With the constitutional right to abortion gone, an uncertain medical future for Huntington’s disease families

With the U.S. Supreme Court’s radical toppling of long-standing abortion rights on June 24, families affected by Huntington’s disease and thousands of other rare and neurological disorders face a profoundly uncertain future regarding medical care in the United States.

 

The majority opinion in the 5-4 decision overturned the 1973 Roe v. Wade ruling, which was reaffirmed in the 1992 Planned Parenthood v. Casey decision. Those previous rulings guaranteed a woman’s right to an abortion before viability of the fetus.

 

Now, the authority to regulate abortion has been returned to Congress and the states. The court voted 6-3 in Dobbs v. Jackson Women’s Health, confirming a Mississippi ban on most abortions after fifteen weeks of pregnancy.

 

The majority position held that the Constitution does not confer a right to abortion.

 

Complicating a heart-wrenching situation

 

HD families have relied on prenatal genetic testing and abortion to prevent passing on the genetic mutation to their children. My mother died of HD in 2006, and I tested positive for the mutation in 1999.

 

In 2000, our gestating daughter tested negative for HD in the womb, forestalling the need for us to consider abortion. She just graduated from college.

 

Sadly, many families have lost children to juvenile HD (JHD).

 

Now, access to abortion will disappear or be severely restricted in almost two dozen states.

 

“This complicates an already incredibly difficult and heart-wrenching situation for women affected by HD,” leading advocate Lauren Holder wrote me in a Facebook message regarding the abortion ruling. An HD gene carrier, Holder has one at-risk child, and other who tested negative during the pregnancy. She lost her father Stephen Rose, Jr., 62, to HD last year.

 

“If I could recommend one thing, it would be to not let [our reaction] stand as just a sad or irate post on social media,” Holder urged. “If we want this to change, we have to be willing to speak up and advocate for ourselves, for women’s rights, at the state level now.”

 

Lauren Holder (left) with her late father Stephen Rose, Jr., who died of HD in 2021 (personal photo)

 

HD sheds light on bioethical challenges

 

As I reported in 2011 (click here and here), controversy over abortion in the HD community reflects the national societal divide.

 

However, confronting HD’s devastating symptoms and stigma, our community’s early and deep experience with genetic and prenatal testing, preimplantation genetic diagnosis (PGD), suicide, assisted suicide, euthanasia, disability legislation, mistreatment by the police, a crushing caregiving burden, and other challenges have made us bioethical pioneers.

 

Those issues include human embryonic stem cell research, crucial for developing a greater understanding of HD and potential therapies. I commented on religious leaders’ concern about the research in a September 2017 presentation on Pope Francis’s historic meeting the previous May with the HD community in Rome, where he declared HD to be “hidden no more.” My family and I attended.

 

Francis had encouraged the HD scientists present to avoid research involving human embryos, “inevitably causing their destruction.”

 

“Bioethicists, both within and without the [Catholic] Church, can learn from the HD community,” I asserted. “This is not an easy issue, but it requires dialogue. Unfortunately, some media outlets focused on this aspect of the meeting, ignoring the historic moment and how Francis exuded love towards us in the HD community.”

 

Defenders of the sanctity of human embryos continue to support a ban on this research.

 

Some abortion opponents have also proposed that embryos have legal status as persons.

 

PGD in jeopardy?

 

The blistering Supreme Court dissenting opinion by the three liberal justices described the decision as “catastrophic,” taking away women’s freedoms, threatening other rights, and eroding the court’s credibility.

 

Because of the majority’s position, the dissenting justices affirmed that the Supreme Court will “surely face critical questions” about how the ruling will be implemented.

 

“Further, the Court may face questions about the application of abortion regulations to medical care most people view as quite different from abortion,” the dissenting justices wrote. “What about the morning-after pill? IUDs? In vitro fertilization?”

