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.

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.

Huntington's disease and the perils of adoption

Because Huntington’s disease is inherited, its sudden appearance can send family relationships into a state of shock.

Many HD families can trace the disease back over generations, but in some, like mine, it appears unexpectedly.

Adoption of gene-carrying children generates another kind of surprise for both the unknowing adoptive parents and the adoptee.

The story of four HD-stricken daughters born to Dianne M. Travers, who died of HD in 2010, reveals the almost surreal perils of adoption when HD is involved. Their story also highlights how genetic testing, increasingly common in the biotechnological era, can open up unexpected and disturbing doors.

Figuring out a puzzle

The story of these women came to light because one of the sisters, an adopted child who is today the 47-year-old Lisa Davenport Boudreau, in March 2012 discovered the identity of her birth mother after an 18-year search.

An Army combat veteran, Lisa commenced her search at the age of 30 in 1995 after retiring from the service on disability resulting from post-traumatic stress disorder.

Lisa Boudreau during Army days (personal photo)

“It was like a puzzle, putting a little piece together at a time,” Lisa told me in a series of recent interviews from her home in Wilmington, NC. She and her sisters were willing to share their both exhilarating and painful story in an effort to raise consciousness about both the tragedy of HD and the challenges of adoption.

Lisa’s adoptive parents had told her that they raised her in a closed adoption, which withholds the identity of the birth parents. Knowing her parents would be reluctant to help, Lisa at first proceeded on her own, without knowing the name of the agency that had handled her adoption.

Acting like an investigative reporter, she sought her roots by compiling a list of women who’d gotten pregnant around the time of her birth in 1965 in Fargo, ND. She also looked for Fargo babies born that year and poured over census reports and microfiche of area newspapers, hoping somehow to find a scrap of news about her entrance into the world.

In 2007, with her four children from two previous marriages old enough to allow her more free time, Lisa devoted herself to the task full time. She first contracted a private investigative firm specializing in assistance to adoptees. Despite paying a $2,000 fee, she got no results.

Lisa was finally able to obtain from her adoptive mother the name of the agency that had handled her case, Catholic Charities of North Dakota, to which Lisa paid $500 in fees for a document certifying her nationality and birth weight and for the agency to begin a search for her birth mother. This crucial step allowed Lisa to intensify her search.

As Lisa explained, since the 1960s adoption laws have changed to make it easier for adopted children to find their biological parents. “A lot of adoptees want answers,” she said.

However, Catholic Charities delayed in obtaining results, Lisa said.

“I had to have someone put a fire under (their social worker), because in three years they did absolutely nothing,” she explained. “And then, all of a sudden, when I told them I would sue them, in a month they found my mother. I really think Catholic Charities is using the adoption industry to make money.”

Catholic Charities told her Lisa that she had no siblings. To this day, she has still not obtained a copy of her birth certificate, which remains sealed in an archive in Fargo.

An identity – and a disease

“Towards the last year of looking for mom, there was something in my gut,” Lisa recalled. “For the last three months, I didn’t sleep two hours a night. I knew something was wrong. I could feel her pain, even though I never met her.”

Finally, on February 27, 2012, Lisa received a call from a social worker at Catholic Charities who had been able to track down her birth mother.

What came next was not just the joyful revelation of her biological mother’s identity, but also the shocking news that would instantly transform the lives of Lisa, her husband Bob, her children, and the relatives she had yet to discover.

Lisa learned from the social worker that her mother Dianne had recently spent seven years in a nursing home and had died of a disease of which she had never heard: Huntington’s.

“After the call, I got on my laptop,” Lisa remembered. “I pulled it up online and read it to my husband and said, ‘what is this?!’ It was very shocking. Then I had to tell my kids. It was very emotional.”

Searching for roots

In piecing together her and her mother’s past, Lisa would learn that Dianne, a Native American, had gotten pregnant with her at the age of 16. Later in life, Dianne became an alcoholic and a bit of a drifter, spending time in California, Utah, and North Dakota. When HD killed Dianne in November 2010, she was 62.

