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.

Passing on the Huntington’s disease advocacy baton to the next generation

In the fight against Huntington’s disease, a familial condition that can plague generations, each generation must pass on the advocacy baton to the next.

I feel as though I've started my handoff to my daughter Bianca.

HD has profoundly affected my family in multiple ways. My mother was diagnosed with HD in 1995 and died from it in 2006 at age 68. I tested positive for the genetic defect in 1999, and have been racing against the genetic clock ever since. Bianca, thankfully, tested negative in the womb in 2000.

At 57, an age when my mother had chorea (involuntary movements) and severe cognitive loss, I am blessed to have remained symptom-free. However, because HD gene carriers inevitably develop the disorder, I know that, unless scientists discover an effective treatment, I will someday become ill.

HD families must stick together to confront the devastating symptoms, caregiving demands, and difficult challenges the disease brings, but it’s by no means easy.

Avoiding the denial that prevents family solidarity and feeds ignorance about the disease, my wife Regina and I have revealed to Bianca at appropriate moments how HD has impacted our family. We have done so gradually but always honestly. Often, we spoke about HD in response to her questions. (To read more, click here and here.)

Gene Veritas (aka Kenneth P. Serbin) with daughter Bianca and wife Regina (2016 family photo)

A biology assignment

Now 16, Bianca is a healthy and vibrant high school junior. She has frequently read this blog and over the years has participated in several fundraising events for the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego).

Her gene-negative status means that the threat of HD stops with me. Of course, she is concerned about my health, and she is deeply saddened by the plight of juvenile HD patients. She has volunteered for HDSA-San Diego.

Last week she worked on an assignment for her high school biology class titled “A Day in the Life: A Study of Human Genetic Disorders.” From a list of diseases, she chose HD. Drawing on medical and scientific sources, she wrote a four-page summary of the biology of HD, symptoms, its rare status, age of onset, and potential treatments.

Life with HD

For the required creative component of the assignment, Bianca wrote an imaginary patient journal titled “Life with Huntington’s Disease,” from the perspective of this blog, her conversations with me, and her observations over the years.

Bianca captured the sadness, anger, and fear associated with HD. In one excerpt, she wrote:

Today was a bad day. It has been hard lately to ignore HD. I wish I could say I don’t think about it all the time, but I do. Especially now that Mom is getting worse. She can barely walk at this point. Dad helps her eat, shower, use the bathroom, and dress herself. It’s hard for me to see my mom act in a more childish manner than my three-year-old daughter. It’s hard for me to see my mom this way because I know that I will one day experience the same thing. I feel exceptionally lonely nowadays. I know others who struggle or who have struggled to take care of someone with HD, but I somehow feel like my situation is unique, somehow worse than everyone else’s.

However, Bianca also portrayed the strength and hope of HD families and advocates, writing:

Perhaps the best part of having HD is getting to meet so many people who are involved with the cause. The Huntington’s Disease Society of America is one of the most supportive groups of people I have ever worked with. Few know the struggle that accompanies this disease. It’s nice to be able to talk to people who do, people who have lost loved ones, as I have, to this horrible sickness, people who, like me, are at risk.

Bianca Serbin (photo by Gene Veritas)

Honesty and family solidarity

Reading Bianca’s words, I know that HD is forever seared into her consciousness.

I was deeply moved by her decision to write about our family’s struggles with Huntington’s. I am very proud of her.

The experience reinforced the necessity of accurate, patient, and, above all, honest communication within Huntington’s families.

In our conversations last week many powerful memories came to the fore. Bianca told me that one of her earliest recollections was of us visiting my parents’ home in Ohio (she was three) and seeing my father and me help my mother after she fell on the floor.

Bianca learned from me last week how the disease could potentially affect other members of our extended family.

As I looked at her, I felt an immense sense of relief that she is HD-free. I also felt wonderful anticipation: in less than a year she will be applying to college.

‘Don’t worry for now’

At the conclusion of our conversation the night before Bianca turned in the assignment, we discussed the fact that the greater the genetic defect (gene expansion), the earlier the onset.

We inevitably focused on my potential age of onset, ranging from the late forties to the late sixties.

“Hopefully I will get sick only in my late sixties,” I told Bianca.

“Or maybe you’ll get sick even later – or not at all!” Bianca responded optimistically.

We discussed the hope of clinical trials.

