‘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)

New film unmasks the raw reality of Huntington’s disease

A new, award-winning documentary film, The Huntington’s Disease Project: Removing the Mask, reveals the raw reality of HD so thoroughly and authentically that it should become required viewing for health care professionals and trainees in the neurological field.

This 100-minute film, not yet released widely, is also a must-see for the HD community and the general public, although it will likely cause many to recoil from what it calls the “monster” tormenting HD-affected individuals and their families.

As an HD gene carrier and long-time grassroots advocate who saw his mother succumb to the disease, I consider myself a hardened observer.

Even so, Removing the Mask shocked me with its exploration of the lives of HD-affected individuals and caregivers, including producer and narrator James Torrington Valvano, diagnosed with HD in 2009 yet still able to function sufficiently to make the film.

With an anthropologist’s eye, James probes the many layers of HD reality – and the hearts of its victims.

Removing the Mask delves into the wide range of issues HD families face, including medical challenges and social disruption.

The HD community will recognize many of them, although they are rarely discussed so openly in a medium such as film: ignorance about the disease, misdiagnosis, denial, family tensions, rage and aggression, genetic testing, financial devastation, caregiving, and loss of the affected individual’s independence, to name just a few.

Removing the Mask does not shy away from the most difficult themes: inaccurate racial interpretations of HD by physicians, associated sexual disorders, suicide, the exclusion from clinical trials of HD people with suicidal tendencies, and mercy killing. It also pays close attention to juvenile HD, often omitted in the overall conversation about HD.

In striving for a comprehensive view of HD, Removing the Mask adamantly advocates for a broad understanding of the disease by medical and psychiatric professionals, relevant government agencies, and the public. This includes recognition of HD as not just a movement disorder, but also one involving cognitive, emotional, and behavioral difficulties.

Although Removing the Mask mirrors the detailed information about HD known to specialists, many non-specialist health professionals don’t understand the disease.

Removing the Mask is not a textbook-like film but a genuine illustration of the disease. Rather than a medical or scientific authority explaining HD for us, in the film we feel the pain as the affected and their loved ones tell us what it's really like to have the disease.

James brings it all to life with testimonies that are brutally honest.

You can watch the Removing the Mask trailer in the video below.

Shaving seven hours a day

At James’s invitation, I recently watched the film by myself in a private online session on my home computer.

One of many poignant segments concerns John and Sue Wright of Kent, England. John, who liked to work with computers before he fell ill, was diagnosed with HD in 1992, and soon thereafter Sue became his caregiver. In the film, she describes his mental decline.

“He was waking every morning threatening to kill me and throw me out the window,” Sue recalls. “He was sharpening knives in the kitchen constantly, and he was assaulting me. I always reported the assaults, for my own safety, to the police, but never wanted him prosecuted. I knew it was the disease making him behave this way, and not his intention.”

To avoid harm, Sue moved out, although she returned home up to seven times each day to care for John.

John developed a condition experienced by a number of HD-affected individuals: obsessive-compulsive disorder (OCD).

“He was obsessed with any paper towels, tissues, etc.,” Sue remembers. “He would pile them up and keep them. If I attempted to throw them away, he would retrieve them from the rubbish bin and put them back in their piles.

“He was also obsessed that any facial hair would suffocate him. So he started shaving for up to seven hours a day, making his face red raw.”

Starving himself to death

Sue had to have John legally committed to a mental health facility.

“This was a horrific experience, as the police were brought into the house in riot gear, and he was dragged out of the house still trying to eat his lunch,” she explains. “My twin Sheila was wonderful. She stepped into the house when [it] happened so that John would blame her rather than me for what happened. This gave her nightmares for quite a considerable period but thankfully did preserve John’s and my relationship.”

Over the next several years, John lost his ability to walk and speak. Eating also became extremely difficult. When asked if he wanted a feeding tube, Sue says in the film, John violently shook his head no.

“John indicated that he’d had enough when he started refusing to eat and drink,” she says. “His quality of life was non-existent, and I knew he wanted it to be over.”