Dianne Travers (family photo)

“I missed her by one year,” Lisa said regretfully of her quest to meet her mother.

Lisa would also discover the identity of her birth father, Byron Johnson, an artist and architect of Norwegian descent. He had died at the age of 52 in 1993 after falling off a roof in a work accident.

Yet Lisa’s burning desire to know about her mother’s life only grew. She tracked down Dianne’s second husband, 96-year-old Jim Travers, who recalled that his wife had had a daughter. Lisa discovered both a birth certificate and a death certificate for this woman, Sabrina Del Rio, her half-sister, deceased at the age of 31 in 2003.

Querying the nursing home where Dianne had spent her last years, Lisa learned that a California woman named Donna Scott had handled her mother’s funeral arrangements.

Lisa set out to call every Donna Scott in California phone directories. She said she made about 3,000 calls.

“I was searching for someone who knew my mother and might be able to tell me about her,” Lisa explained.

Lisa also wondered if she might have more siblings.

On March 5, 2012, a Donna Scott in Los Angeles received a message from Lisa. Donna phoned her sister Lisa Hein in Alpine, near San Diego, to discuss the mysterious caller who claimed she might be a sister.

Opening up ‘a rattlesnake’s nest’

Despite her suspicions, Lisa B. was no less shocked by what ensued.

Returning the phone call for herself and Donna, Lisa Hein revealed that Dianne Travers was their mother. Both she and Donna were Lisa Boudreau’s half-sisters. Their father was Dianne’s first husband.

“I’m 47, jumping up and down on my bed, when I got the call from Lisa!” Lisa B. said. “My husband looked at me like I was kooky.”

Lisa B. spoke to each sister in separate calls. It did not take long for them to broach the subject of HD. The two California sisters recalled their mother’s struggle with HD. They also explained why their sister Sabrina had died so young: she had juvenile HD.

Sadly, the two sisters also revealed that they, too, were in the early stages of HD.

“How crazy that her name is Lisa!” Lisa H. told me. “We talked for hours that night, till 4 in the morning California time.”

Lisa H., a nurse, spoke enthusiastically about the joy of connection moment but also felt “a giant pit in my stomach” because of the “rattlesnake’s nest” of Huntington’s that she and Donna presented to their sister.

“It was bittersweet,” recalled Donna, who that same day had left her job as an insurance underwriter because of her disability resulting from HD. “We spoke for almost five hours that night. I have the message (from Lisa B.) saved. I will never get rid of it. She said, ‘I think we’re sisters.’

“We found her on adoption sites and Facebook sites. We said, ‘holy cow, she looks like our mother!’ You never know what a person is reaching out for.”

Donna Scott (left), Lisa Boudreau, and Lisa Hein (family photo)

In May, Lisa B. visited her sisters in California. In July, Donna spent two weeks with Lisa B. in North Carolina.

“When we met, it was incredible,” said Lisa B. “We looked at each other and touched each other and poked at each other. Back at the house we took our shoes off and looked at toes and fingers. We all had the same kind of birthmark on our leg. They both were upset at me because I have no wrinkles, and they have more wrinkles than I, and I’m older. They were upset that I had no gray hair, and they did.”

Their mother’s story

Lisa B. was finally learning about the mother and the family she had always wondered about.

Donna, Lisa H., and Sabrina were raised by their father Salvador Del Rio, who divorced Dianne and remarried. Whereas Lisa B. had spent her life up to March 2012 without knowledge of her sisters, Lisa H. and Donna had known since they were children that somewhere they had another sister, beyond Sabrina.

But nobody yet knew that Dianne’s father had died of HD, nor that she, too, was at risk for the disease.

Donna, who spent her summers as a teenager with Dianne and Jim Travers in Utah, talked with her mother about the daughter she put up for adoption. Later, in the late 1980s, when Dianne entered a rehab facility for alcoholics, she wrote a mini-autobiography as part of her therapy.