 

Earlier this month, in anticipation of the expected overturn of the right to abortion, HD advocate Allie LaForce recognized that changes in the laws in some states might lead her and her untested, at-risk husband, Minnesota Twins baseball pitcher Joe Smith, to change their approach to assisting families with PGD through their foundation, HelpCureHD. PGD involves in vitro fertilization. LaForce is currently pregnant after using PGD.

 

LaForce and Smith have considered the possibility of paying for families to travel out of state for PGD if they live in a place that has restricted the practice. The extra cost might reduce the number of families HelpCureHD can help.

 

A cautionary tale from Brazil

 

Previously, I noted my long study of the disturbing history of abortion in Brazil, where it is illegal except in cases of rape and incest, danger to the life of the mother, and anencephaly, a fatal condition in which a fetus lacks a complete brain.

 

Each year, hundreds of thousands of women are hospitalized in Brazil because of complications of illegal abortions, and, overall, thousands have died. This tragedy provides a stark warning for the U.S. as it attempts to adjust to the Supreme Court decision.

 

I wholeheartedly agree with the emphasis on the medical – as opposed to religious ­– nature of the abortion question. I also believe in a woman and her family’s right to choose. In Brazil, I carefully studied – and came to identify with many of the ideas of – the local version of Catholics for a Free Choice.

 

The Supreme Court does not consider letters from the general public in its decisions. In April, I had begun exploring how to contribute to an amicus brief, which can only be filed by individuals or organizations registered with the court. I hoped to send a copy of an article I had published in 1995 in The Christian Century on abortion in Brazil as well as copies my blog articles on HD, abortion, and bioethics.

 

The stunning May 2 leak of the court’s draft majority decision made any potential input a moot point. The final version largely tracked the draft.

 

Respecting individual decisions

 

In the late 1990s, during a conversation about abortion with one group of poor women in a Rio de Janeiro slum, they told me: “cada caso é um caso,” that is, each woman’s situation is different.

 

After my 2011 articles on HD and abortion in the U.S., I came to that same conclusion after reflecting on the contrasting predicaments of the couple who aborted their gene-positive child and the 20-year-old JHD-affected woman who decided to have her untested, at-risk baby.

 

In the immediate aftermath of the news of the abortion decision, I was struck by the comments of Phil Metzger, the lead pastor of Calvary San Diego, a local Christian church

 

“My reaction is mixed, which you might not expect to hear from a pastor of a church,” Metzger said in a radio interview. While the decision was a victory for abortion opponents, it was also a moment to remember those struggling with the reversal of Roe v. Wade, he observed.

 

“Every place, I don’t care what institution it is, statistically, somebody in that group had an abortion,” Metzger continued. “So we have to ask ourselves, ‘Are they my enemy?’ They're not. And whatever reason brought them to making these hard choices, God loves them.”

 

Metzger’s words echo the middle ground sought by some in the abortion debate but drowned out by the fierce political and legal battles.

 

Sadly, the “hard choices” just got immeasurably harder for many women, especially those disadvantaged by poverty and, now, distance from the states where abortion will remain legal for at least the time being.

A proud Huntington’s disease gene carrier’s message to his ‘miracle baby’ daughter on her senior year in college

 

When I tested positive for the Huntington’s disease genetic mutation in 1999, at 39, I was convinced I was doomed to repeat my HD-stricken mother’s onset of symptoms in her late 40s.

 

I had tested because my wife Regina and I wanted to plan for children, who, if I had the mutation, would also have a 50-50 chance of inheriting it.

 

We decided to have a child before the availability of preimplantation genetic diagnosis (PGD), which involves in vitro fertilization of embryos without the mutation. So, we had our daughter Bianca tested in the womb. Her negative result in early 2000 was one of the happiest moments of our life. She was our “miracle baby.”

 

Now, 21 years later, Bianca has started her senior year at the University of Pennsylvania, where she is finishing a U.S. history honors thesis. She has flourished in her classes and successfully taken on several leadership roles.

 

Bianca understood from about the age of two that her grandmother was ill with a genetic disease. HD transformed my mother into a mere physical and mental shadow of herself, taking her life at 68 in 2006. Four years later, when Bianca was 9, she learned that I, too, was at risk but that she was not.

