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.

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)

A gene-positive dad’s reflections on Huntington’s disease, parenthood, and the fragility of life

Our “miracle daughter” Bianca, who tested negative in the womb for Huntington’s disease in early 2000, recently turned 13.

As my wife Regina and I have watched Bianca transform before our very eyes into a teenager, I have contemplated the beauty and fragility of this miracle of life.

Bianca’s latest birthday was doubly special: she became a teenager, and we again quietly gave thanks for her gene-negative status.

Had Bianca tested positive for HD, she might now be facing the scourge of juvenile Huntington’s (JHD), a particularly cruel form of the disease caused when a gene-positive parent, usually the father, passes on a more severe form of the genetic mutation, causing onset to occur as early as the toddler years.

JHD strikes while a person is still developing physically and neurologically. JHD can cause considerable pain, and some patients require operations for problems such as deformed limbs.

Few JHD patients survive beyond the age of 30, and some die during childhood.

Whenever I witness JHD families’ terrible struggles, I breathe a sigh of relief that we as a family avoided such an immense burden on top of my race against the genetic clock.

Nobody’s exempt from life’s challenges

However, as a father striving to provide Bianca with a safe, stable, and promising upbringing, I know that freedom from HD doesn’t mean freedom from life’s other risks. Regina and I must still help her negotiate not only the successes, but also the many challenges that lie ahead – and to know when to step back and let her handle them on her own.

We’re also aware that each day illnesses of all sorts, genetic and otherwise, strike many teens and young adults. The other day I learned that a friend’s son faces an incurable, though partially treatable genetic disorder. My heart sunk when I learned of the difficulties that await this young person.

The HD community faces many tribulations, but so many others suffer, too. Understanding this helps Regina and me to put our family’s situation in perspective.

Genetics, families, and ethics

Child-rearing provides the key to understanding a major human purpose: propagating the human species and aiming toward a brighter future.

Today the study of genetics and the search for treatments for life-threatening genetic conditions such as HD constitute a new human purpose but also new, ever-more-nuanced definitions of conception and the family.

Regina and I faced the terrible possibility of bearing a child with the HD gene. In 1999, preimplantation genetic diagnosis (PGD) wasn’t possible. Today it helps families eliminate HD forever from the family line

In the Genomic Era, families can take advantage of new scientific tools, but use of these tools also forces us to confront new ethical and moral questions.

Best strategy: honesty

Regina, Bianca, and I rarely discuss HD as a family matter, but it does frequently come up in the context of my advocacy as a volunteer for the Huntington’s Disease Society of America (HDSA) and writer of this blog.

In 2012 and 2013 the three of us took part in the local annual HDSA Hope Walk to raise funds and awareness.

Kenneth (left), Regina, and Bianca Serbin with Allan and Jane Rappoport, the Serbin Family "Beat HD" Team in the 2012 HDSA-San Diego Hope Walk (photo by E. J. Garner)

Bianca has also read several articles from this blog.

Responding first to Bianca’s curiosity about my mother Carol’s illness and eventual death from HD in 2006, I have always answered her questions about HD with explanations appropriate for her age at the moment. In so doing, I have relied on my knowledge of the science of HD and other families’ experiences with its social impact – but also on my gut.

Seeing how denial, stigma, and discrimination tear apart HD families – including parts of my own – I have always adopted a strategy of openness and honesty in discussing Huntington’s with not only my daughter, but other members of my extended family and my “HD family.”

New vistas

Parenting never ends. It requires constant attention, patience, and spousal teamwork. Each stage in the child’s life is unique and demands creativity and receptivity on the part of the parents.

During our vacation in Europe last month, Regina and I made a special effort to open up new vistas to Bianca and become closer to her. She is striving to become independent, but, even though she may not admit it, she still needs and wants parental love and attention.

Now, as we prepare to return to the routine of school, I feel great pride in Bianca’s good health and accomplishments.

However, I also worry about the many challenges of the teen years, and I wonder increasingly about her rapidly approaching young adulthood. She is just five years from entering college!