A bit later, determined not to let all this hinder her life plans, I told her gently: “Don’t worry about HD for now. That’s something off in the future.”

Bianca and Kenneth Serbin (family photo)

At key FDA meeting, Huntington's disease community insists on faster search for treatments

The Huntington’s disease community sent a powerful message to the U.S. Food and Drug Administration (FDA) at the September 22 meeting on HD patient-focused drug development: the agency must do its utmost to facilitate clinical trials and speed the search for effective treatments.

“We discovered the gene – we don’t have a cure,” declared Nancy Wexler, Ph.D., the famed researcher who initiated the search for the huntingtin gene while watching her mother suffer and ultimately die from HD. She addressed the panel of ten FDA officials and audience of some 200 HD family members and advocates at the agency’s headquarters in Silver Spring, MD. “We did that [discovery] in 1993.”

Along with Wexler, two panels of HD family members selected by the FDA to make presentations about the disease and current lack of effective remedies, as well as other participants in the unusually large meeting, described HD’s cruel devastation and the exhausting burden for caregivers.

The Huntington’s Disease Society of America (HDSA), which advocated for the meeting under the new requirements for patient feedback established by Congress for the FDA, sought to provide the FDA with a more tangible and comprehensive view of HD’s reality, all too familiar to affected families.

The FDA doesn’t conduct drug research, but its regulators must approve all clinical trials and new drugs in the U.S.

The plethora of symptoms

Many presenters and audience commenters emphasized the plethora of cognitive, behavioral, and other symptoms involved in HD in addition to chorea, the involuntary movements traditionally but erroneously labeled the key diagnostic signifier of the disease.

“I have all of the symptoms that have nothing to do with chorea,” stated presenter Julie Rosling, 72, of Orange, CA. Forced to retire some ten years ago from her pharmacist job, Julie participated on the five-person panel about the daily impact of HD.

I first met Julie almost 20 years ago in San Diego at the local HD support group, several years before I tested positive for the genetic defect that causes the disease. At most meetings the group had three breakouts: for the affected, caregivers, and untested individuals and asymptomatic gene carriers. Julie and I participated in this last breakout group. Sharing our most intimate fears about HD, we became friends.

I hadn’t seen Julie in a few years. I had long admired her intelligence, profound knowledge of HD science, and healthy lifestyle. My wife and I viewed Julie as a model for avoiding HD and, once her symptoms started, for living with the disease. She has late-onset HD, in contrast with most patients, who experience onset between 35 and 55.

From left to right, Frances Saldaña, Julie Rosling, Reed Rosling, and Gene Veritas (aka Kenneth P. Serbin) (photo courtesy of Frances)

‘I can’t play Chopin anymore’

At the FDA meeting, I was shocked and saddened to see how the disease had, as Julie put it in her presentation, greatly affected her demeanor.

“There are so many different types of symptoms,” Julie said, adding that HD must no longer be seen as just a brain disease. She described how she can no longer drive, suffers from insomnia and gastrointestinal difficulties, and fears choking, a common problem with HD.

“I fall all the time when I go up and down the stairs,” she continued. “The thing that’s the most important […] is that my symptoms are affecting every system in my body.”

Sadly, HD has robbed Julie of many favorite activities. Each December, Julie, a painter, sent out exquisitely designed holiday cards. Several years ago, she wrote in her holiday card that she could no longer paint the cover for her cards.

Those beautiful cards always brought me a glow of hope. I have missed them.

“I can’t play Chopin on the piano anymore,” Julie said at the FDA. “I can’t walk to the corner and back.”

HD has hampered her social interaction, too, because of her slurred speech.

“My symptoms have never gotten better,” Julie concluded. “They get worse every single day. I am a living example of what this disease is all about.”

Once again, I had looked into the genetic mirror and viewed my own highly probable future decline.

You can watch Julie’s presentation in the video below. To watch other presentations, click here to visit my video album of the meeting.

'I Can't Play Chopin on the Piano Anymore' from Gene Veritas on Vimeo.

FDA ‘blown away’ by turnout

“I think it was a very successful day,” said HDSA CEO Louise Vetter in an interview with me shortly after the meeting. “I’m really pleased with how full the room was, not only from the patient and community side, but also the FDA. They had a full docket of folks who wanted to be in the meeting to listen to the HD community.[…] There were more FDA staff in the room than is typical for a public hearing.”