Mercy killing is illegal in the United Kingdom. “My only option was to help him as he starved himself to death,” Sue says plaintively.

John died in 2006. He was 56.

‘We have a face’

At the film’s outset, James declares that the HD monster “caused so many people across the world to hide behind masks, masks of silence.[…] It was time to destroy the monster. Our goal was very simple: to remove the mask of Huntington’s disease.”

He adds: “It was time to show the world that we have a face.”

A former mental health care professional and small business owner forced to quit after his diagnosis, James began work on the film in 2011, with a powerful short showing people taking off masks and saying “I am no longer a faceless face” (click here to read more).

Before the short, he had never made a film, although he had studied communications, film, and psychology at St. John’s University in Jamaica, NY, for a while in the early 1990s.

James decided a film was the best way to get out the word about the disease.

“It frustrated me and so many people that no one was telling or showing the real truth behind he disease,” he said. “Advocacy is more than walking, fundraising, wine-tasting, and dinners. All of those ways to advocate are important, but they alone were not working. How can we expect the world to know about HD if we are not willing to get outside the box?”

In addition to his work as an advocate, James cares at home for his older brother John, now in the advanced stages of HD, with the assistance of his spouse, Ian V. Torrington. James’s father died of HD and cancer. Five other siblings and numerous other relatives are at risk for HD. Ian also cares for James.

Ian V. Torrington (left) and James Torrington Valvano (personal photo)

To support the project but also to network globally to raise the profile of HD, James and other advocates from HD families formed WeHaveAFace.org.

Recently granted nonprofit status, the organization provides online and mobile support to the HD community. Activities include fundraising for HD research and family assistance, online support groups, the production of a quick reference guide about HD for police and rescue workers, and a mobile application with ample information about HD.

A number of WeHaveAFace.org’s U.S-based regional advocates tell of their struggles with HD in Removing the Mask.

According to James, he spent less than $7,000 on the film, with funds coming from a t-shirt campaign, other small donations, and “heavy hitting on my credit cards.”

‘We need the world to watch’

According to my conversations with James via Facebook, he and his film team held “dozens upon dozens” of Skype calls and exchanged thousands of e-mails in the background research for the Removing the Mask.

Not everybody agreed with James’ direct approach. According to him, one advocate broke off from the project “because I was tackling suicide.”

James himself admitted experiencing powerful emotions during the project.

“Filming the topic of suicide was one of the most difficult and painful experiences in my life,” he wrote in a digital journal kept during the production. “As a filmmaker you want to get the rawness of the topic, but as a person with Huntington's disease, my heart and soul ached through every second.”

In the film Cindy Dupree, an HD-stricken woman from Alva, Oklahoma, and her husband Ron speak hauntingly about suicide.

“I am not ashamed or afraid to talk openly about suicide, because it affects so many people within the Huntington’s community,” says Cindy.

“I know that she battles thoughts of suicide each day, and I fear that I will receive that call that ‘your wife has just taken her life,’” says Ron. “I can only imagine how other caregivers feel. I know they are fighting the same battles we are. I am angry a lot of the time and do my best to realize and understand that it is the disease and not my wife.”

Cindy says that knowing Ron and their three daughters rely on her keeps her “grounded.”

“The documentary was never created for the Huntington's community,” James added. “We had to get outside the box and set our aim on the general public. Although I believe and hope that the film will resonate within our own community, we need the world to watch exactly what we go through.”

How to see the film

WeHaveAFace.org celebrated the official launching of Removing the Mask on June 20 in James’s hometown of St. Cloud, FL. He has entered it in about a dozen film festivals in the U.S. and abroad.

It won in the category of best feature documentary in the July 2015 monthly competition of the Miami Independent Film Festival.

James hopes to make the film available to the general public in early 2016 via DVD, Blu-ray, and Vimeo.com. He is also hoping to include it on Netflix and iTunes.

For now, organizations and support groups interested in showing the film as part of an HD awareness-building or fundraising event can do so by registering at this link.

The dilemma of illness

The Huntington’s Disease Project: Removing the Mask joins a group of high-quality documentaries about HD launched in recent years, including The Lion’s Mouth Opens, a courageous HBO film about filmmaker-actress Marianna Palka’s decision to test for the genetic defect.