Strengthening bonds

I feel extremely fortunate to have so far avoided the inevitable symptoms of HD. An HD-free life has allowed me to enjoy my HD-negative daughter and protected her from having to confront living with a symptomatic dad.

As I await potential treatment breakthroughs, I savor every moment.

With each passing day, I become ever more conscious of the fragility of life.

However, as long as I enjoy good health, I will work to the utmost to strengthen my bonds to my family and to share the demands and joys of parenting with my wife.

Memories of genetic testing: from my mom to Angelina Jolie

My family’s experiences with genetic testing for Huntington’ disease rarely stray from my daily thoughts.

The day after Christmas in 1995, I learned that my mother had tested positive for HD, a condition I had never heard of. The devastating news that she was afflicted with an untreatable, fatal disorder set me on a quest to learn all I could about it and help find a cure.

In June 1999, I tested for HD primarily because my wife and I wanted to start a family. Sadly, I was gene-positive. That information changed my life forever, altering my career path and thrusting me into a race against my own genetic clock – and for the cure.

In January 2000, our daughter tested negative in the womb – one of the happiest moments of our lives. Now, as she enters the teen years and becomes independent, I realize how our decision to test her 13 years ago has liberated her and us from ever having to worry about HD affecting her or her own potential children.

Lately, I’ve been reliving the powerful emotions of those three experiences and reflecting on how genetic testing has both provided important life-planning tools for HD families and forced them to make the kinds of difficult decisions I have made.

When I read in an HD Facebook group about someone who has tested negative, I at first become extremely jealous and even a bit angry. Then I feel relief for that individual and his or her family and send on a note of congratulations.

When I see news of a positive test, I feel the need to offer comfort and encouragement – and to redouble my advocacy efforts.

Don’t rush, sit with your emotions

An instructive lesson on the promise and perils of genetic testing came in the presentation by genetic counselor Lauren Dennis on “HD and Genetic Counseling” at the February 25 San Diego-area support group meeting.

“Basically we’re giving you a yes or no to a situation where there’s no cure,” Lauren said as the started her overview of the counseling and protocols involved in the testing process. “We’re really looking into that crystal ball to give you that information. Once you have that information, there’s no going back. We want to make sure that you’re in a good place to get that information and be able to cope with it.”

This approach stems in large part from the risk of suicide associated with HD testing, Lauren explained.

Among many key points, she emphasized that individuals should not rush into testing.

“We don’t want this to be an impulsive decision,” she said. “Sometimes people pick up that phone and call us: ‘Gosh, I just learned that Huntington’s disease was in my family last week.’”

Such people sometimes want to test immediately, she said.

That scenario starkly reminded me of my own wish to undergo testing right after learning of my mother’s test and diagnosis for HD.

However, as I learned then, and as Lauren explained during her presentation, counselors often ask people like me to first learn more about the disease and the need to plan regarding potential issues like insurance coverage, career, and family planning

“You really need to sit with the emotions and the idea of what that result would mean for you and how it will impact your life,” she continued, referring to the required one-month wait between submitting the DNA sample from a cheek swab and obtaining the results. “You need time to do that.”

Limitations

As I listened to Lauren’s presentation and the subsequent Q&A session, I recalled the many other facets of my family’s experiences with testing.

Lauren explained that each individual or family seeking counseling is unique, so advice is offered on a “case-by-case basis.”

Ultimately, genetic testing is only the start of a family’s journey with HD, she concluded.

“That’s a huge limitation of genetic testing,” she said. “We can give you the yes or the no. We can’t tell you the when. We can’t tell you what age. We can kind of gauge from the family history – it might be similar…. We can’t tell you where, exactly what symptoms you’re going to have, or how severe they will be or how long your progression will be. That is a limitation. We don’t have that magic crystal ball.”

Lauren’s presentation is an excellent introduction to testing for any HD family interested in learning more about the process. You can watch it in its entirety in the video below.