Reading her mother’s writing, Lisa H. understood that “it destroyed her and broke her heart” to give up Lisa B.

Lisa H. was excited about getting to know her mother better and reconnecting with her lost sister. In the hopes of finding the adoptee, she planned to have Catholic Charities send a letter to Lisa B.

Dianne, too, seemed ready for a new life. Around 1988 or 1989, she finished rehab in Utah. She took a plane to San Diego, with a connection in Las Vegas.

But at the Las Vegas airport, Dianne started to drink. She missed her connection and never made it to California.

Crestfallen, Lisa H. didn’t mail the letter that might have reached Lisa B. She didn’t want her to know that her mother was an alcoholic.

Although Donna had earlier enjoyed spending the summers with her mother, she said that Dianne became “a very mean alcoholic.” In the early 1990s, Donna cut herself off from her mother to protect herself, her son, and her husband.

Dianne was diagnosed with HD in the late 1990s. In Donna’s thinking, the alcoholism could have been both a cause and effect of the HD.

Sabrina’s short life

As Dianne exited her daughters’ lives in the 1990s, and with the family still unaware of HD, Donna and Lisa H. became increasingly worried about their younger sister Sabrina’s health and behavior.

“Looking back now, we see that Sabrina had the symptoms during juvenile years,” Donna said. “She was a dork and klutz in high school. We would call her ‘clumsy.’ She spoke with a slur. But in fact it was the HD. She started acting differently.”

In her 20s, Sabrina frequently forgot to pay her bills, and she neglected to deposit checks. Her car was repossessed for failure to make loan payments.

Lisa H., who has a substantial background in neurological research,  paid special attention to Sabrina’s symptoms.

When Sabrina could no longer function normally, Lisa H. and her husband Andrew tried to discover the cause of her difficulties.

Sabrina Del Rio (family photo)

“She came to visit us one day in San Diego,” said Lisa H. “It was late 1998. She had had ten accidents and totaled like three cars in the two years before that. I would call her house and the line was dead. Sabrina said the was power out in her neighborhood.”

In fact, Sabrina’s phone had been disconnected for failure to pay her bill.

“She was walking staggering in front of us. Andrew said, ‘There’s something so wrong with her.’” Lisa. H said. “I sat there and watched her walk: ‘Oh my gosh, she has a brain tumor!’

“I had just gotten married, and Sabrina got sick six months later,” Lisa H. continued. “She was sleeping on our couch and trying to figure out what was wrong with her. She had severe depression and anxiety. She had trouble at work.”

Sabrina left her job in Los Angeles to move in with the couple. In 1999, Sabrina tested positive for the HD gene. She was in her mid-20s.

“Lisa, nobody’s ever going to marry me like this,” Sabrina told her sister as she cried after receiving her test results. According to Lisa H., it was the only time she shed tears about her condition.

“I looked at my husband and said, ‘I’m going to have to take care of her. She’s my child. I release you. Go and get married,’” Lisa H. said. “And he said, ‘Nope, we’re going to do this together.’”

Within six months Sabrina was in a wheelchair. A year and half later, she became bed-ridden.

“Andrew and I did it 24/7,” Lisa H. recalled. “We staggered ourselves to take care of her.

“She never complained. She always had a smile and was thankful. She handled it all very graciously. A lot of times people get bad tempers and are grumpy. She stayed her sweet self. She was very grateful. She went into the wheelchair, and said, ‘Oh, what a pretty wheelchair.’”

Sabrina died in 2003, just 31.

Struggling with symptoms

Today the three remaining sisters struggle with the early symptoms of HD.

Donna has battled the depression and anxiety caused by HD. Sometimes she goes more than a day without sleep.

“I’m a very, very patient person,” said Donna, who is 46 and whose adult son is at risk for HD. “For that to change in my character, it blows me away. That’s not me. I’m not one to fight.

 “I’m living moment by moment right. I honestly don’t look into the long-term future, because I know it’s not there for me.”

Donna Scott (personal photo)

Like Donna, Lisa H. had to leave her job, where she was “triple- and quadruple-checking” herself to avoid making mistakes.