With its unapologetic presentation of HD, Removing the Mask will stir controversy not just about Huntington’s, but also the way in which people and institutions deal with the terrible challenges of neurological disorders in general.

After watching the film, I kept remembering the dilemma I faced six years ago when I was directing the construction of an independent website for the Huntington’s Disease Society of America’s (HDSA) San Diego chapter, whose board I served on.

Should the homepage use positive, “feel good” images to advance our cause? Or should it show the harsh realities of HD? One of my fellow board members, a public relations specialist not from an HD family, cringed when I showed him some of the photos of gaunt HD-affected individuals I was proposing for the site. I indeed used some of those photos on the site (which is no longer operative).

I don’t know if I did the right thing.

I believe that Removing the Mask faces the same dilemma. It’s raw, but will it ultimately be effective?

I believe that it can be in the health care community. Removing the Mask would make a fine multimedia companion to HDSA’s A Physician’s Guide to the Management of Huntington’s Disease.

Professionals and students in the medical professions must see this film. So must public officials like the administrators at the Social Security Administration and doctors who evaluate HD-affected individuals for disability. And so must general medical practitioners, neurologists, psychiatrists, and others who potentially come into contact with HD patients.

I’m hoping that the Miami festival award indicates that the general public is also ready to help destroy the monster of HD.

(Note: I have a very small part in the film, where I take off my own mask, but otherwise had nothing to do with the content.)

After a Social Security setback, HDSA steps up advocacy on Huntington’s disability criteria

The Huntington’s Disease Society of America (HDSA) is calling on the HD community and its supporters to urge the Social Security Administration (SSA) to update and expand its listing (description) of the disorder so that patients suffering from all types of symptoms can qualify for disability benefits.

Listings are medical criteria for evaluating disability claims involving diseases and disorders as determined in the Social Security Act. Written decades ago, the current SSA listing for HD mentions only the motor symptoms, the involuntary movements caused by the deterioration of the brain. However, HD also produces cognitive decline and psychiatric and behavioral issues, which usually leave patients disabled. Both of these symptom types often occur before the motor symptoms.

In the past decade, HDSA worked for the introduction of a bill in Congress, the Huntington’s Disease Parity Act, to change the HD listing and eliminate the two-year waiting period for benefits. HDSA has also directly lobbied the SSA.

Initially, the SSA responded favorably. It took a big step in April 2012 by listing juvenile onset HD as eligible for a Compassionate Allowance, thus quickening the approval of applications for benefits, which can take many months and even years and sometimes require applicants to resort to an arduous appeals process. Later that year, adult onset HD also became eligible for the allowance. (Click here to read more about Compassionate Allowance, HD, and Social Security benefits.)

However, when the SSA on February 25 released its draft of updated neurological listings – the first such revision in more than 30 years – the description for HD remained woefully inadequate.

A ‘glaring omission’

“We were certainly disappointed when the listings … made no practical advancements in the ability of their (SSA) examiners to have a true picture of the clinical manifestation of Huntington’s,” said HDSA CEO Louise Vetter in an interview today. “They continue to depend on the motor symptoms. There is a large body of knowledge obviously that gives the cognitive and behavioral symptoms equal importance in the progression of the disease.”

HDSA CEO Louise Vetter (photo by Gene Veritas)

On March 27, HDSA issued an analysis of the SSA HD listing that it posted on its website (click here to read more).

“Based upon HDSA’s analysis, this listing leaves many of the same gaps unaddressed and is worse than the listing we have now,” the society states. The proposed listing puts even more emphasis on the motor symptoms. (To obtain benefits, patients must be examined by at least one doctors and provide any medical documentation requested by SSA.)

The HDSA analysis found an “inconsistency between the listings (that do not mention any non-motor symptoms) and the preamble, which states that: ‘When these disorders result in solely cognitive and other mental function effects, we evaluate the disorder under 12.02/112.02 (for juvenile).’” The number twelve refers to the mental health listings, where general issues with neurological disorders such as HD are also described.