 

I have been extremely lucky. I am almost 62 and was found to have no HD symptoms at my recent annual neurological checkup. I have perhaps benefited from the positive action of modifier genes and a far greater opportunity than my mother had – we had never heard of HD prior to her diagnosis – to prepare for the disease.

 

As Bianca navigates the challenges of senior year and prepares for post-college life, I want to provide her with a message of hope, challenge, and some of the wisdom I have picked up along my own life’s journey, including our family’s struggle against Huntington’s. My letter to Bianca follows after the photo below.

 

Regina Serbin (left), Gene Veritas (aka Kenneth P. Serbin), and Bianca Serbin at the Edge sky deck during a visit to New York City in August 2021 to celebrate Bianca's 21st birthday (photo by Devon Riley)

 

Dearest Bianca,

 

When you graduate next May, you and your classmates will come of age at a time of immense challenges.

 

I am impressed with how you (and so many other students of all levels) have shown great fortitude and flexibility when forced into the new reality of online learning and social distancing during the monumental disruptions of the COVID-19 crisis.

 

I was happy to see that this semester Penn has moved students back into the classroom, allowing you to recover some of the lost joy of the college years.

 

With the rapid development of highly effective RNA-based vaccines, many of us are reaping the fruits of the biotechnological breakthroughs of our era. Researchers are also exploring a variety of such genetics-based approaches as potential Huntington’s treatments. Because many of these advances promise to change our very nature, they will pose ethical dilemmas.

 

Our family has lived this in the flesh. The biomedical revolution made it possible for you to know your life will be free of Huntington’s. However, as you have learned, being HD-free does not mean being challenge-free. Far from it!

 

But the freedom from HD has enabled you to plan a life in which you can strive for academic and professional excellence, and to develop your personal qualities.

 

As you venture forth, remember always that you’re not going it alone. You can rely on others, just as you should be available to support others. Life is a collective endeavor, as our family has learned so well from the fight against HD. As I always tell people dealing with the initial shock of discovering Huntington’s in their families, “together we will beat this disease!”

 

In your drive for personal success, cherish the preciousness of time, as I have learned to do in confronting the fears of HD. Use ambition to push ahead, but don’t let it dominate your inner good. Always make time for family and friends.

 

Take time to meditate and cultivate your spirituality, because I believe that we all have such a dimension, independent of any belief system or organized religion. As you have done at Penn, find ways in your life to connect to something larger than you.

 

Bianca, I’m elated with how we have come to share many passions: for writing, the study of history, historical movies (especially war films), music, our dog Lenny, and our family.

 

Because of HD, your grandmother could barely hold you as a baby. Your “HD warrior” caregiver grandfather loved you deeply. I wish they could have shared your college years.

 

I have not wanted you to worry about me getting HD, which is a major reason that I have strived so hard to maintain good health – and to support the search for treatments that could save me from HD’s inevitable though often unpredictable symptoms.

 

You and Mom have joined me at Hope Walks and other fundraisers, and in 2017 you gave up the chance to attend your junior prom to take part in Pope Francis’ special audience with the HD community in Rome. I so deeply appreciated having you by my side during that breathtaking moment.

 

I am thrilled and thankful to have the clarity of mind to enjoy your progress towards graduation. You have made me deeply proud.

 

Because of our and so many other families’ dedication to the HD cause, and also thanks to the researchers, I remain ever hopeful for an HD treatment in my lifetime. If that moment comes, I know that no matter where you are geographically and professionally, we will celebrate with tears of joy.

 

I hope HD strikes me minimally and very late in life, as I have seen in some cases. Together our family has seen many people with HD fight tremendously to overcome the disease, and their caregivers devote every ounce of strength. As it has throughout our journey, the hope for both my good health and the arrival of treatments will continue to sustain us ­– even beyond the start of any symptoms that might occur.

 

No matter what difficulty, please remember that I have always treasured our great moments together and watching you grow as a person.

