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.

Surfing through life with the spirit of aloha

To persevere against neurological diseases such as Huntington’s and the aging we all face, I have learned that it is essential to develop meaning and purpose and perform mental exercise.

 

In May 1997, just seventeen months after learning that my mother had the devastating symptoms of Huntington’s, I confided for the first time in a medical professional who was outside my local support group. Explaining my family’s predicament, I revealed to a physician in Brazil, my second home, that I had a 50-50 chance of having inherited the HD mutation.

 

Thomaz Gollop, M.D., an OB-GYN, knew about the harm caused by genetic disorders such as HD and the enormous potential for psychological trauma involved when a family learned it was at risk: in Brazil he helped pioneer genetic counseling and testing, particularly for families who wanted to conceive.

 

I had gone to interview Dr. Gollop at his São Paulo clinic about abortion, a topic I was researching. Though Brazil, a fervently Catholic country, had outlawed abortion, millions of women found ways to terminate their pregnancies, often in precarious circumstances.

 

The disturbing history of this underground practice provides a cautionary tale for the U.S. as our Supreme Court prepares in June to apparently renounce five decades of protecting legal abortion. An affiliate of the American Society of Human Genetics and member of the American Association for the Advancement of Science, Dr. Gollop has been a leading advocate in Brazil for women’s health and legalization of abortion, emphasizing the medical – as opposed to religious ­– nature of the procedure.

 

I had not yet tested for HD. Because of my risk, my Brazilian wife Regina and I had postponed having children. I saw Dr. Gollop as a shoulder to lean on. I poured out my heart about my mother’s struggles and my fear of becoming like her.

 

Dr. Gollop told me: just keep doing what you like to do until the disease hits.

 

In my journey of risk – I tested positive for the mutation in 1999, followed by our daughter Bianca’s negative test in 2000 – I have frequently reflected on Dr. Gollop’s advice by imagining the simultaneous challenge and beauty encountered by a surfer riding a wave.

 

“Just keep surfing through life!” I tell myself.

 

Celebrating our 30th anniversary in Hawaii

 

During this, Huntington’s Disease Awareness Month, we must recognize the enormous caregiving and financial burdens imposed by HD. As a result, affected families must often relinquish their dreams. Regina and I did not have more children. We gave up buying a vacation condo in Brazil. I turned down an offer of a better job at a research university in another state so that, if I were unable to work, we could rely on Regina’s secure salary and pension from her job as a public school teacher.

 

My risk of becoming disabled means we have focused on saving, to bolster my long-term care insurance policy. So we usually take modest vacations.

 

This year, though, we splurged a bit. To celebrate our 30th wedding anniversary – which I had never expected to reach with the HD-free health I have enjoyed – we traveled to Hawaii for the first time. In late March we visited the islands of Kona (the Big Island) and Oahu.

 

We found Hawaii wondrous with its primordial, balmy setting: we saw molten lava flow in the crater of a volcano and heard a resounding chorus of birds sing at sunset. Along with newlyweds and other couples marking anniversaries, we were called to the stage at a luau to slow dance to a Hawaiian love song in celebration of “ohana,” the Hawaiian word for family.

 

Keeping alive the joy

 

I was introduced to the story of the father of modern surfing, Duke Kahanamoku (1890-1968), a native of the Waikiki neighborhood of Honolulu. A dark-skinned man competing in a world dominated by white athletes and sports officials, Kahanamoku impressed the world by winning gold and silver medals in swimming at the 1912, 1920, and 1924 Olympics.

 

Also active in rowing and water polo, Kahanamoku was one of the greatest athletes of his era. Always around beaches and pools, throughout his life he also saved many people from drowning.

 

I first read about Kahanamoku in a guidebook praising the popular Honolulu restaurant that he owned, Duke’s Waikiki. Powerful local interests had always capitalized on Kahanamoku’s fame to promote Hawaii as a tourist mecca but frequently abandoned him to struggle for economic stability on his own. He opened Duke’s late in life as a way to supplement his income

 

Regina and I visited Duke’s. It has Kahanamoku memorabilia, including one of his large wooden surfboards. Outside the restaurant Regina took a picture of me in front of a giant wall photo of Kahanamoku poised to take a dive.

 

 

Gene Veritas, aka Kenneth P. Serbin, standing in front of photo of Duke Kahanamoku in Honolulu (photo by Regina Serbin)

 

I was intrigued by Kahanamoku. Returning home to San Diego, I wanted to keep alive the joy I had felt in Hawaii. Exploring Hawaiian culture and history, I thought, might build for me new dimensions of meaning and purpose.

 

Surfing king Duke Kahanamoku and aloha

 

I delved into journalist David Davis’ Waterman: The Life and Times of Duke Kahanamoku, the first comprehensive biography of Kahanamoku (and the source of my observations here). By coincidence, the moving documentary Waterman, based on Davis’ book, premiered in theaters in April. I saw it on opening day.

 

In Hawaii Regina and I were frequently greeted with “aloha,” and people used “mahalo” to say “thank you.”

 

As an official greeter of visiting dignitaries (including President John F. Kennedy) and global ambassador for Hawaiian culture, Kahanamoku spent his life spreading the spirit of aloha.

 

Davis writes that Kahanamoku “suffused” visitors “with aloha because he believed that promoting Hawaii was beneficial for fellow Hawaiians.”

 

 

Regina Serbin at Chief's Luau with flowers presented in celebration of our 30th wedding anniversary (photo by Gene Veritas)

 

Kahanamoku printed his personal philosophy on his business card:

 

In Hawaii we greet friends, loved ones or strangers with ALOHA, which means with love. ALOHA is the key word to the universal spirit of real hospitality, which made Hawaii renowned as the world’s center of understanding and fellowship. Try meeting or leaving people with aloha. You’ll be surprised by their reaction. I believe it, and it is my creed.

 

(I have also frequently encountered sincere hospitality in my years of traveling and residing in Brazil and other Latin American countries.)

 

Although highly competitive in athletic contests, Kahanamoku’s embodiment of aloha gained him a reputation as a humble victor and cooperative teammate.

 

He refused to respond to the many racist epithets he endured. He suppressed his feelings when personally attacked or taken advantage of by others so much that he developed ulcers.

 

Nevertheless, with his athletic prowess and aloha, Kahanamoku entered areas of society normally reserved for whites.

 

As Davis observes, “Many years before nonwhite athletes like Joe Louis, Jesse Owens, and Jackie Robinson fought racism with courageous performances, Kahanamoku was a groundbreaking figure who was able to overcome – some would say transcend ­– racism.”