HDSA argues that “unless these other sections are spelled out in the listing itself, the examiner (and even a medical professional who is unfamiliar with HD) won’t know that they should look at the preamble because the person with HD appears fine in person and often lacks the insight to describe symptoms.”

The “glaring omission” of non-motor symptoms in the SSA listing “will cause individuals disabled by non-physical symptoms to be denied,” the HDSA analysis concludes.

One advocate told me privately that the SSA and HD specialists “don’t always speak the same language.” For instance, what HD specialists describe clinically as “apathy,” a hallmark symptom of HD, must be found in the SSA criteria under “anhedonia.”

Educating the bureaucracy

As of this writing, the SSA point person had not responded to my phone message requesting comment on the HD listing. Cheryl Williams of the SSA Office of Medical Listings Improvement is indicated as a contact person in the Federal Register, where the SSA published the proposed neurological listings.

Vetter offered “two plausible explanations” for the inconsistency in the neurological listing.

First, the SSA is “struggling with a change in leadership” after Commissioner Michael Astrue finished a six-year term, retiring in February 2013. Astrue had approved the Compassionate Allowances and even appeared in a video made specially for the 2012 HDSA national convention. Since Astrue’s departure, SSA has operated under an acting commissioner, Carolyn Colvin. Thus, “new staff” received the task of revising the neurological listings, Vetter observed.

Second, Vetter noted the complexity and length of a document covering numerous neurological conditions.

“I recognize that it’s a tall order to conveniently define HD,” she said. “This is a bureaucracy looking for simple definitions, and HD is not easily characterized in convenient language. From that perspective, they’re trying to simplify a complex disease. That is inevitably going to lead to some gaps, and we’re calling them out on that.”

Pressing for a meeting

Vetter added that, at some level, the SSA doesn’t sufficiently understand HD. HDSA is seeking “direct dialogue” with the SSA, but so far the SSA has refused to meet.

Vetter speculated that, if the SSA meets with HD community representatives, it fears “the slippery slope” of having to meet with all disease groups.

HDSA, Vetter said, must convince the SSA of the uniqueness and complexity of HD and therefore the need for more “guidance” for the medical examiners who determine whether HD patients receive disability benefits.

“We should be granted an exception,” she declared. “We won’t take no for an answer on this one.”

How to send a message to Social Security

HDSA CEO Louise Vetter has formally submitted the HDSA analysis as a comment for SSA consideration, as have several dozen other HD advocates and family members.

Vetter urged HD advocates, family members, and supporters to also submit comments to the SSA. You can view others’ comments and add your own by clicking here. Your can simply state that you support the HDSA's input on the Huntington's listing, or you can leave a personalized comment of greater length.

The deadline for comments is April 28.

Removing barriers to understanding HD

Advocacy on this issue forms part of a larger effort by HDSA and the HD community in favor of the Huntington’s Disease Parity Act of 2013, a bill that would direct the SSA to update and expand its HD listing and waive the two-year waiting period for HD patients to receive Medicare benefits.

The current setback is “not a reflection on the HD community’s momentum at all,” Vetter said. “I know that we still have many strong advocates in the SSA. They are trying to find a way to accommodate HD in a complex process. Hopefully they’ll be able to accomplish that quickly. I don’t think we should be disheartened.”

Little by little, HD advocates are “removing barriers” to understanding of the disease, she added.

To learn more about how you can assist with HD advocacy, contact the nearest chapter of HDSA or write advocacy Jane Kogan, HDSA’s manager of education and advocacy, at jkogan@hdsa.org.

A Huntington’s Thanksgiving message: gratitude for health and the ability to work

Thanksgiving, my favorite holiday, leads me to take stock of the many good things in my life.

First, I am thankful that I have not yet experienced the classic symptoms of Huntington’s disease. At year’s end, I will turn 54 – at least several years beyond the age of onset for my HD-afflicted mother. At my annual HD checkup last month, my neurologist said I was symptom-free.