New meaning

In definitively exiting the terrible and lonely “HD closet” over the past six months, the history of my family’s three HD tests has taken on new meaning.

As an HD advocate and historian, I’ve always had concern about the impact of genetic testing on society in general.

Now, after my employer, the University of San Diego, published an official website article on March 1 about my journey with HD, I’ve begun to implement my long-desired plan to more formally explore the history of science, technology, and medicine and link with university programs relevant to that area and HD research.

Recently I met with faculty members in charge of the university’s brand new neuroscience major. This is a hot field. Projected to take in 20 students its inaugural year, the program has already attracted some 100 students interested in the major.

In a couple years, after some careful planning and lots of research, I hope to teach a course on the history of the brain, which would be highly useful for neuroscience students. Also, as chair of my department, I am helping to lead the search for a new faculty member in the history of science, technology, and medicine who could potentially build additional bridges to neuroscience and many other campus programs situated in one of the world’s leading biotech hubs.

Medical ethics

Last month, the university posted an article about a new student-designed website, Genetics Generation, that aims to provide impartial information about genetics and engage the general public in conversations about genetics and ethics.

One of the site’s ethics case studies, titled “Huntington’s Disease and Personal Autonomy,” is like a page ripped out of my family’s story: a young, gene-positive man and his wife want to test their unborn child for the HD mutation.

However, unlike our story, this hypothetical couple encounters hesitation from their doctor, who counsels against obtaining information for a condition that may not affect the child until adulthood.

The case study ends with a reader’s poll: “if you were the doctor, what would you decide?”

Click here to read the entire case study and to register your vote.

I contacted the biology professor, Dr. Laura Rivard. The students produced the website as part of her course, Ethical Issues in Genetics. Our e-mail conversation led to an invitation for me to participate in a planning meeting for a new, multidisciplinary academic concentration in medical ethics.

As the healthcare and biotech industries continue to grow, the concentration would provide students with urgently needed perspective and reflection on matters such as the transformation of the healthcare system and issues in genetics.

I will join future planning sessions and offer my expertise on HD wherever it might be useful to students and fellow faculty.

Building these larger connections via my work as a professor will help me extend my HD advocacy to new spheres and highlight HD’s pioneering role in genetic testing and genetics research.

Walking in another’s genetic shoes

This past week the often terrible impact of genetic testing hit home once again as I heard the news that world-famous actress Angelina Jolie had revealed in The New York Times that she had undergone a preventive double mastectomy because she had tested positive for BRCA1, which sharply increases the risk of breast cancer and ovarian cancer.

I imagined how difficult it must have been to have received the news of her test, but I also felt relieved to know that medicine has found a way to reduce the risks for Jolie and myriads of others threatened with the possibility of breast cancer.

“My chances of developing breast cancer have dropped from 87 percent to under 5 percent,” Jolie, whose mother died of the cancer at the age of 56, wrote. “I can tell my children that they don’t need to fear that they will lose me to breast cancer.”

For some, the option of the double mastectomy might seem extreme, and, as commentators on Jolie’s situation noted, other approaches to combatting breast cancer do exist.

However, people should not judge Jolie. She made the best decision for her. Nobody can fully comprehend her decision until walking in her genetic shoes.

Likewise, nobody should judge HD families faced with the extremely difficult issues surrounding genetic testing and procreation.

Hoping for prevention

The minute I heard the report on Jolie, I thought of my own test – and the fact that for the HD community no preventive procedure or treatment exists.

Sometimes, HD-affected individuals, gene-positive people like me, and caregivers feel like jumping at a radical solution. We do so because of hopelessness.

My chances of HD onset are 100%. To reduce that by even half would be fantastic. To reduce it to 5 percent would be a miracle.

With the rest of the HD community, I’m rooting for the current and upcoming clinical trials aimed at testing approaches such as gene therapy, which could potentially halt, reverse, and maybe even prevent symptoms.

(May is HD Awareness Month! Learn more about the cause and donate by visiting the site of the Huntington's Disease Society of America.)