutetrabenazine) is a potentially improved version of tetrabenazine, a chorea treatment currently marketed by the pharmaceutical company Lundbeck under the name Xenazine. If SD-809 works as intended, it will require fewer dosages and produce fewer side effects than tetrabenazine.

However, tetrabenazine does not affect the root causes of HD, nor is SD-809 expected to.

Auspex seeks to use SD-809 as a platform to research and develop drugs that would attack those causes.

Dr. Shah and I agreed to schedule soon an interview so that I can write an in-depth article on Auspex’s efforts.

I told Dr. Shah about a middle-aged, HD-afflicted man I had met who had maintained much of his cognitive abilities but suffered from strong chorea. However, tetrabenazine controlled the chorea, enabling him to keep driving, something most HD patients have to give up.

Tetrabenazine’s approval by the Food and Drug Administration had come too late to benefit my mother, who died of HD in 2006. I told Dr. Shah that she had taken another medication to control her chorea, which was relatively mild, although she had initially had strong chorea in her legs at night. In general, chorea was the least of my mother’s problems with HD, which devastated her cognitive abilities and caused serious psychiatric difficulties.

I also related my recent conversation with a former HD support group colleague who has had symptoms for a number of years.

Speaking to a symptomatic individual, I pointed out, provides me a terrifying glimpse of my own future.

A powerful HD dream

As I processed these latest events in my journey with HD, my unconscious mind produced a powerful dream.

I awoke from the dream at 5 o’clock on Sunday morning. Afraid that I would forget its content, I went to my home office to type out the details on my computer, and to outline this article.

In the dream, where I am meeting with other asymptomatic HD gene carriers, I encountered the same HD-affected man whom I had mentioned to Dr. Shah.

The people in our dreams often represent aspects of ourselves. In my interpretation, thinking of a symptomatic man in the context of a group for the asymptomatic meant that I was wrestling with the inevitable reality of my onset.

Tapping into the soul

As the dream continues, I fly to New York City on HD advocacy business.

In my hotel room, I start to write a blog article describing the recent HD-related aspects of my life. I have my trusty laptop with me but am oblivious to it. Instead, I write in longhand on a white legal pad. It’s the way I sometimes wrote in college or now write on airplanes or when I’m revising a draft I’ve printed out.

There’s something pure and primal about this form of writing. It’s the way I first learned to write. I’m crossing things out, jotting down ideas, and flipping back and forth through the pages to read and make adjustments. At one point I think that, because I don’t have much time before my evening HD meetings, I’ll switch to the computer. But I want to first eke out some more lines on the pad.

The dream was compelling me to practice the craft I have enjoyed since childhood, to tap into the soul that defines me.

I later recalled the photograph that an HD-affected man posted of himself illustrating his superb kickboxing skills before the disease struck. He wanted to remember himself at the height of his powers.

The dream, I think, reflected my fear that HD will rob me of my writing skills.

A metaphor for facing HD

Later in the dream, I go to a restaurant along with two other asymptomatic gene carriers and my friend, blog editor, and HD alter ego, Norman. One of the gene carriers, I recognize, is the symptomatic man I’d encountered earlier in the dream, only transformed into a healthy individual. On the way there, I give each gene-positive man a bear hug. I feel deep brotherly love towards these men.

A native New Yorker, Norman describes the restaurant as a very different and unique place. He says it’s called Pub Med.

We seem to be on the Upper West Side of Manhattan. Evening is approaching.

The restaurant is made of recently hewn, unpainted pieces of wood, which are also used as furniture: benches and small, round tables. It’s outdoors, located in the middle of a square where I can hear kids playing on swings and moms walking their kids. There are small stores on the edges of the square, too.

But there’s something very strange: the benches and tables are stacked on top of one another in a pyramid-like fashion. They rise about 30 feet. We climb up and look for a place to sit. Norman is sitting with the first gene-positive person while, at another table, the second gene carrier continues to explain to me the nature of this restaurant-structure and how to sit on it without falling.

I'm still standing. However, as I try to sit down, some of the tables and benches near me shift down or fall off suddenly and unpredictably. I’m afraid that I’ll fall off. The second gene carrier seems to know well how to deal with it. He’s experienced and seems to take it all in stride.