 

The wisdom of a waterman and his people

 

For Native Hawaiians, Kahanamoku’s plight symbolized the unwanted but steamroller-like annexation of the independent nation by the U.S. (in 1893); the adulteration of the environment by settlers from the mainland; the imposition of mainland culture and language on the locals; and, ultimately, the commercialization of society in favor of tourism, plantation agriculture, and the establishment of Hawaii as a major military installation.

 

In the words of another fine documentary, Hawaii is a “stolen paradise.”

 

Not surprisingly, Kahanamoku’s extended family retained no ownership in Duke’s Waikiki, which expanded to include restaurants on two other Hawaiian islands and also in three California coastal cities.

 

Despite this history, Hawaii fortunately has maintained much of its connection to nature and cultural traditions. With aloha and their intimate ties to the land and water, Kahanamoku and his fellow Native Hawaiians (along with natives elsewhere) offer a connection to premodern humanity and the importance of solidarity.

 

That spirit resonates with the fight for human well-being fundamental to the Huntington’s cause. As I tweeted in March, “Fortitude, collaboration of #HuntingtonsDisease movement embody opposite of aggression of war in @Ukraine: caregiving, alleviation of suffering, and harnessing of science for cures. #IStandWithUkraine.”

 

A “waterman,” Kahanamoku felt most at home in the sea, the source of life and the substance inhabiting our inner parts.

 

In a time of global warming, political strife, and warfare, the world has much to learn from the wisdom of aloha and Hawaiians’ immersion in nature.

 

 

Kenneth and Regina Serbin with Waikiki Beach and Diamond Head volcanic cone in the background (family photo)

 

Negotiating the waves of life

 

Modern surfing emerged from Hawaii. The greatest surfer of his time and global popularizer of the activity, Kahanamoku did not see it as a sport. It was about his love for, and relationship with, the sea. And about pure fun.

 

“The best surfer out there is the one having the most fun,” he said. After World War II, with the worldwide explosion in surf culture, competitions, and surfboard technologies, Kahanamoku marveled at ­– and was deeply proud of ­– how it took hold. He did want to see it included in the Olympics, which finally occurred in the 2020 games.

 

I tried surfing once in my 20s but did not pursue it. At 62 and still healthy, and with the example of Kahanamoku, I have thought of perhaps trying again, if I can find a patient instructor!

 

More importantly, Dr. Gollop’s advice rings true: to stave off Huntington’s onset, I need to keep doing what I like ­– including exploring Hawaiian culture and history.

 

The thought of Kahanamoku flawlessly negotiating the waves on his board also reminds me of the need ­– with aloha ­– to find in life “the right balance between striving and chilling.”

 

This week I am balancing my disappointment over a professional roadblock with the joyous celebration of Bianca’s graduation from the University of Pennsylvania.

 

I hope that those of us in the Huntington’s community and beyond can all learn to surf through life like Duke Kahanamoku ­– and always with aloha.

 

Regina (left), Bianca, and Kenneth Serbin during graduation weekend at the University of Pennsylvania in Philadelphia (family photo)

To strive or to chill? Seeking balance in the fight against Huntington’s disease

In late 1995, after I received the shocking news that my mother had Huntington’s disease, I decided to fight back for her by learning all that I could about this incurable disorder and also advocating for treatments and a cure.

Then, after testing positive for the HD gene in 1999, I sought to save myself by finding ways to stimulate my brain in order to stave off the inevitable neurological symptoms.

As I worked to maintain my health, my HD activism grew into a full, second career parallel to my professional work, and complicating my life as a husband and father.

Two views, two necessities

“Keep striving,” a close friend wrote recently after reading one of the articles in this blog, which, for seven years, has served as a chronicle of both my advocacy and strategies for avoiding HD and, in and of itself, has provided an escape valve for my frequent anxiety about the onset of symptoms (click here to read more).

I am living a very complex paradox. I must strive, but as I do, I also must avoid allowing my activism to exhaust me physically and emotionally.

As I wrote last year, I walk an HD tightrope that requires me to very judiciously balance all aspects of my life. One slip, and I could fall off the wire and plunge to disaster.

The past year has proved exhilarating but also psychologically trying, beginning with a major coming-out speech before world-renowned HD scientists last February and ending with wrenching articles about HD and suicide, abortion, and the deaths of two girls from juvenile HD.

“You need to chill more,” another close friend of 32 years has counseled me repeatedly throughout my journey with HD.

He recommends that I “chill” as an antidote to the striving. He recommends spending less time on work, writing, and the HD movement and more on the simple, relaxing things that I could enjoy: good food and wine, books, movies, conversation with friends, walks with the dog – or just plain doing nothing.

To strive or to chill? That’s the question I face each day.

The rhythm of life

In a memorable sermon during my college years, the pastor of St. Thomas More Chapel at Yale, Father Richard Russell, spoke of the need to “get into the rhythm of life.”

As an HD activist, I especially feel that need. When I achieve that rhythm, my existence feels like the alternating phases of the heart’s cycle – pumping and relaxing over and over again.

Over the past day, that’s exactly how I’ve approached HD and the rest of my life.

This past Saturday afternoon, my wife, our 11-year-old daughter, and I took an hour-long walk in the San Diego beach community of Pacific Beach. Couples and families like us strolled, while more adventurous people on bikes or roller skates weaved in and out. The 70-degree sun bathed us all. We dined on Greek fare at our favorite restaurant, followed by frozen yogurt.

Late at night I worked on this article. This weekend, I had consciously chosen not to write on a difficult topic. I wanted to “chill.”

While I wrote, I couldn’t forget how during the previous night I chatted on Facebook for an hour, trying to help a person recently shocked by the revelation of HD in her large, extended family.

Last night I turned off the computer without finishing the article. I read for a while before turning in.

This morning, I walked door-to-door with my daughter as she sold Girl Scout cookies in the neighborhood.

What a great feeling! Watching her take charge of the sales, I recognized how much more mature and confident she has become.

I forgot not only about HD, but all my other cares.

Now, after lunch, I sit again at the computer, contemplating how I must stay in the rhythm and find the right balance between striving and chilling.

Enjoying the ride

It’s nerve-wracking to wait and wonder when and how the individual symptoms will start, especially because, at 52, I have reached the age at which my mother had already developed symptoms.

I sometimes become impatient about the rate of progress towards treatments and a potential cure.

Sometimes my fear provokes megalomaniacal thoughts about striving against HD, as if I’m a lone knight battling a fire-breathing dragon.