The FDA’s level of interest demonstrated its “commitment to paving the way for new therapies for HD,” Vetter added. The FDA was “impressed” with the “urgency” and “commitment” of the HD community.

“The FDA was blown away,” she said, adding that the agency at the last minute had to set up a room “three times larger than what they planned.”

FDA regulators at the Public Meeting on HD Patient-Focused Drug Development (photo by Gene Veritas)

Several dozen HD community members participated in the hearing via webcast. In addition, representatives attended from CHDI Foundation, Inc., the nonprofit virtual biotech focused exclusively on the search for HD therapies, and the pharmaceutical industry.

The HD hearing took place in the morning, followed by a Parkinson’s disease meeting in the afternoon. The FDA had initially combined HD and Parkinson’s concerns into a single event, but HDSA convinced the agency to divide the meeting because of significant differences in the two conditions and the different treatment approaches, Vetter explained.

“We had more people than Parkinson’s had planned, and given the difference in prevalence, the FDA really took notice,” she said.

“I’m just so pleased with how many caregivers and family members really came prepared to succinctly share their stories and open up about the impact of the disease and their hopes and wishes. I know that the FDA heard that.”

FDA regulators Leonard Kapcala, M.D. (above) and Peter Como, Ph.D., and Lei Xu, M.D., Ph.D. (below) watch presentations by HD advocates (photos by Gene Veritas)

Still time to submit comments

HDSA requested the hearing as soon as the Congressional mandate for patient-focused feedback to the FDA went into effect in 2012. HDSA told the FDA that it could learn much from HD as a genetic disease, given a clearly identified gene and a community of affected families with a serious need for treatments, including preventative remedies for presymptomatic gene carriers, Vetter noted. HDSA also said HD could be a case study for understanding and treating other diseases.

In addition, HDSA will submit to the FDA survey responses from 3,600 HD-affected individuals and family members regarding the impact of symptoms and desired treatments, Vetter noted in her public comments at the hearing.

The public can provide further feedback to the FDA until November 23, 2015, by clicking here.

Several months after the public comment period closes, the FDA will complete a “Voice of the Patient” report on HD, Vetter told me. HDSA will carefully review the report and provide feedback.

You can watch Vetter make her public comments in the video below.

HDSA CEO tells FDA: Study the Broad Feedback from from Gene Veritas on Vimeo.

Advocating for the presymptomatic

During my brief remarks (audience members got only two minutes per commentary), I told of my mother’s demise, our daughter’s gene-negative status after testing in the womb, and my luck at remaining presymptomatic at 55, well beyond the point where my mother experienced many symptoms.

“I would like to see a medication that prevents me from ever getting any kind of symptoms,” I said. “There’s got to be a really open dialogue with the scientists on the new areas such as gene-silencing.”

I referred to the disappointment among HD advocates that the first gene-silencing clinical trial for HD, by the Carlsbad, CA-based Isis Pharmaceuticals, Inc., is happening outside the United States. (Phase I of the trial started in July in Europe and Canada; click here to read more.) I remarked that some drug company executives think the FDA too inflexible regarding new approaches. I urged the regulators to consider the new biomarkers (signs of disease and drug efficacy) scientists are seeking to measure in the blood, cerebrospinal fluid, and brain measured with new techniques.

Many presymptomatic people don’t get tested “because of the immense fear of the disease and the fact that there are no treatments,” I added during the final round of comments. “There’s also associated with genetic testing and getting your results a lot of suicidal tendencies.”

I recalled my suicidal fantasies from the early years of my family’s struggle with HD, when I saw my mother declining. Those ended after the birth of my daughter, I added.

“The presymptomatic population out there really needs to be part of the conversation,” I urged.

The urgent need for treatments

The FDA regulators, unsurprisingly, offered little comment on the proceedings; they wanted to listen and learn.

After returning home, on September 25 I requested an interview to follow up on the above-mentioned points, and more, including calls from families with juvenile HD patients for JHD-specific approaches to clinical trials and treatments. I have not yet received a response, but will write an update when I learn more.

However, HDSA CEO Vetter recalled for me the nub of her conversation with William Dunn, M.D., a neurologist and the FDA’s director of the Division of Neurology Products, immediately after the meeting. Dr. Dunn had welcomed the participants at the meeting’s start.