As I strive to keep my balance on the structure, I gaze at a different kind of Manhattan skyline. On the horizon, I see some burning buildings. Referring to the restaurant-structure and the buildings ablaze in the distance, I tell the second gene carrier: “I can think of no better metaphor to describe living at risk for Huntington’s disease.”

Building hope, pondering onset

The dream, I think, represented my fight to continue advocating for the HD cause.

Manhattan is headquarters for three key HD organizations: the CHDI Foundation, Inc., the Hereditary Disease Foundation, and the Huntington’s Disease Society of America. Along with other organizations and scientists around the world, they hold the key to finding treatments.

Norman has taken my family and me on a walking tour of Manhattan. He urged me to start this blog. In both the dream and real life, he has acted as a kind of guardian angel in my fight against HD. I believe that the Norman of the dream also symbolizes my own internal editor, who, like the real-life Norman, the author of a richly detailed and public-spirited watchdog blog on Brooklyn's Atlantic Yards project, strives to produce in-depth and understandable reports.

Along those lines, I had told Dr. Shah I would read scientific articles about SD-809 before our planned interview. I believe that the Pub Med restaurant represents my desire to prepare thoroughly for an interview regarding the potentially life-saving work done at Auspex. In reality, PubMed, a well-known research tool, has more than 23 million citations from biomedical literature, life science journals, and online books.

I explained to Dr. Shah that in this blog I seek to provide the HD community with information about potential treatments, breakthroughs, and challenges.

My goal is to provide the community with hope, and advocate for change.

The dream, I believe, also reflected my continued striving for internal equilibrium as I ponder the kind of onset I will experience.

Will I falter like an HD person who can no longer control movements and mind? Will I continue to work and drive? Will I be able to help support my daughter as she studies in college? Will effective treatments arrive in time to at least reduce the severity of symptoms – and prolong my life?

These are the inescapable questions of my reality as a Huntington’s disease gene carrier.

‘Predicting’ Huntington’s disease in the heartland

To develop treatments for a disease, researchers and physicians first need to understand how its symptoms evolve and how they affect people’s lives.

In early August, I traveled to the University of Iowa in Iowa City to donate blood, urine, and saliva samples, undergo a motor coordination exam and brain MRI scan, and perform a battery of cognitive and mood tests for the long-term research study Neurobiological Predictors of Huntington’s Disease, best known as PREDICT-HD, one of the largest public-private research projects in the history of the quest to defeat the disease.

My biological samples will become part of a bio-repository at the National Institute of Neurological Disorders and Stroke (NINDS), a division of the National Institutes of Health (NIH) located just outside Washington, D.C. Researchers from around the world can apply for access to these materials.

In studying gene-positive, asymptomatic people like me, the scores of researchers working at the University of Iowa, 26 other PREDICT centers in the U.S. and abroad, and many other institutions can try to analyze how the early symptoms of HD develop.

They are also seeking to identify HD “biomarkers” in the blood, cerebral spinal fluid (CSF), and brains of the study participants, who include formerly at-risk individuals who tested negative for HD. These individuals serve as a control, or comparison, group to ascertain which changes in the gene-positive people are specifically caused by HD.

Gene Veritas in preparation for PREDICT-HD MRI scan (photo by Sarah Petitt)

With biomarkers and other study data, researchers can effectively measure the effectiveness of potential treatments in upcoming clinical trials.

Patients: study us!

The lead scientist and administrator of the multi-million-dollar PREDICT study is Jane Paulsen, Ph.D., the co-director of the University of Iowa Huntington’s Disease Society of America Center of Excellence and Professor of Psychiatry, Neurology, Psychology, and Neuroscience. From 1991-96, she was a postdoctoral neuropsychology fellow at the University of California, San Diego (UCSD), where she directed the HD clinical research program and came into close contact with the local HD community.

“The desire to move towards earlier detection and identification was really brought forth at UCSD from the families,” Dr. Paulsen recalled in an August 6 interview. Such families, she noted, told her: “‘You know, I’ve been dealing with this for years, and it isn’t validated by the professional community. I don’t have a diagnosis. A lot of people just think I’m exaggerating.’

“So just that sense of so many people who are at risk, who might be having subtle symptoms. When we would see them, we could detect maybe cognitive or certainly emotional changes that might occur. There’s a lot of stages that occur before you get the motor signs and diagnosis.