Then I remind myself that I cannot singlehandedly defeat this disease.

We all must get into the rhythm together: patients, asymptomatic gene-positive individuals like me, caregivers, physicians, and researchers.

And we all need to take a break from striving in order to chill.

As one of my California HD Facebook friends likes to say: when matters get rough, “go surfing!”

I don’t surf, but the thought of the power, immensity, and majesty of the ocean brings home the point: I control only a very small part of my destiny, and I might as well enjoy my ride on earth.

Seven years of striving for a realistic and unapologetic view of Huntington’s disease

This week marks the seventh anniversary of this blog.

On January 10, 2005, I inaugurated the blog with this sentence: “My name is Gene Veritas and I am at risk for Huntington’s disease.” The article was titled “Huntington’s disease: an early date with mortality.” I adopted a pseudonym – the “truth in my genes” – to protect my family’s privacy, avoid genetic discrimination, and express myself freely.

I wasn’t sure where the blog would go, but since then I have written a total of 118 articles, exploring in depth the many facets of HD.

Baring my soul

I have bared my soul about HD. I have chronicled my mother’s downfall and my devastation after her death, my father’s dedication as her “HD warrior” caregiver, and my conversations with my daughter about HD as she moved from early childhood into the pre-teen years. I inherited the HD gene from my mother but, as my wife and I thank God, did not pass it on to our “miracle baby.”

I also have tried to document the completely new, little-known, and harrowing human experience of living in the gray zone between a genetic test result and disease onset. Along those lines, At Risk for Huntington’s Disease has served as both a coping mechanism and method of advocacy. I have written frequently about my fears – and of my frenetic activity in the effort to defeat HD. For me it provides catharsis – and a stimulus to my brain in the hopes of staving off HD’s inevitable symptoms.

For a community desperate for good news, I have strived to make At Risk a beacon of hope. I have reported from the frontiers of science in articles about research conferences and potential treatments such as the effort by Alnylam Pharmaceuticals to devise a drug to stop HD at its genetic roots.

And the blog has helped me to exit the terrible and lonely “HD closet,” where I long hid because of fear of genetic discrimination. In February 2011, I gave the keynote address at the “Super Bowl” of HD research, the sixth annual HD Therapeutics Conference of the CHDI Foundation, Inc. (CHDI,backed by wealthy, anonymous donors, is the so-called “cure HD initiative.”) I posted a video of the speech in the blog. Since then I have written about other public speeches and posted videos from them.

Valuable lessons

I also have explored the many lessons gained from my fight. I have learned to put life in a broader perspective, to pay greater attention to my family, and to value the preciousness of time. Like Michael J. Fox, I consider myself a “lucky man” because of the richer life I have lived.

In At Risk, I have confronted the deep challenge to my Catholic faith posed by the threat of HD. That threat led me to explore the spiritual dimensions of my struggle, and it has strengthened my faith and expanded my understanding of life’s purpose. I embrace a new kind of faith – not one of passive acceptance of one’s condition but of active transformation of the world.

The threat of HD and my role as blogger have given me an important mission: to stop the suffering caused by brain diseases.

Difficult truths

The more I have enmeshed myself in the far-flung HD community, the more I feel the urgency of my mission.

When I write, I feel raw anxiety as I am forced to contemplate my gene-positive predicament. I share that anxiety with many in our community as they struggle with symptoms or worry about onset. The lack of an effective treatment, much less a cure, further deepens our collective fear, pushing many people into the closet and away from the research studies and clinical trials necessary for finding solutions.

Indeed, because of the harrowing nature of this existence, I often feel as if the articles somehow write themselves – as if a mysterious, hidden hand were assigning me each topic and guiding my fingers across my computer keyboard.

At Risk has stirred emotions and shed light on difficult truths in a community where silence and stigma are too often the rule.

This past year was especially intense. I wrote 33 articles, and my audience grew as I expanded my blog e-mail list and increased my number of Facebook friends to more than 2,000. In June the Huntington’s Disease Society of America named me its 2011 HDSA Person of the Year for my advocacy and blogging efforts.

In 2011, I focused on such difficult topics as HD and dating, conflict and competition within and among the various HD organizations, and the need to combat complacency to generate enough volunteers for the upcoming clinical trials.

My article about the media and the astronomical rate of suicide in the HD community prompted one activist to request that I stop posting links to my blog on a Facebook page for young people and HD.

While my training as a journalist and a historian might have prompted a response emphasizing free speech – why should someone else deny others information? – HD has a way of challenging any belief in absolutes. I agreed to let the activist serve as a gatekeeper for that Facebook page and to decide whether to post my articles.

Challenging absolutes: HD and abortion

Just last month, the issue of absolutes was tested in a way many readers found personal, and painful.

I tackled – as fairly as I could – the issue of HD and abortion, examining the cases of two families, one opting for genetic testing and termination, the other forgoing testing and deciding to carry the pregnancy to term.

Interviewing the families and writing the articles presented one of my most difficult challenges in nearly 14 years as an HD advocate. Hearing their stories stirred up sad memories of the horrible weeks of worrying and wondering as my wife and I awaited the results of our daughter’s HD test in early 2000.

I received a record number of comments on the blog as well as numerous comments on Facebook.

Some commentators described the first family as “murderers.”

“I think that posting this article glorifying the killing of a baby is irresponsible of you,” wrote one commentator who opposes abortion and hadn’t slept for two nights after reading the first article. “You are a powerful voice in our community, and I am disappointed in your blog, especially around the holiday season…. It is sad that a family who kills their baby because it has the gene for HD is glorified.”

Others warned against passing judgment, urging compassion for families facing such terrible choices.

“I really absolutely admire your bravery in exposing this disease in a realistic and unapologetic way,” wrote Stella, another gene-positive blogger, in response to the same article. “As for this family, I wish I could just hug them all.”

Combating stigma (again)

My articles led Dr. LaVonne Goodman, the founder of Huntington’s Disease Drug Works and physician to several dozen HD patients, to write a scientifically informed article on “choice and reproductive decision-making in HD.”

In this balanced piece, Dr. Goodman referred to the deep controversy raised by my articles and once again raised the crucial question of stigma and its stifling impact on HD families.

“Those who are affected by identifiable genetic disease like HD suffer not just from societal and intra-family stigma – but also from internalized stigma that we have ‘learned’ from others, and incorporated into self,” Dr. Goodman wrote. “Often internalized stigma has great negative impact on HD individuals and families…. How many decisions are made because we hate aspects of ourselves – not just the disease?