“He’s very committed to this,” Vetter said, referring to the search for HD treatments. “He was very impressed, very grateful for the input of the families, and very committed to making sure that, as therapies move forward to FDA consideration, they will be efficient in their review, that the FDA’s not sitting on anything. The last thing they want to do is be accused of keeping something meaningful out of the hands of families. They’re very committed to being very expeditious and thorough.”

Along with many fellow HD family members, I believe that the FDA gained a clearer understanding of our community’s suffering and the urgent need for treatments.

* * *

For the FDA’s recording of the meeting, click here. Be sure to visit my video album for other perspectives expressed at the hearing. For additional photos from the meeting, click here.

For the perspective of Parkinson’s specialist Jeanne Loring, Ph.D., click here.

(Note: HDSA paid for my travel to Silver Spring and a night of lodging. The views expressed in this article are wholly mine.)

HD advocate Katie Moser (left), HDSA CEO Louise Vetter, and advocate Emma Burris (photo by Gene Veritas)

Fighting – and writing – to stay healthy: ten years of 'At Risk for Huntington’s Disease'

Ten years ago today, I launched this blog to explore the depths of living at risk for Huntington’s disease and to unburden myself of the fear of its inevitable symptoms.

Frankly, I did not expect to still be writing at 55.

At that age, my mother had developed chorea (the involuntary movements associated with HD) and was experiencing serious emotional and cognitive symptoms that would soon prevent her from speaking and caring for herself. This year marks the sad 20^th anniversary of her official diagnosis. She died of HD in February 2006 at the age of 68.

I tested positive for the HD genetic mutation in 1999.

I strongly believe that my work on this blog – research, reflection, writing, advocacy, and networking – has helped me delay my own HD onset.

I cannot scientifically prove this, but evidence strongly suggests that mental stimuli and other forms of enrichment can positively affect the course of this disease and other neurodegenerative conditions.

Researchers have told me privately that they believe my mental activity has helped keep me stable. “Keep doing what you’re doing,” they say.

Gene Veritas with his tenth anniversary blog posting (photo by Gene Veritas)

Launching the blog

Life can be an emotional roller coaster. HD families ride the tallest and most twisted one, with HD gene carriers like me facing a terrifying descent into symptoms.

Starting in 2001, I wrote and edited Conquest, the tri-annual newsletter of the San Diego Chapter of the Huntington’s Disease Society of America. However, while revealing the stories of many HD-affected individuals and their families in Conquest, I never wrote about my own family’s plight.

I started At Risk at the urging of Norman Oder, a fellow Yale University graduate and colleague at the Yale Daily News.

As a young journalist in the 1980s, Norman by chance wrote an article about a New York area HD family. After we reconnected years later, he edited some of my Conquest articles. Coincidentally one told the story of that same family, part of which had moved to California.

In the early 2000s Norman and I brainstormed about how to increase media coverage of HD, including my own story, as a way to strengthen the cause and attract potential donors.

With that goal in mind, I initiated the blog to address the many complex issues faced by presymptomatic mutation carriers like me as well as untested at-risk individuals.

I didn’t realize at the time how much it would help me sort out my thoughts, engage with others in the HD community, and nudge HD activism. In February 2011, I examined this blog as an advocacy tool during my keynote of the Sixth Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc. In June 2011 I was named HDSA’s Person of the Year, an honor I never could have achieved without this forum. “I know, too, that this award is not just for me,” I wrote, “but for everybody affected by HD: the at-risk, the gene-positive, the symptomatic, the families, and the unsung heroes of America, the caregivers.”

From the start, Norman has applied his editing skills to virtually every article, almost always sending back revisions within a few hours. He has also suggested a number of topics and pushed me toward rigor when it’s tempting to just hope.

Norman is my “HD alter ego,” and a great friend.

(Later in 2005, Norman began his own long-running blog, a daily account of Brooklyn’s most controversial real-estate project, now called Atlantic Yards/Pacific Park Report.)

A stalwart supporter of my activism, my wife Regina has reflected with me on the content of numerous articles. Our daughter Bianca has witnessed me writing and posting articles. Now a teenager, she has a record she can consult of her grandmother’s demise and her father’s writing and coping strategies.

Explicitly and implicitly, Regina and Bianca permeate the pages of this blog. More than anything else, their presence and love motivate me to fight HD and to improve as a husband, father, and human being.

Gene Veritas (left, aka Kenneth Serbin), Norman Oder, and Regina Serbin (photo by Bianca Serbin)

Bringing hope

In that first year (2005), I wrote 17 articles. However, over the next three years I could only write 18 articles. I was distraught over the death of my mother from HD. I even acted out HD symptoms.