 

No one knows what tomorrow will bring. In this moment, let’s cherish the positive, including the fact that you, Mom, and I are healthy. As your senior year progresses, I want to celebrate our joy together as you prepare to graduate.

 

Raising you has brought Mom and me greater meaning and purpose – and, above all, lots of love to share.

 

Healthy and ambitious, you are poised, with your generation, to leave your mark on the world.

 

Congratulations on your senior year! Enjoy the ride!

 

Love,

 

Dad

 

 

 

The Serbin Family Team of the Huntington's Disease Society of America San Diego Chapter's  2014 Hope Walk: from left to right, Dory Bertics, Bianca Serbin, Jane Rappoport, Gary Boggs, Yi Sun, Kenneth Serbin, Regina Serbin, and Allan Rappoport (photo by Bob Walker)

Wonder if you’ll get Huntington’s disease? Preparing for the big, ‘intensely personal’ decision to undergo predictive testing

One of the most daunting challenges facing families affected by Huntington’s disease involves genetic testing.

Huntington’s is a 100-percent genetically caused disease, and it now can be foreseen – but not yet cured or treated. All humans have the huntingtin gene, which is essential for life. HD’s devastating, ultimately deadly symptoms are caused by a specific mutation (called a “CAG repeat expansion”) in the gene. Definitive testing for HD became available after the historic discovery of the gene in 1993.

Because every child of an affected HD parent has a 50-50 chance of inheriting the expanded gene, the mere decision to test is often frightful. A positive test result for the expansion means not only that the tested person will develop HD, but carries an added burden: the knowledge that both immediate and extended family members are also at risk of carrying the expansion.

Three scenarios

A person showing no symptoms, or suspecting symptoms, undergoes a predictive test, that is, to see whether the individual carries the expansion and therefore might have HD or later develop it. (Diagnostic testing confirms whether a person already displaying symptoms has HD. Prenatal testing determines whether a fetus or embryo carries the expansion.)

These three scenarios were poignantly portrayed in the July 3 ABC News feature “Living with Huntington’s Disease.” The 15-minute program focused on the stories of Scott and Kelsey Porter and Justin Furstenberg, who received his test result on camera (starkly reminiscent of the film The Lion’s Mouth Opens.)

The report’s detailed, deeply personal rendering of the genetic testing process also illustrated how HD families rely on supportive genetic counseling and psychological and medical assistance – as well as solid scientific information – to navigate the many challenges involved.

Scott and Kelsey Porter in a Huntington's Disease Society of America video

According to recommended guidelines, individuals like the at-risk Kelsey must prepare for this procedure by speaking to a genetic counselor and a mental health professional, and should have a support person (such as a spouse or close friend) physically present throughout the process. For testing in the United States, this “protocol” was established by the Huntington’s Disease Society of America (HDSA). It was most recently updated in 2016. Testing centers should do the utmost to ensure confidentiality, especially since news of a positive test can risk changing perceptions in the workplace and elsewhere, even if there are new guarantees against genetic discrimination.

Testing centers often intentionally slow the testing process, so that there is time for the individual to reconsider the decision to be tested, to think about the potential downside of testing, and to prepare for the impact of the result. Because of survivor’s guilt and other psychological factors, a negative test result can also prove traumatic and disruptive to a person’s relationships with family and friends.

In my quarter century of attending the local monthly HDSA support group and advocating for the HD cause, the topic of predictive genetic testing and its many implications has come up regularly. My own family faced all three modes of tests over five years: my mother’s positive diagnostic test in 1995, my positive predictive test in 1999, and my daughter’s negative prenatal test in late 1999/early 2000. (Click here for details of my family’s fight against HD.)

Based on these experiences and my study of the many related issues, this article provides an overview of key steps and resources for people preparing for HD testing, in particular the predictive type.

Helpful HDSA resources

HDSA, in addition to its genetic testing protocol, provides a brochure to HD families, Genetic Testing Huntington’s Disease, that in simple language answers basic questions about the disease, testing procedures, and resources.