“The goal is to make life worth living: No one should answer for another whether life was, is, or will be worth living [just] because HD gets bad for a long time at the end. Instead all of us, our HD institutions, our organization, and our families should put more energy into improving treatment and care for those with HD, so that lives become more worth living. And we should work to identify, describe, and decrease HD stigma – which adds so much burden for all in HD families. And in regard to helping with reproductive decisions we should work to provide non-discriminatory support and easier voluntary access to PGD [pre-implantation genetic diagnosis] with attention to supporting the emotional and financial costs involved in this procedure.”

No need to apologize

I often wonder: how many tragic stories do we never hear because of people’s inability or unwillingness to exit the HD closet?

Indeed, because of understandable but unfortunate feelings of stigma, our community often seems timid and even apologetic – precisely the attitude that we can and should combat. Everyone can contribute to this effort – by participating in a support group, joining the local HDSA chapter or affiliate, or volunteering at fundraising events.

No one should apologize for having HD, living at risk, caring for an HD person, questioning the scientific and organizational status quo, or raising awareness!

We all rely on denial to get over the daily fear of HD, but ultimately we must compartmentalize denial and confront the truth of our existence.

No one need hide the hard reality of HD. It is a fact of our lives – and a crucial event in the quest to control neurological disorders and improve the overall health of the brain.

The next seven-year cycle

In popular wisdom, life proceeds in seven-year cycles.

Seven years ago, I fully expected that by now – age 52 and the time of onset of my mother – to have symptoms and be unable to write. I have been extremely lucky in remaining asymptomatic.

I fervently hope to proceed through my next seven-year cycle without symptoms. Until a treatment is found, this can only mean an even deeper commitment to the cause – but also to enjoying the healthy moments, the blessing of each symptom-free day.

During this new cycle, my daughter will grow into a young woman and prepare to head off to college.

Will I stave off HD in order to help her reach her goal and watch her enjoy her own life?

Or, in a darker scenario, will she become my caregiver and perhaps even shoulder the task of writing occasional updates to this blog?

These kinds of questions will haunt my days as I await news of a treatment.

No matter what the outcome, I will proceed as unapologetically as ever.

Kate's untested baby (Huntington’s disease and abortion – Part II)

Kate Sandbulte, a 20-year-old woman who lives in Iowa, long lived life to the fullest.

Her mother, Tara Hansen, recalled that Kate was “was always doing ten different things at one time.” For example, as Tara has written, Kate was a “very fast learner and was able to capture the hearts of anyone who crossed her path. She learned to walk at nine months of age and was speaking in full sentences by the time she was a year old. She grew into a feisty little girl.... She was very smart and was often found to be a peacemaker and could be found defending anyone who was hurt or sad” (click here to read more).

Kate loved painting, played basketball and the clarinet in junior high, and adored the 1960s, from Janis Joplin and heavy metal to peasant blouses and flare jeans. She helped raise three half-brothers.

“She’s always been the kind of kid who can roll with the punches,” Tara added with pride. “She never gets too upset about anything.”

Two big blows

However, Kate has faced some of the biggest blows that life could possibly level. For the past five years, Kate has had juvenile Huntington’s disease. Now she is pregnant with an unexpected child, who has a 50% chance of being gene-positive.

Although Kate could test the first trimester fetus for HD, she has decided not to. She plans to have her baby, even though both she and the child might not live beyond their mid-30s, and she and the baby’s father do not plan to marry. Fortunately, Kate can rely on her mother, who’s still in her 30s and has pledged to do all she can to take care of Kate and the child.

“She was on two forms of birth control, and it was not planned,” Tara told me in a Facebook message after I had seen her November 26 post announcing Kate’s pregnancy. “She always said that if she had HD, she didn’t want a baby because of the chance of passing it on. She cried for a week after reading the pregnancy test. She worried just as any mom would about the baby’s health and the effects of the (HD) meds she was on.”

“But then she saw the heartbeat of the baby,” Tara continued. “She cried tears of joy and is now taking better care of herself and now has hope for her baby. She said, ‘Perhaps this child can offer you comfort when I am gone, Mom.’ She knows God gives life for a reason. And no matter what – HD or not – this child will be loved, just as she is.”

Kate (left) and Tara at the HDSA national convention in Minneapolis in June (family photo)

Personal thoughts

Kate’s decision to risk passing on juvenile HD represents the other side of the coin of the wrenching decision made by the Wright family of Florida to abort their gene-positive, premature infant son and donate his brain for research towards treatments and a cure.

The first of this two-part series on HD and abortion – my article on Christina, Michael, and Timothy John Wright – provoked the most heated reaction by readers since the blog’s inception some seven years ago. (Click here to read the article and reader comments.)

Both families cited deep religious convictions as guideposts for their decisions. The Wrights are Catholic, and Kate and her family belong to a non-denominational Christian church that stresses love and the equality of all people.

As I interviewed and wrote about the two families, it stirred difficult memories of my wife’s and my decision to test our daughter in the womb in the winter of 1999-2000, just six months after I had tested positive. Luckily, our “miracle baby” tested negative. She is a thriving sixth grader now applying to college-prep schools.

I told the Wrights that I supported their decision.

I also support Kate’s decision. During my phone interview with Tara, I congratulated her and her family on the pregnancy and expressed my wishes for a healthy baby.

Kate can still talk but preferred that her mother answer my questions. HD has already compromised her ability to communicate clearly, Tara said. “I’m kind of like her safety net,” she added.

Along with the rest of the HD community, I sincerely hope Kate’s child is HD-free.

“Both stories need to be told,” Tara said. “They bring up a lot that people don’t want to talk about.”

Rejecting rigid views

My support for both families may appear contradictory to some with rigid or black-and-white views, but, as I pointed out in the previous article, “the disabling, ultimately deadly nature of HD further complicates” decision-making. As my wife put it, “Nobody knows for sure until they’re actually faced with the decision.”

Indeed, all of our stories reveal the tragedy of HD and touch on larger controversies about abortion, suicide, and mercy killing.

One participant in the debate over the Wrights subsequently recalled on Facebook the case of Carol Carr, a Georgia woman who in 2002 shot dead two sons who had been confined to a nursing home with late-stage HD. She was convicted of assisted suicide and released on parole two years later. (You can view a documentary about the Carr case by clicking here.) The Facebook commentator seemed to become less rigid in her critical view of the Wrights.

Dead at 33

Living in a small town, Tara and her ex-husband Jeff Sandbulte had Kate when they were, respectively, just 18 and 16. Jeff had told her that his parents had died. In reality, Jeff’s father was already in a nursing home with HD, Tara said. He would eventually die in his forties.