During those first four years, I focused primarily on my family’s struggles to care for my mother and how living with the gene affected my feelings and life.

With the help of my psychotherapist and a more effective set of medications for depression and anxiety, I started to turn the corner in late 2007.

In late 2007 I also wrote my first blog article about the potential of stem cell research for finding HD treatments. Along with other southern California advocates, I set up the very first presentations about Huntington’s disease before the state’s stem cell agency.

From that point on, the hope for treatments buoyed me emotionally and became a frequent theme of At Risk for Huntington’s Disease.

Expanding the research updates that I wrote for Conquest, I started doing on-the-scene reporting and in-depth interviews with researchers. In April 2008, I visited Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA, to produce an article on the company’s ambitious efforts to stop HD very close to its genetic roots.

This year Isis will conduct the long-awaited Phase I clinical trial to test its potential gene-silencing drug.

Broad coverage

The blog expanded to cover many of the difficult issues impinging on the HD community, including abortion; advocacy for a congressional bill to update the government’s disability criteria for HD;  the difficult discussions young at-risk people face during dating; and the challenges of finding adequate nursing home care for HD patients.

“I really absolutely admire your bravery in exposing this disease in a realistic and unapologetic way,” wrote Stella, another HD blogger, in a comment on one of my articles. Such comments help keep me going.

Writing the blog helped me think through the process of going public about my HD status after nearly 15 years of advocating anonymously and seven years of blogging under the pseudonym “Gene Veritas,” which I maintain as a symbol of our community’s fight for the cure.

Now, as I meld my HD advocacy with the career of Kenneth P. Serbin the professional historian, I have come to view the blog as a primary historical document of the “new and harrowing human experience of living in the gray zone between a genetic test result and onset of a disease.”

An emotional vent

Above all, the blog is an emotional vent.

With you, my readers, I can share my feelings about facing a terrible, currently untreatable disease, build forces to defeat the profound stigma surrounding HD, and bolster advocacy to improve care and seek the cure.

Through At Risk for Huntington’s Disease – and the HD community I have reached on Facebook – I have gained many new brothers and sisters determined to survive HD and passionate about the noble aim of bettering humanity by solving a major medical and scientific puzzle.

Often, producing articles for the blog envelops me for hours and sometimes days as I research, travel, photograph, shoot video, write, revise, and post, and then engage with readers via e-mail and social media.

Sometimes I go to bed too late – not good for someone at risk for a disease that disturbs the body’s natural rhythms.

As I prepare to post an article, I experience a torrent of emotion, followed by a deep sense of relief.

The memories of twenty years of dealing with HD come flooding back, but in the end I have hope.

Awaiting effective treatments

This article is posting number 197 in At Risk for Huntington’s Disease.

I am grateful that very soon I will be able to post number 200.

Tonight I will raise a glass to the blog.

I know it’s still a long shot because of the inevitability of HD symptoms, but I want to remain healthy long enough to write the article celebrating the discovery of a treatment so effective that I can stop worrying about HD and retire the blog.

Six cool L.A. ladies ‘bare the truth’ about Huntington’s disease, highlighting an exceptionally creative year for advocacy

From a pie-in-the-face challenge to documentaries to a plan to light up Chicago in blue, Huntington’s disease activists rose to new creativity in 2014 in their quest to raise awareness.

One of the most ingenious initiatives, #BareYourTruth, materialized as a photograph of six naked women advocates from the Los Angeles area, their bodies partially shielded by placards with the letters C-U-R-E-H-D.

Tastefully sexy but haunting, #BareYourTruth captures an essential issue for the HD community: ill and at-risk individuals like me and our families have struggled to exit the terrible and lonely HD closet, tell the world of our plight, and focus society’s energies on improved care and the search for remedies for this untreatable neurological disorder.

From left to right, Rachel Giacopuzzi-Brown, Angelica Randall, DeAnna DeNaro, Adriana Venegas, Taryn Renau, and Amy Morris O’Keefe (photo by #BareYourTruth)

The goal of #BareYourTruth is to “share the truth about HD,” explained DeAnna DeNaro, 49, a participant in the project. She lost her half-sister Denise DeNaro to HD on February 26.