The brochure emphasizes a cardinal rule that I learned early in my family’s journey with HD, and which I have repeated to other HD family members coming to grips with disease for the first time:

“The decision to undergo genetic testing is an intensely personal one that cannot be taken lightly. Testing should never be forced on an at-risk individual. There are no ‘right’ or ‘wrong’ answers. Each individual will have to take his/her own circumstances into consideration before making the decision.”

The HDSA family guide to genetic testing (copyright, HDSA)

The HDSA website furnishes valuable information on “genetic testing and your rights,” including the Genetic Information Nondiscrimination Act of 2008 (GINA). As explained on the site, GINA prohibits “health insurance companies and group health plans from denying coverage or charging a higher premium based on genetic information.” It also “prohibits employers from using an employee’s genetic information to discriminate when making employment decisions about hiring, firing, promotion, or terms of employment.”

In chapter 2 of HDSA’s A Physician’s Guide to the Management of Huntington’s Disease, leading HD specialist Martha Nance, M.D., provides additional critical information about testing and counseling. The chapter includes a detailed medical discussion of HD genetics.

A diagnosis of HD “affects the entire extended family,” Dr. Nance writes. “The person who is diagnosed with HD grieves not only for himself, but also for his at-risk children, and a young adult child caring for an affected parent understands that the parent’s disease could one day affect him.”

Dr. Nance stresses the importance of “accurate information” necessary for families to make “informed decisions” about genetic testing and family, financial, and life planning. Unfortunately, even decades after the discovery of the gene, “misinformation and misunderstandings” about HD genetics are still common, she notes.

(You can also watch a panel discussion titled “Looking to the Future: Life After Testing,” held at HDSA’s 35th annual convention, which took place online last month.)

Moving towards ‘genetic education’

In 2018, the international Huntington’s Disease Youth Organization (HDYO) added to its website a very readable “Genetic Testing Checklist,” covering key topics such as motivation for testing, coping with the test results, the testing process, and key things to do before testing, such as lining up insurance coverage (discussed below). This resource echoes many of the points made in HDSA materials.

In 2019, veteran University of Washington neurologist Thomas D. Bird, M.D., published Can You Help Me? Inside the Turbulent World of Huntington Disease, a book based on his more than 40 years’ experience seeing HD patients and their families. It includes detailed discussion of the many issues involved in what Dr. Bird calls the “genetic testing conundrum.”

Individuals contemplating genetic testing will find many valuable stories in Dr. Bird’s book. He describes the gamut of people’s reactions to testing – from individuals who have tested negative but still require a while for it to “sink in,” to (sadly) the risk for suicide among people testing positive.

“Suicide represents the cause of death in about 5-6% of persons with HD – five times higher than the national average,” Dr. Bird explains. “It can happen at any time but it is most common when a person at risk decides he or she is developing symptoms.”

Dr. Bird observes, crucially, that the “genetic test result is not black and white, all or nothing.” This reflects the latest genetic research on HD, which has demonstrated that the age of onset of symptoms is driven not just by the severity of the mutation but also by modifier genes (click here to read more).

This is why Dr. Bird stresses a comprehensive understanding of genetic counseling.

“Some people don’t like the term counseling,” he writes. “It sounds too much like psychotherapy, and they are wary of that. In fact, genetic counseling does sometimes have a heavy dose of psychotherapy, but it entails much more. Perhaps the best word would be education – genetic education.”

(I will review Can You Help Me? more fully in a future article.)

Ten key steps 

With these resources in mind, I list below ten key steps in preparing for a predictive genetic test and dealing with its short- and long-term consequences. These are my personal thoughts; this list is not meant to be exhaustive or official. Individuals should always consult their physicians. Each individual’s situation is unique.

1. Learn as much as you can about HD by studying the resources cited in this article, as well as others.

2. Join a support group, where you can learn from and share ideas with others confronting HD, as well as from facilitators and health professionals.

3. Contact the nearest HDSA Center of Excellence (or other HD or neurology clinic), where you can obtain information about testing and clinical services. You also can become involved in critical efforts towards treatments such as clinical trials and research studies like Enroll-HD. 