Jeff also had juvenile HD. “We started dating,” Tara said. “I got pregnant with Katelyn. I didn’t know a whole lot about the disease. I had never even heard of it.”

Tara didn’t perceive Jeff’s symptoms at the time, but in hindsight she now understands that he clearly had HD. “Knowing what I (now) know about HD, yes, he did show signs, like lack of impulse control, losing weight, sleeping a lot, and loss of temper,” she said.

Jeff and Tara married in 1993, but the relationship became rocky, and she left him a year later. According to Tara, Jeff went to prison for a number of years and had virtually no contact with Kate and Mikey, the couple’s second child. Mikey, in fact, only saw his dad once. The couple officially divorced in 1996.

In 2000 Tara, a veterinary technician, remarried to Mike Hansen, a cement truck driver. They have three children together, six-year old Landon, five-year-old Shawn, who has Asperger’s syndrome, and four-year-old, Gabe, who was premature but is now thriving. Tara also suffered a miscarriage of twins in 2007.

Jeff died in 2006 at the age of 33. Other members of the extended family have also fallen victim to HD, including a deceased cousin of Kate whose symptoms started at 14 and another cousin, now 30, who resides in a nursing home.

Struggling with risk

More than Kate, Mikey grew up worrying about HD, because of his biological father’s situation. She showed more concern for him than for herself.

“She was very supportive of him as he was going through it,” Tara said. “Her deepest fear was that Mikey would have it. He was sure he had it because his biological father had it.”

Even Mikey’s doctors thought they saw signs of the disease. (Untested, at-risk people often act out symptoms, as do gene-positive, asymptomatic people like me.)

Perhaps because he saw his future compromised, Mikey hung out with people who were bad influences and letting his grades slip. After he became addicted to pain killers, Mikey had to enter a treatment program, Tara said.

An HD-free brother

HD testing centers usually advise against testing minors for HD because of the severe psychological impact of the potentially devastating information. However, in Mikey’s case, the family decided to test him in July 2009, when he was 16, because the prospect of HD had subjected him to enormous psychological pressures.

However, the medical profession has not fully grappled with the need to provide genetic testing information with sensitivity and competence. As I pointed out in the previous article, the Wrights received their baby’s test results in an unprofessional manner. Mikey suffered a similar fate.

A staffer from the doctor’s office called the family and asked for “Mike,” not identifying him by his last name. But it was not Mikey Sandbulte who answered the phone, but Mike Hansen. He was abruptly told his test results were “negative. If you have any questions, please call.” The staffer then hung up.

“They didn’t even make sure they had the right person on the line,” Tara said with indignation, noting that the proper procedure would have involved visiting the testing center and meeting with a geneticist and social worker so that the information – even happy information like a negative test – could be processed in person. The social worker became “irate” when she learned what happened, Tara added.

Luckily, Mikey was still at the drug rehab clinic. The family took his girlfriend Andrea to the clinic so that she could break the good news.

“He hit the ground on his knees and kept saying, ‘Oh, my God!’ He said, ‘I can’t believe it.’ It was like this big weight lifted off his shoulders. His whole demeanor changed – everything.”

Today, free of the spectre of HD, Mikey not only went through rehab successfully but has remained drug-free.

Kate’s onset

Like her brother, Kate also showed symptoms starting at the age of 15. In her case, she wasn’t acting out.

“That’s when her personality changed,” said Tara. “When she turned 16, she went through a terrible weight loss. She was at 130, and she went down to 98 pounds in a three-month period. We as parents are thinking, ‘She has an eating disorder.’ She would eat all the time.”

Her family also noticed periodic tremors in her hands.

HD patients typically lose weight, as did Kate. Scientists suspect the cause stems from energy shortages in the body’s cells caused by the defective huntingtin gene, as well as chorea, the constant shaking and dancelike movements most patients develop.

Kate (family photo)

Kate struggled in high school and ended up attending an alternative school. She had difficulty remembering things, too. “Hindsight is 20-20,” Tara recalled, “but at the time we thought Kate was just an airhead.”

“I look back now and I can remember struggling in school and being angry that I could not ‘get it,’” Kate wrote in her blog. “We had meetings with my teachers and I would tell everyone I was trying. I was sleeping a lot and skipping school. I was trying but for some reason it just would not stay with me. I know I was mad about that. I got mad at Mom and Dad for not understanding. Up to this point I had been an honor role student in all but math.”

Still the same person

Just a few months after Mikey’s genetic test, Kate and her family braced themselves for another test.

In October 2009, at the age of 18, Kate received her results, which confirmed the symptoms she had been showing and pointed to an ominous fate. Whereas a normal huntingtin gene has only ten to 29 CAG repeats, Kate’s has 57, a number that most surely will doom her to an early death like her father, grandfather, and other relatives.

However, Kate took the test result in stride.

“‘Hmm. Thanks.’ That is all she said,” Tara recalled. “She said, ‘It doesn’t change anything. I’m still the same person I was yesterday.’ She was working part-time at a local gas station. She went into work. She said that her test had come back positive. They said to take off and go home to be with her family.”

As for the family’s reaction, “we followed Kate’s philosophy,” Tara added.

Experiencing life

It wasn’t that easy, however. Two weeks after her test, Kate lost her job because of her difficulties with memory.

Despite the progression of the disease, Kate graduated from high school.

“She walked across the stage and got her diploma,” Tara said with pride.

After high school, the family helped Kate move into her own apartment so that, in Tara’s words, she could “experience life the best she could” before the symptoms worsened. To avoid the chance of an accident resulting from the loss of coordination typical in HD, Kate started driving less. Yet she still enjoyed being a “typical young adult,” spending time with friends.

Shawn (left), Gabe, and Kate (family photo)

Kate and her family then moved into another home equipped with features that would facilitate future caregiving needs, including a large bathroom and wheelchair accessibility.

With the help of Iowa’s Center of Excellence for Family Services and Research of the Huntington’s Disease Society of America (HDSA), the family obtained Social Security disability benefits for Kate. She now receives a monthly payment of $426. Medicare and Medicaid cover her medical bills.

Failed birth control

At a town celebration, Kate met a 29-year-old man named Billy. They started dating.

“The average person wouldn’t know that she’s disabled,” Tara said, explaining how it was natural for Kate to relate to men. “She has chorea and twitches, and she’s terribly forgetful. Other than that, she’s just a typical 20-year-old kid.”