“So the whole PREDICT project was sparked by families in San Diego saying, ‘I’ve seen this forever, and we need to detect it sooner, before I lose my job or blow up at my kids or I don’t take care of my home responsibilities the same or my friends don’t understand me the same or my family doesn’t understand me the same. If we could move it back and better understand it, then we could maintain all those additional components of my life.’ So that was really the motivating factor – trying to get people to look at it this presymptomatically, before that diagnosis.”

The decision to start PREDICT occurred in 1998 at an executive meeting of the physician-researcher collective known as the Huntington Study Group, of which Dr. Paulsen was a founding member. PREDICT formally began in 2001.

With its focus on the asymptomatic, PREDICT could help identify and test preventative treatments – the “holy grail” of HD research.

“Eventually, when they have a treatment, we want to intervene as soon as possible, because the sooner we intervene in the brain, the less tissue loss, the less dysfunction, the less toxicity has occurred,” Dr. Paulsen explained. “Even if we slow it 15 percent, which is all that they’ve done in other brain diseases, since HD lasts so many years – we’re thinking 40 years now – 15 percent could be many years where you could maintain a higher level of functioning.”

You can watch the entire interview with Dr. Paulsen in the video below.

Maximizing research

PREDICT seeks to “maximize” HD research, Dr. Paulsen said. “We work with anybody who wants to work on a particular aspect of the disease.”

As the PREDICT flagship, the University of Iowa has collaborated with its sister PREDICT centers and also partners and subcontractors at other academic institutions in the U.S. and abroad. The partners focus on cognitive testing, brain imaging, and motor studies. They include leading universities such as Johns Hopkins University, Brown University, and the Massachusetts Institute of Technology. On protein studies, PREDICT collaborates with Caprion, a private firm.

PREDICT had as many as 33 centers but currently has 27 active sites. Worldwide some 1,500 individuals, including 1,200 gene-positive, have participated in PREDICT. The study seeks to follow 1,000 individuals on a regular basis.

Stimulated largely by PREDICT, Iowa alone has produced a critical mass of innovative HD research in what Dr. Paulsen described as an “explosion” in knowledge about the disease over the past decade.

Among the 20-plus projects at Iowa over the past decade, Dr. Paulsen described research on clinical markers of the disease; biomarkers; proteomics (the study of HD-associated proteins); bone mass and metabolism; MRI scans; PET scans; full genome-wide scans (looking at all the genes in study participants); comparisons of symptoms among people with the same level of genetic mutation; the impact of discrimination and stigmatization on gene-positive people; and the possibility that HD might have vascular, immunological, or inflammatory components.

PREDICT researchers and their collaborators have published numerous scientific articles on presymptomatic HD and other aspects of the disease. These include studies seeking to refine cognitive testing; measure the relationship between estimated disease onset and the likelihood of the use of antidepressants; detect brain cell loss as an early HD imaging biomarker; and gauge the loss of perception and processing time in individuals.

Under Dr. Paulsen’s leadership, Iowa has also taken a key role in the study of juvenile Huntington’s disease, a form of the condition often given little attention by researchers because it accounts for just 10 percent of all HD cases.

Crunching the data

To help form research questions, search for useful biomarkers among the large amounts of data collected by PREDICT-HD, and help plan their use in clinical trials, the project enlists the skills of biostatistician Jeffrey Long, Ph.D., a professor of psychiatry.

“I mainly focus in tracking progression over time,” said Dr. Long, the author of a textbook on the open-source computer program known as R, used widely by statisticians and in the PREDICT research. “We try to make use of every piece of data because we are appreciative of the time you all devoted to the study and want to make sure that we maximize the relevant information for the community.”

Gene Veritas (left) interviewing Dr. Jeffrey Long (photo by Sean Thompson)

The seven-member bio-statistical team led by Dr. Long analyzes the different kinds of data collected individually and in combination. The team also helps draw comparisons between data from gene-positive and gene-negative individuals to account for factors such as cognitive loss due to natural aging.