After testing positive for HD at the age of 39 in 1999, I had expected to be incapacitated by now. Doctors and scientists still don’t know enough about HD to explain why someone like me has remained asymptomatic beyond the parent’s age of onset. As I have written in the past, I keep striving toward a well-informed strategy for avoiding onset.

I am thankful for many of the other reasons people celebrate Thanksgiving, especially family. My HD-free daughter is a thriving eighth grader, and next month my wife and I will commemorate 21 years of marriage.

This year, I am particularly thankful that, without the symptoms that typically disable HD people, I can still perform my job as a university professor.

The financial burdens of HD

This past Monday night, attending our local HD support group’s annual holiday potluck, I saw once again how Huntington’s causes the involuntary movements known as chorea and inexorably robs people of their cognitive abilities, severely hampering their capacity for work.

As a result, HD devastates families financially. When an HD-affected breadwinner loses his or her job, family income falls dramatically.

Other family members often must reduce their own work hours to help care for the sick individual. In some instances, they change occupations to adjust to care needs. They might even quit salaried work altogether.

As the story of caregivers Mike and Raima Fernald illustrates, local and state government assistance in such situations is sorely lacking. The HD community also has fought to improve access to Social Security benefits, denied to many because outdated government guidelines don’t account for HD’s cognitive and behavioral symptoms.

In the case of my parents, HD wiped out their “golden years.” Instead of enjoying retirement, my “HD warrior” dad became my mother’s full-time caregiver from the mid- 1990s until her death in 2006 at the age of 68.

Instead of trips and time with their grandchildren and friends, they struggled together to address my mom’s decreasing ability to walk, talk, and eat. In the last six months of her life, they spent several thousand dollars per month on nursing home care.

“HD is more than a disease,” I wrote as my heartbroken father precipitously lost his own cognitive abilities in the wake of my mother’s death. “It is a destroyer of families.”

One thing I fear most about the inevitable onset of my own HD is that it could put my family into a similar financial bind. Both my wife and I work full-time, and my salary currently accounts for more than half of our income.

“What if I become disabled before my daughter finishes college?” I frequently ask myself. “What if my wife must work many extra years to compensate for my lost income? What if I become a burden to my family?”

Happy to be busy

News reports about the needy at Thanksgiving remind me of the troubling backdrop to the holiday: the anemic state of our economy.

As a local radio report noted yesterday, “food stamp cuts that took effect this month will make Thanksgiving even harder for low-income San Diegans. A typical Thanksgiving meal will cost the average family nearly $50 this year, which is far beyond reach for the nearly half-million people in San Diego County who struggle every day to put food on the table — especially the 270,000 people who depend on food stamps for meals.”

So this Thanksgiving I am grateful that I can work, help support the household (including our daughter’s private school tuition), and save for the future. I’ve also enjoyed the present with family vacations and home improvements such as my just remodeled home office, which replaced a rickety and ugly setup persisting from my days as a frugal graduate student and starting assistant professor.

This year, I’m thankful for the health that has allowed me to have a highly productive year at the University of San Diego, where I am wrapping up my fifth calendar year as department chair. It’s been especially busy as my colleagues and I search to fill an exciting new position in the history of science, technology, and medicine.

With the gift of being asymptomatic, I’ve also maintained the pace of my HD advocacy, with major trips to Iowa in August and to the World Congress on Huntington’s Disease in Rio de Janeiro in September. Until today I’ve written 26 blog articles this year, my second-highest annual output since starting At Risk for Huntington’s Disease in 2005.

This is article No. 27, written with a deep sense of gratitude for the gift of life, family, and health – and the hope of effective treatments and a better future for the entire Huntington’s community.

Braving bioethical challenges: the importance of Huntington’s disease

Huntington’s disease, one of the first conditions for which a predictive genetic test was developed, spotlights the psychosocial ramifications of the Genomic Era.

In addition to the profound impact of HD on people’s health and social well-being, the difficult decisions involved in genetic testing have created new ethical challenges.

Over the past few decades, the rapid advance of medical and scientific research has caused ethics – our standards of right and wrong and the study of those standards – to expand into bioethics.

Bioethics is a vast topic. Georgetown University, for example, has an entire library dedicated to research on bioethics, and a number of other universities have centers dedicated to the subject.