To avoid pregnancy, Kate took Depo-Provera, a birth-control shot. She also took a low dose of a birth control pill in order to help reduce cramping and regulate her menstrual cycle.

Then both Kate and her mother took note of a missed period.

“I pulled into Walgreen’s and got a pregnancy test as a joke,” said Tara. “I didn’t think she was going to take it. She came out of the bathroom. She said, ‘It’s positive,’ and she started crying. I gave her a hug, and we just sat there.”

Kate’s baby is due on July 4, 2012.

‘In God’s hands’

Kate, Billy, and Tara met with a genetic counselor. Tara mainly stayed “in the background,” letting the young couple experience the happiness and worries of first-time parents, she said. The counselor informed them of the 50-50 chance that the baby would inherit the HD gene, but he did not advocate a course of action. The counselor said there was “no right or wrong answer,” Tara recounted.

Kate made a firm decision against both testing and an abortion.

“Even if she did test the baby, she wouldn’t terminate the pregnancy,” said Tara. “It was a struggle at first, after learning of the pregnancy. Once she saw the heartbeat, it was okay.”

Tara reviewed the options with her daughter, including abortion. “I don’t hide things from her,” Tara said. “I tell her that with juvenile HD, it could come on stronger and earlier in the baby.” Kate told her mother she was being “negative,” but Tara responded by emphasizing that she was simply laying out the facts.

“We just leave it in God’s hands,” she continued. “I can’t control HD. We all wish we could, but we can’t. In dealing with my little boy with autism (Asperger’s syndrome), people ask me if I knew, would I terminate my pregnancy. I say no.”

As for how the family will deal with so many potential caregiving burdens, Tara said that “we trust in God. The baby may not have HD. Shawn is high-function and our goal is for him to be a productive member of society. We will deal with the issues as they come up.”

Avoiding another pregnancy

After the baby is delivered, Kate and her family will take decisive action to avoid a future pregnancy.

“Kate is going to be sterilized,” Tara said, explaining that her daughter will undergo a tubal ligation, a procedure Tara also had after her last child’s birth. “She asked for this, and the doctor and I both support her choice – and even agree with it.”

Tara stressed that Kate initiated this plan and was not manipulated in any way. In fact, before Kate got pregnant, the mother and daughter had already discussed this possibility, although Kate declined at the time to have the procedure.

“It’s a choice that she’s making, because of the birth-control failure,” Tara explained. “She doesn’t want to go through the stress again of worrying about another baby."

I wanted to know if, in Tara’s opinion, sterilization violated God’s will in any way. She didn't think so. On this point she agreed with the Wrights, who believe that medical technology and procedures are “instruments” of God.

‘Preparing for war, praying for peace’

I wanted to explore more deeply the risk Kate is taking by not testing the baby. I asked Tara: wouldn’t a negative test put your minds at ease? And, without an abortion, wouldn’t a positive test help Kate and the family provide the best care possible for a diseased child or teenager?

“We did talk about this,” Tara responded. “Kate asked, ‘What would you do to prepare? What would the father do to prepare?’ He said: learn more about HD.”

Tara met with Billy and his mother to discuss the pregnancy and plans for raising the baby, especially because he and Kate will not marry.

“We as a family group need to be able to support that child,” Tara told me. “I said, ‘It doesn’t make a difference if it has HD or not.’ The end result of caring for the child and loving the child is going to be the same.”

In August, Tara obtained legal guardianship and conservatorship over Kate. These legal powers will also allow her to make decisions for the baby.

“In the end, I could force the issue if I wanted to, as her guardian,” said Tara. “But I’m going to respect her. Katelyn had 18 beautiful years without knowing (about HD). Life was what it was. Even now, she doesn’t think every day, ‘Oh, I have Huntington’s.’ That’s the way she wants her child to be raised.”

She summed up their strategy with these words: “We prepare for war, but we pray for peace. We prepare for the worst, but pray for the best.”

A plea for togetherness

After posting the news of Kate’s pregnancy, the family saw messages of support, but also what they termed “unkind remarks.”

For example, the Wrights criticized Kate for not testing the fetus and exploring their options.

Tara believed that the Wrights were “judging Kate.” According to her, they thought Kate was “selfish and hateful to carry a baby to term without getting it tested, that Kate had no right to give birth to a child that may or may not carry the HD gene.

“Kate was angered and hurt, as I was, from the post. When the other lady terminated her baby at 20 weeks, we supported her. We offered our prayers and love.”

When the Wrights received harsh criticism for their decision, Kate and her mother still stood by them. “I don’t agree with their choice but I ask our HD family to show the Wrights the same love you do to those of us who have a child or children living with JHD or HD,” the mother and daughter wrote.

Facing such extremely difficult situations, Tara told me, each family should make its own decision. She felt sad that “people showed anger and almost hatred toward somebody, especially when we’re fighting this horrible disease. The disease affects us all, and we should stick together.”

“In the end, it’s nobody’s business,” she said. “At the end of the day, it is up to the families, and each family has their own set of beliefs and morals. It is really up to the families to make the decisions for their loved ones, with or without society’s okay.

“I just want people to know: there are other options (other than testing and abortion). Do I understand where the Wrights come from? No. But I don’t judge them.”

A special gift from Landon

Kate, Tara, and the rest of the Hansen family are now turning their attention to welcoming a new member. Tara reports that Kate is doing well, although she consults with an obstetrician-gynecologist specializing in high-risk births.

“We’re planning on Kate doing what she can and us helping out where we can,” said Tara of the family’s post-birth plans.

They also hope to raise awareness about the need to cure HD in order to end the suffering endured by Kate, the Wrights, and the thousands of families afflicted by the disease.

Landon, the "Button Boy Fighting Juvenile Huntington's" (family photo)

Yesterday an early Christmas gift arrived at my home from six-year-old Landon. Landon makes HD bracelets and key chains. He sells them, as well as buttons promoting the HD movement. Last June, he even joined Kate and Tara at the annual HDSA convention in Minneapolis. Since then he’s raised $1,500 for the cause.

Tara told me that Landon is determined that his dollars “will find the cure.”

Landon sent my family a box with a couple bracelets, about a dozen buttons, family photos, and pamphlets and business cards for his work as the “Button Boy Fighting Juvenile Huntington’s Disease.” (You can contact Landon’s family at tanyon_24[at]yahoo.com. To donate, make checks payable to Landon Hansen and mail to 102 1st Avenue, Doon, IA 51235. All proceeds go to juvenile HD research at the University of Iowa.)

My daughter and I inspected the package’s contents.