Additionally, the scientists seek to understand the key relationship between the level of genetic mutation and the age of onset and severity of the disease. They have helped identify one key imaging biomarker: the diminishing size of the brain region known as the putamen before disease onset. They have also noted an abundance of a particular kind of protein in the bloodstream of gene-positive individuals.

A special connection

To coordinate visits by PREDICT participants and administer questionnaires and cognitive testing, the project employs several study coordinators, including research associate Stephen Cross.

“I’ve fallen in love with the population,” said Cross. “They talk about the ‘HD bug.’ I’ve got the bug. There’s something unique about this population. I think it’s the family aspect of it. I would feel like I was abandoning the cause to work with another group.”

With PREDICT since 2008, Cross currently has a caseload of some 80 individuals and their families.

PREDICT-HD study coordinator Stephen Cross (left) conversing with Gene Veritas (photo by Sarah Petitt)

“All of them have their lives changed by the genetic testing, regardless of the results, whether it’s positive or negative,” he observed.

He said that, in the case of gene-positive individuals, especially those from families who can trace the disease back a number of generations, “I think it changes their souls, when you know what’s coming in the family, when it’s in yourself. There’s some kind of interaction in this triad of symptoms – the movement, the psychiatric and the cognitive. I think you’re special because of this disease. I feel a spiritual connection with my participants.”

Brain and body scans

“We have many imaging studies,” said Dr. Paulsen. “We’re looking at the shape changes in the brain.”

Imaging provides a picture of HD without the “need to poke around in the brain,” Dr. Paulsen noted.

 “We already have a very good imaging marker,” she continued. “We can measure the volume of the part that’s particularly sensitive to Huntington’s disease, the striata or the basal ganglia. We can see that it changes a percentage every year of the disease. Even as far back as ten, 15 years prior to diagnosis. But we want to get are even better imaging markers, maybe ones that are earlier or maybe one that gives us a more robust signal. So that’s why we have a lot of projects right now that are really trying to challenge what we can learn from brain imaging.”

Gene Veritas (above) walks through a metal detector in preparation for a PREDICT-HD MRI scan performed after MRI radiology technician Marla Kleingartner (below) secures his head to prevent movement during the scan (photos by Sarah Petitt).

In addition to markers, imaging has revealed new information about the extent of the disease, Dr. Paulsen added. Scientists long thought HD affected only the basal ganglia, the area of the brain responsible for motor function.

“The imaging data that’s been published over the last decade shows that it’s much more widespread in the brain,” she said.

With the lack so far of significant HD biomarkers in the blood and urine, PREDICT is now starting to study CSF collected from a number of its previous and current participants by way of a spinal tap.

(I could not donate CSF because a previous lower back injury made the procedure too risky for me.)

A full-body scan

As a registered nurse, Nancy Downing, Ph.D., takes a holistic approach to HD-affected individuals, always seeking to improve their quality of life.

Several years ago, an NIH seminar on genetics helped solidify Dr. Downing’s interest in HD, she said. Today she seeks to integrate genetics and efforts to improve patients’ quality of life. As a PREDICT researcher, she has especially focused on the effects of diet and exercise and the way in which lifestyle affects the expression of genes.

Just two months ago she helped complete a pioneering twelve-month study in which a group of PREDICT participants underwent dual x-ray absorptiometry, a scan that reveals the composition of a person’s body mass (lean, fat, and bone). This same machine is used to detect osteoporosis.

Nancy Downing, Ph.D., RN, SANE-A (photo courtesy of HDSA Center of Excellence at the University of Iowa)

Dr. Downing hopes to triangulate the data from this study to help understand what HD does to areas of the body other than the brain such as muscle tissue. Evidence already suggests that gene-positive individuals have a shortage of branched-chain amino acids, necessary for muscle building and repair, she said.

Dr. Downing’s work supports the growing notion that HD must be seen as a disease of the body and not just the brain.

Preparing for clinical trials

PREDICT can have an impact on clinical trials and the approach treatments might take, Dr. Paulsen said.

“It’s kind of a when, where, how question,” she said. “I don’t think any of those questions is fully answered, so we have more work to do. But we have answers to those questions that we didn’t have before.

“We didn’t know that there was a when, where, how. We thought that once they get a diagnosis, we’re going to try to treat them with something that we’ve learned from other neurodegenerative diseases. I think in many ways Huntington’s has opened up that box and made it much larger. It’s a very exciting time. And I think it will continue. We’re not even close to the end of the possibilities on where we intervene, (and on) the changes of Huntington’s disease.”