Biomedical innovation puts bioethics into a seemingly constant state of flux.

The passage of the Genetic Information Nondiscrimination Act of 2008 (GINA) and the Affordable Care Act of 2010 (Obamacare) are two prominent examples of how society has sought to adapt to new biomedical realities and ethical consequences. GINA seeks to protect individuals from new forms of discrimination made possible by advances in genetics, while Obamacare aims to make health care more inclusive as it undergoes profound transformations.

HD families like mine have lived on the frontier of bioethics, often constructing new, personal solutions to the predicaments posed by the disease.

Understanding our contribution to this historic process helps us appreciate our part in the overall effort to combat disease.

New tools, new challenges

I addressed the topic of HD and bioethics at the invitation of the graduate program in bioethics at the Centro Universitário São Camilo, a private Catholic college, in São Paulo, Brazil, during a presentation on September 21.

About 50 people attended the event, including at least a dozen members of the HD community and also Dr. William Saad Hossne, the program’s founder, described by one writer as “the guardian of bioethics” in Brazil. Started in 2004, the program was the first of its kind to receive official sanction.

Gene Veritas speaking at the Centro Universitário São Camilo

Focusing on how the new “tools” of medicine and biotechnology have deepened our understanding of human biology, I explained how my family braved three predictive tests in just five years: my mother’s confirming test for HD in 1995, my own gene-positive result in 1999, and our daughter Bianca’s negative test while still in the womb shortly afterward.

All of these tests brought potentially fatal news: a positive test for the HD mutation meant a 100 percent chance of developing the untreatable disorder.

“Because Regina and I wanted to have children, I also had to think about whether I wanted to get tested,” I told the audience, speaking in Portuguese.

Rather than following my initial impulse to get tested immediately after learning of my mother’s results, I waited for several years. As I explained to the audience, my mother’s geneticist had warned me of the possibility of discrimination by my employer, health plan, or insurance companies.

As demonstrated by the discussion around GINA, discrimination has become a major concern of bioethics.

The risks in having a family

“I did the test, and, unfortunately, I tested positive for Huntington’s,” I continued.

I showed the audience slides illustrating the varying number of CAG repeats (part of the “alphabet” of our DNA) on the huntingin gene. People normally have 10-26 CAG repeats on this gene. An expansion of the gene to 40 repeats signals that a person will develop HD. The tests for both my mother and me showed 40 repeats.

Research shows that the higher the number of repeats, the earlier the disease usually starts, with juvenile onset HD becoming possible if the repeats exceed 80, although even fewer repeats have caused this form of the condition.

Because of the instability of the HD-afflicted male’s huntingtin gene in the reproductive process, he can pass on a much higher number of repeats and possibly trigger juvenile HD.

“Having a family becomes like the Way of the Cross,” I said with pain in my voice. “In our case, because we wanted to have a family – and that’s why I got tested when I did – we faced a third test. First my mom’s. Then mine. Then a third one: of our potential child.

“A low number of repeats: no possibility of having the disease. As the number of repeats rises, the possibility of the disease increases…. The more the repeats, the earlier the disease manifests itself, to the point where five to ten percent of the cases are juvenile Huntington’s.”

I pointed on the slide to a picture of Olivia Ruggiano, a 12-year-old girl who died of juvenile HD in 2012.

“In my case, with 40 repeats, I could pass on to another person 45 or 55,” I continued. “There’s a case where a father has 50 some repeats and the children have 80 or 90 repeats. That’s when juvenile Huntington’s happens.”

Very serious questions

I then delved into the heart of HD and bioethics as I had not done before in such detail in a public presentation.

“A family that faces that situation is suddenly confronted with two very serious questions,” I said. “If they are thinking of the possibility of aborting the fetus, at what number of repeats would they abort? If you’re a couple with the father carrying the gene and the mother gets pregnant, and you’re afraid that the child could have the gene, you can test the child in the uterus to see what type of gene it has, whether it’s normal or abnormal. If it’s abnormal, you can know exactly how many repeats it has.