“How old is he?” she asked incredulously.

“He’s six,” I responded.

She selected for herself a mini-button with the words “I Love Someone with Huntington’s Disease.”

“We have to spread the word,” Landon told his mother about his gift to us. “The more people understand, the better.”

An angel fighting for the cure (Huntington’s disease and abortion – Part I)

Lying in a hospital birthing room, Christina Wright held her premature infant son Timothy John awhile in her arms and, after he died, handed his tiny body over for research that might help save her husband and thousands of others from Huntington’s disease.

On August 28, 2011, Timothy became an “HD angel,” yet another mourned but deeply loved victim of this killer brain disease. His brain was donated to a tissue bank at the University of British Columbia’s renowned research program on Huntington’s.

After the fetus tested positive for the abnormal gene that causes Huntington’s, Christina and her husband Michael prayed at their local church in Coral Springs, FL, and then decided to abort their child in the 22nd week of the pregnancy. Hoping all along that they might carry the baby to term, they had already given him a name.

For more than ten years, Michael has helped care for his 54-year-old mother Gail Suvino, now residing in a nursing home with late-stage HD. In October 2010 Michael himself tested positive for the disease. He is 34, and he worries constantly about when his own symptoms will start.

Christina and Michael Wright (family photo)

The ‘toughest decision’

Christina and Michael could not bear the thought of their son facing the threat of a life burdened with severe disabilities and ultimately cut short by years, if not decades.

“It was very hard for me,” Christina said with great emotion in a phone interview on December 8. “I didn’t know that he was going to be born alive. He was strong and a fighter and wanted to live, and that breaks our hearts.”

“He looked just like me when he was born,” said Michael, who had stood by Christina during the birth. “He had my big feet and chicken legs.”

“This was the toughest decision we ever had to make,” he continued. “I bring it up every day. A lot of people don’t know what this disease does to a family. It does massive damage to a family.”

A birth with a research goal

With medical assistance, a baby delivered at 22 weeks would have a 10 percent chance of survival, explained Christina, a pediatric nurse. Because this was an abortion, the medical team did not intervene to save Timothy. He died of heart and lung failure.

“I did not have a clinical abortion,” Christina said, noting that in a standard abortion the mother is put under anesthesia and the fetus terminated and removed in pieces with the help of forceps. Under those circumstances, the brain could not have been used for research.

“I went through the birth to be able to donate the brain,” Christina continued. “The doctors did insert pills into my cervix to induce my labor. I pushed him out. I delivered my son with the purpose of fighting this disease.

With great pain in her voice, Christina spoke of how she will miss her son.

“No one wants to hurt their child,” she said. “We loved him so much. We always will. Even if we have ten children, we’re always going to be missing one. He was our son and always will be. We have pictures of him. We have his ashes in an urn. He will live in our hearts forever.

“I feel like he’s fighting in a different place,” she added. “He’s my husband’s angel. My son can help save my husband. He’s a warrior. I couldn’t be more proud as a mom, to know that my son helped find a cure to beat this. Some moms want their children to be a doctor or a lawyer. Mine might help find the cure for a disease that destroys families.”

Painful memories of another test

When I read Christina’s Facebook posting about Timothy on August 29, I felt terrible. I decided immediately that I would soon write an article for this blog about their plight. This is the first of two articles about HD and abortion.

Never an easy decision, abortion is even tougher for people of faith like the Wrights and a pediatric nurse like Christina. The disabling, ultimately deadly nature of HD further complicates that decision.

Interviewing the Wrights was one of the most difficult moments in my 13-plus years as an HD activist.

Listening to them sent my mind reeling back to the winter of 1999-2000, when my wife and I tested our own baby for HD in the womb six months after I had tested positive for HD. As I told the Wrights, their experience closely resembled ours – except for the all-important fact that our daughter tested negative.

As I pictured Christina holding Timothy, I imagined what it would have been like if our daughter had died in her mother’s arms immediately after birth.

I can’t find the words to describe the pain I felt. I shared our family’s story with Christina and Michael. I told them that I supported their decision and thanked them for donating Timothy’s brain for such a worthy cause. “I appreciate that,” Christina said.

In recounting the interview to my wife, I explained how the Wrights had oscillated between continuing and terminating the pregnancy. I then recalled our own situation. “Nobody knows for sure until they’re actually faced with the decision,” my wife said. I agreed.

An HD-free child

I am immensely relieved that our “miracle baby” is HD-free.

On several evenings this past week she and I happened to watch a recording of The Heart of Christmas, a new feature film based on the story of Dax Locke, a toddler whose battle against a rare form of leukemia mobilized the community to support his family and celebrate Christmas early so that he could enjoy it one more time before he died in 2009. Thinking of the Wrights, I felt so privileged to share these moments with her.

Last Saturday morning, after we accompanied her to a testing center for a private school entrance exam, I reflected on her progress in life and her immense potential.

The most powerful drive in life – more than the sex drive or anything else – is the need to nurture and protect a child. No calamity wounds a family more than the death of a child.

An imperfect situation

The Wrights’ story reveals the tragedy of HD, the wrenching decisions it forces upon families, and the imperfect conditions under which they must make and carry out those decisions.

After meeting through Match.com and dating awhile, Christina and Michael married on St. Patrick’s Day of this year. Michael, a beverage merchandiser who had to quit college in part to help care for his mother, had revealed to Christina that he had tested positive for HD but so far had not symptoms. Christina witnessed the tough reality of HD by meeting Gail.

“A lot of people would run the other way,” Michael said. “She really loves me.”

Christina, now 38, had been told by doctors that she couldn’t get pregnant because of an irregular menstrual cycle since the age of 14 and, later, ten years of failed attempts to conceive in a prior relationship. She and Michael didn’t use contraceptives.

The pregnancy caught the Wrights completely by surprise. Thus they hadn’t had the opportunity to seek genetic counseling, nor could they resort to PGD (preimplantation genetic diagnosis), which would have allowed them to choose embryos without HD for implantation into her uterus.

Pondering the results

An amniocentesis was done on the baby at sixteen and a half weeks, the earliest possible moment. But the results of the HD test took three more weeks to arrive.

Michael’s abnormal gene has 42 CAG repeats, whereas a normal huntingtin gene has only ten to 29. Those extra repeats cause the disease. Timothy had 40 repeats. Statistically speaking, Michael, who is 34, will probably develop symptoms sometime in his forties or fifties. Someone with 40 repeats might develop them a bit later, although, according to Michael, Gail’s symptoms started around the age of 36 or 37, and she has only 36 repeats.