PREDICT, with its unique database of long-term data on presymptomatic individuals, could potentially furnish important data for clinical trials, she added.

“We have this entire cohort,” she explained. “We know exactly how much change they have over time. If we do an intervention, we will be able to determine how much change has occurred. No other study can do that, because if you recruit someone new, you don’t know that individual’s trajectory. We have each individual’s trajectory. We know what type of progression they have. If there was a treatment today, this is the group we should put it in, because we tell exactly what’s going on with that person.”

A potential key treatment

In collaboration with PREDICT and other HD projects at Iowa, the lab of Beverly Davidson, Ph.D., is engaged in research aiming for a clinical trial to test a gene-silencing drug that could at least partially halt HD at its root cause.

This approach would involve the use of RNA interference (RNAi) molecules permanently introduced into the brain via the injection of a virus by a neurosurgeon.

Similar to two separate gene-silencing clinical trials planned by Isis Pharmaceuticals, Inc., and Roche and a team involving Medtronic and the non-profit CHDI Foundation, Inc., the potential Davidson lab therapy aims to reduce the production of harmful huntingtin protein by interrupting the natural translation of the gene into protein.

In HD mouse testing, the lab has demonstrated that RNAi reduces the toxicity of the bad gene in the brain and alleviates symptoms, Dr. Davidson said.

She explained that RNAi is currently under study in a clinical trial for Leber congenital amaurosis, a retinal disorder that leads to blindness in children.

“They put this into the eyes of these children, and the children are showing remarkable, remarkable results,” Dr. Davidson said.

Two of the Leber pioneers, Katherine High, M.D., and Jean Bennet,M.D., Ph.D., are “collaborating with us to develop the gene therapy vectors for Huntington’s disease,” Dr. Davidson noted.

Dr. Davidson said her team hopes to start a clinical trial within the next two years. “That might be aggressive, but we’ve been putting in a lot of effort in the background in the last year or so,” she said.

To learn more about this project watch my interview with Dr. Davidson in the video below.

PREDICT’s ending, gratitude to funders

Although currently operating at full steam, at least in its current form PREDICT is scheduled to end on July 1, 2014.

From 2001-2013, PREDICT received a total of $46.8 million in National Institute of Neurological Disorders and Stroke (NINDS) funding. Additional support has come from the National Human Genome Research Institute and the National Institute of Mental Health. The CHDI Foundation has also infused $15.5 million into the project and is providing further assistance.

In the last five years of the study, PREDICT received $5.6 million annually in federal funds from NINDS. The 2013-2014 fiscal year costs are being covered from funds incurred from previous years.

“I was told that NINDS won’t consider any more budgets over $1 million,” said Dr. Paulsen, noting the high cost of this kind of research. She said Iowa would be unable to continue the PREDICT study in its current form with so little money. Just bringing patients to Iowa is a major expense.

NINDS has experienced cuts in recent years. For fiscal year 2013, the federal government cut five percent of the NINDS budget as part of the $85 billion in overall spending cuts determined by Congress, including the sequestration provisions legislated in 2011.

In addition, CHDI is now shifting its priorities to implementing a new worldwide HD patient study and database known as Enroll-HD.

Nevertheless, Dr. Paulsen recognized the significance of NINDS funding, described by one observer as the largest HD project ever funded by the agency.

“I understand NINDS,” Dr. Paulsen said. “They’ve been cut every year. We’ve been fortunate to receive funding from them for years, and CHDI has supplemented us. They had us expand and train some sites to expand. They have supplemented us when we ran into obstacles. CHDI has been very forthcoming in assisting. So they’re just always there in the wings saying, ‘What can we do to make this go better?’ They really want to push things forward.”

Assessing PREDICT’s impact

Asked to reflect on the ultimate causes of PREDICT’s expected termination, Dr. Paulsen stated that she’s “not sure I have the right answer. I have my opinion. There are centers that have followed research projects for decades.”

The federal government has supported such ongoing centers for AIDS, Alzheimer’s, Parkinson’s, and alcoholism, she noted.