“I feel like I have a lot of difficulties with memory and organization,” said Lisa H., who is 43 and the mother of two adopted boys, whom she devotedly shuttles back and forth to school and baseball and football practices. “Everything seems like it takes me so long. I can’t even remember my nursing school graduation.

“It’s funny how your desire to have kids is so strong and crazy. Now that they’re here it makes me sadder and makes the disease harder because I wonder what I’ve done to them. We’re so happy but I don’t want them to have to see me like my sister was and spend their lives caring for me. I said to Andrew, ‘We can do this, but I want your focus to be them and not me.’ I was 100 percent fine having me go someplace when it starts to affect the kids.”

A passion for helping others

Lisa B. decided to test for HD. She felt compelled to help her four children map out their lives regarding the disease and family planning. In May 2012, her results came back positive.

“I was getting on the plane to California, with my paperwork,” Lisa B. said. “I didn’t tell my husband the results. The first people I told were my two sisters. I handed them my results after we had lunch. Back home, I told my husband. We cried and cried. I didn’t know about HD, but my sisters watched it happen. If I had found out younger, I wouldn’t have been able to handle it so well.”

Lisa believes she has experienced early symptoms such as depression, but also thinks her perceived behavioral issues could result from the post-traumatic stress disorder and gunshot wound to the head she suffered while in the Army.

“I’ve survived so much with the military,” she commented. “I’m not going to let this bring me down. It’s your attitude.”

Lisa Boudreau (personal photo)

Lisa B. has fought back by becoming an HD advocate. On January 7, she led the very first meeting of the Wilmington-area HD support group that she founded.

Another of her passions is to help reform adoption laws so that adoptees have greater access to information about birth families and are informed of potential health risks.

 “A felon has more rights to their documentation than I have as an adoptee,” Lisa B. observed.

Finding her family has brought her “inner peace,” she added. “It’s a very powerful feeling to finally feel that you’re part of something.”

However, she also recognizes that this knowledge is a two-edged sword.

“I love the family I’ve found, but now I have to carry the burden of knowing about Huntington’s and helping people understand how to handle this information,” Lisa B. explained. “I also did find my 84 year old grandmother who was married to the grandfather who had it, who passed it on to my mom.”

Thus Lisa B. is attempting to track down the many newfound aunts, uncles, cousins, and other relatives who are at risk for inheriting the HD gene.

“My grandfather had 15 more kids, the granddad who died of HD,” Lisa B. continued. “Four of my birth family uncles were incarcerated. I’m in the process of making a list and contacting these people. My aunt tells me, ‘You came back and stirred the pot.’ You have to have a tough skin when you take approaches like this.”

Any day now, Lisa B. expects to receive a package sent by her grandmother containing a painting Byron did of Dianne pregnant.

“Something that both my father and my mother touched would be incredible for me, for someone who never had my mother or saw my mother or touched her,” Lisa B. said. “If someone offered me a million dollars for that picture, I would say no.”

Throughout her quest, Lisa has had to juggle her desires with her relationship with her adoptive mother, Meredith Davenport. (Her adoptive father, Ed Meredith, died in the late 1990s.)

Meredith Davenport (left) and Lisa Boudreau (family photo)

“She wasn’t too on board with me looking,” Lisa B. said. “And I didn’t want to step on her toes. I waited until our relationship was strong enough. I wanted to look, but it affected so many people. It’s very hard mixing all these people together.”

Lisa kept Meredith “in the loop” throughout her search, she said. Meredith became upset when she learned of her daughter’s risk for Huntington’s disease, she added.

Above all, Lisa B. worries about her own children, all in their late teens or early twenties. They now face their own decisions about testing for HD.

“I told them, “You need to have this information,’” Lisa B. said of their newly revealed at-risk status. “‘Knowledge is power. You have the information I didn’t have when I was adopted.’ It’s a very personal decision. They need to make it on their own what they want to do with the knowledge they have.”

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.