4. Know your rights regarding genetic testing and healthcare access under federal, state, and local law in your country of residence, and, in the U.S., learn about GINA.

5. Obtain life, disability, and/or long-term care insurance prior to testing. GINA does not protect consumers in these areas. In 1999, before testing, I was able to secure a long-term care policy with lifetime coverage. Since then, the long-term care market has gone into crisis, with many fewer policies issued, and far more limited coverage (click here and here to read more). At the time, I found it very helpful to work with an insurance broker recommended by an insurance agent specializing in long-term care who had been a guest speaker at the HD support group.

6. Set up a will, an advanced directive for end-of-life care, and, if appropriate, a living will to help protect assets. Also plan for the potential impact of HD on family finances by consulting a trusted financial advisor.

7. Research and select the testing center for your genetic test, including the cost of the procedure, which can run from a few hundred dollars to more than $1,000. (Some HDSA Centers of Excellence offer free or reduced pricing on testing. One foundation has paid for in vitro fertilization of non-HD-affected embryos but temporarily suspended grants because of the COVID-19 pandemic.) Some HD family members have criticized the quality of guidance provided at some centers. Be your own best advocate, and don’t be afraid to ask questions.

8. Find a trusted family member or friend to be your support person.

9. Build a relationship with a trusted psychotherapist.

10. Become active in HDSA and/or other advocacy organizations.

With potential treatments, an expected boom in testing

As the geneticist who revealed my test results in 1999 stated, “a positive test is not a diagnosis.” Physicians and scientists underscore this point. Like me, many people live years and even decades after their test before symptoms start.

Currently, no more than ten percent of at-risk individuals choose to be tested. The vast majority fear a potentially depressing result, “and there is no means of prevention,” Dr. Bird observes.

However, as clinical trials such as the historic GENERATION HD1 proceed, the potential for the first effective treatments has grown significantly.

Indeed, doctors and HD clinics are preparing for the likely boom in testing for the HD mutation that will occur if GENERATION HD1 or trials of other possible disease-modifying treatments are successful, as people seek to learn their status before starting on a treatment. (Click here and here to read more.)

More than ever, people seeking HD predictive testing and their families will need what Dr. Bird describes as “an experienced, compassionate team to help them through this challenge.”

Free from the threat of Huntington’s disease, our ‘miracle baby’ turns 18

I dedicate this article to my daughter Bianca Serbin.

In June, our “miracle baby,” who tested negative in the womb for Huntington’s disease in 2000, will graduate from high school and turn 18. In August, she will enter the University of Pennsylvania, to study in its College of Arts and Sciences.

It is a watershed moment, a milestone I once feared I would not reach, and a sign—though hardly a final one—that our daughter is on the road to adulthood with her family intact.

Because I inherited the HD gene from my mother, who died of the disease in 2006 at age 68, I will inevitably develop symptoms. At 58, I’m well beyond my mother’s age of onset. Each day of health is a blessing and a privilege, as I witness so many of my affected “HD brothers and sisters” struggle with the disabling symptoms.

Scientists strive to understand why people like my mother and me, with the same degree of genetic defect, become symptomatic at different ages. Although there is no scientific proof, doctors and scientists have told me that leading an enriching life – and treating my health carefully – has helped me stay healthy.

I agree. Watching HD rob my mother’s ability to walk, talk, and care for herself, I could not imagine reaching this point free of the disease’s classic symptoms. Joining my wife Regina in guiding Bianca to adulthood has provided me with a deep sense of purpose, enjoyment, and pride.

With Bianca, we have also faced crises: being HD-free is no guarantee of perfect health or a worry-free life for her. As a result, we have become closer as a family, and Bianca has matured.

Now, as Bianca prepares to enter the next stage of life, I am deeply relieved.

I had feared not being able to watch her graduate from high school. As educator parents valuing quality schooling, we sacrificed financially to put her in a top private high school to give her the best chance to succeed in life. I had worried that, if disabled by HD, I could not help pay the bills and save for college.