However, once again, HD’s status as a rare disease might be leading officials to treat it as insignificant, Dr. Paulsen indicated. Others might have misunderstood PREDICT to have failed to innovate.

She rebuts those notions.

“The output of this project has been far greater than many other of the ongoing centers,” she observed, adding that HD research has contributed significantly to the study of other conditions. “It’s definitely been a project that has morphed and kept up and pushed the envelope. It would be nice to be funded like other centers that just are kind of automatically rolled over.

“We have to be protective of our resources, but the amount we are learning has just become exponential. It has grown so much and it isn’t stopping. Most of the projects I’m talking about are brand new. They’re just starting to look at CSF, at new imaging markers, at trajectories.”

Despite these setbacks, Dr. Paulsen said that HD research would continue at Iowa. New grant applications are already in the works, she said.

The Iowa HDSA Center of Excellence will also continue its activities.

My future in PREDICT

In line with PREDICT’s goal of tracking patients over time, the Iowa team has already notified me that I should return next year for a follow-up examination, before the July 1, 2014, end date.

Ideally, I should also make a third visit at a later date for the researchers to have sufficient data points. The uncertain budgetary situation has cast doubt on that possibility.

Regardless, I feel privileged to have contributed as an HD-positive individual to the quest for treatments, and I am thankful to the numerous researchers and support staff of PREDICT-HD and the public and for the private funding that has made this initiative possible.

(Next time: advocacy meets science and medicine in Iowa and beyond.) 

Big decisions while facing the threat of Huntington’s disease

At every turn of life, we all make big decisions such as choosing a career, a mate, a home, and the number of children to conceive.

Living with the knowledge of a positive test for a devastating condition such as Huntington’s disease radically complicates such decisions. Coupled with the deep stigma associated with HD, the fear of the onset of symptoms magnifies the stress and doubt that come with such turning points.

As I have frequently revealed in my writings and in speeches about HD, I have faced life-changing decisions about a feeding tube for my HD-stricken mother, my genetic test, and the test of our daughter while still in the womb. (Thankfully, she tested negative!)

Planning for the inevitable symptoms of this currently untreatable disease has also profoundly altered my career, leading me into a new field far different from my original focus on Brazilian history: the history of science, technology, and medicine.

With my definitive exit from the “HD closet” last fall, I have begun to integrate this new intellectual passion into my professional life.

Professional excitement

Lately, however, I’ve relived the intensity of how the threat of HD affected my professional decisions.

With the surprise resignation of Pope Benedict XVI on February 11 and the emergence of several potential successors from among Latin America’s cardinals, my expertise on the Roman Catholic Church’s actions in the region and its relations with the region’s dictatorships – topics usually of no interest to the media and the general public – suddenly were in demand.

The election of Pope Francis I created great excitement: his initial attitudes and actions indicated that he might very well attempt to clean up the corruption and abuses that have plagued the institution.

At the same time, it rapidly became apparent that the new pope had had his own complex and (to some) controversial relationship with the Argentine dictatorship, which carried out a “dirty war” against Argentines from 1976-1983.

In the period before and after the election of Pope Francis I, I gave eleven interviews and answered a number of other queries from newsmagazines and radio and TV outlets.

My personal excitement culminated with the publication on March 17 of an op-ed article, outlining the potential paths of the Church under Francis I, in one of Brazil’s most prestigious newspapers, the Folha de S. Paulo, followed  by a quotation from me about the Argentine branch of the Church in a front-page story in The New York Times.

As I told a number of friends, never before and probably never again will my scholarly work on the Catholic Church command so much attention in the United States.

Throughout all this, I began to relive the past thrills and satisfaction of researching the Church, publishing books on the topic, and discussing my work in the Brazilian media.

My wife seemed especially happy to see me enjoying, for the first time in a very long while, recognition for my original career path. For her, it was a relief from that dogged, sometimes seemingly one-dimensional aspect of my life involving the fight against HD.

Second-guessing the past, but welcoming the future

As a result, I began second-guessing my decision in 2007 to turn down a job to help run a prestigious Latin American studies center in Florida in order to remain in biotech-rich San Diego to focus on the fight against HD. Staying put also helped safeguard my family’s financial future by allowing my wife to keep her good job and better-than-average retirement plan – absolutely essential if HD were to leave me disabled.