Although they are finding more clues, scientists still don’t know exactly how and when the disease starts. Anybody with 40 repeats or more will definitely develop symptoms at some point.

The Wrights had learned that the child of a gene-positive man has a much greater chance of developing juvenile Huntington’s disease, which can start as early as the toddler years. But that’s because the father can often pass on more repeats, whereas a mother usually passes on her number. In this case, Timothy actually had fewer repeats.

“I almost don’t want to know that, if that’s the case,” Christina told me after I explained my understanding of that connection between repeats and juvenile HD. “We very much wanted our baby. We feel that we gave him back to God, especially because we’re Catholic.”

‘We were bonding’

The process of learning about their child’s fate was awkward. The Wrights received the results of Timothy’s HD test from an on-call obstetrician, rather than from their regular doctor, who was out of town. No social workers or geneticists were on hand to help clarify the information, and it was the first time the obstetrician had ever advised a patient on an amniocentesis involving HD.

The Wrights faced additional time pressure because in Florida a fetus at 24 weeks is considered viable, Christina explained. Had Timothy reached that age, the couple would have had to travel to another state for an abortion.

“We were both crying and both devastated,” she said of the impact the news of Timothy’s gene-positive result. “It was very difficult for us. I didn’t think God would give us more than we could handle, and so I wanted to have our son.

“It wasn’t just a pregnancy at that point. It was our son. We saw his picture on the ultrasound. I was gaining weight. I could feel him move. We were bonding with him. We started picking names. It was just very hard.”

Medical advice

But the obstetrician told her that she “was being selfish and not considering the life of the child” if she went through with the pregnancy, she said.

Other doctors that the Wrights knew at the University of Florida in Gainesville – where Michael travels regularly to participate in an HD research study – couldn’t tell the couple when the symptoms would occur and how bad they might be.

“We wanted to consult with them,” Christina said, explaining that they spoke with these physicians via cell phone. “Their opinion meant more than an obstetrician’s. They agreed that it would be better not to have the child.”

She added that these doctors did not mention the relationship between the CAG repeats and the age of onset.

All of the doctors led the Wrights to conclude that they would have a “sick baby,” Christina said.

Timothy’s purpose

Sitting in a pew at their church, the Wrights prayed and cried for more than an hour. The parish priest appeared and asked what was wrong, and, without mentioning HD or a genetic test, the couple explained that they had gotten “bad news” at the doctor’s office and would have to deliver their child prematurely.

“He came into our room (at the hospital) and said a prayer and held our son and put some holy water on him and christened (baptized) him,” Christina said, adding that Timothy was probably dead at that point. “It was very touching for us.”

Timothy lived for about 90 minutes. The medical personnel needed to get his brain on dry ice in 30 or so minutes, and they shipped it to the University of British Columbia’s Huntington Disease BioBank. There scientists study tissue samples to understand “the way DNA changes associated with Huntington’s disease affect the actual physical characteristics and proteins of the brain and tissues.”

“That was one thing we were adamant about,” Christina said. “If we were going to lose our son, we wanted something to come from this.

“We’re not ashamed of what we did. We just want to help find a cure.”

The couple wants to share their story to raise awareness about Huntington’s and support the quest for a cure not just of HD, but other devastating neurological conditions such as Alzheimer’s and Parkinson’s, Michael added.

Timothy is now part of that quest.

“We felt that was his purpose,” Christina said.

Opinions on testing

The Wrights still want a child and are now saving to afford PGD, which can cost upwards of $10,000 and even twice that amount, depending on the circumstances. Their insurance doesn’t cover it.

They believe that PGD is “the responsible thing to do,” Christina said. She strongly disagrees with families that, when pregnant, choose not to test for HD via amniocentesis.

“With all that science has to offer, it’s (also) the responsible thing to do,” she said.

“Just think about the long-term effects if they don’t do the right thing,” Michael said. In using the latest scientific techniques, he and Christina aren’t seeking the “perfect baby, but a healthy baby,” he added. “You owe it to your family” to assure healthy genes, he said.

“God gives us these vessels, these instruments, this technology to guide us and help us along, especially in the medical field,” Michael said. “Don’t go through it blind-folded.”

More HD families need to “come out of the closet,” Michael continued. HD is “not something to be ashamed of. People look at Mom and think it’s a stroke. It hurts."

Learning from the Wrights’ example

In concluding the interview, I told Michael that he and I were “brothers” in the fight to stay healthy and support the cause for the cure. I told Christina that she was my “sister” in the cause.

I’ve been meditating on Timothy and his parents. I pray that others don’t have to face their terrible predicament, although many surely will until the medical community achieves greater awareness of the genetics of HD.

Ultimately, effective treatments or a cure would liberate people from this predicament.

We can learn much from Timothy John Wright. His parents gave us his brain for research – to serve the greater, common good. Understanding the bigger picture, Christina and Michael committed the ultimate act of human solidarity.

We in the HD community also need to see the greater good. Whenever possible, we need to participate in research. To do so, we must exit the terrible “HD closet.” I myself remained pseudonymous, in the closet until 2010, and in February of this year I came out by delivering the keynote speech to HD specialists from around the world gathered at a key conference in Palm Springs.

As Michael pointed out, we need to rise above the difficult feelings surrounding HD and gain heart from the fact that our participation in the quest for treatments and a cure is helping to create the dawn of a new era. Along with the scientists, we are taking a quantum leap in the study of the brain. We are the pioneers pointing the way to better brain health. We are doing something profoundly good and important.

From suffering to progress for all

In the past, many people – including my own family – have viewed HD as a matter of suffering. But today, with scientific progress, HD is about the human quest for a longer and more fulfilling life for all.

In the Bible, Abraham was willing to sacrifice his own son in a sign of complete commitment and love. Our collective human sorrow is captured In Michelangelo’s Pietà, with Mary holding the body of her son Jesus after his crucifixion.

Michelangelo's Pietà, in St. Peter's Basilica in Rome


The mini-urn containing Timothy's ashes (family photo)

We in the HD community are all Timothy John Wrights in our mothers’ arms.

Indeed, we in the HD community endure great suffering. “You think, ‘God can’t be that cruel,’” Michael said.

But, like the Wrights, none of us should feel ashamed. This community has lots of love – and it shows it just as the Wrights have done.

(The second part of this series will tell the story of Katelyn Sandbulte, a 20-year-old juvenile Huntington’s disease patient in the first trimester of pregnancy.... At this special time of year, please remember to donate to the Huntington’s Disease Society of America.)