I also feel a deep sense of pride, satisfaction, and accomplishment: I have fulfilled some key responsibilities as a father, handing Bianca the baton of life.

Bianca Serbin (family photo)

Because of the psychological trauma of testing Bianca in the womb, Regina and I decided against further children. Raised as an only child, Bianca needed to overcome shyness and social isolation. Her high school’s strong emphasis on academics and leadership helped her blossom in these areas.

Bianca and her generation will face immense challenges beyond the first-order responsibilities of learning, growing, and finding their place in the world. They are bequeathed such daunting social problems as gun violence, inequality, anti-democratic political movements at home and abroad, global warming, and nuclear proliferation – challenges my generation has failed to adequately address. They will need to exercise great leadership and form new social movements.

I believe they will. I am impressed with, and proud of, young people such as the Parkland, Florida, shooting survivors who have organized politically, refusing to accept the tiresome and dangerous status quo on gun violence. Their movement has the potential to impact society the way the civil rights and anti-war movements of the 1960s did. Bianca and her schoolmates joined students around the country in the local-level protests against the violence.

Raising a daughter in the era of #MeToo produces great angst. Bianca will need to be strong and independent as she navigates new challenges and, as in the fight against HD, she will need to find allies.

I’m confident that, no matter what path she chooses, Bianca will help make the world a better place.

Gene Veritas (aka Kenneth P. Serbin) with daughter Bianca (family photo)

Previous generations did not have our options. After the discovery of the HD gene in 1993, Regina and I became part of the first wave of couples testing babies in the womb, and later using preimplantation genetic diagnosis, to safeguard our children from the disease.

Regina and I were especially adamant about testing because, in a cruel twist of HD, men can pass on an even greater level of genetic defect, leading some children to develop the juvenile form of the disease.

Our generation of HD families have also become more outspoken about HD, a disease so terribly hidden and stigmatized in the past. It’s still that way for many families here and around the world.

I’ve always answered Bianca’s questions about HD, wanting her to learn about the topic with full transparency, to prevent the harmful effects of denial. She was first exposed to HD at the age of two by learning that her grandmother was ill with a “boo-boo on her brain.” At age nine, she learned that I carried the gene – but also that she did not.

Since childhood, Bianca has participated in HD fundraisers and other events. Recently, she has also volunteered for the local chapter of the Huntington’s Disease Society of America.

Bianca reads this blog regularly, a way for her to deepen her understanding of HD and to tighten her bond with me. I know that she loves me and is deeply concerned about my risk for HD.

Bianca, San Diego Chargers tight end Antonio Gates, and Gene Veritas at an HDSA-San Diego fundraiser, 2008 (family photo)

Throughout Bianca’s senior year, Regina and I have begun to brace ourselves for the empty nest syndrome.

At the same time, we’re very excited for Bianca. I’m looking forward to our family trip to Philadelphia to install her at Penn and help her transition to this new phase in her life.

Meanwhile, on the HD front, much work remains to be done: along with thousands of other Americans, I still face the threat of HD. We need to realize the dream of effective treatments – perhaps even a cure – that would allow me to live to a ripe old age and, with Regina, continue to enjoy the next stages of Bianca’s life.

Kenneth, Bianca, and Regina Serbin after Bianca's induction into the Cum Laude Society (family photo)

Nora Guthrie: we’re all ‘hoping machines’ in the fight against Huntington’s disease

The cause to defeat Huntington’s disease came full circle at the recent HD Therapeutics Conference, where keynote speaker Nora Guthrie recalled the brave struggle against the disease by her father, iconic folk singer Woody Guthrie, and the groundbreaking advocacy of her mother Marjorie, the founder of the Huntington’s Disease Society of America (HDSA).

“We are the hopers and the changers,” said Nora, 68, quoting her father, to the audience of 350 scientists, drug company representatives, and family advocates gathered at the 13th annual meeting in Palm Springs, CA, in late February. “The note of hope is the only note that keeps us from falling to the bottom of the heap of evolution, because about all a human being is anyway is just a hoping machine.”