I thought of the HD people I had recently read about who had roughly the same degree of genetic mutation as I did and managed to avoid symptoms until their sixties and even continued to work after onset.

However, in the process of second-guessing, I recalled how I made that decision when the memories of my mother’s demise just a year and a half before still haunted me.

In hindsight, it’s easy to argue that I should have taken the other job and not worried so much about HD.

However, hindsight also reminds me of how HD completely destroyed my mother’s ability to work, to communicate, and to care for herself.

My wife and I made our big decision with the best information available to us at that moment.

I quickly reminded myself that rather than reliving the past, I must look to the future, value the intellectual flexibility of my university, and fulfill the plans I have mapped out for myself. I will be seeking connections with my university’s neuroscience program and social outreach project in order to promote brain health as a national priority.

Indeed, my dean has fully supported me after my exit from the HD closet. I felt especially reaffirmed with the publication of a feature article about my journey with HD on the university’s website.

The decision to pursue the history of science, technology, and medicine has exposed me to new vistas of the human story. HD is a challenge – but also a gift that has led to profound intellectual and personal growth.

The real successes and challenges

I savored my public moment as a Latin America scholar.

However, it stood in sharp contrast to the intensity and immensity of the challenge to avoid HD symptoms and contribute to the defeat of the disease.

While friends and colleagues were impressed with the recognition of my expertise, I quietly pondered the truly significant accomplishment for me during the week of Francis I’s election: the successful arrangement of a meeting between Paulo Vannuchi, Brazil’s former Minister of Human Rights, and Taíse Cadore, the president of the Associação Brasil Huntington. They discussed the crucial need to involve Brazil’s Ministry of Health in the fight against HD in Brazil, which will host the 2013 World Congress on Huntington’s Disease from September 15-18.

Ultimately, scientists’ work will go for naught unless events such as the World Congress can draw more people into the HD cause and involve them in the all-crucial research studies and clinical trials.

Participating in a study

On March 13, as I monitored the Internet for news of the papal conclave, I spoke to a researcher at the Huntington’s Disease Society of America Center for Excellence at Iowa Hospitals and Clinics, one of the sites for a key study known as PREDICT-HD, an observational study of the earliest signs of HD that needs asymptomatic, gene-positive volunteers.

PREDICT-HD will help establish ways to measure the efficacy of potential treatments.

Participating in PREDICT-HD represents another big decision for my family and me. The study requires the presence of a spouse or partner, who must answer a questionnaire about the gene-positive individual. All three of us must spend two days traveling and at least two days in Iowa.

The PREDICT-HD also involves a voluntary spinal tap so that cerebral spinal fluid from gene-positive people can be studied for the effects of HD and ways to measure the efficacy of potential treatments.

Spinal taps are routine but, like any procedure, involve risks such as a debilitating headache that could require emergency room treatment. In my case, it means that I will probably notify my health insurance plan for the very first time of my gene-positive status. I want to make sure I can safely undergo the tap, and I want to have my plan doctors on standby in the event of complications.

In and of itself, informing my health plan about HD represents yet another significant shift in my medical, psychological, and emotional approach to the disease.

Channeling the positive energy

As the HD researcher and I finished our discussion about PREDICT-HD, I saw the announcement of breaking news about white smoke from the Sistine Chapel: a new pope had been chosen.

Minutes later, my daughter and I watched as Francis I appeared on the balcony of St. Peter’s Basilica in Rome and humbly prayed the Our Father and Hail Mary with the crowd gathered below – the same prayers she and I say together each night, alternating in English and Portuguese, before she goes to sleep.

I felt a new beginning for the Church.

In the days since then, I have frequently asked myself how I can channel the deep fulfillment and positive energy from my study of this troubled but nevertheless key institution into the effort to relieve the suffering caused by Huntington’s and so many other devastating diseases.

As I wrote in my op-ed piece on the pope, Francis I “seems to be saying that believers, and the rest of the world, must rediscover the fundamentals of human existence.”

In his inauguration homily on March 19, Francis I stated that “authentic power is service.” As pope he must protect “the hungry, the thirsty, the stranger, the naked, the sick and those in prison.”

For me, this means protecting my family from the consequences of HD and striving to do my small part to help others.