“And that’s where a question of bioethics is forced upon people. Are you going to have that child – or not? Are you going to face a situation of death at the age of nine or 12? Or are you going to end the pregnancy?”

I explained that, living in California, Regina and I faced the additional burden of raising a potential child without familial support. My father dedicated himself to caring for my mom back in my home state of Ohio, while Regina’s parents lived in far off Rio de Janeiro.

“How would Regina be able to care of me, a sick person in his forties or fifties, and also a child with symptoms or dying early?” I asked, pointing again to the picture of Olivia.

“These were the questions we dealt with and reflected on as we embarked upon the pregnancy,” I observed. “Today there is a method for avoiding that question, with the implantation of healthy embryos. In 1999, that technique didn’t exist. The only way was to get pregnant, then test.”

Fighting on other fronts

The day our geneticist called with the news of Bianca’s negative test in the womb was the happiest of our lives to that moment.

The next slide in the presentation showed two pictures: one of Regina, our gene-negative baby Bianca, and I together in the hospital the day of her birth, another of me clutching our “miracle baby” close to my face.

That terribly difficult and drawn-out part period forms just one part of our journey with HD.

As I pointed out to the São Paulo audience, HD families live the reality of bioethics in numerous other ways: by combatting the stigma and discrimination associated with the condition, negotiating intra-family conflicts arising from the disease, advocating for new and controversial treatments like stem cells, struggling to obtain various kinds of insurance, facing financial ruin, and dealing with the lack of care facilities and personnel specialized in HD.

Sadly, I also reminded that audience of the high rate of suicide among HD-affected people. Euthanasia is another bioethical issue that comes into sharp focus for HD families.

Emotional testimony

After my 85-minute presentation, the audience offered commentary and questions for another 50 minutes. The emotional testimony from members of HD families and the poignant questions from the audience further underscored the seriousness of the bioethical issues surrounding HD and confirmed their global nature.

One man in his 30s cried as he recalled how his sister, who has the involuntary movements typical of HD, was called a “drunk” by the children at her 12-year-old daughter’s school.

A middle-aged woman told how her brother, a computer programmer, lost his job after his performance declined significantly. Despite his obvious cognitive difficulties and aggressive behavior, two telltale signs of HD, both a caseworker and government psychiatrist working for the Brazilian social security system denied him public benefits.

“The psychiatrist said he was able to work and had no problems whatsoever,” said the woman, who quit her job to care for her brother at home.

The family appealed the decision, but was denied again. They have sued in an attempt to obtain benefits.

At the last hearing in August, held before a federal judge, the caseworker, still unaware of how HD symptoms are manifested, asked whether the HD man drank alcohol.

At my talk, the HD man’s sister referred to government doctors handling the request for benefits as “ignorant” and “stupid.” The case is still pending.

“I’m angry and worn out,” she said, adding that she is attempting to bring the case to the attention of the Brazilian media. “We need help.”

I noted that in the U.S., HD advocates are working towards passage of a federal law to oblige the Social Security Administration to remedy a similar situation in which an inaccurate, outdated definition of the disease has kept many afflicted individuals from obtaining assistance.

Proactive involvement and the hope of treatments

Another, more positive area of bioethics involves participation as subjects in research studies and clinical trials. On this front HD people, gene carriers, untested at-risk individuals, and other family members are taking a proactive approach to contributing to the search for treatments and a cure, usually in a context of high bioethical standards.

Ultimately, allowing HD patients to manage their symptoms with effective remedies, or perhaps someday even curing the disease, will obviate many of the bioethical challenges, although new ones surely will arise – for example, as gene-positive people clamor to try untested drugs.

Our community can and should continue to show leadership on these issues.

For now, as I concluded my presentation, “It’s time to conquer Huntington’s!”

(The many Brazilian readers of this blog can watch my presentation and the Q & A in the videos below.)

 


A Doença de Huntington e a Bioética: Um Estudo de Caso from Gene Veritas on Vimeo.

A Doença de Huntington e a Bioética: Debate sobre a Palestra de Gene Veritas from Gene Veritas on Vimeo.