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 The HD community also has fought to improve access to Social Security benefits, denied to many because outdated government guidelines don’t account for HD’s cognitive and behavioral symptoms.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.

One year out of the terrible, lonely Huntington’s disease closet

Today marks one year since I definitively exited the terrible and lonely Huntington’s disease closet.

On November 4, 2013, my article “Racing Against the Genetic Clock” appeared online in the The Chronicle of Higher Education, the first time I shared my story in a mainstream publication (click here to read the article). It was also published in the November 9, 2013 print edition.

By revealing publicly that Gene Veritas was Professor Kenneth P. Serbin, a historian who specializes in Brazil, I took one of the most important steps in my 15-plus years of HD advocacy.

I no longer hid the potentially devastating truth about my genes: I carry the mutation for Huntington’s and will inevitably develop its deadly symptoms.

After guarding the secret of my risk for HD ever since my mother’s diagnosis in late 1995, I could fully engage in the battle against, as I wrote, “the stigma and fear surrounding Huntington’s and other neurological disorders. In so doing, I also hope to help galvanize increased support for brain research.”

I also could finally begin to integrate my academic career with my HD advocacy and my growing, profound interest in the history of science, technology, and medicine.

Gene Veritas (aka Kenneth P. Serbin) (photo by Bianca Serbin)

Big strides

Over the past year, I have made important strides in my advocacy.

With the publication of my family’s story, many people within my circle of friends and professional colleagues learned in detail about the challenges posed by orphan and genetic diseases, not just the symptoms but the serious social implications.

For the first time, I publicly raised funds for the cause, bringing in more than $16,000 to the Serbin Family Team at the April 14 Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA).

At the University of San Diego (USD), my employer, I spoke openly about Huntington’s disease. Through colleagues I even learned of other families in the area facing the risk of HD. (Click here to read the feature story on me and my family on the university’s website.)

In the spring, I participated in the first meeting of faculty members aiming to establish an undergraduate concentration in medical ethics. I’ve also discussed HD and genetic testing with a USD biologist studying the ethical dilemmas raised by genetic practices.

The highlight of my academic work this year took place at the World Congress on Huntington’s Disease from September 15-18 in Rio de Janeiro, Brazil. I gave a presentation on coping with HD. I also reported on the event and posted more than 30 videos I had shot. In São Paulo, on September 21, I delivered a speech on HD and bioethics.

As I wrote, “I felt vindicated in my decision to go fully public about HD … and meld my professional and personal lives with my advocacy.”

Concern about health care

On October 16, as the U.S. Congress voted to end the two-week government shutdown resulting from Tea Party Republicans’ attempt to block Obamacare, I published a blog article describing how I had revealed my gene-carrier status to my health plan.

At the suggestion of one of the leaders of the HD movement, I sent a copy of my article to Speaker of the House John Boehner, who has dueled politically with President Barack Obama over the Affordable Care Act.

“I am dismayed at how the national debate over health care has taken an unhealthy and highly unproductive turn,” I wrote to Boehner. “Having seen my mother succumb to Huntington’s disease, and facing the threat of that disease myself, I have witnessed firsthand, and experienced, the terrible drama of our inadequate system of care for people with neurological and other disorders that carry a large stigma…. Please do your utmost to bring better care for all Americans and create a more productive national dialogue.” (So far I haven’t gotten a response.)

On October 20, the Brazilian newspaper O Estado de S. Paulo published a Portuguese-language opinion piece by me discussing my message to Boehner and the embarrassing behavior of the U.S. political leadership. I wrote that citizens like me were anxious to see the country get back on track with its economy and health care system.

A scholar-advocate

Last night, I spoke to a good friend and long-time professional colleague who provided frequent support over the past two-and-a-half years as I prepared to make my definitive exit from the HD closet.

“Tomorrow is the first anniversary of my article in the Chronicle,” I told him.

“Are you glad you did it?” he asked.

“Of course!” I responded.

“And the sky didn’t fall!” he rejoined.

Indeed, the days of the terrible and lonely HD closet are now in my past.

The memories, however, are still fresh. And when the nation debates health care as it did again recently during the shutdown, I fear a return to that painful period of my life in which I felt compelled to hide the threat of HD.

I also know that thousands of HD families around the world remain in the HD closet – because of lack of knowledge about the disease, stigma, fear, and the devastating symptoms.

I now refer to myself as a “scholar-advocate.”

Very soon I plan to even better integrate my identity, setting up an e-mail signature with both my real name and pseudonym and links to HDSA, my blog, and my Chronicle article.

With this new dual public identity, I will forge ahead as I seek to promote collaboration in the HD community, greater awareness about the disease and its many challenges, and an end to the fear of sharing our stories.