“There isn’t anything fun about Huntington’s – it’s raw and it’s bare,” said Deanna in a phone interview on December 21. “When you’re naked, it’s a rawness, and you’re showing everything. If you can do that – to talk about something so raw and painful – ‘bare’ means you’re showing everything. We didn’t want to say ‘bare your soul.’ We wanted to do ‘bare your truth.’ Each one of has a truth about Huntington’s. When you talk about the truth, being naked is showing everything.”

Denise was 59 and had two children, now young adults. In 2001 DeAnna’s half-brother Donald DeNaro died at 52. He was believed to have HD. He had three children, today also young adults. DeAnna, Denise, and Donald shared the same father, but Denise and Donald had a different mother, who had HD. Of DeAnna’s five nieces and nephews, only one has tested for the disease. The result was negative. The other four remain untested and at risk.

Cross-country trips to offer care

For more than a decade, DeAnna traveled an average of five times per year from her home in Redondo Beach, CA, to Miami to help care for Denise. During that time, she has served on the board of the resurgent Los Angeles chapter of the Huntington’s Disease Society of America (HDSA), the last three years as president.

“I would go there a month at a time,” DeAnna said. “Each stage that she would enter into, we as a family had to collaborate to evaluate her care and what was the best for her, including her doctors and caregivers.”

As a result of her experience with HD, three years ago Deanna left her career as a manager in the construction business and opened a caregiving business. She will continue in that field when she moves next year to Germany, her husband’s homeland.

DeAnna DeNaro (photo by #BareYourTruth)

The birth of #BareYourTruth

Denise’s death spurred DeAnna to create #BareYourTruth and to recruit other women advocates. 

“I am not at risk for HD,” Deanna said. “It does affect me personally. Those are my siblings, regardless of the fact that we are half-siblings. We were very close.”

The photo shoot (with services donated anonymously by a professional photographer) took place in September. On September 28, a copy of the photograph was auctioned for $200 at the HDSA-LA Team Hope Walk, which netted $76,000 for the organization.

DeAnna witnessed HD for the first time in 1990 when she was 24 and visited Denise and Donald’s mother and an HD-affected cousin in a nursing home.

“It was the most horrific thing I have ever seen,” DeAnna said. “I was in shock. I learned very quickly that I wouldn’t be able to help my sister. It was obvious. I would be watching my sister suffer and die from this disease, which she did. Taking care of my sister was extremely challenging. I feel compelled to do this, now that my sister is gone.”

Reactions to nudity

DeAnna at first worried whether the photograph was an appropriate form of advocacy.

“I wasn’t sure of how that was going to be perceived,” she confided. However, she quickly adopted a “don’t care” approach because of the urgency of the HD cause.

“We kind of threw this picture around to a lot of people to see what they would say,” DeAnna said. “Not one man said anything sexual about the photograph. And I think they were being honest.”

So far, Deanna has gotten only positive feedback: “If you look at the faces, it’s so gratifying to see the combination of the pain of HD and our determination to do something about it. I think people are seeing that. They are reacting to what they see in the photograph, not that we’re naked. Talking about Huntington’s disease can be very difficult for many people. That’s how #BareYourTruth came out.”

DeAnna’s and fellow advocate #BareYourTruth advocate Rachel Giacopuzzi-Brown’s husbands at first balked at the idea but, after seeing the photo, “totally loved” it, DeAnna said.

A terrifying reality

In early October the women set up a #BareYourTruth Facebook page, where each has explained her connection to HD. Each has added a phrase to the hashtag #BareYourTruth that reflects each's personal story and its broader meaning for the HD community.

“I think there is still the part of me that is terrified to know the truth for fear that I wouldn't be strong enough to handle it,” Adriana Venegas wrote about her decision to test for the HD gene. “#BareYourTruth, even if it terrifies you.”

On November 3, Adriana received her result: she tested positive for the gene. In an e-mail, she told me that she is still mentally processing the result.

“You are my sister in HD,” I wrote her. “I am gene-positive, too. I am here for whatever you need.”

Adriana Venegas (photo by #BareYourTruth)

Seeking media attention

“I am now in my early 40s, with two young children and I am at risk for Huntingtonʼs disease,” wrote Amy Morris O’Keefe. “#BareYourTruth for those at risk.”

“Every day I watch my former Marine husband struggle with memory issues, myoclonic seizures, emotional instability, cognitive function, etc.,” wrote Rachel, who used the phrase “BareYourTruth for your children.” “As these symptoms became harder to hide, we struggled with how to break the news to our three children. In the end we decided that because of the behaviors he was exhibiting it was better to tell them the truth than to have them think that Daddy didn't love them. Ever since that day they have been amazing with him.”