The conference was sponsored by CHDI Foundation, Inc., the nonprofit virtual biotech dedicated to developing HD treatments. Like a number of past keynoters, Nora preferred not to have her presentation recorded. She interweaved her father’s music – he wrote “This Land is Your Land” – with the family’s struggles against HD.

However, Nora agreed to an interview with me in which she reflected on the early days of HDSA – started in 1967, the year her father succumbed to HD, when she was 17 – and the progress towards treatments.

Nora Guthrie (right) being greeted by Sarah Tabrizi, FRCP, Ph.D., with Blair Leavitt, MDCM, FRCP (left) and Gregory Suter looking on (photo by Gene Veritas, aka Kenneth P. Serbin)

A vast HD ‘tribe’

I was thrilled to meet Nora. Watching and interacting with her helped me connect with a giant of American history as well as with what she called the vast HD “tribe” that Marjorie had started.

Before our formal interview, in conversations with Nora, I also relived key moments in my personal journey with HD.

After her keynote, filled with emotion, I hugged Nora, telling her that my mother had died of HD.

Nora was at first befuddled by my pseudonym, “Gene Veritas.” I explained to her that it meant “the truth in my genes,” a reflection of my condition as an HD gene carrier.

During one dinner, I told how, in the late 1990s, my efforts to get background on the disease and the cause led me to study Woody’s life and watch the 1976 film Bound for Glory, based on his autobiography and portraying his early phase as a drifting folk singer. Nora recalled her personal impressions while on the set.

“I feel a spiritual connection with you and your family,” I told Nora at the outset of our interview. “Thank you for being here, and thank you for speaking out for us, just as your father spoke out for so many people.”

Impressed with the research progress

As I proceeded to my first question, Nora interjected: “Not just speak out, but speak up.”

In that comment, and many of her other responses during the interview, Nora quoted her father or echoed his singular eloquence with her own plays on words and unique phrasing.

I asked Nora what it was like to speak to the scientists.

“For me, it was like a sci-fi movie, because coming from my early years with Huntington’s with my father in the late 1940s and early fifties, when there wasn’t one person you could talk to, not one doctor that knew anything about Huntington’s, not one social worker to help you get through it, not one support group,” she said. “Our family was kind of inventing how to deal with Huntington’s in those days. There were no pamphlets. There were no guidelines. So, we were going day to day, day by day, inventing – trying to be creative, trying to be helpful, trying to figure out even what the symptoms were.”

Nora recalled the first HD benefit concert Majorie organized at Carnegie Hall in New York City in 1968, with Woody’s musician friends

Today, Nora said, just at events like the CHDI conference, hundreds of “young, energetic, and smart” people are focused on developing treatments – all descendants of Marjorie, the “Eve” of the HD movement. To Nora, they represent hope for the community. 

Devoted to preserving her father’s legacy, Nora still seeks to combine music with HD advocacy. She described the concert she organized last summer in Berlin, gathering musicians and HD families and organizations.

“For me, the music and the art and the sciences are one group,” she said.

You can watch the interview in the video below.

A cure: when, not if 

Like all children of an HD-afflicted parent, Nora was born with a 50-50 chance of having inherited the genetic defect. In her talk, she did not broach the issue of genetic testing. We also did not discuss it in our interview. For many in the HD community, that is a private matter. 

At age 68, Nora has passed the age of typical onset. She looks to be in excellent health. According to Woody biographer Ed Cray, Nora declined testing. So did her famous brother Arlo, a musician born three years earlier. Their brother Joady tested negative for HD in the early 2000s. (Two half-siblings died of HD.)

I wished Nora and her extended family the best of health.

Finally, I wanted to know what her parents would say about the advances in HD science, if they were alive today.

"I think the most impressive thing for them is an affirmation of their belief in humanity," Nora said. "That people are interested. That people do care. That a cure is down the road. It's just a question of when, not if."