Other women have shared their stories and photos. DeAnna and her collaborators have stimulated further discussion with a series of “truths,” or brief commentaries, about HD. So far, they have published nearly 60, posting several times a week.

Deanna calculated that through the page her story has reached more than 14,000 people.

#BareYourTruth hopes to attract more media attention. The group is producing a two-minute public service announcement that will include a message from HDSA CEO Louise Vetter, DeAnna said. They plan to post the video on Videolicious.com, with the hope that it will go viral.

Catchy initiatives

“Six very cool L.A. ladies,” I texted a friend about the #BareYourTruth initiative.

#BareYourTruth echoes past HD awareness-building efforts such as the “faceless faces of HD” project created by James Valvano, one of the seeds in the creation of the advocacy organization Help for HD International.

In 2014, other thought-provoking and catchy initiatives emerged.

At mid-year, HD-affected writer and blogger Sarah Foster Parker produced an interesting twist on the famous ALS Ice Bucket Challenge – which raised $115 million in a matter of weeks – with the creation of the HD Pie in the Face Challenge. This effort increased HD awareness on Twitter and other social media as well as donations to the HD cause.

HDSA’s Illinois Chapter has started a petition drive to have several of Chicago’s major buildings lit up in blue, the organization’s official color, during HD Awareness Month in May 2015 (click here to read more).

Many other ideas abounded in 2014, too numerous to detail here.

Informing the police about HD

Josh Bane, the nephew of Jeffrey Bane, a West Virginia HD-afflicted man roughly handled by the police as he begged for help, started a Justice for Jeffrey Bane page on Facebook.

Disturbed by the online video of Jeffrey Bane’s mistreatment and the ongoing mishandling of HD patients by police officers, a group of HD advocates set up an information booth at the 121^st Annual International Association of Chiefs of Police Conference in Orlando, FL, October 26-28.

Some 250 individuals, most with no prior knowledge of HD, obtained information at the booth. (Click here to read more).

Josh Bane (personal photo)

A dance, a twitch, and a lion’s mouth

The year brought the release of three documentary films about HD. In January, HD patient and activist Chris Furbee’s 85-minute Huntington’s Dance premiered at the Slamdance Festival in Park City, UT, winning a jury special mention for “most compelling personal journey.”

Stanford University student and HD advocate Kristen Powers launched her short film Twitch, which chronicles her journey to testing for HD. Kristen is currently holding private screenings of the film for the HD community. (I will review the film.)

Director Lucy Walker recently released her short documentary, The Lion’s Mouth Opens, about filmmaker Marianna Palka’s decision to test for HD. The film, which will appear on HBO in spring 2015, has been short-listed for an Academy Award in the short-subject documentary category (click here to read more).

Kristen Powers discussing Twitch in San Diego on October 9 (photo by Gene Veritas)

Scientific progress, but urgency for a cure

Scientists made immense progress on the search for treatments, including the announcement by Isis Pharmaceuticals, Inc., that it will commence a gene-silencing clinical trial in the first half of 2015.

The CHDI Foundation, Inc.,the non-profit virtual biotech focused solely on the development of HD treatments, is preparing to sponsor the landmark Tenth Annual HD Therapeutics Conference in Palm Springs, CA, in February.

Noting the legal existence of assisted suicide in some jurisdictions and also the use of non-approved, still experimental drugs in the race to stave off a worldwide Ebola epidemic, HD advocate Andy Meinen wondered why HD patients could not receive potential drugs still undergoing testing.

“Allow the dying to determine which risks they will choose for themselves,” Andy wrote on his Facebook site. “Ebola is hell, so is HD, give us our treatments now.”

He added in a Facebook message to me: “Once adequately informed of the risks inherent to experimental treatments, patients should have access to those drugs without interference from regulators.”

That’s a controversial idea. (I will explore the context and implications of Andy’s ideas in a future article.) Nevertheless, Andy made a valuable observation about how clinical protocols might need adjustment as both the challenges of disease and the potential of science evolve.

In 2015, the HD community will once again need creative, sharp-thinking advocates to drive home the demand for better care and a cure.

As I enter my eleventh year as an HD blogger, I'll do my best to report on new initiatives.